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tmvar_split_0404_dev

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[ "Genes", "of", "the", "renin-angiotensin", "system", "(RAS)", "are", "involved", "in", "the", "progression", "of", "renal", "failure.", "Among", "them,", "the", "angiotensin-converting", "enzyme", "(ACE),", "angiotensinogen", "(AGT)", "and", "angiotensin", "II", "type", "1", "receptor", "(AT1R)", "genes", "are", "of", "particular", "interest.", "We", "examined", "polymorphisms", "of", "these", "three", "genes", "for", "association", "with", "the", "development", "of", "interstitial", "nephritis", "and", "progression", "to", "end-stage", "renal", "failure.", "The", "allele", "frequency", "and", "genotype", "distribution", "were", "compared", "in", "90", "patients", "with", "interstitial", "nephritis", "and", "200", "healthy", "controls.", "DNA", "samples", "were", "genotyped", "by", "polymerase", "chain", "reaction", "(PCR).", "We", "did", "not", "find", "statistically", "significant", "differences", "between", "groups", "in", "the", "insertion/deletion", "polymorphism", "of", "the", "ACE", "gene.", "An", "involvement", "of", "M235T", " ", "polymorphism", "of", "the", "AGT", "gene", "in", "renal", "disease", "was", "observed", "in", "our", "study.", "The", "frequency", "of", "the", "T", "allele", "was", "higher", "in", "patients", "than", "in", "controls", "(32%", "vs.", "24%).", "In", "the", "A1166C", " ", "AT1R", "polymorphism", "the", "homozygous", "CC", "genotype", "was", "also", "more", "frequent", "in", "interstitial", "nephritis", "patients", "(7%", "vs.", "3.5%).", "In", "patients", "carrying", "the", "C", "allele,", "an", "average", "time", "to", "ESRD", "was", "significantly", "shorter", "than", "in", "subjects", "with", "the", "AA", "genotype.", "Our", "study", "shows", "the", "association", "of", "the", "AGT", "and", "AT1R", "gene", "polymorphisms", "with", "the", "development", "and", "progression", "of", "interstitial", "nephritis.", "The", "C", "allele", "of", "the", "A1166C", " ", "polymorphism", "appears", "to", "be", "a", "risk", "factor", "for", "faster", "disease", "progression." ]

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[ "Carboxy-terminal", "sequence", "variation", "of", "LMP1", "gene", "in", "Epstein-Barr-virus-associated", "mononucleosis", "and", "tumors", "from", "Serbian", "patients." ]

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[ "BACKGROUND:", "Psoriasis", "is", "a", "common", "dermatological", "disorder,", "in", "which", "autoimmunity", "plays", "an", "important", "role.", "CD4(+)CD25(+)", "regulatory", "T", "cells", "(T-regs)", "have", "been", "suggested", "to", "be", "involved", "in", "the", "pathogenesis", "of", "some", "autoimmune", "diseases.", "T-regs", "express", "the", "fork", "head/winged", "helix", "transcription", "factor,", "FOXP3,", "which", "appears", "to", "be", "of", "key", "importance", "in", "the", "development", "and", "function", "of", "T-regs.", "Studies", "have", "found", "that", "single-nucleotide", "polymorphisms", "(SNPs)", "in", "the", "FOXP3", "gene", "contribute", "to", "susceptibility", "to", "some", "autoimmune", "disorders.", "However,", "information", "about", "FOXP3", "gene", "in", "psoriasis", "is", "limited.", "OBJECTIVE:", "This", "study", "evaluated", "the", "association", "between", "FOXP3", "gene", "SNPs", "and", "susceptibility", "to", "psoriasis", "in", "a", "Han", "Chinese", "population.", "METHODS:", "In", "a", "hospital-based", "case-control", "study,", "524", "patients", "with", "psoriasis", "and", "549", "psoriasis-free", "controls", "were", "recruited", "according", "to", "age", "and", "gender.", "We", "investigated", "four", "SNPs", "in", "the", "FOXP3", "gene", "(", "-6054,", "deletion/ATT", ";", "-3279,", "A/C", ";", "-924,", "A/G", ";", "IVS9+459,", "A/G", ")", "in", "psoriatic", "patients,", "and", "assessed", "allele", "and", "genotype", "frequencies", "in", "psoriatic", "patients", "(237", "females,", "287", "males)", "and", "normal", "controls", "(272", "females,", "277", "males).", "The", "polymorphisms", "were", "genotyped", "using", "the", "PCR", "sequence-specific", "primer", "(PCR-SSP)", "technique", "and", "PCR-restriction", "fragment", "length", "polymorphism", "(RFLP)", "analysis.", "RESULTS:", "We", "found", "that", "increased", "risk", "of", "psoriasis", "was", "associated", "with", "the", "FOXP3", "-3279", "AC", "genotype", "(adjusted", "OR,", "1.32;", "95%", "CI,", "1.01-1.74)", "and", "the", "combined", "AC+AA", "genotype", "(adjusted", "OR,", "1.38;", "95%", "CI,", "1.07-1.78),", "compared", "with", "the", "-3279", "CC", "genotype.", "We", "also", "found", "that", "an", "increased", "risk", "of", "psoriasis", "was", "associated", "with", "the", "FOXP3", "IVS9+459", "GG", "genotype", "(adjusted", "OR,", "2.24;", "95%", "CI,", "1.41-3.58).", "However,", "the", "combined", "GA+GG", "genotype", "showed", "no", "such", "tendency", "(adjusted", "OR=1.28;", "95%", "CI,", "1.00-1.64),", "compared", "with", "the", "IVS9+459", "AA", "genotype.", "There", "was", "no", "evidence", "of", "an", "increased", "risk", "associated", "with", "the", "FOXP3", "-6054", "deletion/ATT", " ", "or", "FOXP3", "-924", "A/G", " ", "genotype.", "In", "combined", "genotype", "analyses,", "the", "FOXP3-3279", "AC+AA", "genotype", "was", "more", "obviously", "associated", "in", "males", "(adjusted", "OR=1.60,", "95%", "CI=1.11-2.31)", "and", "severe", "psoriasis", "patients", "(PASI", "score", ">20;", "adjusted", "OR=1.97,", "95%", "CI=1.41-2.75).", "Meanwhile,", "the", "FOXP3", "IVS9+459", "GA+GG", "genotype", "was", "also", "associated", "with", "severe", "psoriasis", "patients", "(adjusted", "OR=1.69,", "95%", "CI=1.21-2.36).", "CONCLUSIONS:", "FOXP3", "polymorphisms", "appear", "to", "contribute", "to", "the", "risk", "of", "psoriasis", "in", "a", "Han", "Chinese", "population.", "Larger", "studies", "are", "needed", "to", "confirm", "these", "findings." ]

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[ "The", "TREX1", "exonuclease", "R114H", " ", "mutation", "in", "Aicardi-Gouti", " ", "res", "syndrome", "and", "lupus", "reveals", "dimeric", "structure", "requirements", "for", "DNA", "degradation", "activity." ]

