Datasets:

Brizape

/

multiCorp_tokenized_split_LabelNorm_0404_dev

like 0

[ "PURPOSE:", "To", "describe", "a", "French", "family", "with", "the", "incomplete", "type", "of", "X-linked", "congenital", "stationary", "night", "blindness", "(CSNB2)", "associated", "with", "a", "novel", "mutation", "in", "the", "retina-specific", "calcium", "channel", "alpha(1)", "subunit", "gene", "(CACNA1F).", "DESIGN:", "Interventional", "case", "report.", "METHODS:", "Two", "family", "members", "with", "a", "history", "of", "nonprogressive", "night", "blindness", "and", "subnormal", "visual", "acuity", "were", "clinically", "examined", "and", "the", "genotype", "determined", "by", "molecular", "genetic", "analysis.", "RESULT:", "Both", "patients", "had", "clinical", "manifestations", "characteristic", "of", "CSNB2.", "Electrophysiologically,", "we", "found", "a", "predominant", "reduction", "of", "the", "ERG", "B-wave", "in", "the", "maximal", "response.", "Both", "rod", "and", "cone", "function", "were", "subnormal,", "with", "the", "latter", "tending", "to", "be", "more", "attenuated.", "We", "identified", "a", "C", "deletion", "at", "nucleotide", "position", "4548,", "resulting", "in", "a", "frameshift", "with", "a", "predicted", "premature", "termination", "at", "codon", "1524.", "CONCLUSIONS:", "The", "clinical", "and", "genetic", "study", "of", "a", "novel", "mutation", "in", "the", "CACNA1F", "gene", "adds", "further", "support", "to", "the", "contention", "that", "CSNB2", "represents", "a", "genetically", "distinct", "retinal", "disorder", "of", "a", "calcium", "channel." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 5120, 30, 1942, 5993, 43, 12941, 3416, 1956, 1920, 9876, 2601, 1927, 66, 17, 4624, 9901, 12563, 9609, 19880, 12, 30195, 8520, 13, 2458, 1956, 43, 4008, 3979, 1922, 1920, 9544, 17, 2487, 5016, 4999, 4595, 12, 21, 13, 5903, 2359, 12, 9703, 2175, 1009, 1038, 13, 18, 3036, 30, 17163, 3087, 3809, 18, 2860, 30, 2288, 3416, 4678, 1956, 43, 4403, 1927, 24857, 6405, 4479, 2320, 9609, 19880, 1930, 28843, 2620, 3737, 12320, 1985, 5908, 3572, 1930, 1920, 5619, 3180, 2007, 3272, 3299, 2333, 18, 3211, 30, 2321, 2132, 2430, 2535, 10952, 6293, 1927, 30195, 8520, 18, 13189, 1954, 16, 2038, 2435, 43, 6136, 3378, 1927, 1920, 11949, 44, 17, 5913, 1922, 1920, 7275, 2644, 18, 2321, 6275, 1930, 11841, 2347, 1985, 28843, 2620, 16, 1956, 1920, 6296, 5370, 1941, 1942, 1998, 2253, 8060, 18, 2038, 2899, 43, 45, 5541, 2019, 5489, 3507, 20203, 1025, 16, 3864, 1922, 43, 21848, 1956, 43, 4396, 9839, 12462, 2019, 8905, 14039, 1006, 18, 4355, 30, 1920, 2535, 1930, 3299, 2161, 1927, 43, 4008, 3979, 1922, 1920, 9703, 2175, 1009, 1038, 2359, 17005, 2520, 3373, 1942, 1920, 3919, 2001, 1988, 30195, 8520, 4972, 43, 9517, 4493, 6943, 4770, 1927, 43, 5016, 4999, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[ "Study", "of", "a", "Taiwanese", "family", "with", "oculopharyngeal", "muscular", "dystrophy." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 2161, 1927, 43, 12760, 2124, 3416, 1956, 25669, 18707, 12330, 19321, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[]

[]

[ 2, 3 ]

[ 0, 0 ]

[ 1, 1 ]

[ -100, -100 ]

[ "Hb", "zoeterwoude", "[beta23(B5)", "Val-->Ala", ")]:", "a", "new", "beta-globin", "variant", "found", "in", "association", "with", "erythrocytosis." ]

[ 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 4873, 11906, 2732, 1018, 4468, 3695, 37, 4666, 4553, 12, 24365, 13, 2326, 17, 17, 34, 10527, 13, 39, 30, 43, 2814, 4666, 17, 18938, 6031, 2435, 1922, 3279, 1956, 25940, 27932, 2475, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[ "CONTEXT:", "Interindividual", "variations", "in", "glucocorticoid", "sensitivity", "have", "been", "associated", "with", "manifestations", "of", "cortisol", "excess", "or", "deficiency", "and", "may", "be", "partly", "explained", "by", "polymorphisms", "in", "the", "human", "glucocorticoid", "receptor", "(hGR)", "gene.", "We", "studied", "a", "43-yr-old", "female,", "who", "presented", "with", "manifestations", "consistent", "with", "tissue-selective", "glucocorticoid", "hypersensitivity.", "We", "detected", "a", "novel,", "single,", "heterozygous", "nucleotide", "(G", "-->", "C)", "substitution", "at", "position", "1201", " ", "(exon", "2)", "of", "the", "hGR", "gene,", "which", "resulted", "in", "aspartic", "acid", "to", "histidine", "substitution", "at", "amino", "acid", "position", "401", "in", "the", "amino-terminal", "domain", "of", "the", "hGRalpha.", "We", "investigated", "the", "molecular", "mechanisms", "of", "action", "of", "the", "natural", "mutant", "receptor", "hGRalpha", "D401H", ".", "METHODS-RESULTS:", "Compared", "with", "the", "wild-type", "hGRalpha,", "the", "mutant", "receptor", "hGRalpha", "D401H", " ", "demonstrated", "a", "2.4-fold", "increase", "in", "its", "ability", "to", "transactivate", "the", "glucocorticoid-inducible", "mouse", "mammary", "tumor", "virus", "promoter", "in", "response", "to", "dexamethasone", "but", "had", "similar", "affinity", "for", "the", "ligand", "(dissociation", "constant", "=", "6.2", "+/-", "0.6", "vs.", "6.1", "+/-", "0.6", "nm)", "and", "time", "to", "nuclear", "translocation", "(14.75", "+/-", "0.25", "vs.", "14.25", "+/-", "1.13", "min).", "The", "mutant", "receptor", "hGRalpha", "D401H", " ", "did", "not", "exert", "a", "dominant", "positive", "or", "negative", "effect", "upon", "the", "wild-type", "receptor,", "it", "preserved", "its", "ability", "to", "bind", "to", "glucocorticoid", "response", "elements,", "and", "displayed", "a", "normal", "interaction", "with", "the", "glucocorticoid", "receptor-interacting", "protein", "1", "coactivator.", "CONCLUSIONS:", "The", "mutant", "receptor", "hGRalpha", "D401H", " ", "enhances", "the", "transcriptional", "activity", "of", "glucocorticoid-responsive", "genes.", "The", "presence", "of", "the", "D401H", " ", "mutation", "may", "predispose", "subjects", "to", "obesity,", "hypertension,", "and", "other", "manifestations", "of", "the", "metabolic", "syndrome." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 4491, 30, 2107, 2762, 26487, 6740, 1922, 14469, 3802, 2162, 2252, 2458, 1956, 10952, 1927, 9806, 5799, 2014, 6179, 1930, 2278, 1998, 10028, 6094, 2007, 8321, 1922, 1920, 2616, 14469, 3148, 12, 7175, 1005, 13, 2359, 18, 2038, 3942, 43, 3941, 17, 13031, 17, 4156, 4232, 16, 2746, 3549, 1956, 10952, 3499, 1956, 2960, 17, 5328, 14469, 14625, 18, 2038, 3330, 43, 4008, 16, 2957, 16, 9589, 5489, 12, 49, 17, 17, 34, 45, 13, 6636, 2019, 3507, 6103, 1009, 12, 7049, 22, 13, 1927, 1920, 7175, 1005, 2359, 16, 2154, 4306, 1922, 23047, 2687, 1942, 13873, 6636, 2019, 3835, 2687, 3507, 25126, 1922, 1920, 3835, 17, 4262, 3418, 1927, 1920, 7175, 7317, 4151, 18, 2038, 3845, 1920, 3272, 3531, 1927, 4615, 1927, 1920, 4613, 3606, 3148, 7175, 7317, 4151, 16603, 6924, 1023, 18, 2860, 17, 2274, 30, 2452, 1956, 1920, 3576, 17, 2601, 7175, 7317, 4151, 16, 1920, 3606, 3148, 7175, 7317, 4151, 16603, 6924, 1023, 3161, 43, 22, 18, 24, 17, 3728, 2760, 1922, 2496, 3682, 1942, 27092, 2010, 1920, 14469, 17, 9376, 3321, 9891, 2798, 3413, 4465, 1922, 2644, 1942, 12681, 2308, 2430, 2551, 5173, 1958, 1920, 5207, 12, 9182, 5168, 33, 26, 18, 22, 15, 19, 17, 20, 18, 26, 3201, 18, 26, 18, 21, 15, 19, 17, 20, 18, 26, 2943, 13, 1930, 2367, 1942, 4254, 7849, 12, 2607, 18, 4089, 15, 19, 17, 20, 18, 2637, 3201, 18, 2607, 18, 2637, 15, 19, 17, 21, 18, 2590, 2360, 13, 18, 1920, 3606, 3148, 7175, 7317, 4151, 16603, 6924, 1023, 2811, 2084, 10788, 43, 6379, 2843, 2014, 3136, 2495, 4073, 1920, 3576, 17, 2601, 3148, 16, 2176, 10502, 2496, 3682, 1942, 4566, 1942, 14469, 2644, 5362, 16, 1930, 5822, 43, 2791, 2835, 1956, 1920, 14469, 3148, 17, 8615, 2213, 21, 22706, 18, 4355, 30, 1920, 3606, 3148, 7175, 7317, 4151, 16603, 6924, 1023, 9515, 1920, 5224, 2455, 1927, 14469, 17, 8487, 2628, 18, 1920, 2990, 1927, 1920, 16603, 6924, 1023, 3979, 2278, 23002, 3297, 1942, 5379, 16, 5579, 16, 1930, 2303, 10952, 1927, 1920, 4487, 4741, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 2, 2, 2, 2, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[]

[]

[ 2, 3 ]

[ 0, 0 ]

[ 1, 1 ]

[ -100, -100 ]

[]

[]

[ 2, 3 ]

[ 0, 0 ]

[ 1, 1 ]

[ -100, -100 ]

[ "SETTING:", "Multidrug-resistant", "tuberculosis", "(MDR-TB)", "is", "a", "serious", "health", "problem", "in", "Eastern", "European", "countries,", "including", "Latvia.", "OBJECTIVE:", "To", "investigate", "the", "proportion", "of", "tuberculosis,", "including", "MDR-TB", "cases,", "attributable", "to", "recent", "transmission", "and", "risk", "factors", "associated", "with", "clustering.", "DESIGN:", "Retrospective", "nested", "case-control", "study.", "The", "data", "set", "incorporated", "a", "wide", "spectrum", "of", "social", "features,", "as", "well", "as", "genotypes", "of", "Mycobacterium", "tuberculosis", "isolates", "determined", "by", "insertion", "sequence", "6110", "restriction", "fragment", "length", "polymorphism", "analysis", "of", "PvuII", "cleaved", "genomic", "DNA", "and", "spoligotyping.", "RESULTS:", "In", "comparison", "with", "non-clustered", "M.", "tuberculosis,", "the", "Beijing", "genotype", "(OR", "12.15)", "and", "multidrug", "resistance", "(OR", "5.61,", "P", "<", "0.01)", "were", "associated", "with", "clustering.", "In", "comparison", "with", "clustered", "drug-susceptible", "M.", "tuberculosis,", "clustering", "of", "MDR", "M.", "tuberculosis", "was", "associated", "with", "Beijing", "genotype", "(OR", "41.67),", "previous", "hospitalisation", "(OR", "18.33)", "and", "previous", "TB", "treatment", "(OR", "17.68,", "P", "<", "0.05).", "Direct", "epidemiological", "links", "in", "hospitals", "were", "found", "for", "almost", "one", "third", "(32%)", "of", "MDR", "Beijing", "cases.", "CONCLUSIONS:", "MDR", "cases", "were", "more", "likely", "to", "be", "found", "in", "clusters", "than", "drug-susceptible", "cases", "(74.0%", "vs.", "33.6%).", "Recent", "nosocomial", "transmission", "of", "MDR-TB", "is", "an", "important", "risk", "factor", "for", "the", "spread", "of", "multiresistance,", "and", "is", "associated", "with", "the", "Beijing", "genotype.", "Special", "attention", "should", "be", "paid", "to", "infection", "control", "measures", "in", "hospitals", "and", "ambulatory", "treatment", "should", "be", "enforced." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 4308, 30, 16398, 17, 4910, 8449, 12, 11173, 17, 5152, 13, 1977, 43, 7433, 2436, 4915, 1922, 11562, 6785, 5085, 16, 2710, 4144, 2165, 1019, 18, 4470, 30, 1942, 4482, 1920, 4242, 1927, 8449, 16, 2710, 11173, 17, 5152, 2919, 16, 11081, 1942, 3505, 5303, 1930, 2565, 2790, 2458, 1956, 7616, 18, 3036, 30, 6968, 13735, 3087, 17, 2285, 2161, 18, 1920, 2230, 2735, 8800, 43, 4743, 5648, 1927, 3686, 4075, 16, 1966, 2486, 1966, 7059, 1927, 16389, 8449, 5645, 3180, 2007, 7413, 3244, 5473, 2930, 7587, 5302, 3471, 8218, 2333, 1927, 5774, 15444, 1033, 10246, 4935, 2678, 1930, 18055, 12191, 3827, 5518, 1941, 18, 2274, 30, 1922, 3723, 1956, 2447, 17, 11049, 55, 18, 8449, 16, 1920, 13823, 5619, 12, 2014, 2369, 18, 2461, 13, 1930, 16398, 3554, 12, 2014, 25, 18, 5473, 16, 58, 32, 20, 18, 3287, 13, 1985, 2458, 1956, 7616, 18, 1922, 3723, 1956, 11049, 2838, 17, 7819, 55, 18, 8449, 16, 7616, 1927, 11173, 55, 18, 8449, 1982, 2458, 1956, 13823, 5619, 12, 2014, 4353, 18, 4838, 13, 16, 2555, 26185, 12, 2014, 2654, 18, 3401, 13, 1930, 2555, 5152, 2311, 12, 2014, 2752, 18, 5117, 16, 58, 32, 20, 18, 2914, 13, 18, 3083, 9591, 10069, 1922, 7252, 1985, 2435, 1958, 5365, 2340, 4563, 12, 3323, 9, 13, 1927, 11173, 13823, 2919, 18, 4355, 30, 11173, 2919, 1985, 2253, 3205, 1942, 1998, 2435, 1922, 5859, 2254, 2838, 17, 7819, 2919, 12, 5446, 18, 20, 9, 3201, 18, 3401, 18, 26, 9, 13, 18, 3505, 22905, 5303, 1927, 11173, 17, 5152, 1977, 1925, 2715, 2565, 2991, 1958, 1920, 6441, 1927, 2779, 2808, 17420, 1972, 16, 1930, 1977, 2458, 1956, 1920, 13823, 5619, 18, 5180, 4976, 3066, 1998, 13555, 1942, 2909, 2285, 3975, 1922, 7252, 1930, 15280, 2311, 3066, 1998, 29609, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[]

[]

[ 2, 3 ]

[ 0, 0 ]

[ 1, 1 ]

[ -100, -100 ]

[]

[]

[ 2, 3 ]

[ 0, 0 ]

[ 1, 1 ]

[ -100, -100 ]

[]

[]

[ 2, 3 ]

[ 0, 0 ]

[ 1, 1 ]

[ -100, -100 ]