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[ "AIMS:", "Disrupted-in", "schizophrenia", "1", "(DISC1),", "identified", "in", "a", "pedigree", "with", "a", "familial", "psychosis", "with", "the", "chromosome", "translocation", "(1:11),", "is", "a", "putative", "susceptibility", "gene", "for", "psychoses", "such", "as", "schizophrenia", "and", "major", "depressive", "disorder", "(MDD).", "Patients", "with", "chronic", "fatigue", "syndrome", "(CFS)", "report", "having", "continuous", "severe", "fatigue", "and", "many", "overlapping", "symptoms", "with", "MDD;", "however,", "the", "mechanism", "and", "effective", "treatment", "of", "CFS", "are", "still", "unclear.", "We", "focused", "on", "the", "overlapping", "symptoms", "between", "CFS", "and", "MDD", "and", "performed", "an", "association", "study", "of", "the", "functional", "single-nucleotide", "polymorphism", "(SNP)", "in", "the", "DISC1", "gene", "with", "CFS.", "MAIN", "METHODS:", "Venous", "blood", "was", "drawn", "from", "CFS", "patients", "and", "controls", "and", "genomic", "DNA", "was", "extracted", "from", "the", "whole", "blood", "according", "to", "standard", "procedures.", "Ser704Cys", " ", "DISC1", "SNP", "was", "genotyped", "using", "the", "TaqMan", "5'-exonuclease", "allelic", "discrimination", "assay.", "KEY", "FINDINGS:", "We", "found", "that", "the", "Cys704", "allele", "of", "Ser704Cys", " ", "SNP", "was", "associated", "with", "an", "increased", "risk", "of", "CFS", "development", "compared", "with", "the", "Ser704", "allele.", "SIGNIFICANCE:", "DISC1", "Ser704Cys", " ", "might", "be", "a", "functional", "variant", "that", "affects", "one", "of", "the", "mechanisms", "implicated", "in", "the", "biology", "of", "CFS.", "Some", "patients", "with", "CFS", "showed", "a", "phenotype", "similar", "to", "that", "of", "patients", "with", "MDD,", "but", "further", "studies", "are", "needed", "to", "clarify", "the", "biological", "mechanism,", "because", "this", "study", "is", "of", "a", "rather", "preliminary", "nature.", "Despite", "the", "variety", "of", "patients", "with", "CFS,", "DISC1", "Ser704Cys", " ", "has", "an", "association", "with", "CFS,", "which", "may", "also", "suggest", "that", "DISC1", "plays", "a", "central", "role", "in", "the", "induction", "of", "various", "psychiatric", "diseases." ]

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[ "PURPOSE:", "Congenital", "microcoria", "is", "a", "rare", "autosomal", "dominant", "developmental", "disorder", "of", "the", "iris", "associated", "with", "myopia", "and", "juvenile", "open", "angle", "glaucoma.", "Linkage", "to", "the", "chromosomal", "locus", "13q31-q32", "has", "previously", "been", "reported", "in", "a", "large", "French", "family.", "In", "the", "current", "study,", "a", "three", "generation", "Asian", "Indian", "family", "with", "15", "congenital", "microcoria", "(pupils", "with", "a", "diameter", "<2", "mm)", "affected", "members", "was", "studied", "for", "linkage", "to", "candidate", "microsatellite", "markers", "at", "the", "13q31-q32", "locus.", "METHODS:", "Twenty-four", "members", "of", "the", "family", "were", "clinically", "examined", "and", "genomic", "DNA", "was", "extracted.", "Microsatellite", "markers", "at", "13q31-q32", "were", "PCR", "amplified", "and", "run", "on", "an", "ABI", "Prism", "310", "genetic", "analyzer", "and", "genotyped", "with", "the", "GeneScan", "analysis.", "Two", "point", "and", "multipoint", "linkage", "analyses", "were", "performed", "using", "the", "MLINK", "and", "SUPERLINK", "programs.", "RESULTS:", "Peak", "two", "point", "LOD", "scores", "of", "3.5,", "4.7,", "and", "5.3", "were", "found", "co-incident", "with", "consecutive", "markers", "D13S154,", "DCT,", "and", "D13S1280.", "Multipoint", "analysis", "revealed", "a", "4", "cM", "region", "encompassing", "D13S1300", "to", "D13S1280", "where", "the", "LOD", "remains", "just", "over", "6.0", "Thus", "we", "confirm", "localization", "of", "the", "congenital", "microcoria", "locus", "to", "chromosomal", "locus", "13q31-q32.", "In", "addition,", "eight", "individuals", "who", "had", "both", "microcoria", "and", "glaucoma", "were", "screened", "for", "glaucoma", "genes:", "myocilin", "(MYOC),", "optineurin", "(OPTN)", "and", "CYP1B1.", "Using", "direct", "sequencing", "a", "point", "mutation", "(", "144", "G>A", ")", "resulting", "in", "a", "Q48H", " ", "substitution", "in", "exon", "1", "of", "the", "MYOC", "gene", "was", "observed", "in", "five", "of", "the", "eight", "glaucoma", "patients,", "but", "not", "in", "unaffected", "family", "members", "and", "100", "unrelated", "controls.", "CONCLUSIONS:", "We", "have", "confirmed", "the", "localization", "of", "the", "congenital", "microcoria", "locus", "(MCOR)", "to", "13q31-q32", "in", "a", "large", "Asian", "Indian", "family", "and", "conclude", "that", "current", "information", "suggests", "this", "is", "a", "single", "locus", "disorder", "and", "genetically", "homogeneous.", "When", "combined", "with", "the", "initial", "linkage", "paper", "our", "haplotype", "and", "linkage", "data", "map", "the", "MCOR", "locus", "to", "a", "6-7", "cM", "region", "between", "D13S265", "and", "D13S1280.", "The", "DCT", "locus,", "a", "member", "of", "the", "tyrosinase", "family", "involved", "in", "pigmentation,", "maps", "within", "this", "region.", "Data", "presented", "here", "supports", "the", "hypothesis", "that", "congenital", "microcoria", "is", "a", "potential", "risk", "factor", "for", "glaucoma,", "although", "this", "observation", "is", "complicated", "by", "the", "partial", "segregation", "of", "MYOC", "Q48H", " ", "(1q24.3-q25.2),", "a", "mutation", "known", "to", "be", "associated", "with", "glaucoma", "in", "India.", "Fine", "mapping", "and", "candidate", "gene", "analysis", "continues", "with", "the", "hope", "that", "characterizing", "the", "micocoria", "gene", "will", "lead", "to", "a", "better", "understanding", "of", "microcoria", "and", "glaucoma", "causation.", "The", "relationship", "between", "microcoria,", "glaucoma,", "and", "the", "MYOC", "Q48H", " ", "mutation", "in", "this", "family", "is", "discussed." ]

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[ "BACKGROUND:", "Autosomal", "dominant", "polycystic", "kidney", "disease", "(ADPKD),", "which", "is", "caused", "by", "mutations", "in", "polycystins", "1", "(PC1)", "and", "2", "(PC2),", "is", "one", "of", "the", "most", "commonly", "inherited", "renal", "diseases,", "affecting", "~1", ":", "1000", "Caucasians.", "MATERIALS", "AND", "METHODS:", "We", "screened", "Greek", "ADPKD", "patients", "with", "the", "denaturing", "gradient", "gel", "electrophoresis", "(DGGE)", "assay", "and", "direct", "sequencing.", "RESULTS:", "We", "identified", "a", "patient", "homozygous", "for", "a", "nucleotide", "change", "c.1445T", ">", "G", ",", "resulting", "in", "a", "novel", "homozygous", "substitution", "of", "the", "non-polar", "hydrophobic", "phenylalanine", "to", "the", "polar", "hydrophilic", "cysteine", "in", "exon", "6", "at", "codon", "482", "(", "p.F482C", ")", "of", "the", "PKD2", "gene", "and", "a", "de-novo", "PKD1", "splice-site", "variant", "IVS21-2delAG", ".", "We", "did", "not", "find", "this", "PKD2", "variant", "in", "a", "screen", "of", "280", "chromosomes", "of", "healthy", "subjects,", "supporting", "its", "pathogenicity.", "The", "proband's", "parents", "did", "not", "have", "the", "PKD1", "mutation.", "Real-time", "PCR", "of", "the", "PKD2", "transcript", "from", "a", "skin", "biopsy", "revealed", "20-fold", "higher", "expression", "in", "the", "patient", "than", "in", "a", "healthy", "subject", "and", "was", "higher", "in", "the", "patient's", "peripheral", "blood", "mononuclear", "cells", "(PBMCs)", "than", "in", "those", "of", "her", "heterozygote", "daughter", "and", "a", "healthy", "subject.", "The", "greater", "gene", "expression", "was", "also", "supported", "by", "Western", "blotting.", "Inner", "medullar", "collecting", "duct", "(IMCD)", "cells", "transfected", "with", "the", "mutant", "PKD2", "mouse", "gene", "presented", "a", "perinuclear", "and", "diffuse", "cytoplasmic", "localization", "compared", "with", "the", "wild", "type", "ER", "localization.", "Patch-clamping", "of", "PBMCs", "from", "the", "p.F482C", " ", "homozygous", "and", "heterozygous", "subjects", "revealed", "lower", "polycystin-2", "channel", "function", "than", "in", "controls.", "CONCLUSIONS:", "We", "report", "for", "the", "first", "time", "a", "patient", "with", "ADPKD", "who", "is", "heterozygous", "for", "a", "de", "novo", "PKD1", "variant", "and", "homozygous", "for", "a", "novel", "PKD2", "mutation." ]

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[ "A", "novel", "compound", "heterozygous", "mutation", "in", "the", "CYP17", "(P450", "17alpha-hydroxylase)", "gene", "leading", "to", "17alpha-hydroxylase/17,20-lyase", "deficiency." ]

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[ "OBJECTIVE:", "The", "present", "study", "aimed", "to", "estimate", "the", "association", "between", "susceptibility", "to", "migraine", "and", "the", "12-nucleotide", "insertion/deletion", "(indel)", "polymorphism", "in", "promoter", "region", "of", "alpha(2B)-adrenergic", "receptor", "gene", "(ADRA2B).", "METHODS:", "A", "case-control", "study", "was", "carried", "out", "in", "Chinese", "Han", "population,", "including", "368", "cases", "of", "migraine", "and", "517", "controls.", "Genomic", "DNA", "was", "extracted", "from", "blood", "samples,", "and", "DNA", "fragments", "containing", "the", "site", "of", "polymorphism", "were", "amplified", "by", "PCR.", "Data", "were", "adjusted", "for", "sex,", "age,", "migraine", "history", "and", "family", "history,", "and", "analyzed", "using", "a", "logistic", "regression", "model.", "RESULTS:", "There", "was", "no", "association", "between", "indel", "polymorphism", "and", "migraine,", "at", "either", "the", "allele", "or", "the", "genotype", "level.", "CONCLUSION:", "These", "findings", "do", "not", "support", "a", "functional", "significance", "of", "ADRA2B", "indel", "polymorphism", "at", "position", "-4825", "relative", "to", "the", "start", "codon", "in", "the", "far", "upstream", "region", "of", "the", "promoter", "in", "the", "present", "migraine", "subjects." ]

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[ "Entry", "of", "human", "immunodeficiency", "type", "1", "virus", "(HIV-1)", "into", "target", "cells", "requires", "both", "CD(4)and", "one", "of", "the", "chemokine", "receptors.", "Viruses", "predominantly", "use", "one,", "or", "occasionally", "both,", "of", "the", "major", "co-receptors", "CCR5", "and", "CXCR4,", "although", "other", "receptors,", "including", "CCR2B", "and", "CCR3,", "function", "as", "minor", "co-receptors.", "A", "32-nucleotide", "deletion", "(D32)", "within", "the", "b-chemokine", "receptor", "5", "gene", "(CCR5)", "has", "been", "described", "in", "subjects", "who", "remain", "uninfected", "despite", "extensive", "exposition", "to", "HIV-1.", "The", "heterozygous", "genotype", "delays", "disease", "progression.", "This", "allele", "is", "common", "among", "Caucasians,", "but", "has", "not", "been", "found", "in", "people", "of", "African", "or", "Asian", "ancestry.", "A", "more", "common", "transition", "involving", "a", "valine", "to", "isoleucine", "switch", "in", "transmembrane", "domain", "I", "of", "CCR2B", "(64I),", "with", "unknown", "functional", "consequences,", "was", "found", "to", "delay", "disease", "progression", "but", "not", "to", "reduce", "infection", "risk.", "As", "the", "Brazilian", "population", "consists", "of", "a", "mixture", "of", "several", "ethnic", "groups,", "we", "decided", "to", "examine", "the", "genotype", "frequency", "of", "these", "polymorphisms", "in", "this", "country.", "There", "were", "11.5%", "CCR5", "heterozygotes", "among", "the", "HIV-1", "infected", "population", "and", "12.5%", "among", "uninfected", "individuals,", "similar", "to", "data", "from", "North", "America", "and", "Western", "Europe.", "The", "prevalence", "of", "CCR2-64I", "homozygotes", "and", "heterozygotes", "was", "0.06", "and", "15.2%,", "respectively,", "also", "similar", "to", "what", "is", "known", "for", "North", "America", "and", "Western", "Europe." ]

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[ "BACKGROUND:", "Recent", "data", "has", "suggested", "that", "polymorphisms", "in", "the", "prostate", "specific", "antigen", "(PSA)", "may", "increase", "prostate", "cancer", "(PC)", "risk.", "The", "PSA", "gene", "contains", "a", "G/A", " ", "substitution", "in", "the", "androgen", "response", "element", "(ARE)", "1", "region.", "The", "androgen", "receptor", "(AR)", "gene", "has", "polymorphic", "regions", "containing", "variable", "length", "glutamine", "and", "glycine", "repeats", "and", "these", "are", "believed", "to", "be", "associated", "with", "PC", "risk.", "The", "effect", "on", "PC", "risks", "from", "PSA", "polymorphisms", "alone", "and", "synergistically", "with", "the", "AR", "gene", "was", "examined", "in", "this", "report.", "METHODS:", "One", "hundred", "PC", "patients", "and", "an", "age", "matched", "cohort", "of", "79", "benign", "prostate", "hyperplasia", "and", "67", "population", "controls", "were", "entered", "in", "this", "study.", "DNA", "was", "extracted", "from", "blood", "and", "PSA/ARE", "promoter", "region", "amplified", "by", "PCR.", "PCR", "products", "were", "cut", "with", "Nhe", "1", "restriction", "enzyme", "to", "distinguish", "G/A", " ", "alleles.", "AR/CAG", "and", "GGC", "repeat", "length", "was", "detected", "by", "automated", "fluorescence", "from", "PCR", "products.", "RESULTS:", "We", "found", "a", "significantly", "higher", "PSA/GG", "distribution", "in", "PC", "(30%)", "than", "either", "benign", "prostatic", "hyperplasia", "(BPH)", "(18%)", "or", "population", "controls", "(16%)", "(P", "=", "0.025).", "Furthermore", "the", "GG", "distribution", "within", "cases", "was", "even", "greater", "in", "younger", "men", "(<", "65", "years;", "42%;", "P", "=", "0.012).", "Additionally,", "when", "PSA", "genotype", "was", "cross", "classified", "with", "CAG", "repeat,", "significantly", "more", "cases", "than", "both", "BPH", "and", "population", "controls", "were", "observed", "to", "have", "a", "short", "(<", "22)", "CAG/GG", "genotype", "(P", "=", "0.006).", "CONCLUSIONS:", "Our", "results", "indicate", "that", "the", "PSA/ARE", "GG", "genotype", "confers", "an", "increased", "risk", "of", "PC", "especially", "among", "younger", "men.", "Moreover,", "we", "confirm", "previous", "results", "that", "a", "short", "glutamine", "repeat", "in", "conjunction", "with", "GG", "genotype", "significantly", "increases", "the", "risk", "of", "malignant", "disease." ]

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[ "Analysis", "of", "a", "nuclear", "family", "with", "three", "affected", "offspring", "identified", "an", "autosomal-recessive", "form", "of", "spondyloepimetaphyseal", "dysplasia", "characterized", "by", "severe", "short", "stature", "and", "a", "unique", "constellation", "of", "radiographic", "findings.", "Homozygosity", "for", "a", "haplotype", "that", "was", "identical", "by", "descent", "between", "two", "of", "the", "affected", "individuals", "identified", "a", "locus", "for", "the", "disease", "gene", "within", "a", "17.4", "Mb", "interval", "on", "chromosome", "15,", "a", "region", "containing", "296", "genes.", "These", "genes", "were", "assessed", "and", "ranked", "by", "cartilage", "selectivity", "with", "whole-genome", "microarray", "data,", "revealing", "only", "two", "genes,", "encoding", "aggrecan", "and", "chondroitin", "sulfate", "proteoglycan", "4,", "that", "were", "selectively", "expressed", "in", "cartilage.", "Sequence", "analysis", "of", "aggrecan", "complementary", "DNA", "from", "an", "affected", "individual", "revealed", "homozygosity", "for", "a", "missense", "mutation", "(", "c.6799G", "-->", "A", ")", "that", "predicts", "a", "p.D2267N", " ", "amino", "acid", "substitution", "in", "the", "C-type", "lectin", "domain", "within", "the", "G3", "domain", "of", "aggrecan.", "The", "D2267", "residue", "is", "predicted", "to", "coordinate", "binding", "of", "a", "calcium", "ion,", "which", "influences", "the", "conformational", "binding", "loops", "of", "the", "C-type", "lectin", "domain", "that", "mediate", "interactions", "with", "tenascins", "and", "other", "extracellular-matrix", "proteins.", "Expression", "of", "the", "normal", "and", "mutant", "G3", "domains", "in", "mammalian", "cells", "showed", "that", "the", "mutation", "created", "a", "functional", "N-glycosylation", "site", "but", "did", "not", "adversely", "affect", "protein", "trafficking", "and", "secretion.", "Surface-plasmon-resonance", "studies", "showed", "that", "the", "mutation", "influenced", "the", "binding", "and", "kinetics", "of", "the", "interactions", "between", "the", "aggrecan", "G3", "domain", "and", "tenascin-C.", "These", "findings", "identify", "an", "autosomal-recessive", "skeletal", "dysplasia", "and", "a", "significant", "role", "for", "the", "aggrecan", "C-type", "lectin", "domain", "in", "regulating", "endochondral", "ossification", "and,", "thereby,", "height." ]