[ "BACKGROUND/AIMS:", "GH", "insensitivity", "and", "IGF", "deficiency", "may", "result", "from", "aberrations", "of", "the", "GH", "receptor", "(GHR).", "We", "describe", "a", "4-year-old", "child", "with", "modest", "growth", "failure", "and", "normal", "serum", "concentrations", "of", "GH-binding", "protein", "(GHBP),", "but", "clinical", "evidence", "of", "GH", "insensitivity.", "METHOD:", "Serum", "and", "DNA", "samples", "from", "the", "proband", "and", "his", "parents", "were", "analyzed.", "RESULTS:", "The", "child", "had", "a", "height", "of", "-4", "SD,", "elevated", "serum", "GH", "concentrations,", "abnormally", "low", "serum", "IGF-I", "and", "IGFBP-3", "concentrations", "and", "normal", "GHBP", "concentrations.", "DNA", "analysis", "revealed", "compound", "heterozygosity", "for", "mutations", "of", "GHR,", "including", "a", "previously", "reported", "R211H", " ", "mutation", "and", "a", "novel", "duplication", "of", "a", "nucleotide", "in", "exon", "9", "(", "899dupC", "),", "the", "latter", "resulting", "in", "a", "frameshift", "and", "a", "premature", "stop", "codon.", "Treatment", "with", "recombinant", "DNA-derived", "IGF-I", "resulted", "in", "growth", "acceleration.", "CONCLUSION:", "Mutations", "affecting", "the", "intracellular", "domain", "of", "the", "GHR", "can", "result", "in", "GH", "insensitivity", "and", "IGF", "deficiency,", "despite", "normal", "serum", "concentrations", "of", "GHBP.", "The", "presence", "of", "clinical", "and", "biochemical", "evidence", "of", "GH", "resistance", "is", "sufficient", "to", "consider", "the", "possibility", "of", "aberrations", "of", "the", "GHR,", "even", "in", "the", "presence", "of", "normal", "serum", "GHBP", "concentrations." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 3872, 19, 8267, 30, 6101, 30055, 1930, 6630, 6179, 2278, 3211, 2037, 16303, 1927, 1920, 6101, 3148, 12, 6101, 1005, 13, 18, 2038, 5993, 43, 24, 17, 2476, 17, 4156, 2748, 1956, 9194, 2905, 4574, 1930, 2791, 3256, 3295, 1927, 6101, 17, 2743, 2213, 12, 6101, 3846, 13, 16, 2308, 2535, 3095, 1927, 6101, 30055, 18, 2417, 30, 3256, 1930, 2678, 2785, 2037, 1920, 21700, 1930, 4167, 5853, 1985, 3265, 18, 2274, 30, 1920, 2748, 2430, 43, 6178, 1927, 17, 24, 4035, 16, 4664, 3256, 6101, 3295, 16, 20756, 2330, 3256, 6630, 17, 51, 1930, 16568, 17, 23, 3295, 1930, 2791, 6101, 3846, 3295, 18, 2678, 2333, 3404, 3547, 18896, 1958, 3527, 1927, 6101, 1005, 16, 2710, 43, 3024, 2568, 7261, 3242, 1023, 3979, 1930, 43, 4008, 12630, 1927, 43, 5489, 1922, 7049, 29, 12, 5792, 1026, 10015, 7693, 13, 16, 1920, 6296, 3864, 1922, 43, 21848, 1930, 43, 9839, 6875, 8905, 18, 2311, 1956, 5752, 2678, 17, 3595, 6630, 17, 51, 4306, 1922, 2905, 13449, 18, 4180, 30, 3527, 7359, 1920, 4776, 3418, 1927, 1920, 6101, 1005, 2112, 3211, 1922, 6101, 30055, 1930, 6630, 6179, 16, 4281, 2791, 3256, 3295, 1927, 6101, 3846, 18, 1920, 2990, 1927, 2535, 1930, 6503, 3095, 1927, 6101, 3554, 1977, 5409, 1942, 2782, 1920, 5341, 1927, 16303, 1927, 1920, 6101, 1005, 16, 3385, 1922, 1920, 2990, 1927, 2791, 3256, 6101, 3846, 3295, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[]

[]

[ 2, 3 ]

[ 0, 0 ]

[ 1, 1 ]

[ -100, -100 ]

[ "Expanding", "clinical", "spectrum", "of", "non-autoimmune", "hyperthyroidism", "due", "to", "an", "activating", "germline", "mutation,", "p.M453T", ",", "in", "the", "thyrotropin", "receptor", "gene." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0 ]

[ 2, 15014, 2535, 5648, 1927, 2447, 17, 8904, 28413, 2810, 1942, 1925, 8019, 12237, 3979, 16, 58, 18, 21397, 3786, 1031, 16, 1922, 1920, 30482, 22628, 3148, 2359, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[]

[]

[ 2, 3 ]

[ 0, 0 ]

[ 1, 1 ]

[ -100, -100 ]

[ "High-resolution", "deletion", "mapping", "of", "15q13.2-q21.1", "in", "transitional", "cell", "carcinoma", "of", "the", "bladder." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 2149, 17, 4885, 5541, 7084, 1927, 2461, 16886, 1010, 18, 22, 17, 22808, 1009, 18, 21, 1922, 20086, 2024, 5373, 1927, 1920, 7821, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[ "BACKGROUND:", "Methylenetetrahydrofolate", "reductase", "(MTHFR)", "is", "an", "important", "enzyme", "of", "folate", "and", "methionine", "metabolism,", "making", "it", "crucial", "for", "DNA", "synthesis", "and", "methylation.", "The", "objective", "of", "this", "study", "was", "to", "analyze", "MTHFR", "gene", "677C>T", " ", "polymorphism", "in", "infertile", "male", "individuals", "from", "North", "India,", "followed", "by", "a", "meta-analysis", "on", "our", "data", "and", "published", "studies.", "METHODOLOGY/PRINCIPAL", "FINDINGS:", "We", "undertook", "genotyping", "on", "a", "total", "of", "837", "individuals", "including", "well", "characterized", "infertile", "(N=522)", "and", "confirmed", "fertile", "(N=315)", "individuals.", "The", "SNP", "was", "typed", "by", "direct", "DNA", "sequencing.", "Chi", "square", "test", "was", "done", "for", "statistical", "analysis.", "Published", "studies", "were", "searched", "using", "appropriate", "keywords.", "Source", "of", "data", "collection", "for", "meta-analysis", "included", "'Pubmed',", "'Ovid'", "and", "'Google", "Scholar'.", "Those", "studies", "analyzing", "677C>T", " ", "polymorphism", "in", "male", "infertility", "and", "presenting", "all", "relevant", "data", "were", "included", "in", "meta-analysis.", "The", "genotype", "data", "for", "infertile", "subjects", "and", "fertile", "controls", "was", "extracted", "from", "each", "study.", "Chi", "square", "test", "was", "done", "to", "obtain", "odds", "ratio", "(OR)", "and", "p-value.", "Meta-analysis", "was", "performed", "using", "Comprehensive", "Meta-analysis", "software", "(Version", "2).", "The", "frequency", "of", "mutant", "(T)", "allele", "(p=0.0025)", "and", "genotypes", "(CT+TT)", "(p=0.0187)", "was", "significantly", "higher", "in", "infertile", "individuals", "in", "comparison", "to", "fertile", "controls", "in", "our", "case-control", "study.", "The", "overall", "summary", "estimate", "(OR)", "for", "allele", "and", "genotype", "meta-analysis", "were", "1.304", "(p=0.000),", "1.310", "(p=0.000),", "respectively,", "establishing", "significant", "association", "of", "677C>T", " ", "polymorphism", "with", "male", "infertility.", "CONCLUSIONS/SIGNIFICANCE:", "677C>T", " ", "substitution", "associated", "strongly", "with", "male", "infertility", "in", "Indian", "population.", "Allele", "and", "genotype", "meta-analysis", "also", "supported", "its", "strong", "correlation", "with", "male", "infertility,", "thus", "establishing", "it", "as", "a", "risk", "factor." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 3872, 30, 17947, 28959, 5945, 2584, 28716, 8649, 11386, 12, 25910, 13, 1977, 1925, 2715, 4113, 1927, 13761, 1930, 12417, 4714, 16, 5399, 2176, 6608, 1958, 2678, 4271, 1930, 5547, 18, 1920, 4470, 1927, 2052, 2161, 1982, 1942, 7125, 25910, 2359, 4838, 1027, 1030, 34, 62, 8218, 1922, 26282, 4005, 3445, 2037, 6873, 9288, 16, 3489, 2007, 43, 5880, 17, 2333, 1990, 2342, 2230, 1930, 4586, 2351, 18, 8087, 19, 7944, 3056, 30, 2038, 23111, 10667, 1990, 43, 2698, 1927, 5893, 1027, 3445, 2710, 2486, 4378, 26282, 12, 56, 33, 4764, 1028, 13, 1930, 3982, 21912, 12, 56, 33, 21413, 13, 3445, 18, 1920, 6821, 1982, 2601, 1007, 2007, 3083, 2678, 4754, 18, 7368, 6940, 2648, 1982, 5404, 1958, 3850, 2333, 18, 4586, 2351, 1985, 11415, 2193, 4703, 11569, 18, 4585, 1927, 2230, 4957, 1958, 5880, 17, 2333, 3063, 11, 13093, 11, 16, 11, 23668, 11, 1930, 11, 20069, 14171, 11, 18, 2690, 2351, 9965, 4838, 1027, 1030, 34, 62, 8218, 1922, 4005, 15446, 1930, 8326, 2136, 4494, 2230, 1985, 3063, 1922, 5880, 17, 2333, 18, 1920, 5619, 2230, 1958, 26282, 3297, 1930, 21912, 3562, 1982, 5210, 2037, 2362, 2161, 18, 7368, 6940, 2648, 1982, 5404, 1942, 5649, 6408, 3400, 12, 2014, 13, 1930, 58, 17, 3113, 18, 5880, 17, 2333, 1982, 2593, 2193, 6911, 5880, 17, 2333, 4187, 12, 4671, 22, 13, 18, 1920, 3528, 1927, 3606, 12, 62, 13, 5465, 12, 58, 33, 20, 18, 9299, 1015, 13, 1930, 7059, 12, 3369, 15, 7382, 13, 12, 58, 33, 20, 18, 17911, 1027, 13, 1982, 2567, 2580, 1922, 26282, 3445, 1922, 3723, 1942, 21912, 3562, 1922, 2342, 3087, 17, 2285, 2161, 18, 1920, 3399, 6099, 5383, 12, 2014, 13, 1958, 5465, 1930, 5619, 5880, 17, 2333, 1985, 21, 18, 23490, 12, 58, 33, 20, 18, 3240, 13, 16, 21, 18, 17966, 12, 58, 33, 20, 18, 3240, 13, 16, 2763, 16, 11810, 2228, 3279, 1927, 4838, 1027, 1030, 34, 62, 8218, 1956, 4005, 15446, 18, 4355, 19, 4550, 30, 4838, 1027, 1030, 34, 62, 6636, 2458, 4937, 1956, 4005, 15446, 1922, 10733, 2973, 18, 5465, 1930, 5619, 5880, 17, 2333, 2222, 4427, 2496, 3206, 3670, 1956, 4005, 15446, 16, 2842, 11810, 2176, 1966, 43, 2565, 2991, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[ "Identification", "of", "apolipoprotein", "E", "Guangzhou", "(", "arginine", "150", "proline", "),", "a", "new", "variant", "associated", "with", "lipoprotein", "glomerulopathy." ]

[ 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 4824, 1927, 18747, 47, 28521, 12, 9732, 5493, 12958, 13, 16, 43, 2814, 6031, 2458, 1956, 9694, 19268, 6522, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[]

[]

[ 2, 3 ]

[ 0, 0 ]

[ 1, 1 ]

[ -100, -100 ]

[ "We", "describe", "a", "new", "cause", "of", "congenital", "disorder", "of", "glycosylation-Ic", "(CDG-Ic)", "in", "a", "young", "girl", "with", "a", "rather", "mild", "CDG", "phenotype.", "Her", "cells", "accumulated", "lipid-linked", "oligosaccharides", "lacking", "three", "glucose", "residues,", "and", "sequencing", "of", "the", "ALG6", "gene", "showed", "what", "initially", "appeared", "to", "be", "a", "homozygous", "novel", "point", "mutation", "(", "338G>A", ").", "However,", "haplotype", "analysis", "showed", "that", "the", "patient", "does", "not", "carry", "any", "paternal", "DNA", "markers", "extending", "33kb", "in", "the", "telomeric", "direction", "from", "the", "ALG6", "region,", "and", "microsatellite", "analysis", "extended", "the", "abnormal", "region", "to", "at", "least", "2.5Mb.", "We", "used", "high-resolution", "karyotyping", "to", "confirm", "a", "deletion", "(10-12Mb)", "[del(1)(p31.2p32.3)]", "and", "found", "no", "structural", "abnormalities", "in", "the", "father,", "suggesting", "a", "de", "novo", "event.", "Our", "findings", "extend", "the", "causes", "of", "CDG", "to", "larger", "DNA", "deletions", "and", "identify", "the", "first", "Japanese", "CDG-Ic", "mutation." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 2038, 5993, 43, 2814, 3936, 1927, 9901, 4770, 1927, 12082, 17, 3996, 12, 2464, 1029, 17, 3996, 13, 1922, 43, 4201, 21676, 1956, 43, 4356, 5809, 2464, 1029, 4629, 18, 3656, 2094, 10508, 4486, 17, 4624, 22012, 7046, 2559, 3817, 4248, 16, 1930, 4754, 1927, 1920, 4326, 1016, 2359, 2594, 4663, 6370, 6209, 1942, 1998, 43, 9419, 4008, 3575, 3979, 12, 24347, 1029, 34, 43, 13, 18, 2406, 16, 10949, 2333, 2594, 1988, 1920, 2774, 3731, 2084, 9875, 2967, 16046, 2678, 4432, 12140, 3401, 11228, 1922, 1920, 19951, 4924, 2037, 1920, 4326, 1016, 3031, 16, 1930, 16069, 2333, 6091, 1920, 4552, 3031, 1942, 2019, 3464, 22, 18, 25, 17010, 18, 2038, 2251, 2149, 17, 4885, 15179, 20531, 1942, 4763, 43, 5541, 12, 2119, 17, 2369, 17010, 13, 37, 2723, 12, 21, 13, 12, 9234, 1009, 18, 21981, 6763, 18, 23, 13, 39, 1930, 2435, 2239, 4346, 6754, 1922, 1920, 14854, 16, 3783, 43, 2028, 9441, 4817, 18, 2342, 3056, 9676, 1920, 5092, 1927, 2464, 1029, 1942, 4327, 2678, 10550, 1930, 3512, 1920, 2561, 10405, 2464, 1029, 17, 3996, 3979, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[]

[]

[ 2, 3 ]

[ 0, 0 ]

[ 1, 1 ]

[ -100, -100 ]

[]

[]

[ 2, 3 ]

[ 0, 0 ]

[ 1, 1 ]

[ -100, -100 ]

[ "Our", "objective", "was", "to", "resequence", "insulin", "receptor", "substrate", "2", "(IRS2)", "to", "identify", "variants", "associated", "with", "obesity-", "and", "diabetes-related", "traits", "in", "Hispanic", "children.", "Exonic", "and", "intronic", "segments,", "5'", "and", "3'", "flanking", "regions", "of", "IRS2", "(", " ", "14.5", "kb),", "were", "bidirectionally", "sequenced", "for", "single", "nucleotide", "polymorphism", "(SNP)", "discovery", "in", "934", "Hispanic", "children", "using", "3730XL", "DNA", "Sequencers.", "Additionally,", "15", "SNPs", "derived", "from", "Illumina", "HumanOmni1-Quad", "BeadChips", "were", "analyzed.", "Measured", "genotype", "analysis", "tested", "associations", "between", "SNPs", "and", "obesity", "and", "diabetes-related", "traits.", "Bayesian", "quantitative", "trait", "nucleotide", "analysis", "was", "used", "to", "statistically", "infer", "the", "most", "likely", "functional", "polymorphisms.", "A", "total", "of", "140", "SNPs", "were", "identified", "with", "minor", "allele", "frequencies", "(MAF)", "ranging", "from", "0.001", "to", "0.47.", "Forty-two", "of", "the", "70", "coding", "SNPs", "result", "in", "nonsynonymous", "amino", "acid", "substitutions", "relative", "to", "the", "consensus", "sequence;", "28", "SNPs", "were", "detected", "in", "the", "promoter,", "12", "in", "introns,", "28", "in", "the", "3'-UTR,", "and", "2", "in", "the", "5'-UTR.", "Two", "insertion/deletions", "(indels)", "were", "detected.", "Ten", "independent", "rare", "SNPs", "(MAF", "=", "0.001-0.009)", "were", "associated", "with", "obesity-related", "traits", "(P", "=", "0.01-0.00002).", "SNP", "10510452_139", "in", "the", "promoter", "region", "was", "shown", "to", "have", "a", "high", "posterior", "probability", "(P", "=", "0.77-0.86)", "of", "influencing", "BMI,", "fat", "mass,", "and", "waist", "circumference", "in", "Hispanic", "children.", "SNP", "10510452_139", "contributed", "between", "2", "and", "4%", "of", "the", "population", "variance", "in", "body", "weight", "and", "composition.", "None", "of", "the", "SNPs", "or", "indels", "were", "associated", "with", "diabetes-related", "traits", "or", "accounted", "for", "a", "previously", "identified", "quantitative", "trait", "locus", "on", "chromosome", "13", "for", "fasting", "serum", "glucose.", "Rare", "but", "not", "common", "IRS2", "variants", "may", "play", "a", "role", "in", "the", "regulation", "of", "body", "weight", "but", "not", "an", "essential", "role", "in", "fasting", "glucose", "homeostasis", "in", "Hispanic", "children." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 2342, 4470, 1982, 1942, 1995, 2836, 2055, 4122, 3148, 4510, 22, 12, 16051, 1028, 13, 1942, 3512, 4936, 2458, 1956, 5379, 17, 1930, 4032, 17, 2712, 7226, 1922, 10542, 3069, 18, 29070, 1930, 20341, 7492, 16, 25, 11, 1930, 23, 11, 12679, 3451, 1927, 16051, 1028, 12, 2607, 18, 25, 6633, 13, 16, 1985, 18934, 1954, 8549, 1958, 2957, 5489, 8218, 12, 6821, 13, 7139, 1922, 6156, 1006, 10542, 3069, 2193, 25584, 1008, 19776, 2678, 27898, 1036, 18, 4950, 16, 2461, 6084, 3595, 2037, 10379, 2616, 29067, 11819, 17, 7609, 12786, 25729, 1036, 1985, 3265, 18, 3045, 5619, 2333, 3620, 5253, 2192, 6084, 1930, 5379, 1930, 4032, 17, 2712, 7226, 18, 11475, 4794, 8823, 5489, 2333, 1982, 2251, 1942, 4388, 5201, 1920, 2501, 3205, 3183, 8321, 18, 43, 2698, 1927, 8949, 6084, 1985, 2899, 1956, 5857, 5465, 6458, 12, 16466, 13, 6485, 2037, 20, 18, 3472, 1942, 20, 18, 4261, 18, 11270, 17, 2288, 1927, 1920, 3895, 5804, 6084, 3211, 1922, 27102, 3835, 2687, 10682, 3338, 1942, 1920, 7076, 3244, 31, 3158, 6084, 1985, 3330, 1922, 1920, 4465, 16, 2369, 1922, 15778, 16, 3158, 1922, 1920, 23, 11, 17, 8812, 16, 1930, 22, 1922, 1920, 25, 11, 17, 8812, 18, 2288, 7413, 19, 10550, 12, 20266, 13, 1985, 3330, 18, 5656, 3484, 5844, 6084, 12, 16466, 33, 20, 18, 3472, 17, 20, 18, 14838, 13, 1985, 2458, 1956, 5379, 17, 2712, 7226, 12, 58, 33, 20, 18, 3287, 17, 20, 18, 28547, 1028, 13, 18, 6821, 7991, 15231, 8982, 41, 13316, 1922, 1920, 4465, 3031, 1982, 2522, 1942, 2162, 43, 2149, 5545, 5485, 12, 58, 33, 20, 18, 5517, 17, 20, 18, 5713, 13, 1927, 11623, 5259, 16, 3777, 3411, 16, 1930, 13409, 12539, 1922, 10542, 3069, 18, 6821, 7991, 15231, 8982, 41, 13316, 6505, 2192, 22, 1930, 24, 9, 1927, 1920, 2973, 5623, 1922, 3362, 3388, 1930, 5128, 18, 6046, 1927, 1920, 6084, 2014, 20266, 1985, 2458, 1956, 4032, 17, 2712, 7226, 2014, 9448, 1958, 43, 3024, 2899, 4794, 8823, 6730, 1990, 5597, 2590, 1958, 8712, 3256, 3817, 18, 5844, 2308, 2084, 3059, 16051, 1028, 4936, 2278, 3918, 43, 2770, 1922, 1920, 3640, 1927, 3362, 3388, 2308, 2084, 1925, 4415, 2770, 1922, 8712, 3817, 7622, 1922, 10542, 3069, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[ "Two", "new", "beta-globin", "chain", "variants:", "Hb", "Tripoli:", "codon", "26,", "GAG-->GCG", " ", "[beta26(B8)", "Glu-->Ala", "]", "and", "Hb", "Tizi-Ouzou:", "codon", "29,", "GGC-->AGC", " ", "[beta29(B11)", "Gly-->Ser", "]", "are", "described", "on", "the", "first", "exon", "of", "the", "beta-globin", "gene.", "The", "two", "variants", "are", "characterized", "by", "DNA", "sequencing", "and", "mass", "spectrometry", "(MS).", "Hematological", "abnormalities", "were", "found", "in", "the", "two", "carriers.", "The", "presence", "of", "microcytosis", "and", "hypochromia", "is", "explained", "by", "an", "additional", "homozygous", "3.7", "kb", "alpha(+)", "thalassemic", "deletion", "for", "the", "carrier", "of", "Hb", "Tizi-Ouzou.", "Hb", "Tizi-Ouzou", "showed", "a", "slight", "instability", "in", "vitro.", "The", "same", "hematological", "abnormalities", "associated", "with", "anemia", "are", "difficult", "to", "explain", "for", "Hb", "Tripoli's", "carrier", "in", "the", "absence", "of", "an", "alpha-globin", "genes", "abnormality", "and", "could", "suggest", "a", "possible", "abnormal", "splicing." ]