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[]

[]

[ "A", "novel", "single-nucleotide", "substitution,", "Glu", "4", "Lys", ",", "in", "the", "leukotriene", "C4", "synthase", "gene", "associated", "with", "allergic", "diseases." ]

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[ "Compound", "heterozygosity", "for", "a", "novel", "nine-nucleotide", "deletion", "and", "the", "Asn45Ser", " ", "missense", "mutation", "in", "the", "glycoprotein", "IX", "gene", "in", "a", "patient", "with", "Bernard-Soulier", "syndrome." ]

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[ "Williams-Beuren", "syndrome", "(WBS)", "is", "a", "neurodevelopmental", "microdeletion", "disorder", "that", "usually", "occurs", "sporadically", "due", "to", "its", "location", "within", "a", "highly", "repetitive", "genomic", "region", "that", "is", "unstable", "and", "prone", "to", "unequal", "cross-over", "during", "meiosis.", "The", "consequential", "loss", "of", "chromosomal", "material", "includes", "approximately", "1.5", "Mb", "of", "DNA", "at", "7q11.23.", "Whilst", "cases", "of", "dominant", "inheritance", "have", "been", "described", "in", "the", "literature,", "there", "have", "been", "few", "reports", "of", "molecular", "confirmation", "and", "none", "have", "carried", "out", "detailed", "genotyping.", "We", "describe", "a", "Bulgarian", "father", "and", "son", "with", "WBS", "detected", "by", "fluorescent", "in", "situ", "hybridisation", "(with", "an", "elastin", "gene", "probe)", "and", "loss", "of", "heterozygosity", "mapping", "using", "microsatellite", "markers", "located", "in", "the", "critical", "region.", "These", "individuals", "appear", "to", "have", "a", "common", "WBS", "heterozygous", "deletion,", "confirming", "the", "expected", "dominant", "transmission", "and", "adding", "to", "the", "few", "familial", "cases", "reported.", "The", "deletion", "includes", "the", "gene", "FKBP6", "which", "has", "recently", "been", "shown", "to", "play", "a", "role", "in", "homologous", "chromosome", "pairing", "in", "meiosis", "and", "male", "fertility", "in", "mouse", "models.", "Homozygous", "Fkbp6", "-/-", "male", "mice", "are", "infertile", "and", "our", "data", "suggests", "that", "haploinsufficiency", "for", "FKBP6", "does", "not", "appear", "to", "preclude", "male", "fertility", "in", "WBS,", "although", "male", "infertility", "involving", "this", "gene", "has", "the", "potential", "to", "follow", "the", "mouse", "model", "as", "a", "human", "autosomal", "recessive", "condition." ]

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[ "The", "first", "founder", "DGUOK", "mutation", "associated", "with", "hepatocerebral", "mitochondrial", "DNA", "depletion", "syndrome." ]

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[ "BACKGROUND:", "C-C", "chemokine", "receptor", "5", "(CCR5)", "is", "involved", "in", "the", "regulation", "of", "the", "inflammatory", "response.", "Abdominal", "aortic", "aneurysms", "(AAA)", "may", "arise", "as", "the", "result", "of", "a", "chronic", "inflammatory", "process", "which", "is", "influenced", "by", "genetic", "predisposition.", "The", "CCR5", "gene", "is", "associated", "with", "a", "32", "base", "pair", "deletion", "(the", "Delta32", " ", "polymorphism).", "The", "aim", "of", "this", "study", "was", "to", "investigate", "the", "role", "of", "the", "CCR5", "Delta32", " ", "polymorphism", "in", "the", "development", "of", "AAA.", "METHODS:", "A", "case-control", "study", "was", "conducted", "including", "285", "patients", "with", "AAA", "and", "273", "control", "subjects.", "A", "blood", "sample", "was", "taken", "from", "each", "individual", "and", "DNA", "was", "extracted.", "CCR5", "genotype", "was", "determined", "using", "the", "polymerase", "chain", "reaction", "(PCR).", "Flow", "cytometry", "was", "used", "to", "investigate", "the", "biological", "activity", "of", "the", "Delta32", " ", "polymorphism.", "RESULTS:", "There", "was", "no", "significant", "difference", "between", "the", "AAA", "and", "the", "control", "group", "in", "relation", "to", "the", "Delta32", " ", "allele", "frequency", "(AAA", "group", "10%,", "control", "group", "=", "12%,", "P", "=", "0.82,", "chi-squared", "analysis).", "Genotype", "analysis", "revealed", "no", "significant", "difference", "between", "the", "groups", "(AAA", "vs.", "controls,", "wild-type", "homozygotes", "=", "82%", "vs.", "77%,", "heterozygotes", "=", "16%", "vs.", "21%,", "vs.", "Delta32", " ", "homozygotes", "=", "2%", "and", "2%,", "respectively,", "P", "=", "0.33,", "chi-squared", "analysis).", "The", "polymorphism", "was", "shown", "to", "be", "biologically", "active", "with", "the", "number", "of", "Delta32", " ", "alleles", "correlating", "with", "cell", "expression", "of", "ccr5", "as", "detected", "with", "flow", "cytometry", "(P", "<", "or", "=", "0.05).", "CONCLUSION:", "This", "study", "demonstrates", "that", "the", "ccr5", "Delta32", " ", "is", "a", "biologically", "active", "genetic", "polymorphism;", "however,", "there", "is", "no", "association", "between", "this", "polymorphism", "and", "AAA." ]

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[ "Restricted", "genetic", "defects", "underlie", "human", "complement", "C6", "deficiency." ]

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[ "The", "life", "cycle", "of", "the", "hepatitis", "C", "virus", "(HCV)", "is", "closely", "related", "to", "host", "lipoprotein", "metabolism.", "Serum", "levels", "of", "lipid", "are", "associated", "with", "the", "response", "to", "pegylated", "interferon", "plus", "ribavirin", "(PEG-IFN/RBV)", "therapy,", "while", "single", "nucleotide", "polymorphisms", "(SNPs)", "around", "the", "human", "interleukin", "28B", "(IL28B)", "gene", "locus", "and", "amino", "acid", "substitutions", "in", "the", "core", "region", "of", "the", "HCV", "have", "been", "reported", "to", "affect", "the", "efficacy", "of", "PEG-IFN/RBV", "therapy", "in", "chronic", "hepatitis", "with", "HCV", "genotype", "1b", "infection.", "The", "aim", "of", "this", "study", "was", "to", "elucidate", "the", "relationship", "between", "serum", "lipid", "and", "factors", "that", "are", "able", "to", "predict", "the", "efficacy", "of", "PEG-IFN/RB", "therapy,", "with", "specific", "focus", "on", "apolipoprotein", "B-100", "(apoB-100)", "in", "148", "subjects", "with", "chronic", "HCV", "G1b", "infection.", "Our", "results", "demonstrated", "that", "both", "the", "aa", "70", "substitution", "in", "the", "core", "region", "of", "the", "HCV", "and", "the", "rs8099917", " ", "SNP", "located", "proximal", "to", "the", "IL28B", "were", "independent", "factors", "in", "determining", "serum", "apoB-100", "and", "low-density", "lipoprotein", "(LDL)", "cholesterol", "levels.", "A", "significant", "association", "was", "noted", "between", "higher", "levels", "of", "apoB-100", "(P", "=", "1.1", " ", "10(-3))", "and", "LDL", "cholesterol", "(P", "=", "0.02)", "and", "the", "subjects", "having", "Arg70.", "A", "significant", "association", "was", "also", "observed", "between", "subjects", "carrying", "the", "rs8099917", " ", "TT", "responder", "genotype", "and", "higher", "levels", "of", "apoB-100", "(P", "=", "6.4", " ", "10(-3))", "and", "LDL", "cholesterol", "(P", "=", "4.2", " ", "10(-3)).", "Our", "results", "suggest", "that", "apoB-100", "and", "LDL", "cholesterol", "are", "markers", "of", "impaired", "cellular", "lipoprotein", "pathways", "and/or", "host", "endogenous", "interferon", "response", "to", "HCV", "in", "chronic", "HCV", "infection.", "In", "particular,", "serum", "apoB-100", "concentration", "might", "be", "an", "informative", "marker", "for", "judging", "changes", "in", "HCV-associated", "intracellular", "lipoprotein", "metabolism", "in", "patients", "carrying", "the", "rs8099917", " ", "responder", "genotype." ]