[ 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 1, 0, 0, 0, 0, 1, 2, 2, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 2288, 2814, 4666, 17, 18938, 4659, 4936, 30, 4873, 8027, 8436, 30, 8905, 3179, 16, 9819, 17, 17, 34, 5469, 1029, 37, 4666, 4684, 12, 44, 1025, 13, 9258, 17, 17, 34, 10527, 39, 1930, 4873, 8685, 22030, 17, 17208, 13642, 1032, 30, 8905, 3230, 16, 25408, 17, 17, 34, 21879, 37, 4666, 4539, 12, 10360, 1009, 13, 3376, 17, 17, 34, 2375, 39, 2032, 2910, 1990, 1920, 2561, 7049, 1927, 1920, 4666, 17, 18938, 2359, 18, 1920, 2288, 4936, 2032, 4378, 2007, 2678, 4754, 1930, 3411, 8438, 12, 3012, 13, 18, 17339, 6754, 1985, 2435, 1922, 1920, 2288, 8974, 18, 1920, 2990, 1927, 10572, 2355, 2475, 1930, 20956, 6570, 1947, 2126, 1977, 6094, 2007, 1925, 3281, 9419, 23, 18, 27, 6633, 4595, 12, 15, 13, 20338, 4197, 5541, 1958, 1920, 9685, 1927, 4873, 8685, 22030, 17, 17208, 13642, 1032, 18, 4873, 8685, 22030, 17, 17208, 13642, 1032, 2594, 43, 4964, 9557, 1922, 3596, 18, 1920, 2841, 17339, 6754, 2458, 1956, 10679, 2032, 4571, 1942, 5895, 1958, 4873, 8027, 8436, 11, 61, 9685, 1922, 1920, 3905, 1927, 1925, 4595, 17, 18938, 2628, 14311, 1930, 2578, 3220, 43, 3216, 4552, 8490, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 2, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[ "A", "functional", "polymorphism", "in", "the", "disrupted-in", "schizophrenia", "1", "gene", "is", "associated", "with", "chronic", "fatigue", "syndrome." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 43, 3183, 8218, 1922, 1920, 11138, 17, 1922, 7899, 21, 2359, 1977, 2458, 1956, 3724, 8656, 4741, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[]

[]

[ 2, 3 ]

[ 0, 0 ]

[ 1, 1 ]

[ -100, -100 ]

[ "Alteration", "in", "the", "gene", "encoding", "protein", "tyrosine", "phosphatase", "nonreceptor", "type", "6", "(PTPN6/SHP1)", "may", "contribute", "to", "neutrophilic", "dermatoses." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 10076, 1922, 1920, 2359, 5797, 2213, 6941, 8167, 28309, 3342, 1924, 2601, 26, 12, 28207, 1016, 19, 19033, 1009, 13, 2278, 4672, 1942, 9460, 1935, 13467, 12278, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[]

[]

[ 2, 3 ]

[ 0, 0 ]

[ 1, 1 ]

[ -100, -100 ]

[ "A", "MANBA", "mutation", "resulting", "in", "residual", "beta-mannosidase", "activity", "associated", "with", "severe", "leukoencephalopathy:", "a", "possible", "pseudodeficiency", "variant." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 43, 2323, 7972, 3979, 3864, 1922, 6615, 4666, 17, 7338, 12224, 2455, 2458, 1956, 4010, 5104, 29159, 6522, 30, 43, 3216, 11520, 3695, 19894, 3349, 2589, 6031, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[ "Investigation", "of", "SERPINE1", "genetic", "polymorphism", "in", "Macedonian", "patients", "with", "occlusive", "artery", "disease", "and", "deep", "vein", "thrombosis." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 5630, 1927, 27453, 2053, 1009, 3299, 8218, 1922, 26158, 28615, 3122, 2132, 1956, 28715, 5511, 2573, 1930, 6515, 7920, 11354, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[ "SLURP1", "mutation-impaired", "T-cell", "activation", "in", "a", "family", "with", "mal", "de", "Meleda." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 2788, 1949, 5113, 3979, 17, 5761, 62, 17, 2024, 2936, 1922, 43, 3416, 1956, 3054, 2028, 4221, 19062, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[ "An", "intronic", "polymorphism", "of", "IRF4", "gene", "influences", "gene", "transcription", "in", "vitro", "and", "shows", "a", "risk", "association", "with", "childhood", "acute", "lymphoblastic", "leukemia", "in", "males." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 1925, 20341, 8218, 1927, 14727, 1006, 2359, 8061, 2359, 3213, 1922, 3596, 1930, 3661, 43, 2565, 3279, 1956, 7238, 3939, 24403, 8111, 1922, 5129, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[ "We", "assessed", "the", "association", "between", "common", "variation", "at", "the", "SERPINE1", "(PAI1)", "locus", "and", "myocardial", "infarction", "(MI).", "Haplotype-tagging", "polymorphisms,", "including", "the", "4G/5G", "deletion/insertion", "polymorphism", "and", "seven", "single", "nucleotide", "polymorphisms,", "were", "analysed", "in", "a", "German", "sample", "containing", "3,657", "cases", "with", "MI", "and", "1,211", "controls.", "The", "association", "between", "the", "4G/5G", "polymorphism", "and", "MI", "was", "examined", "in", "a", "meta-analysis", "of", "data", "extracted", "from", "32", "studies", "(13,267", "cases/14,716", "controls).", "In", "addition,", "the", "relation", "between", "the", "4G/5G", "polymorphism", "and", "coronary", "diseases,", "comprising", "MI,", "coronary", "artery", "disease,", "coronary", "heart", "disease,", "or", "the", "acute", "coronary", "syndrome,", "was", "assessed", "in", "a", "combined", "analysis", "enclosing", "43", "studies", "(17,278", "cases/18,039", "controls).", "None", "of", "the", "tagging", "polymorphisms", "was", "associated", "with", "MI", "in", "the", "present", "sample", "(p", "<or=", "0.34).", "The", "adjusted", "odds", "ratio", "(OR)", "for", "4G", "allele", "carriers", "was", "1.02", "(95%", "confidence", "interval", "[CI]", "0.87-1.19)", "compared", "to", "the", "5G5G", "genotype.", "None", "of", "13", "common", "(frequency", ">1.0%)", "8-marker", "haplotypes", "was", "related", "to", "the", "risk", "of", "MI.", "In", "a", "meta-analysis", "specifically", "addressing", "the", "association", "with", "MI,", "no", "elevated", "risk", "was", "found", "in", "the", "carriers", "of", "the", "4G", "allele", "(OR", "1.07,", "95%", "CI", "0.99-1.16;", "p", "=", "0.11).", "A", "more", "general", "combined", "analysis", "of", "coronary", "diseases", "showed", "a", "marginally", "increased", "risk", "in", "4G", "allele", "carriers", "(OR", "1.08,", "95%", "CI", "1.00-1.16;", "p", "=", "0.044).", "In", "essence,", "tagging", "polymorphisms,", "including", "the", "4G/5G", "polymorphism,", "and", "common", "haplotypes", "of", "the", "SERPINE1", "gene", "region", "were", "not", "associated", "with", "MI", "in", "a", "German", "sample,", "and", "no", "compelling", "evidence", "was", "obtained", "for", "a", "relationship", "of", "the", "4G/5G", "polymorphism", "to", "MI", "and", "coronary", "atherosclerosis", "in", "a", "meta-analysis." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 2038, 3683, 1920, 3279, 2192, 3059, 4516, 2019, 1920, 27453, 2053, 1009, 12, 15885, 1009, 13, 6730, 1930, 6497, 8358, 12, 6519, 13, 18, 10949, 17, 22260, 8321, 16, 2710, 1920, 18385, 19, 19950, 5541, 19, 7413, 8218, 1930, 5260, 2957, 5489, 8321, 16, 1985, 6450, 1922, 43, 12194, 2983, 3165, 23, 16, 4459, 1027, 2919, 1956, 6519, 1930, 21, 16, 18196, 3562, 18, 1920, 3279, 2192, 1920, 18385, 19, 19950, 8218, 1930, 6519, 1982, 3572, 1922, 43, 5880, 17, 2333, 1927, 2230, 5210, 2037, 3323, 2351, 12, 2590, 16, 22184, 2919, 19, 2607, 16, 5858, 1016, 3562, 13, 18, 1922, 2459, 16, 1920, 6147, 2192, 1920, 18385, 19, 19950, 8218, 1930, 5846, 3902, 16, 10351, 6519, 16, 5846, 5511, 2573, 16, 5846, 4003, 2573, 16, 2014, 1920, 3939, 5846, 4741, 16, 1982, 3683, 1922, 43, 4252, 2333, 17439, 11934, 3941, 2351, 12, 2752, 16, 21928, 2919, 19, 2654, 16, 24302, 3562, 13, 18, 6046, 1927, 1920, 22260, 8321, 1982, 2458, 1956, 6519, 1922, 1920, 2481, 2983, 12, 58, 32, 2014, 33, 20, 18, 3540, 13, 18, 1920, 4967, 6408, 3400, 12, 2014, 13, 1958, 18385, 5465, 8974, 1982, 21, 18, 5725, 12, 3002, 9, 5203, 4979, 37, 3371, 39, 20, 18, 5783, 17, 21, 18, 2282, 13, 2452, 1942, 1920, 19950, 1015, 1029, 5619, 18, 6046, 1927, 2590, 3059, 12, 3528, 34, 21, 18, 20, 9, 13, 28, 17, 4966, 12149, 1982, 2712, 1942, 1920, 2565, 1927, 6519, 18, 1922, 43, 5880, 17, 2333, 4475, 12160, 1920, 3279, 1956, 6519, 16, 2239, 4664, 2565, 1982, 2435, 1922, 1920, 8974, 1927, 1920, 18385, 5465, 12, 2014, 21, 18, 6627, 16, 3002, 9, 3371, 20, 18, 4922, 17, 21, 18, 2641, 31, 58, 33, 20, 18, 2513, 13, 18, 43, 2253, 3335, 4252, 2333, 1927, 5846, 3902, 2594, 43, 16970, 2502, 2565, 1922, 18385, 5465, 8974, 12, 2014, 21, 18, 6709, 16, 3002, 9, 3371, 21, 18, 2827, 17, 21, 18, 2641, 31, 58, 33, 20, 18, 25994, 13, 18, 1922, 29341, 16, 22260, 8321, 16, 2710, 1920, 18385, 19, 19950, 8218, 16, 1930, 3059, 12149, 1927, 1920, 27453, 2053, 1009, 2359, 3031, 1985, 2084, 2458, 1956, 6519, 1922, 43, 12194, 2983, 16, 1930, 2239, 18911, 3095, 1982, 2926, 1958, 43, 3303, 1927, 1920, 18385, 19, 19950, 8218, 1942, 6519, 1930, 5846, 9824, 1922, 43, 5880, 17, 2333, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[ "BACKGROUND:", "We", "describe", "the", "four", "decades", "follow-up", "of", "14", "parkin", "patients", "belonging", "to", "two", "large", "eight-generation-long", "in-bred", "Muslim-Arab", "kindreds.", "RESULTS:", "All", "patients", "had", "a", "single", "base-pair", "of", "adenine", "deletion", "at", "nucleotide", "202", "of", "exon", "2", "(202A)", "of", "the", "parkin", "gene", "(all", "homozygous,", "one", "heterozygous).", "Parkinson's", "disease", "onset", "age", "was", "17-68", "years.", "Special", "features", "were", "intractable", "axial", "symptoms", "(low", "back", "pain,", "scoliosis,", "camptocormia,", "antecollis),", "postural", "tremor,", "and", "preserved", "cognition.", "CONCLUSIONS:", "The", "202A", "deletion", "of", "the", "parkin", "gene", "causes", "early-onset", "Parkinson's", "disease", "with", "marked", "levodopa/STN-DBS-resistant", "axial", "features.", "Postural", "tremor", "and", "preserved", "cognition,", "even", "after", "40", "years", "of", "disease,", "were", "also", "evident." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 3872, 30, 2038, 5993, 1920, 3006, 8995, 2396, 17, 2353, 1927, 2607, 18337, 2132, 10588, 1942, 2288, 3103, 5066, 17, 4841, 17, 2815, 1922, 17, 19684, 3177, 7265, 17, 7165, 6925, 3510, 1036, 18, 2274, 30, 2136, 2132, 2430, 43, 2957, 5170, 17, 3715, 1927, 15643, 5541, 2019, 5489, 17401, 1927, 7049, 22, 12, 17401, 1019, 13, 1927, 1920, 18337, 2359, 12, 2136, 9419, 16, 2340, 9589, 13, 18, 10124, 11, 61, 2573, 4727, 2632, 1982, 2752, 17, 5117, 2739, 18, 5180, 4075, 1985, 26032, 9438, 3601, 12, 2330, 3231, 3594, 16, 23534, 16, 6225, 4575, 4879, 23745, 2126, 16, 22764, 2201, 1937, 13, 16, 17198, 18388, 16, 1930, 10502, 10032, 18, 4355, 30, 1920, 17401, 1019, 5541, 1927, 1920, 18337, 2359, 5092, 3120, 17, 4727, 10124, 11, 61, 2573, 1956, 4961, 26723, 19, 21667, 17, 14591, 17, 4910, 9438, 4075, 18, 17198, 18388, 1930, 10502, 10032, 16, 3385, 2256, 3040, 2739, 1927, 2573, 16, 1985, 2222, 7501, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[ "BACKGROUND:", "beta-Mannosidosis", "(OMIM", "248510)", "is", "a", "rare", "inborn", "lysosomal", "storage", "disorder", "caused", "by", "the", "deficient", "activity", "of", "beta-mannosidase,", "an", "enzyme", "encoded", "by", "a", "single", "gene", "(MANBA)", "located", "on", "chromosome", "4q22-25.", "To", "date,", "only", "20", "cases", "of", "this", "autosomal", "recessive", "disorder", "have", "been", "described", "and", "14", "different", "MANBA", "mutations", "were", "incriminated", "in", "the", "disease.", "These", "are", "all", "null", "mutations", "or", "missense", "mutations", "that", "abolish", "beta-mannosidase", "activity.", "In", "this", "study,", "we", "characterized", "the", "molecular", "defect", "of", "a", "new", "case", "of", "beta-mannosidosis,", "presenting", "with", "a", "severe", "neurological", "disorder.", "METHODS:", "Genomic", "DNA", "was", "isolated", "from", "peripheral", "blood", "leukocytes", "of", "the", "patient", "to", "allow", "MANBA", "sequencing.", "The", "identified", "mutation", "was", "engineered", "by", "site-directed", "mutagenesis", "and", "the", "mutant", "protein", "was", "expressed", "through", "transient", "transfection", "in", "HEK293T", "cells.", "The", "beta-mannosidase", "expression", "and", "activity", "were", "respectively", "assessed", "by", "Western", "blot", "and", "fluorometric", "assay", "in", "both", "leukocytes", "and", "HEK293T", "cells.", "RESULTS:", "A", "missense", "disease-associated", "mutation,", "c.1922G>A", " ", "(", "p.Arg641His", "),", "was", "identified", "for", "which", "the", "patient", "was", "homozygous.", "In", "contrast", "to", "previously", "described", "missense", "mutations,", "this", "substitution", "does", "not", "totally", "abrogate", "the", "enzyme", "activity", "but", "led", "to", "a", "residual", "activity", "of", "about", "7%", "in", "the", "patient's", "leukocytes,", "11%", "in", "lymphoblasts", "and", "14%", "in", "plasma.", "Expression", "studies", "in", "transfected", "cells", "also", "resulted", "in", "7%", "residual", "activity.", "CONCLUSION:", "Correlations", "between", "MANBA", "mutations,", "residual", "activity", "of", "beta-mannosidase", "and", "the", "severity", "of", "the", "ensuing", "neurological", "disorder", "are", "discussed.", "Whether", "the", "c.1922G>A", " ", "mutation", "is", "responsible", "for", "a", "yet", "undescribed", "pseudodeficiency", "of", "beta-mannosidase", "is", "also", "discussed." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 3872, 30, 4666, 17, 7338, 27545, 22389, 8362, 12, 26254, 21103, 7912, 1008, 13, 1977, 43, 5844, 1922, 23419, 12097, 7451, 4770, 4189, 2007, 1920, 5778, 2455, 1927, 4666, 17, 7338, 12224, 16, 1925, 4113, 7905, 2007, 43, 2957, 2359, 12, 2323, 7972, 13, 4810, 1990, 5597, 24, 23470, 1028, 17, 2637, 18, 1942, 5699, 16, 2444, 2036, 2919, 1927, 2052, 13027, 13992, 4770, 2162, 2252, 2910, 1930, 2607, 2413, 2323, 7972, 3527, 1985, 2043, 3027, 8547, 1981, 1922, 1920, 2573, 18, 2144, 2032, 2136, 6764, 3527, 2014, 13519, 3527, 1988, 18741, 4666, 17, 7338, 12224, 2455, 18, 1922, 2052, 2161, 16, 2038, 4378, 1920, 3272, 7374, 1927, 43, 2814, 3087, 1927, 4666, 17, 7338, 27545, 22389, 8362, 16, 8326, 1956, 43, 4010, 7605, 4770, 18, 2860, 30, 4935, 2678, 1982, 3937, 2037, 5009, 2877, 12257, 1927, 1920, 2774, 1942, 3235, 2323, 7972, 4754, 18, 1920, 2899, 3979, 1982, 11091, 2007, 3200, 17, 6554, 10017, 1930, 1920, 3606, 2213, 1982, 3198, 2596, 6809, 6496, 1922, 17168, 2094, 18, 1920, 4666, 17, 7338, 12224, 2294, 1930, 2455, 1985, 2763, 3683, 2007, 4540, 4918, 1930, 16191, 14578, 3133, 3381, 1922, 2321, 12257, 1930, 17168, 2094, 18, 2274, 30, 43, 13519, 2573, 17, 2458, 3979, 16, 45, 18, 15249, 1028, 1029, 34, 43, 12, 58, 18, 4582, 8760, 1009, 17210, 13, 16, 1982, 2899, 1958, 2154, 1920, 2774, 1982, 9419, 18, 1922, 3320, 1942, 3024, 2910, 13519, 3527, 16, 2052, 6636, 3731, 2084, 15616, 13921, 2010, 1920, 4113, 2455, 2308, 4866, 1942, 43, 6615, 2455, 1927, 3001, 27, 9, 1922, 1920, 2774, 11, 61, 12257, 16, 2513, 9, 1922, 3541, 10088, 1930, 2607, 9, 1922, 3582, 18, 2294, 2351, 1922, 5176, 2094, 2222, 4306, 1922, 27, 9, 6615, 2455, 18, 4180, 30, 6100, 2192, 2323, 7972, 3527, 16, 6615, 2455, 1927, 4666, 17, 7338, 12224, 1930, 1920, 5155, 1927, 1920, 28026, 7605, 4770, 2032, 5601, 18, 3053, 1920, 45, 18, 15249, 1028, 1029, 34, 43, 3979, 1977, 5061, 1958, 43, 4898, 16279, 6514, 11520, 3695, 19894, 3349, 2589, 1927, 4666, 17, 7338, 12224, 1977, 2222, 5601, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 2, 2, 0, 1, 2, 2, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[ "BACKGROUND:", "Oculopharyngeal", "muscular", "dystrophy", "(OPMD)", "is", "a", "late", "onset", "autosomal", "dominant", "muscle", "disorder.", "OPMD", "is", "caused", "by", "a", "short", "trinucleotide", "repeat", "expansion", "encoding", "an", "expanded", "polyalanine", "tract", "in", "the", "polyadenylate", "binding-protein", "nuclear", "1", "(PABPN1)", "gene.", "We", "identified", "and", "characterized", "a", "PABPN1", "mutation", "in", "a", "Taiwanese", "family", "with", "OPMD.", "METHODS:", "The", "phenotypic", "and", "genotypic", "characteristics", "of", "all", "subjects", "were", "evaluated", "in", "a", "Taiwanese", "OPMD", "family.", "Genetic", "alterations", "in", "the", "PABPN1", "gene", "were", "identified", "using", "PCR", "and", "DNA", "sequencing.", "RESULTS:", "Ten", "subjects", "with", "OPMD", "(6", "symptomatic", "and", "4", "asymptomatic)", "within", "the", "Taiwanese", "family", "carried", "a", "novel", "mutation", "in", "the", "PABPN1", "gene.", "The", "normal", "(GCG)6(GCA)3GCG", "sequence", "was", "replaced", "by", "(GCG)6(GCA)(GCG)4(GCA)3GCG", "due", "to", "an", "insertion", "of", "(GCG)4GCA", "into", "the", "normal", "allele", "in", "the", "Taiwanese", "OPMD", "subjects.", "CONCLUSIONS:", "In", "contrast", "to", "a", "single", "GCG", "expansion", "in", "most", "of", "OPMD", "patients", "in", "the", "literature,", "an", "insertion", "of", "(GCG)4GCA", "in", "the", "PABPN1", "gene", "was", "found", "in", "the", "Taiwanese", "OPMD", "subjects.", "The", "identification", "of", "this", "mutation", "appears", "to", "support", "the", "molecular", "mechanism", "of", "unequal", "cross-over", "of", "two", "PABPN1", "alleles." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 3872, 30, 25669, 18707, 12330, 19321, 12, 2494, 13620, 13, 1977, 43, 5058, 4727, 13027, 6379, 3760, 4770, 18, 2494, 13620, 1977, 4189, 2007, 43, 3662, 23501, 15274, 6865, 7013, 5797, 1925, 8899, 4286, 15769, 6482, 1922, 1920, 20920, 9075, 2743, 17, 2213, 4254, 21, 12, 16995, 27257, 1009, 13, 2359, 18, 2038, 2899, 1930, 4378, 43, 16995, 27257, 1009, 3979, 1922, 43, 12760, 2124, 3416, 1956, 2494, 13620, 18, 2860, 30, 1920, 8189, 1930, 19251, 3779, 1927, 2136, 3297, 1985, 3747, 1922, 43, 12760, 2124, 2494, 13620, 3416, 18, 3299, 5996, 1922, 1920, 16995, 27257, 1009, 2359, 1985, 2899, 2193, 3343, 1930, 2678, 4754, 18, 2274, 30, 5656, 3297, 1956, 2494, 13620, 12, 26, 9371, 1930, 24, 9978, 13, 2651, 1920, 12760, 2124, 3416, 4371, 43, 4008, 3979, 1922, 1920, 16995, 27257, 1009, 2359, 18, 1920, 2791, 12, 5469, 1029, 13, 26, 12, 21099, 13, 18223, 1030, 1029, 3244, 1982, 8403, 2007, 12, 5469, 1029, 13, 26, 12, 21099, 13, 12, 5469, 1029, 13, 24, 12, 21099, 13, 18223, 1030, 1029, 2810, 1942, 1925, 7413, 1927, 12, 5469, 1029, 13, 18385, 3375, 2460, 1920, 2791, 5465, 1922, 1920, 12760, 2124, 2494, 13620, 3297, 18, 4355, 30, 1922, 3320, 1942, 43, 2957, 5469, 1029, 7013, 1922, 2501, 1927, 2494, 13620, 2132, 1922, 1920, 4431, 16, 1925, 7413, 1927, 12, 5469, 1029, 13, 18385, 3375, 1922, 1920, 16995, 27257, 1009, 2359, 1982, 2435, 1922, 1920, 12760, 2124, 2494, 13620, 3297, 18, 1920, 4824, 1927, 2052, 3979, 5107, 1942, 3373, 1920, 3272, 2856, 1927, 21894, 3567, 17, 2338, 1927, 2288, 16995, 27257, 1009, 7096, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[]