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[ "Manganese", "superoxide", "dismutase", "(Mn-SOD)", "gene", "polymorphisms", "in", "urolithiasis." ]

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[ "BACKGROUND:", "The", "apolipoprotein", "E", "gene", "(APOE)", "coding", "polymorphism", "modifies", "the", "risks", "of", "Alzheimer's", "disease,", "type", "2", "diabetes,", "and", "coronary", "heart", "disease.", "Aside", "from", "the", "coding", "variants,", "single", "nucleotide", "polymorphism", "(SNP)", "of", "the", "APOE", "promoter", "has", "also", "been", "shown", "to", "modify", "the", "risk", "of", "Alzheimer's", "disease.", "METHODOLOGY/PRINCIPAL", "FINDINGS:", "In", "this", "study", "we", "investigate", "the", "genotype-function", "relationship", "of", "APOE", "promoter", "polymorphism", "at", "molecular", "level", "and", "at", "physiological", "level:", "i.e.,", "in", "transcription", "control", "of", "the", "gene", "and", "in", "the", "risk", "of", "type", "2", "diabetes.", "In", "molecular", "studies,", "the", "effect", "of", "the", "APOE", "-491A/T", " ", "(", "rs449647", ")", "polymorphism", "on", "gene", "transcription", "was", "accessed", "by", "dual-luciferase", "reporter", "gene", "assays.", "The", "-491", "A", "to", "T", " ", "substitution", "decreased", "the", "activity", "(p<0.05)", "of", "the", "cloned", "APOE", "promoter", "(-1017", "to", "+406).", "Using", "the", "-501", "to", "-481", "nucleotide", "sequence", "of", "the", "APOE", "promoter", "as", "a", "'bait'", "to", "screen", "the", "human", "brain", "cDNA", "library", "by", "yeast", "one-hybrid", "system", "yielded", "ATF4,", "an", "endoplasmic", "reticulum", "stress", "response", "gene,", "as", "one", "of", "the", "interacting", "factors.", "Electrophoretic-mobility-shift", "assays", "(EMSA)", "and", "chromatin", "immuno-precipitation", "(ChIP)", "analyses", "further", "substantiated", "the", "physical", "interaction", "between", "ATF4", "and", "the", "APOE", "promoter.", "Over-expression", "of", "ATF4", "stimulated", "APOE", "expression", "whereas", "siRNA", "against", "ATF4", "suppressed", "the", "expression", "of", "the", "gene.", "However,", "interaction", "between", "APOE", "promoter", "and", "ATF4", "was", "not", "-491A/T", "-specific.", "At", "physiological", "level,", "the", "genotype-function", "relationship", "of", "APOE", "promoter", "polymorphism", "was", "studied", "in", "type", "2", "diabetes.", "In", "630", "cases", "and", "595", "controls,", "three", "APOE", "promoter", "SNPs", "-491A/T", ",", "-219G/T", " ", "(", "rs405509", "),", "and", "+113G/C", " ", "(", "rs440446", ")", "were", "genotyped", "and", "tested", "for", "association", "with", "type", "2", "diabetes", "in", "Hong", "Kong", "Chinese.", "No", "SNP", "or", "haplotype", "association", "with", "type", "2", "diabetes", "was", "detected.", "CONCLUSIONS/SIGNIFICANCE:", "At", "molecular", "level,", "polymorphism", "-491A/T", " ", "and", "ATF4", "elicit", "independent", "control", "of", "APOE", "gene", "expression.", "At", "physiological", "level,", "no", "genotype-risk", "association", "was", "detected", "between", "the", "studied", "APOE", "promoter", "SNPs", "and", "type", "2", "diabetes", "in", "Hong", "Kong", "Chinese." ]

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[ "Features", "of", "epidermolysis", "bullosa", "simplex", "due", "to", "mutations", "in", "the", "ectodomain", "of", "type", "XVII", "collagen." ]

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[ "Single", "nucleotide", "polymorphisms", "of", "the", "HNF4alpha", "gene", "are", "associated", "with", "the", "conversion", "to", "type", "2", "diabetes", "mellitus:", "the", "STOP-NIDDM", "trial." ]

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[ "The", "influence", "of", "interstitial", "collagenase-1", "genotype", "polymorphism", "on", "colorectal", "cancer", "risk", "in", "Iranian", "population." ]

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

[ "Van", "der", "Woude", "syndrome", "(VWS)", "is", "the", "most", "common", "type", "of", "syndromic", "orofacial", "cleft,", "which", "accounts", "for", "approximately", "2%", "of", "all", "cleft", "lip", "and", "palate", "cases.", "It", "is", "characterised", "by", "variable", "association", "of", "lower", "lip", "pits,", "cleft", "lip", "and", "cleft", "palate,", "and", "hypodontia.", "VWS", "arises", "as", "the", "result", "of", "mutations", "in", "the", "gene", "encoding", "interferon", "regulatory", "factor", "6", "(IRF6).", "The", "disorder", "is", "transmitted", "in", "an", "autosomal", "dominant", "manner,", "with", "high", "penetrance", "and", "variable", "expressivity.", "Very", "recently,", "mutations", "of", "the", "IRF6", "gene", "in", "exons", "2-9", "have", "been", "found", "in", "VWS", "patients,", "suggesting", "that", "this", "gene", "plays", "an", "important", "role", "in", "orofacial", "development.", "We", "report", "a", "novel", "mutation", "of", "the", "IRF6", "gene", "in", "a", "German", "family.", "Five", "out", "of", "the", "12", "persons", "affected", "were", "able", "to", "be", "investigated.", "The", "mutation", "produced", "a", "stop", "codon", "within", "exon", "4", "of", "the", "IRF6", "gene.", "All", "5", "patients", "were", "heterozygous", "for", "a", "base", "substitution", "c.201C>A", " ", "changing", "the", "tyrosine", "codon", "at", "amino", "acid", "position", "67", "into", "a", "stop", "codon", "(", "p.Y67X", ")", "in", "exon", "4.", "The", "premature", "stop", "codon", "was", "responsible", "for", "a", "truncated", "protein", "lacking", "parts", "of", "the", "DNA-", "binding", "domain", "and", "the", "complete", "Smad-interferon", "regulatory", "factor-binding", "domain", "probably", "essential", "for", "interactions", "with", "the", "Smad", "transcription", "factors." ]