[]

[ 2, 3 ]

[ 0, 0 ]

[ 1, 1 ]

[ -100, -100 ]

[ "Functional", "inactivation", "of", "the", "WTX", "gene", "is", "not", "a", "frequent", "event", "in", "Wilms'", "tumors." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 3183, 8005, 1927, 1920, 3751, 1039, 2359, 1977, 2084, 43, 6439, 4817, 1922, 8534, 2800, 11, 3861, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[ "Exploratory", "investigation", "on", "functional", "significance", "of", "ETS2", "and", "SIM2", "genes", "in", "Down", "syndrome." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 12733, 5630, 1990, 3183, 4550, 1927, 15467, 1028, 1930, 2328, 1028, 2628, 1922, 3292, 4741, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[]

[]

[ 2, 3 ]

[ 0, 0 ]

[ 1, 1 ]

[ -100, -100 ]

[ "Clinical", "and", "genetic", "characterization", "of", "manifesting", "carriers", "of", "DMD", "mutations." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 2535, 1930, 3299, 7285, 1927, 7943, 1941, 8974, 1927, 20646, 3527, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[]

[]

[ 2, 3 ]

[ 0, 0 ]

[ 1, 1 ]

[ -100, -100 ]

[ "PURPOSE:", "To", "identify", "the", "chromosomal", "location", "of", "the", "gene", "causing", "snowflake", "vitreoretinal", "degeneration", "(SVD),", "an", "autosomal", "dominant", "retinal", "degeneration", "characterized", "by", "small", "yellow-white", "dots", "in", "the", "retina,", "fibrillar", "anomaly", "of", "the", "vitreous", "humor,", "and", "retinal", "detachment.", "METHODS:", "Clinical", "data", "were", "collected", "on", "31", "family", "members", "by", "history", "and", "examination.", "Thirteen", "family", "members", "underwent", "prospective", "examination.", "Genotyping", "was", "performed", "using", "microsatellite", "markers", "spaced", "at", "approximately", "10", "cM", "intervals.", "Two-point", "and", "multipoint", "linkage", "analysis", "was", "performed", "(FASTLINK", "version", "of", "the", "MLINK", "program", "and", "the", "VITESSE", "algorithm,", "both", "available", "at", "http://linkage.rockefeller.edu/soft/list.html).", "Direct", "DNA", "sequencing", "of", "amplified", "genomic", "DNA", "and", "mRNA", "was", "performed", "for", "candidate", "gene", "analysis.", "RESULTS:", "The", "SVD", "locus", "was", "linked", "to", "markers", "in", "a", "region", "of", "chromosome", "2q36", "defined", "by", "D2S2158", "and", "D2S2202,", "based", "on", "meiotic", "breakpoint", "mapping", "of", "affected", "individuals.", "A", "maximum", "two-point", "lod", "score", "of", "5.5", "was", "obtained", "with", "marker", "D2S172", "at", "theta;", "=", "0", "within", "this", "region.", "Direct", "DNA", "sequencing", "of", "all", "52", "exons", "of", "the", "COL4A3", "gene", "revealed", "no", "potentially", "pathogenic", "coding", "sequence", "variation", "or", "evidence", "for", "deletion.", "CONCLUSIONS:", "The", "genetic", "locus", "for", "SVD", "lies", "in", "a", "9", "Mb", "region", "flanked", "by", "D2S2158", "and", "D2S2202.", "Localization", "of", "SVD", "to", "a", "genomic", "region", "distinct", "from", "both", "Wagner", "disease", "and", "the", "Stickler", "syndromes", "indicates", "that", "SVD", "is", "a", "distinct", "genetic", "entity.", "The", "absence", "of", "coding", "sequence", "variation", "in", "the", "only", "collagen", "gene", "within", "the", "disease-region,", "suggests", "a", "novel", "pathogenesis", "for", "vitreoretinal", "degeneration.", "Snowflake", "vitreoretinal", "degeneration", "should", "be", "considered", "in", "the", "differential", "diagnosis", "of", "families", "with", "fibrillar", "anomaly", "of", "the", "vitreous." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 5120, 30, 1942, 3512, 1920, 9220, 5185, 1927, 1920, 2359, 7538, 19246, 2911, 2934, 16986, 28771, 1923, 9174, 12, 6456, 1007, 13, 16, 1925, 13027, 6379, 6943, 9174, 4378, 2007, 2858, 7463, 17, 4511, 11838, 1922, 1920, 9544, 16, 24271, 20950, 1927, 1920, 19306, 27762, 16, 1930, 6943, 16293, 18, 2860, 30, 2535, 2230, 1985, 3651, 1990, 3470, 3416, 4678, 2007, 4403, 1930, 4981, 18, 18468, 3416, 4678, 5468, 6315, 4981, 18, 10667, 1982, 2593, 2193, 16069, 4432, 19303, 2019, 3993, 2119, 3195, 6087, 18, 2288, 17, 3575, 1930, 20677, 4418, 8611, 2333, 1982, 2593, 12, 5867, 10417, 4671, 1927, 1920, 2646, 2839, 3688, 1930, 1920, 5208, 1979, 1021, 5457, 16, 2321, 3322, 2019, 5894, 30, 19, 19, 8611, 18, 9093, 7726, 13728, 18, 11941, 19, 3793, 19, 6069, 18, 16890, 13, 18, 3083, 2678, 4754, 1927, 7006, 4935, 2678, 1930, 3616, 1982, 2593, 1958, 6610, 2359, 2333, 18, 2274, 30, 1920, 6456, 1007, 6730, 1982, 4624, 1942, 4432, 1922, 43, 3031, 1927, 5597, 22, 1055, 5677, 3608, 2007, 8631, 13262, 22633, 1930, 8631, 13262, 18406, 16, 2454, 1990, 16205, 24698, 7084, 1927, 4218, 3445, 18, 43, 4419, 2288, 17, 3575, 15187, 3593, 1927, 25, 18, 25, 1982, 2926, 1956, 4966, 8631, 12030, 10180, 2019, 14646, 31, 33, 20, 2651, 2052, 3031, 18, 3083, 2678, 4754, 1927, 2136, 4764, 10419, 1927, 1920, 2503, 9458, 1010, 2359, 3404, 2239, 5063, 8070, 5804, 3244, 4516, 2014, 3095, 1958, 5541, 18, 4355, 30, 1920, 3299, 6730, 1958, 6456, 1007, 13978, 1922, 43, 29, 5667, 3031, 20185, 2007, 8631, 13262, 22633, 1930, 8631, 13262, 18406, 18, 5363, 1927, 6456, 1007, 1942, 43, 4935, 3031, 4493, 2037, 2321, 27592, 2573, 1930, 1920, 19774, 3823, 12688, 4538, 1988, 6456, 1007, 1977, 43, 4493, 3299, 14866, 18, 1920, 3905, 1927, 5804, 3244, 4516, 1922, 1920, 2444, 5621, 2359, 2651, 1920, 2573, 17, 3031, 16, 4015, 43, 4008, 6559, 1958, 16986, 28771, 1923, 9174, 18, 19246, 2911, 2934, 16986, 28771, 1923, 9174, 3066, 1998, 3311, 1922, 1920, 5611, 3574, 1927, 5767, 1956, 24271, 20950, 1927, 1920, 19306, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[]

[]

[ 2, 3 ]

[ 0, 0 ]

[ 1, 1 ]

[ -100, -100 ]

[ "Subfertility", "in", "mice", "harboring", "a", "mutation", "in", "betaB2-crystallin." ]

[ 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 12967, 3062, 2275, 1922, 2518, 12827, 43, 3979, 1922, 4666, 8520, 17, 24572, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[]

[]

[ 2, 3 ]

[ 0, 0 ]

[ 1, 1 ]

[ -100, -100 ]

[]

[]

[ 2, 3 ]

[ 0, 0 ]

[ 1, 1 ]

[ -100, -100 ]

[ "Skewed", "X", "inactivation", "in", "an", "X", "linked", "nystagmus", "family", "resulted", "from", "a", "novel,", "p.R229G", ",", "missense", "mutation", "in", "the", "FRMD7", "gene." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 18614, 66, 8005, 1922, 1925, 66, 4624, 26133, 11431, 1957, 3416, 4306, 2037, 43, 4008, 16, 58, 18, 7261, 4539, 1029, 16, 13519, 3979, 1922, 1920, 2415, 13620, 1027, 2359, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[ "Macular", "corneal", "dystrophy", "in", "a", "Chinese", "family", "related", "with", "novel", "mutations", "of", "CHST6." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 14453, 9990, 19321, 1922, 43, 7185, 3416, 2712, 1956, 4008, 3527, 1927, 22387, 1031, 1016, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[]

[]

[ 2, 3 ]

[ 0, 0 ]

[ 1, 1 ]

[ -100, -100 ]