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[ "BACKGROUND:", "Familial", "Hypercholesterolemia", "is", "a", "common", "autosomal", "dominantly", "inherited", "disease", "that", "is", "most", "frequently", "caused", "by", "mutations", "in", "the", "gene", "encoding", "the", "receptor", "for", "low", "density", "lipoproteins", "(LDLR).", "Deletions", "and", "other", "major", "structural", "rearrangements", "of", "the", "LDLR", "gene", "account", "for", "approximately", "5%", "of", "the", "mutations", "in", "many", "populations.", "METHODS:", "Five", "genomic", "deletions", "in", "the", "LDLR", "gene", "were", "characterized", "by", "amplification", "of", "mutated", "alleles", "and", "sequencing", "to", "identify", "genomic", "breakpoints.", "A", "diagnostic", "assay", "based", "on", "duplex", "PCR", "for", "the", "exon", "7-8", "deletion", "was", "developed", "to", "discriminate", "between", "heterozygotes", "and", "normals,", "and", "bioinformatic", "analyses", "were", "used", "to", "identify", "interspersed", "repeats", "flanking", "the", "deletions.", "RESULTS:", "In", "one", "case", "15", "bp", "had", "been", "inserted", "at", "the", "site", "of", "the", "deleted", "DNA,", "and,", "in", "all", "five", "cases,", "Alu", "elements", "flanked", "the", "sites", "where", "deletions", "had", "occurred.", "An", "assay", "developed", "to", "discriminate", "the", "wildtype", "and", "the", "deletion", "allele", "in", "a", "simple", "duplex", "PCR", "detected", "three", "FH", "patients", "as", "heterozygotes,", "and", "two", "individuals", "with", "normal", "lipid", "values", "were", "detected", "as", "normal", "homozygotes.", "CONCLUSION:", "The", "identification", "of", "the", "breakpoints", "should", "make", "it", "possible", "to", "develop", "specific", "tests", "for", "these", "mutations,", "and", "the", "data", "provide", "further", "evidence", "for", "the", "role", "of", "Alu", "repeats", "in", "intragenic", "deletions." ]

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[ "Depressed", "calcium", "handling", "by", "the", "sarcoplasmic", "reticulum", "(SR)", "Ca-ATPase", "and", "its", "regulator", "phospholamban", "(PLN)", "is", "a", "key", "characteristic", "of", "human", "and", "experimental", "heart", "failure.", "Accumulating", "evidence", "indicates", "that", "increases", "in", "the", "relative", "levels", "of", "PLN", "to", "Ca-ATPase", "in", "failing", "hearts", "and", "resulting", "inhibition", "of", "Ca", "sequestration", "during", "diastole,", "impairs", "contractility.", "Here,", "we", "identified", "a", "genetic", "variant", "in", "the", "PLN", "promoter", "region,", "which", "increases", "its", "expression", "and", "may", "serve", "as", "a", "genetic", "modifier", "in", "dilated", "cardiomyopathy", "(DCM).", "The", "variant", "AF177763.1:", "g.203A>C", " ", "(at", "position", "-36", "bp", "relative", "to", "the", "PLN", "transcriptional", "start", "site)", "was", "found", "only", "in", "the", "heterozygous", "form", "in", "1", "out", "of", "296", "normal", "subjects", "and", "in", "22", "out", "of", "381", "cardiomyopathy", "patients", "(heart", "failure", "at", "age", "of", "18-44", "years,", "ejection", "fraction=22+/-9%).", "In", "vitro", "analysis,", "using", "luciferase", "as", "a", "reporter", "gene", "in", "rat", "neonatal", "cardiomyocytes,", "indicated", "that", "the", "PLN-variant", "increased", "activity", "by", "24%", "compared", "to", "the", "wild", "type.", "Furthermore,", "the", "g.203A>C", " ", "substitution", "altered", "the", "specific", "sequence", "of", "the", "steroid", "receptor", "for", "the", "glucocorticoid", "nuclear", "receptor", "(GR)/transcription", "factor", "in", "the", "PLN", "promoter,", "resulting", "in", "enhanced", "binding", "to", "the", "mutated", "DNA", "site.", "These", "findings", "suggest", "that", "the", "g.203A>C", " ", "genetic", "variant", "in", "the", "human", "PLN", "promoter", "may", "contribute", "to", "depressed", "contractility", "and", "accelerate", "functional", "deterioration", "in", "heart", "failure." ]

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[ "Beta-thalassemia", "in", "association", "with", "a", "new", "delta-chain", "hemoglobin", "variant", "[delta116(g18)", "Arg-->Leu", "]:", "implications", "for", "carrier", "screening", "and", "prenatal", "diagnosis." ]

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0 ]

[ "Frequency", "of", "polymorphisms", "of", "genes", "coding", "for", "HIV-1", "co-receptors", "CCR5", "and", "CCR2", "in", "a", "Brazilian", "population." ]

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

[]

[]

[]

[]

[]

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[ "Allele-specific", "amplification", "in", "cancer", "revealed", "by", "SNP", "array", "analysis." ]

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

[ "Mutations", "in", "the", "human", "ferrochelatase", "gene", "(FECH)", "are", "the", "primary", "cause", "of", "the", "inborn", "disorder", "erythropoietic", "protoporphyria", "(EPP).", "While", "the", "majority", "of", "the", "EPP", "patients", "exhibit", "only", "photosensitivity,", "a", "small", "percentage", "of", "patients", "(approximately", "2%)", "develop", "liver", "complications", "in", "addition", "to", "the", "cutaneous", "symptoms.", "In", "this", "study,", "the", "FECH", "gene", "of", "an", "Israeli", "EPP", "patient", "who", "suffered", "from", "EPP-related", "liver", "complications", "was", "sequenced.", "A", "splicing", "defect", "IVS10+1,", "g-->t", ",", "which", "is", "known", "to", "cause", "the", "deletion", "of", "exon", "10,", "was", "identified", "in", "the", "index", "patient", "as", "well", "as", "in", "his", "symptomatic", "older", "sister", "and", "his", "asymptomatic", "mother.", "Like", "the", "other", "12", "known", "FECH", "mutations", "associated", "with", "liver", "complications,", "IVS10+1,", "g-->t", " ", "is", "a", "\"null-allele\"", "mutation.", "Although", "the", "two", "siblings", "with", "overt", "EPP", "share", "an", "identical", "genotype", "with", "respect", "to", "both", "the", "mutation", "on", "one", "FECH", "allele", "and", "three", "intragenic", "single", "nucleotide", "polymorphisms,", "-251G", ",", "IVS1-23T", ",", "and", "IVS3-48C", " ", "on", "the", "other", "allele,", "the", "sister", "of", "the", "index", "patient", "has", "so", "far", "shown", "no", "signs", "of", "liver", "involvement,", "suggesting", "that", "additional", "factors", "might", "account", "for", "the", "liver", "disease", "in", "EPP." ]

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[ "PURPOSE:", "Human", "pepsinogen", "C", "(PGC)", "is", "an", "aspartic", "protease", "produced", "specifically", "by", "the", "gastric", "mucosa,", "and", "is", "considered", "as", "a", "mature", "marker", "of", "gastric", "epithelium.", "This", "study", "examined", "the", "contributions", "of", "PGC", "polymorphisms", "and", "the", "Helicobacter", "pylori", "(H.", "pylori)", "infection", "to", "the", "risk", "of", "gastric", "cancer", "(GC),", "and", "its", "precancerous", "conditions", "in", "a", "Northeast", "Chinese", "population.", "METHODS:", "The", "PGC", "insertion/deletion", "polymorphism", "was", "evaluated", "by", "polymerase", "chain", "reaction", "analysis,", "followed", "by", "direct", "DNA", "sequencing", "in", "564", "cases", "of", "GC,", "atrophic", "gastritis", "(AG),", "gastric", "ulcer", "(GU)", "and", "superficial", "gastritis", "(as", "control).", "All", "cases", "were", "frequency-matched", "1:1", "by", "gender", "and", "age", "(+/-5).", "H.", "pylori", "infection", "was", "identified", "by", "serum", "anti-H.", "pylori", "IgG", "measurement", "through", "enzyme-linked", "immunosorbent", "assay.", "RESULTS:", "Patients", "with", "a", "homozygous", "PGC", "allele", "1", "genotype", "had", "a", "significant", "risk", "of", "AG", "[adjusted", "odds", "ratio", "(OR)", "3.11;", "95%", "confidence", "interval", "(CI)", "1.44-6.71]", "or", "of", "GC", "(OR", "3.00;", "95%", "CI", "1.38-6.51),", "and", "a", "significantly", "elevated", "risk", "of", "intestinal", "metaplasia", "(OR", "1.90,", "95%", "CI", "1.11-3.27).", "PGC", "polymorphism", "with", "H.", "pylori", "infection", "increased", "risk", "of", "GU", "(OR", "8.69;", "95%", "CI", "1.01-74.69),", "and", "AG", "(OR", "11.12;", "95%", "CI", "1.37-90.84)", "or", "GC", "(OR", "10.61;", "95%", "CI", "1.28-87.79)", "in", "a", "super-multiplicative", "manner.", "The", "S", "value", "was", "5.40,", "6.48", "and", "4.34;", "and", "the", "AP", "value", "was", "72.09,", "7.00", "and", "69.69%,", "respectively.", "CONCLUSIONS:", "The", "PGC", "gene", "polymorphism", "increases", "an", "individual's", "susceptibility", "to", "GC", "and", "its", "precancerous", "conditions.", "Moreover,", "the", "PGC", "gene", "polymorphism", "shows", "a", "positive", "link", "to", "H.", "pylori", "infection", "in", "the", "development", "of", "GC." ]

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[ "Combination", "of", "polymorphisms", "within", "5'", "and", "3'", "untranslated", "regions", "of", "thymidylate", "synthase", "gene", "modulates", "survival", "in", "5", "fluorouracil-treated", "colorectal", "cancer", "patients." ]

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[ "The", "goal", "of", "this", "study", "was", "to", "perform", "5-alpha-reductase", "type", "2", "gene", "(SRD5A2)", "analysis", "in", "a", "male", "pseudohermaphrodite", "(MPH)", "patient", "with", "normal", "testosterone", "(T)", "production", "and", "normal", "androgen", "receptor", "(AR)", "gene", "coding", "sequences.", "A", "patient", "of", "Chinese", "origin", "with", "ambiguous", "genitalia", "at", "14", "months,", "a", "46,XY", "karyotype,", "and", "normal", "T", "secretion", "under", "human", "chorionic", "gonadotropin", "(hCG)", "stimulation", "underwent", "a", "gonadectomy", "at", "20", "months.", "Exons", "1-8", "of", "the", "AR", "gene", "and", "exons", "1-5", "of", "the", "SRD5A2", "gene", "were", "sequenced", "from", "peripheral", "blood", "DNA.", "AR", "gene", "coding", "sequences", "were", "normal.", "SRD5A2", "gene", "analysis", "revealed", "2", "consecutive", "mutations", "in", "exon", "4,", "each", "located", "in", "a", "different", "allele:", "1)", "a", "T", "nucleotide", "deletion,", "which", "predicts", "a", "frameshift", "mutation", "from", "codon", "219,", "and", "2)", "a", "missense", "mutation", "at", "codon", "227,", "where", "the", "substitution", "of", "guanine", "(CGA)", "by", "adenine", "(CAA)", "predicts", "a", "glutamine", "replacement", "of", "arginine", "(", "R227Q", ").", "Testes", "located", "in", "the", "inguinal", "canal", "showed", "a", "normal", "morphology", "for", "age.", "The", "patient", "was", "a", "compound", "heterozygote", "for", "SRD5A2", "mutations,", "carrying", "2", "mutations", "in", "exon", "4.", "The", "patient", "showed", "an", "R227Q", " ", "mutation", "that", "has", "been", "described", "in", "an", "Asian", "population", "and", "MPH", "patients,", "along", "with", "a", "novel", "frameshift", "mutation,", "Tdel219", ".", "Testis", "morphology", "showed", "that,", "during", "early", "infancy,", "the", "5-alpha-reductase", "enzyme", "deficiency", "may", "not", "have", "affected", "interstitial", "or", "tubular", "development." ]

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[ "Polymorphic", "forms", "of", "prostate", "specific", "antigen", "and", "their", "interaction", "with", "androgen", "receptor", "trinucleotide", "repeats", "in", "prostate", "cancer." ]

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[ "Mutations", "in", "the", "NDP", "gene:", "contribution", "to", "Norrie", "disease,", "familial", "exudative", "vitreoretinopathy", "and", "retinopathy", "of", "prematurity." ]

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[ "Multiple", "endocrine", "neoplasia", "type", "1", "(MEN1)", "is", "characterized", "by", "parathyroid,", "enteropancreatic", "endocrine", "and", "pituitary", "adenomas", "as", "well", "as", "germline", "mutation", "of", "the", "MEN1", "gene.", "We", "describe", "2", "families", "with", "MEN1", "with", "novel", "mutations", "in", "the", "MEN1", "gene.", "One", "family", "was", "of", "Turkish", "origin,", "and", "the", "index", "patient", "had", "primary", "hyperparathyroidism", "(PHPT)", "plus", "a", "prolactinoma;", "three", "relatives", "had", "PHPT", "only.", "The", "index", "patient", "in", "the", "second", "family", "was", "a", "46-yr-old", "woman", "of", "Chinese", "origin", "living", "in", "Taiwan.", "This", "patient", "presented", "with", "a", "complaint", "of", "epigastric", "pain", "and", "watery", "diarrhea", "over", "the", "past", "3", "months,", "and", "had", "undergone", "subtotal", "parathyroidectomy", "and", "enucleation", "of", "pancreatic", "islet", "cell", "tumor", "about", "10", "yr", "before.", "There", "was", "also", "a", "prolactinoma.", "Sequence", "analysis", "of", "the", "MEN1", "gene", "from", "leukocyte", "genomic", "DNA", "revealed", "heterozygous", "mutations", "in", "both", "probands.", "The", "Turkish", "patient", "and", "her", "affected", "relatives", "all", "had", "a", "heterozygous", "A", "to", "G", "transition", "at", "codon", "557", "(", "AAG-->GAG", ")", "of", "exon", "10", "of", "MEN1", "that", "results", "in", "a", "replacement", "of", "lysine", "by", "glutamic", "acid.", "The", "Chinese", "index", "patient", "and", "one", "of", "her", "siblings", "had", "a", "heterozygous", "mutation", "at", "codon", "418", "of", "exon", "9", "(", "GAC-->TAT", ")", "that", "results", "in", "a", "substitution", "of", "aspartic", "acid", "by", "tyrosine.", "In", "conclusion,", "we", "have", "identified", "2", "novel", "missense", "mutations", "in", "the", "MEN1", "gene." ]

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[]

[]

[ "Correlation", "between", "thymidylate", "synthase", "gene", "variants,", "RNA", "and", "protein", "levels", "in", "primary", "colorectal", "adenocarcinomas." ]

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

[]

[]

[ "Impact", "of", "5,10-methylenetetrahydrofolate", "reductase", "gene", "polymorphism", "on", "neural", "tube", "defects." ]

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

[ "Novel", "TULP1", "mutation", "causing", "leber", "congenital", "amaurosis", "or", "early", "onset", "retinal", "degeneration." ]

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

[ "Achondroplasia", "is", "the", "most", "common", "form", "of", "dwarfism", "and", "has", "an", "incidence", "of", "approximately", "1/7500.", "In", "more", "than", "98%", "of", "cases,", "the", "disease", "is", "associated", "with", "a", "G", "to", "A", "or", "G", "to", "C", "substitution", "at", "nucleotide", "position", "1138", "(", "p.G380R", ")", "of", "the", "fibroblast", "growth", "factor", "receptor", "3", "(FGFR3)", "gene.", "We", "have", "developed", "a", "sensitive", "single", "tube", "tetra-primer", "PCR", "assay", "to", "detect", "both", "the", "c.1138G>A", " ", "and", "c.1138G>C", " ", "mutations", "and", "can", "successfully", "distinguish", "DNA", "samples", "that", "are", "homozygous", "and", "heterozygous", "for", "the", "c.1138G>A", " ", "mutation.", "Titration", "studies", "showed", "that", "the", "assay", "could", "reliably", "detect", "one", "copy", "of", "the", "mutant", "allele", "in", "a", "mix", "of", "100", "wild-type", "alleles.", "The", "assay", "has", "been", "tested", "in", "50", "healthy", "controls,", "3", "known", "patients", "with", "achondroplasia,", "and", "5", "amniotic", "fluids", "suspected", "of", "having", "achondroplasia", "and", "for", "whom", "we", "had", "previously", "determined", "the", "genotypes", "for", "the", "c.1138G>A", " ", "mutation", "by", "PCR-RFLP.", "We", "have", "observed", "complete", "concordance", "between", "methods.", "Our", "tetra-primer", "PCR", "assay", "is", "sensitive,", "low-cost,", "and", "easy", "to", "use", "method", "for", "FGFR3", "p.G380R", " ", "genotyping,", "which", "could", "be", "used", "even", "in", "\"low-tech\"", "laboratories." ]