[ "DNA", "repair", "gene", "polymorphisms", "in", "relation", "to", "chromosome", "aberration", "frequencies", "in", "retired", "radiation", "workers." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 2678, 5059, 2359, 8321, 1922, 6147, 1942, 5597, 27012, 6458, 1922, 23441, 1007, 5442, 7066, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[ "Association", "of", "microsomal", "epoxide", "hydrolase", "polymorphisms", "and", "lung", "cancer", "risk." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 3279, 1927, 22133, 28792, 20748, 8321, 1930, 3614, 2539, 2565, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[ "BACKGROUND:", "Gastric", "carcinoma", "is", "widely", "considered", "to", "be", "related", "to", "Helicobacter", "pylori", "infection,", "and", "the", "chemokine", "(C-C", "motif)", "ligand", "22", "(CCL22)", "plays", "an", "important", "role", "in", "suppressing", "immune", "responses", "against", "H.", "pylori", "and", "tumor", "cells.", "In", "this", "study,", "the", "authors", "examined", "the", "association", "between", "single", "nucleotide", "polymorphisms", "(SNPs)", "in", "the", "CCL22", "gene", "and", "the", "risk", "of", "gastric", "carcinoma.", "METHODS:", "Information", "on", "SNPs", "in", "the", "CCL22", "coding", "region", "was", "obtained", "from", "the", "HapMap", "Project", "database.", "Genotypes", "were", "determined", "in", "a", "case-control", "cohort", "that", "consisted", "of", "1001", "patients", "with", "gastric", "carcinoma", "and", "1066", "controls,", "and", "odds", "ratios", "(ORs)", "and", "95%", "confidence", "intervals", "(95%", "CIs)", "were", "computed", "by", "using", "a", "logistic", "regression", "model.", "Serum", "H.", "pylori", "antibody", "levels", "were", "measured", "by", "using", "an", "enzyme-linked", "immunosorbent", "assay.", "RESULTS:", "The", "16C-->A", " ", "SNP", "(", "reference", "SNP", "no.", "4359426", ")", "in", "exon", "1", "of", "the", "CCL22", "gene,", "which", "causes", "a", "2", "aspartate", "(2Asp)", "to", "2", "alanine", "(2Ala)", "substitution", "in", "the", "CCL22", "protein,", "was", "associated", "with", "a", "significantly", "increased", "risk", "of", "gastric", "carcinoma.", "Individuals", "who", "were", "homozygous", "for", "the", "Ala/Ala", "genotype", "had", "an", "OR", "of", "2.27", "(95%", "CI,", "1.28-4.02)", "compared", "with", "individuals", "who", "had", "the", "Asp/Asp", "genotype.", "Stratification", "analysis", "indicated", "that", "the", "association", "was", "more", "pronounced", "among", "men", "(OR,", "2.64;", "95%", "CI,", "1.29-5.41)", "and", "among", "younger", "individuals", "(OR,", "2.85;", "95%", "CI,", "1.36-5.96)", "compared", "with", "women", "and", "older", "individuals.", "Moreover,", "a", "multiplicative", "joint", "effect", "between", "the", "CCL22", "SNP", "and", "H.", "pylori", "infection", "that", "intensified", "the", "risk", "was", "observed", "(OR", "for", "the", "presence", "of", "both", "Ala/Ala", "genotype", "and", "H.", "pylori", "infection,", "18.37;", "95%", "CI,", "2.30-146.67).", "CONCLUSIONS:", "The", "results", "from", "this", "study", "suggested", "that", "the", "CCL22", "polymorphism", "is", "associated", "with", "an", "increase", "risk", "of", "developing", "H.", "pylori", "infection-related", "gastric", "carcinoma." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 1, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 3872, 30, 6319, 5373, 1977, 5673, 3311, 1942, 1998, 2712, 1942, 22293, 10665, 2909, 16, 1930, 1920, 11673, 12, 45, 17, 45, 5219, 13, 5207, 2950, 12, 18280, 1028, 13, 5705, 1925, 2715, 2770, 1922, 13556, 3743, 3387, 3316, 50, 18, 10665, 1930, 2798, 2094, 18, 1922, 2052, 2161, 16, 1920, 3875, 3572, 1920, 3279, 2192, 2957, 5489, 8321, 12, 6084, 13, 1922, 1920, 18280, 1028, 2359, 1930, 1920, 2565, 1927, 6319, 5373, 18, 2860, 30, 2988, 1990, 6084, 1922, 1920, 18280, 1028, 5804, 3031, 1982, 2926, 2037, 1920, 26249, 5539, 5039, 18, 7059, 1985, 3180, 1922, 43, 3087, 17, 2285, 4382, 1988, 6994, 1927, 2813, 1009, 2132, 1956, 6319, 5373, 1930, 7758, 1016, 3562, 16, 1930, 6408, 5835, 12, 14957, 13, 1930, 3002, 9, 5203, 6087, 12, 3002, 9, 5848, 13, 1985, 6287, 2007, 2193, 43, 6933, 4165, 2322, 18, 3256, 50, 18, 10665, 3533, 2428, 1985, 3045, 2007, 2193, 1925, 4113, 17, 4624, 16083, 3381, 18, 2274, 30, 1920, 2641, 1030, 17, 17, 34, 43, 6821, 12, 4386, 6821, 2239, 18, 23079, 11226, 4684, 13, 1922, 7049, 21, 1927, 1920, 18280, 1028, 2359, 16, 2154, 5092, 43, 22, 12878, 12, 5251, 3508, 13, 1942, 22, 10504, 12, 5251, 5148, 13, 6636, 1922, 1920, 18280, 1028, 2213, 16, 1982, 2458, 1956, 43, 2567, 2502, 2565, 1927, 6319, 5373, 18, 3445, 2746, 1985, 9419, 1958, 1920, 10527, 19, 10527, 5619, 2430, 1925, 2014, 1927, 22, 18, 3225, 12, 3002, 9, 3371, 16, 21, 18, 3158, 17, 24, 18, 5725, 13, 2452, 1956, 3445, 2746, 2430, 1920, 4138, 19, 4138, 5619, 18, 12881, 2333, 3391, 1988, 1920, 3279, 1982, 2253, 9079, 2706, 3925, 12, 2014, 16, 22, 18, 4723, 31, 3002, 9, 3371, 16, 21, 18, 3230, 17, 25, 18, 4353, 13, 1930, 2706, 7237, 3445, 12, 2014, 16, 22, 18, 5140, 31, 3002, 9, 3371, 16, 21, 18, 3480, 17, 25, 18, 4746, 13, 2452, 1956, 3089, 1930, 4706, 3445, 18, 3950, 16, 43, 26899, 2178, 6047, 2495, 2192, 1920, 18280, 1028, 6821, 1930, 50, 18, 10665, 2909, 1988, 27294, 1920, 2565, 1982, 2528, 12, 2014, 1958, 1920, 2990, 1927, 2321, 10527, 19, 10527, 5619, 1930, 50, 18, 10665, 2909, 16, 2654, 18, 3191, 31, 3002, 9, 3371, 16, 22, 18, 2627, 17, 13402, 18, 4838, 13, 18, 4355, 30, 1920, 2274, 2037, 2052, 2161, 3978, 1988, 1920, 18280, 1028, 8218, 1977, 2458, 1956, 1925, 2760, 2565, 1927, 5130, 50, 18, 10665, 2909, 17, 2712, 6319, 5373, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 2, 0, 0, 1, 2, 2, 2, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[]

[]

[ 2, 3 ]

[ 0, 0 ]

[ 1, 1 ]

[ -100, -100 ]

[ "BACKGROUND:", "Prohormone", "convertase", "1", "is", "involved", "in", "maturation", "of", "peptides.", "Rare", "mutations", "in", "gene", "PCSK1,", "encoding", "this", "enzyme,", "cause", "childhood", "obesity", "and", "abnormal", "glucose", "homeostasis", "with", "elevated", "proinsulin", "concentrations.", "Common", "single", "nucleotide", "polymorphisms", "(SNPs)", "within", "this", "gene,", "rs6232", " ", "and", "rs6235", ",", "are", "associated", "with", "obesity.", "We", "studied", "whether", "these", "SNPs", "influence", "the", "prediabetic", "traits", "insulin", "resistance,", "beta-cell", "dysfunction,", "or", "glucose", "intolerance.", "METHODS:", "We", "genotyped", "1498", "German", "subjects", "for", "SNPs", "rs6232", " ", "and", "rs6235", " ", "within", "PCSK1.", "The", "subjects", "were", "metabolically", "characterized", "by", "oral", "glucose", "tolerance", "test", "with", "glucose,", "insulin,", "proinsulin,", "and", "C-peptide", "measurements.", "A", "subgroup", "of", "512", "subjects", "underwent", "a", "hyperinsulinemic-euglycemic", "clamp.", "RESULTS:", "The", "minor", "allele", "frequencies", "were", "25.8%", "for", "SNP", "rs6235", " ", "and", "6.0%", "for", "rs6232", ".", "After", "adjustment", "for", "sex", "and", "age,", "we", "found", "no", "association", "of", "SNPs", "rs6235", " ", "and", "rs6232", " ", "with", "BMI", "or", "other", "weight-related", "traits", "(all", "p", ">or=", "0.07).", "Both", "minor", "alleles,", "adjusted", "for", "sex,", "age,", "BMI", "and", "insulin", "sensitivity", "were", "associated", "with", "elevated", "AUCproinsulin", "and", "AUCproinsulin/AUCinsulin", "(", "rs6235", ":", "p(additive)", "model", "<or=", "0.009,", "effect", "sizes", "8/8%,", "rs6232", ":", "pdominant", "model", "<or=", "0.01,", "effect", "sizes", "10/21%).", "Insulin", "secretion", "was", "not", "affected", "by", "the", "variants", "(different", "secretion", "parameters,", "all", "p", ">or=", "0.08).", "The", "minor", "allele", "of", "SNP", "rs6232", " ", "was", "additionally", "associated", "with", "15%", "higher", "OGTT-derived", "and", "19%", "higher", "clamp-derived", "insulin", "sensitivity", "(pdom", "<or=", "0.0047),", "4.5%", "lower", "HOMAIR", "(pdom", "=", "0.02)", "and", "3.5%", "lower", "120-min", "glucose", "(pdom", "=", "0.0003)", "independently", "of", "BMI", "and", "proinsulin", "conversion.", "SNP", "rs6235", " ", "was", "not", "associated", "with", "parameters", "of", "glucose", "metabolism.", "CONCLUSIONS:", "Like", "rare", "mutations", "in", "PCSK1,", "the", "more", "common", "variants", "tested", "determine", "glucose-stimulated", "proinsulin", "conversion,", "but", "not", "insulin", "secretion.", "In", "addition,", "rs6232", ",", "encoding", "the", "amino", "acid", "exchange", "N221D", ",", "influences", "insulin", "sensitivity", "and", "glucose", "homeostasis." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 3872, 30, 1965, 10647, 23745, 2290, 14450, 2051, 21, 1977, 3286, 1922, 7655, 1927, 5320, 18, 5844, 3527, 1922, 2359, 11291, 4835, 16, 5797, 2052, 4113, 16, 3936, 7238, 5379, 1930, 4552, 3817, 7622, 1956, 4664, 1965, 18102, 3295, 18, 3059, 2957, 5489, 8321, 12, 6084, 13, 2651, 2052, 2359, 16, 4366, 8166, 6763, 1930, 4366, 8166, 5798, 16, 2032, 2458, 1956, 5379, 18, 2038, 3942, 3053, 2144, 6084, 4039, 1920, 2598, 24297, 7226, 4122, 3554, 16, 4666, 17, 2024, 5273, 16, 2014, 3817, 19202, 18, 2860, 30, 2038, 14401, 14094, 1025, 12194, 3297, 1958, 6084, 4366, 8166, 6763, 1930, 4366, 8166, 5798, 2651, 11291, 4835, 18, 1920, 3297, 1985, 21220, 4378, 2007, 4726, 3817, 6555, 2648, 1956, 3817, 16, 4122, 16, 1965, 18102, 16, 1930, 45, 17, 4207, 4146, 18, 43, 6200, 1927, 20094, 3297, 5468, 43, 21756, 4197, 17, 17220, 19602, 4197, 10209, 18, 2274, 30, 1920, 5857, 5465, 6458, 1985, 2637, 18, 28, 9, 1958, 6821, 4366, 8166, 5798, 1930, 26, 18, 20, 9, 1958, 4366, 8166, 6763, 18, 2256, 7970, 1958, 3486, 1930, 2632, 16, 2038, 2435, 2239, 3279, 1927, 6084, 4366, 8166, 5798, 1930, 4366, 8166, 6763, 1956, 5259, 2014, 2303, 3388, 17, 2712, 7226, 12, 2136, 58, 34, 2014, 33, 20, 18, 6627, 13, 18, 2321, 5857, 7096, 16, 4967, 1958, 3486, 16, 2632, 16, 5259, 1930, 4122, 3802, 1985, 2458, 1956, 4664, 7910, 2216, 18102, 1930, 7910, 2216, 18102, 19, 7910, 18102, 12, 4366, 8166, 5798, 30, 58, 12, 10359, 13, 2322, 32, 2014, 33, 20, 18, 14838, 16, 2495, 6562, 28, 19, 28, 9, 16, 4366, 8166, 6763, 30, 3203, 1947, 3560, 2322, 32, 2014, 33, 20, 18, 3287, 16, 2495, 6562, 2119, 19, 2900, 9, 13, 18, 4122, 5512, 1982, 2084, 4218, 2007, 1920, 4936, 12, 2413, 5512, 3673, 16, 2136, 58, 34, 2014, 33, 20, 18, 6709, 13, 18, 1920, 5857, 5465, 1927, 6821, 4366, 8166, 6763, 1982, 4950, 2458, 1956, 2461, 9, 2580, 24540, 17, 3595, 1930, 2282, 9, 2580, 10209, 17, 3595, 4122, 3802, 12, 3203, 1947, 32, 2014, 33, 20, 18, 11373, 1027, 13, 16, 24, 18, 25, 9, 2826, 17229, 1996, 12, 3203, 1947, 33, 20, 18, 5725, 13, 1930, 23, 18, 25, 9, 2826, 6103, 17, 2360, 3817, 12, 3203, 1947, 33, 20, 18, 25209, 13, 6407, 1927, 5259, 1930, 1965, 18102, 7309, 18, 6821, 4366, 8166, 5798, 1982, 2084, 2458, 1956, 3673, 1927, 3817, 4714, 18, 4355, 30, 3189, 5844, 3527, 1922, 11291, 4835, 16, 1920, 2253, 3059, 4936, 3620, 3415, 3817, 17, 5449, 1965, 18102, 7309, 16, 2308, 2084, 4122, 5512, 18, 1922, 2459, 16, 4366, 8166, 6763, 16, 5797, 1920, 3835, 2687, 6818, 9585, 4716, 1007, 16, 8061, 4122, 3802, 1930, 3817, 7622, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[ "A", "novel", "\"pearl", "box\"", "cataract", "associated", "with", "a", "mutation", "in", "the", "connexin", "46", "(GJA3)", "gene." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 43, 4008, 6, 8893, 1024, 5758, 6, 14833, 2458, 1956, 43, 3979, 1922, 1920, 25599, 4182, 12, 19508, 12779, 13, 2359, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[ "Deletion", "of", "chromosome", "6q14-q22", "is", "common", "in", "multiple", "human", "cancers", "including", "prostate", "cancer,", "and", "chromosome", "6", "transferred", "into", "cancer", "cells", "induces", "senescence", "and", "reduces", "cell", "growth,", "tumorigenicity", "and", "metastasis,", "indicating", "the", "existence", "of", "one", "or", "more", "tumor-suppressor", "genes", "in", "6q.", "To", "identify", "the", "6q", "tumor-suppressor", "gene,", "we", "first", "narrowed", "the", "common", "region", "of", "deletion", "to", "a", "2.5", "Mb", "interval", "at", "6q14-15.", "Of", "the", "11", "genes", "located", "in", "this", "minimal", "deletion", "region", "and", "expressed", "in", "normal", "prostates,", "only", "snoRNA", "U50", "was", "mutated,", "demonstrated", "transcriptional", "downregulation", "and", "inhibited", "colony", "formation", "in", "prostate", "cancer", "cells.", "The", "mutation,", "a", "homozygous", "2", "bp", "(TT)", "deletion,", "was", "found", "in", "two", "of", "30", "prostate", "cancer", "cell", "lines/xenografts", "and", "nine", "of", "89", "localized", "prostate", "cancers", "(eleven", "of", "119", "or", "9%", "cancers).", "Two", "of", "89", "(2%)", "patients", "with", "prostate", "cancer", "also", "showed", "the", "same", "mutation", "in", "their", "germline", "DNA,", "but", "none", "of", "104", "cancer-free", "control", "men", "did.", "The", "homozygous", "deletion", "abolished", "U50", "function", "in", "a", "colony", "formation", "assay.", "Analysis", "of", "1371", "prostate", "cancer", "cases", "and", "1371", "matched", "control", "men", "from", "a", "case-control", "study", "nested", "in", "a", "prospective", "cohort", "showed", "that,", "although", "a", "germline", "heterozygous", "genotype", "of", "the", "deletion", "was", "detected", "in", "both", "patients", "and", "controls", "at", "similar", "frequencies,", "the", "homozygosity", "of", "the", "deletion", "was", "significantly", "associated", "with", "clinically", "significant", "prostate", "cancer", "(odds", "ratio", "2.9;", "95%", "confidence", "interval", "1.17-7.21).", "These", "findings", "establish", "snoRNA", "U50", "as", "a", "reasonable", "candidate", "for", "the", "6q", "tumor-suppressor", "gene", "in", "prostate", "cancer", "and", "likely", "in", "other", "types", "of", "cancers." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 5541, 1927, 5597, 26, 16886, 1006, 17, 22808, 1028, 1977, 3059, 1922, 3137, 2616, 5717, 2710, 5683, 2539, 16, 1930, 5597, 26, 6311, 2460, 2539, 2094, 6387, 10805, 1930, 7268, 2024, 2905, 16, 28946, 1930, 5967, 16, 4168, 1920, 8627, 1927, 2340, 2014, 2253, 2798, 17, 9241, 2628, 1922, 26, 1055, 18, 1942, 3512, 1920, 26, 1055, 2798, 17, 9241, 2359, 16, 2038, 2561, 8400, 1919, 1920, 3059, 3031, 1927, 5541, 1942, 43, 22, 18, 25, 5667, 4979, 2019, 26, 16886, 1006, 17, 2461, 18, 1927, 1920, 2513, 2628, 4810, 1922, 2052, 6343, 5541, 3031, 1930, 3198, 1922, 2791, 5683, 1036, 16, 2444, 3437, 27532, 63, 3382, 1982, 8336, 16, 3161, 5224, 9894, 1930, 5069, 8271, 3337, 1922, 5683, 2539, 2094, 18, 1920, 3979, 16, 43, 9419, 22, 4149, 12, 7382, 13, 5541, 16, 1982, 2435, 1922, 2288, 1927, 2627, 5683, 2539, 2024, 3557, 19, 14922, 1930, 6360, 1927, 5792, 6579, 5683, 5717, 12, 14483, 1927, 11022, 2014, 29, 9, 5717, 13, 18, 2288, 1927, 5792, 12, 22, 9, 13, 2132, 1956, 5683, 2539, 2222, 2594, 1920, 2841, 3979, 1922, 2310, 12237, 2678, 16, 2308, 6046, 1927, 8824, 2539, 17, 3294, 2285, 3925, 2811, 18, 1920, 9419, 5541, 10979, 63, 3382, 2347, 1922, 43, 8271, 3337, 3381, 18, 2333, 1927, 28687, 5683, 2539, 2919, 1930, 28687, 5992, 2285, 3925, 2037, 43, 3087, 17, 2285, 2161, 13735, 1922, 43, 6315, 4382, 2594, 1988, 16, 2876, 43, 12237, 9589, 5619, 1927, 1920, 5541, 1982, 3330, 1922, 2321, 2132, 1930, 3562, 2019, 2551, 6458, 16, 1920, 29992, 1927, 1920, 5541, 1982, 2567, 2458, 1956, 5908, 2228, 5683, 2539, 12, 6408, 3400, 22, 18, 29, 31, 3002, 9, 5203, 4979, 21, 18, 2752, 17, 27, 18, 2900, 13, 18, 2144, 3056, 5389, 3437, 27532, 63, 3382, 1966, 43, 9368, 6610, 1958, 1920, 26, 1055, 2798, 17, 9241, 2359, 1922, 5683, 2539, 1930, 3205, 1922, 2303, 3584, 1927, 5717, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[]

[]

[ 2, 3 ]

[ 0, 0 ]

[ 1, 1 ]

[ -100, -100 ]

[]

[]

[ 2, 3 ]

[ 0, 0 ]

[ 1, 1 ]

[ -100, -100 ]

[ "Congestive", "heart", "failure", "with", "rhabdomyolysis", "and", "acute", "renal", "failure", "in", "a", "manifesting", "female", "carrier", "of", "Duchenne", "muscular", "dystrophy", "with", "duplication", "of", "dystrophin", "gene." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 20180, 4003, 4574, 1956, 25369, 6892, 1930, 3939, 4604, 4574, 1922, 43, 7943, 1941, 4232, 9685, 1927, 10677, 22467, 2912, 12330, 19321, 1956, 12630, 1927, 23678, 2359, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[ "A", "PCR-reverse", "dot", "blot", "hybridization", "(RDBH)", "assay", "was", "developed", "for", "rapid", "identification", "of", "rifampin", "(RFP)-resistant", "genotypes", "in", "Mycobacterium", "tuberculosis", "clinical", "isolates.", "The", "assay", "used", "the", "rpoB", "gene", "as", "target", "and", "was", "used", "to", "evaluate", "148", "clinical", "isolates", "(97", "RFP-resistant", "isolates", "and", "51", "RFP-susceptible", "isolates).", "At", "the", "same", "time,", "the", "isolates", "were", "subjected", "to", "DNA", "sequencing", "and", "conventional", "drug", "susceptibility", "test.", "One", "hundred", "and", "forty", "one", "(95.3%)", "and", "136", "(91.9%)", "of", "the", "148", "strains", "were", "correctly", "identified", "by", "DNA", "sequencing", "and", "RDBH", "assay,", "respectively.", "None", "of", "the", "51", "RFP-susceptible", "isolates", "examined", "had", "alterations", "in", "rpoB.", "The", "sensitivity", "and", "specificity", "of", "the", "DNA", "sequencing", "were", "92.8%", "and", "100%,", "and", "the", "positive", "predictive", "value", "(PPV)", "and", "negative", "predictive", "value", "(NPV)", "were", "100%", "and", "87.9%,", "respectively.", "The", "sensitivity", "and", "specificity", "of", "the", "RDBH", "assay", "were", "87.6%", "and", "100%,", "and", "the", "PPV", "and", "NPV", "were", "100%", "and", "81.0%,", "respectively.", "Codons", "531", "and", "526", "of", "the", "rpoB", "were", "found", "to", "be", "the", "most", "common", "sites", "of", "nucleotide", "substitutions.", "Mutations", "at", "codons", "511,", "513,", "515,", "516,", "517,", "518,", "and", "533", "were", "also", "found.", "There", "were", "two-codon", "mutations", "in", "four", "isolates.", "No", "deletion", "and", "insertion", "was", "found", "in", "the", "rpoB", "gene.", "These", "results", "indicate", "that", "the", "RDBH", "assay", "is", "a", "rapid,", "simple,", "and", "reliable", "method", "for", "routine", "identification", "of", "RFP", "resistance", "in", "M.", "tuberculosis." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 43, 3343, 17, 5267, 8522, 4918, 8335, 12, 8695, 12937, 13, 3381, 1982, 3530, 1958, 4052, 4824, 1927, 18332, 1921, 12, 16378, 13, 17, 4910, 7059, 1922, 16389, 8449, 2535, 5645, 18, 1920, 3381, 2251, 1920, 4822, 2389, 2359, 1966, 2758, 1930, 1982, 2251, 1942, 4323, 13623, 2535, 5645, 12, 5749, 16378, 17, 4910, 5645, 1930, 4892, 16378, 17, 7819, 5645, 13, 18, 2019, 1920, 2841, 2367, 16, 1920, 5645, 1985, 6243, 1942, 2678, 4754, 1930, 5552, 2838, 6461, 2648, 18, 2340, 8295, 1930, 11270, 2340, 12, 3002, 18, 23, 9, 13, 1930, 12990, 12, 6550, 18, 29, 9, 13, 1927, 1920, 13623, 4046, 1985, 10329, 2899, 2007, 2678, 4754, 1930, 8695, 12937, 3381, 16, 2763, 18, 6046, 1927, 1920, 4892, 16378, 17, 7819, 5645, 3572, 2430, 5996, 1922, 4822, 2389, 18, 1920, 3802, 1930, 4896, 1927, 1920, 2678, 4754, 1985, 6224, 18, 28, 9, 1930, 2813, 9, 16, 1930, 1920, 2843, 6207, 3113, 12, 15918, 13, 1930, 3136, 6207, 3113, 12, 22906, 13, 1985, 2813, 9, 1930, 5783, 18, 29, 9, 16, 2763, 18, 1920, 3802, 1930, 4896, 1927, 1920, 8695, 12937, 3381, 1985, 5783, 18, 26, 9, 1930, 2813, 9, 16, 1930, 1920, 15918, 1930, 22906, 1985, 2813, 9, 1930, 6206, 18, 20, 9, 16, 2763, 18, 14500, 4522, 1009, 1930, 4764, 1016, 1927, 1920, 4822, 2389, 1985, 2435, 1942, 1998, 1920, 2501, 3059, 3402, 1927, 5489, 10682, 18, 3527, 2019, 14500, 27725, 16, 4892, 1010, 16, 25585, 16, 4892, 1016, 16, 30147, 16, 4892, 1025, 16, 1930, 4522, 1010, 1985, 2222, 2435, 18, 2276, 1985, 2288, 17, 8905, 3527, 1922, 3006, 5645, 18, 2239, 5541, 1930, 7413, 1982, 2435, 1922, 1920, 4822, 2389, 2359, 18, 2144, 2274, 3579, 1988, 1920, 8695, 12937, 3381, 1977, 43, 4052, 16, 5288, 16, 1930, 7214, 2417, 1958, 7341, 4824, 1927, 16378, 3554, 1922, 55, 18, 8449, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[ "Genetic", "association", "studies", "have", "related", "the", "tumour", "necrosis", "factor-alpha", "gene", "(TNFA)", "guanine", "to", "adenine", "substitution", "of", "nucleotide", "-308", "(", "-308G>A", ")", "polymorphism", "to", "increased", "risk", "of", "asthma,", "but", "results", "are", "inconsistent.", "The", "aim", "of", "the", "present", "study", "was", "to", "test", "whether", "two", "single-nucleotide", "polymorphisms,", "of", "TNFA", "and", "of", "the", "lymphotoxin-alpha", "gene", "(LTA),", "are", "associated", "with", "asthma,", "bronchial", "hyperresponsiveness", "and", "atopy", "in", "adults,", "by", "combining", "the", "results", "of", "two", "large", "population-based", "multicentric", "studies", "and", "conducting", "a", "meta-analysis", "of", "previously", "published", "studies.", "The", "European", "Community", "Respiratory", "Health", "Survey", "(ECRHS)", "and", "Swiss", "Cohort", "Study", "on", "Air", "Pollution", "and", "Lung", "and", "Heart", "Diseases", "in", "Adults", "(SAPALDIA)", "used", "comparable", "protocols,", "including", "questionnaires", "for", "respiratory", "symptoms", "and", "measures", "of", "lung", "function", "and", "atopy.", "DNA", "samples", "from", "11,136", "participants", "were", "genotyped", "at", "TNFA", "-308", "and", "LTA", "252.", "Logistic", "regression", "employing", "fixed", "and", "random", "effects", "models", "and", "nonparametric", "techniques", "were", "used.", "The", "prevalence", "of", "asthma", "was", "6%.", "The", "TNFA", "-308G>A", " ", "polymorphism", "was", "associated", "with", "increased", "asthma", "prevalence", "and", "with", "bronchial", "hyperresponsiveness.", "No", "consistent", "association", "was", "found", "for", "atopy.", "The", "LTA", "252A>G", " ", "polymorphism", "was", "not", "associated", "with", "any", "of", "the", "outcomes.", "A", "meta-analysis", "of", "17", "studies", "showed", "an", "increased", "asthma", "risk", "for", "the", "TNFA", "-308", "adenine", "allele.", "The", "tumour", "necrosis", "factor-alpha", "gene", "nucleotide", "-308", "polymorphism", "is", "associated", "with", "a", "moderately", "increased", "risk", "of", "asthma", "and", "bronchial", "hyperresponsiveness,", "but", "not", "with", "atopy.", "These", "results", "are", "supported", "by", "a", "meta-analysis", "of", "previously", "published", "studies." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 3299, 3279, 2351, 2162, 2712, 1920, 6383, 7476, 2991, 17, 4595, 2359, 12, 4705, 1019, 13, 16904, 1942, 15643, 6636, 1927, 5489, 17, 20962, 12, 17, 20962, 1029, 34, 43, 13, 8218, 1942, 2502, 2565, 1927, 6678, 16, 2308, 2274, 2032, 12061, 18, 1920, 3774, 1927, 1920, 2481, 2161, 1982, 1942, 2648, 3053, 2288, 2957, 17, 5489, 8321, 16, 1927, 4705, 1019, 1930, 1927, 1920, 3541, 11140, 17, 4595, 2359, 12, 3457, 1019, 13, 16, 2032, 2458, 1956, 6678, 16, 14700, 4194, 17552, 7838, 1930, 2019, 14864, 1922, 4440, 16, 2007, 9138, 1920, 2274, 1927, 2288, 3103, 2973, 17, 2454, 8844, 14635, 2351, 1930, 12335, 43, 5880, 17, 2333, 1927, 3024, 4586, 2351, 18, 1920, 6785, 4413, 5481, 2436, 4711, 12, 25848, 8092, 13, 1930, 15412, 4382, 2161, 1990, 4433, 12264, 1930, 3614, 1930, 4003, 3902, 1922, 4440, 12, 9235, 12666, 2126, 13, 2251, 5596, 6997, 16, 2710, 9343, 1958, 5481, 3601, 1930, 3975, 1927, 3614, 2347, 1930, 2019, 14864, 18, 2678, 2785, 2037, 2513, 16, 12990, 3003, 1985, 14401, 2019, 4705, 1019, 17, 20962, 1930, 3457, 1019, 21979, 18, 6933, 4165, 12003, 4779, 1930, 3332, 2564, 3130, 1930, 18991, 4941, 1985, 2251, 18, 1920, 4077, 1927, 6678, 1982, 26, 9, 18, 1920, 4705, 1019, 17, 20962, 1029, 34, 43, 8218, 1982, 2458, 1956, 2502, 6678, 4077, 1930, 1956, 14700, 4194, 17552, 7838, 18, 2239, 3499, 3279, 1982, 2435, 1958, 2019, 14864, 18, 1920, 3457, 1019, 21979, 1019, 34, 49, 8218, 1982, 2084, 2458, 1956, 2967, 1927, 1920, 3685, 18, 43, 5880, 17, 2333, 1927, 2752, 2351, 2594, 1925, 2502, 6678, 2565, 1958, 1920, 4705, 1019, 17, 20962, 15643, 5465, 18, 1920, 6383, 7476, 2991, 17, 4595, 2359, 5489, 17, 20962, 8218, 1977, 2458, 1956, 43, 11224, 2502, 2565, 1927, 6678, 1930, 14700, 4194, 17552, 7838, 16, 2308, 2084, 1956, 2019, 14864, 18, 2144, 2274, 2032, 4427, 2007, 43, 5880, 17, 2333, 1927, 3024, 4586, 2351, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[]

[]

[ 2, 3 ]

[ 0, 0 ]

[ 1, 1 ]

[ -100, -100 ]

[ "BACKGROUND:", "Atrioventricular", "septal", "defects", "(AVSDs)", "occur", "as", "clinical", "defects", "of", "several", "different", "syndromes,", "as", "autosomal", "dominant", "defects,", "and", "as", "sporadically", "occurring", "malformations.", "Consequently,", "there", "is", "genetic", "heterogeneity,", "but", "until", "recently,", "little", "is", "known", "about", "the", "genes", "involving", "in", "the", "pathogenesis", "of", "AVSD.", "CRELD1", "gene,", "a", "novel", "cell", "adhesion", "molecule,", "is", "a", "candidate", "gene", "for", "AVSD.", "METHODS:", "This", "study", "included", "133", "patients", "with", "AVSD", "and", "200", "healthy", "controls.", "Peripheral", "blood", "samples", "were", "collected", "and", "genomic", "DNA", "was", "extracted", "from", "the", "leukocytes.", "CRELD1", "was", "amplified", "by", "polymerase", "chain", "reaction", "(PCR)", "with", "specific", "primers.", "The", "sequences", "of", "PCR", "products", "were", "compared", "between", "the", "patients", "and", "controls.", "RESULTS:", "In", "a", "patient,", "a", "C-to-G", "transition", "was", "identified", "at", "nucleotide", "857", "in", "exon", "8", "that", "resulted", "in", "a", "substitution", "of", "alanine", "for", "proline", "at", "amino", "acid", "286", "in", "the", "first", "calcium-binding", "EGF", "domain.", "This", "patient", "had", "an", "isolated", "partial", "AVSD", "and", "the", "mutation", "was", "inherited", "from", "her", "mother.", "Another", "mutation", "was", "detected", "in", "a", "patient", "with", "a", "partial", "AVSD", "and", "evidence", "of", "Down", "syndrome.", "The", "heterozygous", "c.973G>A", " ", "transition", "in", "exon", "9", "resulted", "in", "a", "substitution", "of", "lysine", "for", "glutamic", "acid", "at", "amino", "acid", "325", "(", "E325K", ")", "in", "the", "second", "calcium-binding", "EGF", "domain.", "CONCLUSIONS:", "Two", "novel", "CRELD1", "mutations", "were", "identified", "in", "the", "calcium-binding", "EGF", "domain", "in", "patients", "with", "AVSD.", "CRELD1", "is", "likely", "to", "be", "an", "AVSD-susceptibility", "gene", "and", "CRELD1", "mutations", "may", "increase", "the", "risk", "of", "developing", "a", "heart", "defect", "rather", "than", "being", "a", "direct", "causative", "mutation." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 3872, 30, 28355, 16458, 6007, 12, 2781, 13077, 1036, 13, 4704, 1966, 2535, 6007, 1927, 2980, 2413, 12688, 16, 1966, 13027, 6379, 6007, 16, 1930, 1966, 13088, 2169, 6966, 17360, 18, 7099, 16, 2276, 1977, 3299, 6808, 16, 2308, 4801, 3998, 16, 5082, 1977, 3171, 3001, 1920, 2628, 5884, 1922, 1920, 6559, 1927, 2781, 13077, 18, 3478, 4184, 1009, 2359, 16, 43, 4008, 2024, 6141, 5388, 16, 1977, 43, 6610, 2359, 1958, 2781, 13077, 18, 2860, 30, 2052, 2161, 3063, 12147, 2132, 1956, 2781, 13077, 1930, 2191, 4097, 3562, 18, 5009, 2877, 2785, 1985, 3651, 1930, 4935, 2678, 1982, 5210, 2037, 1920, 12257, 18, 3478, 4184, 1009, 1982, 7006, 2007, 6479, 4659, 3227, 12, 3343, 13, 1956, 2487, 5696, 18, 1920, 3709, 1927, 3343, 4461, 1985, 2452, 2192, 1920, 2132, 1930, 3562, 18, 2274, 30, 1922, 43, 2774, 16, 43, 45, 17, 1942, 17, 49, 4832, 1982, 2899, 2019, 5489, 5140, 1027, 1922, 7049, 28, 1988, 4306, 1922, 43, 6636, 1927, 10504, 1958, 12958, 2019, 3835, 2687, 22662, 1922, 1920, 2561, 5016, 17, 2743, 4451, 3418, 18, 2052, 2774, 2430, 1925, 3937, 5740, 2781, 13077, 1930, 1920, 3979, 1982, 12911, 2037, 3656, 7999, 18, 3741, 3979, 1982, 3330, 1922, 43, 2774, 1956, 43, 5740, 2781, 13077, 1930, 3095, 1927, 3292, 4741, 18, 1920, 9589, 45, 18, 5749, 24176, 34, 43, 4832, 1922, 7049, 29, 4306, 1922, 43, 6636, 1927, 9082, 1958, 18626, 2687, 2019, 3835, 2687, 21059, 12, 10968, 4198, 1040, 13, 1922, 1920, 2812, 5016, 17, 2743, 4451, 3418, 18, 4355, 30, 2288, 4008, 3478, 4184, 1009, 3527, 1985, 2899, 1922, 1920, 5016, 17, 2743, 4451, 3418, 1922, 2132, 1956, 2781, 13077, 18, 3478, 4184, 1009, 1977, 3205, 1942, 1998, 1925, 2781, 13077, 17, 6461, 2359, 1930, 3478, 4184, 1009, 3527, 2278, 2760, 1920, 2565, 1927, 5130, 43, 4003, 7374, 4356, 2254, 3301, 43, 3083, 13939, 3979, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[]

[]

[ 2, 3 ]

[ 0, 0 ]

[ 1, 1 ]

[ -100, -100 ]

[ "Relation", "of", "shyness", "in", "grade", "school", "children", "to", "the", "genotype", "for", "the", "long", "form", "of", "the", "serotonin", "transporter", "promoter", "region", "polymorphism." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 6147, 1927, 2044, 25201, 1922, 4927, 5097, 3069, 1942, 1920, 5619, 1958, 1920, 2815, 2386, 1927, 1920, 11153, 9054, 4465, 3031, 8218, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[]

[]

[ 2, 3 ]

[ 0, 0 ]

[ 1, 1 ]

[ -100, -100 ]

[]

[]

[ 2, 3 ]

[ 0, 0 ]

[ 1, 1 ]

[ -100, -100 ]

[]

[]

[ 2, 3 ]

[ 0, 0 ]

[ 1, 1 ]

[ -100, -100 ]

[ "Catechol-O-methyltransferase", "(COMT)", "catalyzes", "the", "breakdown", "of", "catechol", "neurotransmitters,", "including", "dopamine,", "which", "plays", "a", "prominent", "role", "in", "drug", "reward.", "A", "common", "single", "nucleotide", "polymorphism", "(SNP),", "G472A", ",", "codes", "for", "a", "Val158Met", " ", "substitution", "and", "results", "in", "a", "fourfold", "down", "regulation", "of", "enzyme", "activity.", "We", "sequenced", "exon", "IV", "of", "COMT", "gene", "in", "search", "for", "novel", "polymorphisms", "and", "then", "genotyped", "four", "out", "of", "five", "identified", "by", "direct", "sequencing,", "using", "TaqMan", "assay", "on", "266", "opioid-dependent", "and", "173", "control", "subjects.", "Genotype", "frequencies", "of", "the", "G472A", " ", "SNP", "varied", "significantly", "(P", "=", "0.029)", "among", "the", "three", "main", "ethnic/cultural", "groups", "(Caucasians,", "Hispanics,", "and", "African", "Americans).", "Using", "a", "genotype", "test,", "we", "found", "a", "trend", "to", "point-wise", "association", "(P", "=", "0.053)", "of", "the", "G472A", " ", "SNP", "in", "Hispanic", "subjects", "with", "opiate", "addiction.", "Further", "analysis", "of", "G472A", " ", "genotypes", "in", "Hispanic", "subjects", "with", "data", "stratified", "by", "gender", "identified", "a", "point-wise", "significant", "(P", "=", "0.049)", "association", "of", "G/A", "and", "A/A", "genotypes", "with", "opiate", "addiction", "in", "women,", "but", "not", "men.", "These", "point-wise", "significant", "results", "are", "not", "significant", "experiment-wise", "(at", "P", "<", "0.05)", "after", "correction", "for", "multiple", "testing.", "No", "significant", "association", "was", "found", "with", "haplotypes", "of", "the", "three", "most", "common", "SNPs.", "Linkage", "disequilibrium", "patterns", "were", "similar", "for", "the", "three", "ethnic/cultural", "groups." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 14400, 17, 57, 17, 16478, 12, 24610, 13, 17097, 1920, 13630, 1927, 14400, 21012, 16, 2710, 7964, 16, 2154, 5705, 43, 8753, 2770, 1922, 2838, 8119, 18, 43, 3059, 2957, 5489, 8218, 12, 6821, 13, 16, 14036, 10180, 1019, 16, 9756, 1958, 43, 2326, 22633, 14578, 6636, 1930, 2274, 1922, 43, 28706, 3292, 3640, 1927, 4113, 2455, 18, 2038, 8549, 7049, 4370, 1927, 24610, 2359, 1922, 4603, 1958, 4008, 8321, 1930, 2759, 14401, 3006, 2397, 1927, 3628, 2899, 2007, 3083, 4754, 16, 2193, 15161, 3381, 1990, 22253, 9384, 17, 3100, 1930, 15853, 2285, 3297, 18, 5619, 6458, 1927, 1920, 14036, 10180, 1019, 6821, 6760, 2567, 12, 58, 33, 20, 18, 21310, 13, 2706, 1920, 2559, 2730, 8639, 19, 9268, 2671, 12, 21338, 16, 20736, 16, 1930, 7050, 11517, 13, 18, 2193, 43, 5619, 2648, 16, 2038, 2435, 43, 5045, 1942, 3575, 17, 12853, 3279, 12, 58, 33, 20, 18, 2914, 1010, 13, 1927, 1920, 14036, 10180, 1019, 6821, 1922, 10542, 3297, 1956, 27059, 12067, 18, 2520, 2333, 1927, 14036, 10180, 1019, 7059, 1922, 10542, 3297, 1956, 2230, 9536, 2007, 5125, 2899, 43, 3575, 17, 12853, 2228, 12, 58, 33, 20, 18, 25428, 13, 3279, 1927, 49, 19, 43, 1930, 43, 19, 43, 7059, 1956, 27059, 12067, 1922, 3089, 16, 2308, 2084, 3925, 18, 2144, 3575, 17, 12853, 2228, 2274, 2032, 2084, 2228, 3859, 17, 12853, 12, 2019, 58, 32, 20, 18, 2914, 13, 2256, 6820, 1958, 3137, 4213, 18, 2239, 2228, 3279, 1982, 2435, 1956, 12149, 1927, 1920, 2559, 2501, 3059, 6084, 18, 8611, 19264, 4147, 1985, 2551, 1958, 1920, 2559, 8639, 19, 9268, 2671, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[]

[]

[ 2, 3 ]

[ 0, 0 ]

[ 1, 1 ]

[ -100, -100 ]

[]

[]

[ 2, 3 ]

[ 0, 0 ]

[ 1, 1 ]

[ -100, -100 ]

[]

[]

[ 2, 3 ]

[ 0, 0 ]

[ 1, 1 ]

[ -100, -100 ]

[ "Detection", "of", "EGFR", "mutations", "in", "plasma", "DNA", "from", "lung", "cancer", "patients", "by", "mass", "spectrometry", "genotyping", "is", "predictive", "of", "tumor", "EGFR", "status", "and", "response", "to", "EGFR", "inhibitors." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 3805, 1927, 5775, 3527, 1922, 3582, 2678, 2037, 3614, 2539, 2132, 2007, 3411, 8438, 10667, 1977, 6207, 1927, 2798, 5775, 3642, 1930, 2644, 1942, 5775, 4472, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[]

[]

[ 2, 3 ]

[ 0, 0 ]

[ 1, 1 ]

[ -100, -100 ]

[ "Homozygous", "deletions", "within", "the", "11q13", "cervical", "cancer", "tumor-suppressor", "locus", "in", "radiation-induced,", "neoplastically", "transformed", "human", "hybrid", "cells." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 9419, 10550, 2651, 1920, 2513, 16886, 1010, 6775, 2539, 2798, 17, 9241, 6730, 1922, 5442, 17, 2719, 16, 12847, 2169, 7247, 2616, 5249, 2094, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[]

[]

[ 2, 3 ]

[ 0, 0 ]

[ 1, 1 ]

[ -100, -100 ]

[ "Progressive", "decline", "of", "vasopressin", "secretion", "in", "familial", "autosomal", "dominant", "neurohypophyseal", "diabetes", "insipidus", "presenting", "a", "novel", "mutation", "in", "the", "vasopressin-neurophysin", "II", "gene." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 7529, 6859, 1927, 20671, 5512, 1922, 11444, 13027, 6379, 3366, 30338, 7056, 25818, 4127, 1923, 4032, 2346, 2049, 22291, 8326, 43, 4008, 3979, 1922, 1920, 20671, 17, 16916, 1921, 2890, 2359, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[]

[]

[ 2, 3 ]

[ 0, 0 ]

[ 1, 1 ]

[ -100, -100 ]

[ "Tag/anti-tag", "liquid-phase", "primer", "extension", "array:", "a", "flexible", "and", "versatile", "genotyping", "platform." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 5218, 19, 2246, 17, 5218, 5875, 17, 3193, 6194, 7140, 6472, 30, 43, 9964, 1930, 20425, 10667, 6631, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[ "Impact", "of", "pepsinogen", "C", "polymorphism", "on", "individual", "susceptibility", "to", "gastric", "cancer", "and", "its", "precancerous", "conditions", "in", "a", "Northeast", "Chinese", "population." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 3829, 1927, 27979, 2404, 45, 8218, 1990, 2725, 6461, 1942, 6319, 2539, 1930, 2496, 24436, 15895, 6506, 1957, 2961, 1922, 43, 24341, 7185, 2973, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[ "CD72", "polymorphisms", "associated", "with", "alternative", "splicing", "modify", "susceptibility", "to", "human", "systemic", "lupus", "erythematosus", "through", "epistatic", "interaction", "with", "FCGR2B." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 2464, 10180, 8321, 2458, 1956, 5012, 8490, 11675, 6461, 1942, 2616, 5510, 13711, 22045, 2596, 30293, 2835, 1956, 6437, 2299, 9385, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[]

[]

[ 2, 3 ]

[ 0, 0 ]

[ 1, 1 ]

[ -100, -100 ]

[]

[]

[ 2, 3 ]

[ 0, 0 ]

[ 1, 1 ]

[ -100, -100 ]

[]

[]

[ 2, 3 ]

[ 0, 0 ]

[ 1, 1 ]

[ -100, -100 ]

[]

[]

[ 2, 3 ]

[ 0, 0 ]

[ 1, 1 ]

[ -100, -100 ]

[ "Polymorphisms", "in", "the", "FOXP3", "gene", "in", "Han", "Chinese", "psoriasis", "patients." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 8321, 1922, 1920, 11206, 2359, 1922, 13087, 7185, 14109, 2132, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[]

[]

[ 2, 3 ]

[ 0, 0 ]

[ 1, 1 ]

[ -100, -100 ]

[]

[]

[ 2, 3 ]

[ 0, 0 ]

[ 1, 1 ]

[ -100, -100 ]

[ "Polymorphic", "variation", "in", "DNA", "repair", "genes", "was", "examined", "in", "a", "group", "of", "retired", "workers", "from", "the", "British", "Nuclear", "Fuels", "plc", "facility", "at", "Sellafield", "in", "relation", "to", "previously", "determined", "translocation", "frequencies", "in", "peripheral", "blood", "lymphocytes.", "Variation", "at", "seven", "polymorphisms", "in", "four", "genes", "involved", "in", "the", "base", "excision", "repair", "(XRCC1", "R194W", ",", "R399Q", " ", "and", "a", "[AC]n", "microsatellite", "in", "the", "3'", "UTR)", "and", "double", "strand", "break", "repair", "(XRCC3", "T241M", " ", "and", "a", "[AC]n", "microsatellite", "in", "intron", "3", "of", "XRCC3,", "XRCC4", "I134T", ",", "and", "a", "GACTAn", "microsatellite", "located", "120", "kb", "5'", "of", "XRCC5)", "pathways", "was", "determined", "for", "291", "retired", "radiation", "workers", "who", "had", "received", "cumulative", "occupational", "external", "radiation", "doses", "of", "between", "0", "and", "1873", "mSv.", "When", "the", "interaction", "between", "radiation", "dose", "and", "each", "DNA", "repair", "gene", "polymorphism", "was", "examined", "in", "relation", "to", "translocation", "frequency", "there", "was", "no", "evidence", "for", "any", "of", "the", "polymorphisms", "studied", "influencing", "the", "response", "to", "occupational", "exposure.", "A", "positive", "interaction", "observed", "between", "genotype", "(individuals", "with", "at", "least", "one", "allele", ">", "or", "=20", "repeat", "units)", "at", "a", "microsatellite", "locus", "in", "the", "XRCC3", "gene", "and", "smoking", "status", "should", "be", "interpreted", "cautiously", "because", "interactions", "were", "investigated", "for", "seven", "polymorphisms", "and", "two", "exposures.", "Nonetheless,", "further", "research", "is", "warranted", "to", "examine", "whether", "this", "DNA", "repair", "gene", "variant", "might", "be", "associated", "with", "a", "sub-optimal", "repair", "response", "to", "smoking-induced", "DNA", "damage", "and", "hence", "an", "increased", "frequency", "of", "translocations." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 14240, 4516, 1922, 2678, 5059, 2628, 1982, 3572, 1922, 43, 2210, 1927, 23441, 1007, 7066, 2037, 1920, 14885, 4254, 29357, 12897, 8598, 2019, 24908, 2624, 2969, 1922, 6147, 1942, 3024, 3180, 7849, 6458, 1922, 5009, 2877, 7257, 18, 4516, 2019, 5260, 8321, 1922, 3006, 2628, 3286, 1922, 1920, 5170, 10940, 5059, 12, 15507, 17661, 12041, 11226, 1018, 16, 19217, 6576, 1055, 1930, 43, 37, 2000, 39, 56, 16069, 1922, 1920, 23, 11, 8812, 13, 1930, 4825, 5984, 6017, 5059, 12, 15507, 2437, 1010, 5787, 8099, 1035, 1930, 43, 37, 2000, 39, 56, 16069, 1922, 10444, 23, 1927, 15507, 2437, 1010, 16, 15507, 2437, 1006, 27926, 4857, 1031, 16, 1930, 43, 23642, 3285, 16069, 4810, 6103, 6633, 25, 11, 1927, 15507, 2437, 1015, 13, 3873, 1982, 3180, 1958, 24608, 23441, 1007, 5442, 7066, 2746, 2430, 4004, 8274, 10485, 5771, 5442, 5312, 1927, 2192, 20, 1930, 16819, 1010, 3012, 1020, 18, 2469, 1920, 2835, 2192, 5442, 3253, 1930, 2362, 2678, 5059, 2359, 8218, 1982, 3572, 1922, 6147, 1942, 7849, 3528, 2276, 1982, 2239, 3095, 1958, 2967, 1927, 1920, 8321, 3942, 11623, 1920, 2644, 1942, 10485, 3395, 18, 43, 2843, 2835, 2528, 2192, 5619, 12, 3445, 1956, 2019, 3464, 2340, 5465, 34, 2014, 33, 2036, 6865, 5701, 13, 2019, 43, 16069, 6730, 1922, 1920, 15507, 2437, 1010, 2359, 1930, 5075, 3642, 3066, 1998, 8967, 23402, 1954, 2882, 3719, 1985, 3845, 1958, 5260, 8321, 1930, 2288, 10043, 18, 10850, 16, 2520, 2659, 1977, 12331, 1942, 5020, 3053, 2052, 2678, 5059, 2359, 6031, 3284, 1998, 2458, 1956, 43, 2316, 17, 5419, 5059, 2644, 1942, 5075, 17, 2719, 2678, 4293, 1930, 5566, 1925, 2502, 3528, 1927, 22436, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[ "OBJECTIVE:", "C-C", "chemokine", "receptor", "5", "(CCR5)", "plays", "an", "important", "role", "in", "inflammation.", "A", "32", "base-pair", "(/\\32)", "deletion", "in", "the", "CCR5", "gene", "leads", "to", "a", "nonfunctional", "receptor.", "This", "deletion", "has", "been", "reported", "to", "have", "a", "protective", "effect", "on", "the", "development", "and", "progression", "of", "several", "autoimmune", "diseases.", "We", "investigated", "whether", "the", "/\\32", "deletion", "is", "associated", "with", "disease", "susceptibility", "in", "a", "population", "of", "patients", "with", "rheumatoid", "arthritis", "(RA),", "systemic", "lupus", "erythematosus", "(SLE),", "and", "lupus", "nephritis", "(LN);", "and", "whether", "it", "is", "associated", "with", "disease", "severity.", "METHODS:", "DNA", "samples", "from", "405", "RA", "patients,", "97", "SLE", "patients,", "113", "LN", "patients,", "and", "431", "healthy", "controls", "were", "genotyped", "for", "the", "CCR5", "/\\32", "deletion.", "Differences", "in", "genotype", "frequencies", "were", "tested", "between", "patients", "and", "controls.", "Association", "of", "genotypes", "with", "disease", "severity", "was", "analyzed.", "RESULTS:", "Genotype", "frequencies", "of", "each", "group", "were", "in", "Hardy-Weinberg", "equilibrium.", "The", "genotype", "frequencies", "of", "patients", "did", "not", "differ", "significantly", "from", "controls", "(CCR5//\\32,", "/\\32//\\32:", "RA", "18.3%", "and", "1.2%,", "respectively;", "SLE", "17.5%", "and", "2.1%;", "LN", "13.3%", "and", "1.8%;", "controls", "20.0%", "and", "2.8%).", "However,", "there", "was", "a", "trend", "for", "lower", "/\\32", "deletion", "allele", "frequency", "in", "LN", "patients", "compared", "to", "controls", "(p", "=", "0.08).", "There", "was", "no", "significant", "association", "between", "the", "CCR5", "status", "and", "disease", "severity", "in", "RA,", "SLE,", "or", "LN.", "CONCLUSION:", "Although", "an", "association", "with", "LN", "cannot", "be", "excluded,", "the", "CCR5", "/\\32", "deletion", "does", "not", "seem", "to", "be", "a", "disease", "susceptibility", "genotype", "for", "RA,", "SLE,", "or", "LN.", "No", "significant", "effect", "of", "the", "/\\32", "deletion", "on", "disease", "severity", "was", "demonstrated." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 4470, 30, 45, 17, 45, 11673, 3148, 25, 12, 16238, 13, 5705, 1925, 2715, 2770, 1922, 4531, 18, 43, 3323, 5170, 17, 3715, 12, 19, 38, 3323, 13, 5541, 1922, 1920, 16238, 2359, 5029, 1942, 43, 19136, 20839, 3148, 18, 2052, 5541, 2258, 2252, 2568, 1942, 2162, 43, 6337, 2495, 1990, 1920, 2740, 1930, 4380, 1927, 2980, 8904, 3902, 18, 2038, 3845, 3053, 1920, 19, 38, 3323, 5541, 1977, 2458, 1956, 2573, 6461, 1922, 43, 2973, 1927, 2132, 1956, 13053, 8884, 12, 4313, 13, 16, 5510, 13711, 22045, 12, 4565, 13, 16, 1930, 13711, 25064, 12, 6252, 13, 31, 1930, 3053, 2176, 1977, 2458, 1956, 2573, 5155, 18, 2860, 30, 2678, 2785, 2037, 18672, 4313, 2132, 16, 5749, 4565, 2132, 16, 11549, 6252, 2132, 16, 1930, 29672, 4097, 3562, 1985, 14401, 1958, 1920, 16238, 19, 38, 3323, 5541, 18, 2886, 1922, 5619, 6458, 1985, 3620, 2192, 2132, 1930, 3562, 18, 3279, 1927, 7059, 1956, 2573, 5155, 1982, 3265, 18, 2274, 30, 5619, 6458, 1927, 2362, 2210, 1985, 1922, 22054, 17, 22392, 8660, 18, 1920, 5619, 6458, 1927, 2132, 2811, 2084, 2129, 2567, 2037, 3562, 12, 16238, 19, 19, 38, 3323, 16, 19, 38, 3323, 19, 19, 38, 3323, 30, 4313, 2654, 18, 23, 9, 1930, 21, 18, 22, 9, 16, 2763, 31, 4565, 2752, 18, 25, 9, 1930, 22, 18, 21, 9, 31, 6252, 2590, 18, 23, 9, 1930, 21, 18, 28, 9, 31, 3562, 2036, 18, 20, 9, 1930, 22, 18, 28, 9, 13, 18, 2406, 16, 2276, 1982, 43, 5045, 1958, 2826, 19, 38, 3323, 5541, 5465, 3528, 1922, 6252, 2132, 2452, 1942, 3562, 12, 58, 33, 20, 18, 6709, 13, 18, 2276, 1982, 2239, 2228, 3279, 2192, 1920, 16238, 3642, 1930, 2573, 5155, 1922, 4313, 16, 4565, 16, 2014, 6252, 18, 4180, 30, 2876, 1925, 3279, 1956, 6252, 5156, 1998, 5450, 16, 1920, 16238, 19, 38, 3323, 5541, 3731, 2084, 6521, 1942, 1998, 43, 2573, 6461, 5619, 1958, 4313, 16, 4565, 16, 2014, 6252, 18, 2239, 2228, 2495, 1927, 1920, 19, 38, 3323, 5541, 1990, 2573, 5155, 1982, 3161, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[ "Activating", "mutation", "in", "the", "tyrosine", "kinase", "JAK2", "in", "polycythemia", "vera,", "essential", "thrombocythemia,", "and", "myeloid", "metaplasia", "with", "myelofibrosis." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 8019, 3979, 1922, 1920, 6941, 4016, 15474, 1922, 12043, 4626, 3847, 3566, 1019, 16, 4415, 15864, 20730, 2126, 16, 1930, 9677, 25999, 1956, 5707, 18120, 2475, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[ "DFF45/ICAD", "restores", "cisplatin-induced", "nuclear", "fragmentation", "but", "not", "DNA", "cleavage", "in", "DFF45-deficient", "neuroblastoma", "cells." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 8122, 10432, 1015, 19, 14784, 1007, 24423, 9284, 17, 2719, 4254, 11090, 2308, 2084, 2678, 6404, 1922, 8122, 10432, 1015, 17, 5778, 15566, 2094, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[ "There", "is", "currently", "no", "known", "genetic", "disease", "linked", "to", "prolactin", "(Prl)", "or", "its", "receptor", "(PrlR)", "in", "humans.", "Given", "the", "essential", "role", "of", "this", "hormonal", "system", "in", "breast", "physiology,", "we", "reasoned", "that", "genetic", "anomalies", "of", "Prl/PrlR", "genes", "may", "be", "related", "to", "the", "occurrence", "of", "breast", "diseases", "with", "high", "proliferative", "potential.", "Multiple", "fibroadenomas", "(MFA)", "are", "benign", "breast", "tumors", "which", "appear", "most", "frequently", "in", "young", "women,", "including", "at", "puberty,", "when", "Prl", "has", "well-recognized", "proliferative", "actions", "on", "the", "breast.", "In", "a", "prospective", "study", "involving", "74", "MFA", "patients", "and", "170", "control", "subjects,", "we", "identified", "four", "patients", "harboring", "a", "heterozygous", "single", "nucleotide", "polymorphism", "in", "exon", "6", "of", "the", "PrlR", "gene,", "encoding", "Ile(146)-->Leu", " ", "substitution", "in", "its", "extracellular", "domain.", "This", "sole", "substitution", "was", "sufficient", "to", "confer", "constitutive", "activity", "to", "the", "receptor", "variant", "(PrlR(", "I146L", ")),", "as", "assessed", "in", "three", "reconstituted", "cell", "models", "(Ba/F3,", "HEK293", "and", "MCF-7", "cells)", "by", "Prl-independent", "(i)", "PrlR", "tyrosine", "phosphorylation,", "(ii)", "activation", "of", "signal", "transducer", "and", "activator", "of", "transcription", "5", "(STAT5)", "signaling,", "(iii)", "transcriptional", "activity", "toward", "a", "Prl-responsive", "reporter", "gene,", "and", "(iv)", "cell", "proliferation", "and", "protection", "from", "cell", "death.", "Constitutive", "activity", "of", "PrlR(", "I146L", ")", "in", "the", "breast", "sample", "from", "a", "patient", "was", "supported", "by", "increased", "STAT5", "signaling.", "This", "is", "a", "unique", "description", "of", "a", "functional", "mutation", "of", "the", "PrlR", "associated", "with", "a", "human", "disease.", "Hallmarks", "of", "constitutive", "activity", "were", "all", "reversed", "by", "a", "specific", "PrlR", "antagonist,", "which", "opens", "potential", "therapeutic", "approaches", "for", "MFA,", "or", "any", "other", "disease", "that", "could", "be", "associated", "with", "this", "mutation", "in", "future." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 2276, 1977, 5077, 2239, 3171, 3299, 2573, 4624, 1942, 18386, 12, 15593, 13, 2014, 2496, 3148, 12, 15593, 1005, 13, 1922, 5209, 18, 3258, 1920, 4415, 2770, 1927, 2052, 12438, 2433, 1922, 3739, 10498, 16, 2038, 20943, 1988, 3299, 13621, 1927, 15593, 19, 15593, 1005, 2628, 2278, 1998, 2712, 1942, 1920, 6564, 1927, 3739, 3902, 1956, 2149, 9842, 2889, 18, 3137, 5094, 10185, 4956, 12, 8168, 1019, 13, 2032, 8867, 3739, 3861, 2154, 3267, 2501, 5467, 1922, 4201, 3089, 16, 2710, 2019, 18335, 16, 2469, 15593, 2258, 2486, 17, 6783, 9842, 7728, 1990, 1920, 3739, 18, 1922, 43, 6315, 2161, 5884, 5446, 8168, 1019, 2132, 1930, 11222, 2285, 3297, 16, 2038, 2899, 3006, 2132, 12827, 43, 9589, 2957, 5489, 8218, 1922, 7049, 26, 1927, 1920, 15593, 1005, 2359, 16, 5797, 9940, 12, 13402, 13, 17, 17, 34, 10632, 6636, 1922, 2496, 5329, 3418, 18, 2052, 12168, 6636, 1982, 5409, 1942, 7909, 10943, 2455, 1942, 1920, 3148, 6031, 12, 15593, 1005, 12, 27926, 7772, 1024, 13, 13, 16, 1966, 3683, 1922, 2559, 14709, 2024, 3130, 12, 6813, 19, 14499, 16, 10562, 1930, 8330, 17, 27, 2094, 13, 2007, 15593, 17, 3484, 12, 51, 13, 15593, 1005, 6941, 4050, 16, 12, 2890, 13, 2936, 1927, 2733, 14848, 1930, 9518, 1927, 3213, 25, 12, 20001, 13, 3197, 16, 12, 4337, 13, 5224, 2455, 4205, 43, 15593, 17, 8487, 6734, 2359, 16, 1930, 12, 4370, 13, 2024, 4031, 1930, 6202, 2037, 2024, 3539, 18, 10943, 2455, 1927, 15593, 1005, 12, 27926, 7772, 1024, 13, 1922, 1920, 3739, 2983, 2037, 43, 2774, 1982, 4427, 2007, 2502, 20001, 3197, 18, 2052, 1977, 43, 5008, 8418, 1927, 43, 3183, 3979, 1927, 1920, 15593, 1005, 2458, 1956, 43, 2616, 2573, 18, 21765, 1927, 10943, 2455, 1985, 2136, 9432, 2007, 43, 2487, 15593, 1005, 8151, 16, 2154, 19851, 2889, 4272, 4895, 1958, 8168, 1019, 16, 2014, 2967, 2303, 2573, 1988, 2578, 1998, 2458, 1956, 2052, 3979, 1922, 4115, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 2, 2, 2, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[ "Analysis", "of", "a", "missense", "variant", "of", "the", "human", "N-formyl", "peptide", "receptor", "that", "is", "associated", "with", "agonist-independent", "beta-arrestin", "association", "and", "indices", "of", "inflammation." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 2333, 1927, 43, 13519, 6031, 1927, 1920, 2616, 56, 17, 29285, 4207, 3148, 1988, 1977, 2458, 1956, 7829, 17, 3484, 4666, 17, 16639, 3279, 1930, 8836, 1927, 4531, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[]

[]

[ 2, 3 ]

[ 0, 0 ]

[ 1, 1 ]

[ -100, -100 ]

[ "Most", "females", "with", "seasonal", "affective", "disorder", "(SAD)", "exhibit", "atypical", "vegetative", "symptoms", "such", "as", "overeating,", "and", "weight", "gain", "when", "depressed.", "The", "serotonin", "2C", "receptor", "(5-HT(2C))", "plays", "a", "key", "role", "in", "control", "of", "appetite", "and", "satiety.", "A", "5-HT(2C)", "Cys", "23", "Ser", " ", "substitution,", "coded", "for", "by", "a", "single", "nucleotide", "polymorphism", "(", "Cys", "23", "Ser", ")", "within", "the", "5-HT(2C)", "gene,", "has", "been", "shown", "to", "influence", "5-HT(2C)", "function.", "We", "hypothesized", "that", "Cys", "23", "Ser", " ", "influences", "weight", "regulation", "in", "females", "with", "SAD.", "Two", "independent", "samples", "from", "Austria", "(162", "females", "with", "SAD,", "119", "controls),", "and", "Canada", "(90", "females", "with", "SAD,", "42", "controls)", "were", "genotyped", "for", "Cys", "23", "Ser", ".", "Influence", "on", "weight", "regulation", "was", "analyzed", "within", "patients", "with", "atypical", "features.", "In", "Austrians,", "genotype", "distribution", "differed", "between", "patients", "and", "controls", "(p=0.044)", "and", "Cys", "23", "Ser", " ", "was", "associated", "with", "weight", "(p=0.039),", "body", "mass", "index", "(BMI;", "p=0.038),", "and", "seasonal", "appetite", "change", "(p=0.031).", "All", "values", "were", "highest", "in", "Cys/Cys,", "intermediate", "in", "Cys/Ser,", "and", "lowest", "in", "Ser/Ser", "carriers.", "In", "Canadian", "patients,", "Cys", "23", "Ser", " ", "was", "associated", "with", "minimum", "lifetime", "BMI", "(p=0.046),", "with", "lowest", "values", "in", "Ser/Ser", "carriers.", "Our", "data", "provide", "evidence", "that", "Cys", "23", "Ser", " ", "mediates", "severity", "of", "weight", "regulation", "disturbances", "in", "females", "with", "SAD,", "and", "the", "gene-dose", "effect-like", "differences", "suggest", "a", "direct", "functional", "role", "of", "Cys", "23", "Ser", " ", "in", "the", "behavioral", "regulation", "of", "body", "weight." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 2501, 5027, 1956, 10995, 11863, 4770, 12, 12825, 13, 5987, 10834, 18823, 3601, 2427, 1966, 4564, 2287, 16, 1930, 3388, 5938, 2469, 11365, 18, 1920, 11153, 6921, 3148, 12, 25, 17, 5334, 12, 6921, 13, 13, 5705, 43, 3834, 2770, 1922, 2285, 1927, 17990, 1930, 28152, 18, 43, 25, 17, 5334, 12, 6921, 13, 4998, 3020, 2375, 6636, 16, 10178, 1958, 2007, 43, 2957, 5489, 8218, 12, 4998, 3020, 2375, 13, 2651, 1920, 25, 17, 5334, 12, 6921, 13, 2359, 16, 2258, 2252, 2522, 1942, 4039, 25, 17, 5334, 12, 6921, 13, 2347, 18, 2038, 7149, 1988, 4998, 3020, 2375, 8061, 3388, 3640, 1922, 5027, 1956, 12825, 18, 2288, 3484, 2785, 2037, 19825, 12, 15333, 5027, 1956, 12825, 16, 11022, 3562, 13, 16, 1930, 9552, 12, 3865, 5027, 1956, 12825, 16, 3858, 3562, 13, 1985, 14401, 1958, 4998, 3020, 2375, 18, 4039, 1990, 3388, 3640, 1982, 3265, 2651, 2132, 1956, 10834, 4075, 18, 1922, 19825, 3355, 16, 5619, 3282, 8459, 2192, 2132, 1930, 3562, 12, 58, 33, 20, 18, 25994, 13, 1930, 4998, 3020, 2375, 1982, 2458, 1956, 3388, 12, 58, 33, 20, 18, 24302, 13, 16, 3362, 3411, 3867, 12, 5259, 31, 58, 33, 20, 18, 22438, 13, 16, 1930, 10995, 17990, 3185, 12, 58, 33, 20, 18, 24333, 13, 18, 2136, 2851, 1985, 4554, 1922, 4998, 19, 4998, 16, 6129, 1922, 4998, 19, 2375, 16, 1930, 6738, 1922, 2375, 19, 2375, 8974, 18, 1922, 13870, 2132, 16, 4998, 3020, 2375, 1982, 2458, 1956, 6081, 9416, 5259, 12, 58, 33, 20, 18, 24625, 13, 16, 1956, 6738, 2851, 1922, 2375, 19, 2375, 8974, 18, 2342, 2230, 3394, 3095, 1988, 4998, 3020, 2375, 10412, 5155, 1927, 3388, 3640, 12654, 1922, 5027, 1956, 12825, 16, 1930, 1920, 2359, 17, 3253, 2495, 17, 3189, 2886, 3220, 43, 3083, 3183, 2770, 1927, 4998, 3020, 2375, 1922, 1920, 5343, 3640, 1927, 3362, 3388, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 1, 2, 2, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[ "Mutations", "in", "mitochondrially", "encoded", "complex", "I", "enzyme", "as", "the", "second", "common", "cause", "in", "a", "cohort", "of", "Chinese", "patients", "with", "mitochondrial", "myopathy,", "encephalopathy,", "lactic", "acidosis", "and", "stroke-like", "episodes." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 3527, 1922, 4596, 1954, 7905, 2796, 51, 4113, 1966, 1920, 2812, 3059, 3936, 1922, 43, 4382, 1927, 7185, 2132, 1956, 4596, 25017, 16, 19393, 16, 16562, 19051, 1930, 5235, 17, 3189, 9232, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[ "Characterisation", "of", "a", "large", "complex", "intragenic", "re-arrangement", "in", "the", "FVII", "gene", "(F7)", "avoiding", "misdiagnosis", "in", "inherited", "factor", "VII", "deficiency." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 27782, 1927, 43, 3103, 2796, 27911, 7245, 1964, 17, 13002, 1922, 1920, 11417, 3907, 2359, 12, 48, 1027, 13, 13910, 23887, 2475, 1922, 12911, 2991, 16852, 6179, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]

[ "Germline", "deletions", "of", "EXO1", "do", "not", "cause", "colorectal", "tumors", "and", "lesions", "which", "are", "null", "for", "EXO1", "do", "not", "have", "microsatellite", "instability." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 2, 12237, 10550, 1927, 18930, 1009, 2608, 2084, 3936, 7820, 3861, 1930, 4518, 2154, 2032, 6764, 1958, 18930, 1009, 2608, 2084, 2162, 16069, 9557, 18, 3 ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1, 1 ]

[ -100, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, -100 ]