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[ "In", "this", "study,", "we", "characterized", "five", "Ullrich", "scleroatonic", "muscular", "dystrophy", "patients", "(two", "Italians,", "one", "Belgian,", "and", "two", "Turks)", "with", "a", "clinical", "phenotype", "showing", "different", "degrees", "of", "severity,", "all", "carrying", "mutations", "localized", "in", "COL6A1.", "We", "sequenced", "the", "three", "entire", "COL6", "complementary", "DNA.", "Three", "of", "five", "patients", "have", "recessive", "mutations:", "two", "patients", "(P1and", "P3)", "have", "homozygous", "single-nucleotide", "deletions,", "one", "in", "exon", "9", "and", "one", "in", "exon", "22;", "one", "patient", "(P2)", "has", "a", "homozygous", "single-nucleotide", "substitution", "leading", "to", "a", "premature", "termination", "codon", "in", "exon", "31.", "The", "nonsense", "mutation", "of", "P2", "also", "causes", "a", "partial", "skipping", "of", "exon", "31", "with", "the", "formation", "of", "a", "premature", "termination", "codon", "in", "exon", "32", "in", "15%", "of", "the", "total", "COL6A1", "messenger", "RNA.", "The", "remaining", "two", "patients", "carry", "a", "heterozygous", "glycine", "substitution", "in", "exons", "9", "and", "10", "inside", "the", "triple-helix", "region;", "both", "are", "dominant", "mutations", "because", "the", "missense", "mutations", "are", "absent", "in", "the", "DNA", "of", "their", "respective", "parents.", "As", "for", "the", "three", "homozygous", "recessive", "mutations,", "the", "apparently", "healthy", "consanguineous", "parents", "all", "carry", "a", "heterozygous", "mutated", "allele.", "Here,", "for", "the", "first", "time,", "we", "report", "a", "genotype-phenotype", "correlation", "demonstrating", "that", "heterozygous", "glycine", "substitutions", "in", "the", "triple-helix", "domain", "of", "COL6A1", "are", "dominant", "and", "responsible", "for", "a", "milder", "Ullrich", "scleroatonic", "muscular", "dystrophy", "phenotype,", "and", "that", "recessive", "mutations", "in", "COL6A1", "correlate", "with", "more", "severe", "clinical", "and", "biochemical", "Ullrich", "scleroatonic", "muscular", "dystrophy", "phenotypes." ]

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[ "There", "is", "much", "interest", "in", "characterizing", "the", "variation", "in", "a", "human", "individual,", "because", "this", "may", "elucidate", "what", "contributes", "significantly", "to", "a", "person's", "phenotype,", "thereby", "enabling", "personalized", "genomics.", "We", "focus", "here", "on", "the", "variants", "in", "a", "person's", "'exome,'", "which", "is", "the", "set", "of", "exons", "in", "a", "genome,", "because", "the", "exome", "is", "believed", "to", "harbor", "much", "of", "the", "functional", "variation.", "We", "provide", "an", "analysis", "of", "the", "approximately", "12,500", "variants", "that", "affect", "the", "protein", "coding", "portion", "of", "an", "individual's", "genome.", "We", "identified", "approximately", "10,400", "nonsynonymous", "single", "nucleotide", "polymorphisms", "(nsSNPs)", "in", "this", "individual,", "of", "which", "approximately", "15-20%", "are", "rare", "in", "the", "human", "population.", "We", "predict", "approximately", "1,500", "nsSNPs", "affect", "protein", "function", "and", "these", "tend", "be", "heterozygous,", "rare,", "or", "novel.", "Of", "the", "approximately", "700", "coding", "indels,", "approximately", "half", "tend", "to", "have", "lengths", "that", "are", "a", "multiple", "of", "three,", "which", "causes", "insertions/deletions", "of", "amino", "acids", "in", "the", "corresponding", "protein,", "rather", "than", "introducing", "frameshifts.", "Coding", "indels", "also", "occur", "frequently", "at", "the", "termini", "of", "genes,", "so", "even", "if", "an", "indel", "causes", "a", "frameshift,", "an", "alternative", "start", "or", "stop", "site", "in", "the", "gene", "can", "still", "be", "used", "to", "make", "a", "functional", "protein.", "In", "summary,", "we", "reduced", "the", "set", "of", "approximately", "12,500", "nonsilent", "coding", "variants", "by", "approximately", "8-fold", "to", "a", "set", "of", "variants", "that", "are", "most", "likely", "to", "have", "major", "effects", "on", "their", "proteins'", "functions.", "This", "is", "our", "first", "glimpse", "of", "an", "individual's", "exome", "and", "a", "snapshot", "of", "the", "current", "state", "of", "personalized", "genomics.", "The", "majority", "of", "coding", "variants", "in", "this", "individual", "are", "common", "and", "appear", "to", "be", "functionally", "neutral.", "Our", "results", "also", "indicate", "that", "some", "variants", "can", "be", "used", "to", "improve", "the", "current", "NCBI", "human", "reference", "genome.", "As", "more", "genomes", "are", "sequenced,", "many", "rare", "variants", "and", "non-SNP", "variants", "will", "be", "discovered.", "We", "present", "an", "approach", "to", "analyze", "the", "coding", "variation", "in", "humans", "by", "proposing", "multiple", "bioinformatic", "methods", "to", "hone", "in", "on", "possible", "functional", "variation." ]

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[ "cAMP", "sensitivity", "of", "HCN", "pacemaker", "channels", "determines", "basal", "heart", "rate", "but", "is", "not", "critical", "for", "autonomic", "rate", "control." ]

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[ "Matrix", "metalloproteinases", "(MMPs)", "are", "proteolytic", "enzymes", "that", "regulate", "various", "cell", "behaviors", "in", "cancer", "biology,", "via", "their", "basic", "function", "of", "degradation", "of", "proteins.", "Genetic", "variations", "in", "several", "MMP", "promoters", "may", "influence", "transcription", "and", "expression", "of", "MMPs.", "The", "aim", "of", "this", "study", "is", "to", "assess", "the", "effects", "of", "the", "two", "single", "nucleotide", "polymorphisms", "(SNPs),", "the", "guanine", "insertion", "polymorphism", "in", "the", "MMP1", "promoter", "and", "the", "adenosine", "insertion", "polymorphism", "in", "the", "MMP3", "promoter,", "on", "risk", "of", "the", "development", "and", "lymphatic", "metastasis", "of", "non-small", "cell", "lung", "carcinoma", "(NSCLC).", "The", "MMP1", "and", "MMP3", "SNPs", "were", "genotyped", "by", "polymerase", "chain", "reaction-restriction", "fragment", "length", "polymorphism", "(PCR-RFLP)", "analysis", "in", "243", "NSCLC", "patients", "and", "350", "control", "subjects", "in", "North", "China.", "The", "overall", "genotype", "and", "allelotype", "distribution", "of", "both", "the", "variants", "in", "cancer", "patients", "and", "controls", "was", "not", "significantly", "different", "(all", "P", "values", "are", "above", "0.05).", "However,", "stratification", "analysis", "showed", "that", "smoking", "individuals", "with", "the", "MMP3", "5A", "allele", "had", "a", ">1.5-fold", "increased", "risk", "to", "develop", "NSCLC,", "compared", "with", "those", "harboring", "the", "6A", "homozygous", "[the", "age", "and", "gender", "adjusted", "odds", "ratio", "(OR)", "=", "1.68,", "95%", "confidence", "interval", "(CI)", "=", "1.04-2.70].", "In", "addition,", "the", "frequency", "of", "the", "MMP3", "5A", "homozygote", "in", "NSCLC", "patients", "with", "lymphatic", "metastasis", "was", "significantly", "higher", "than", "that", "in", "lymph", "node", "negative", "ones", "(5.7", "versus", "0%,", "P", "=", "0.04).", "Moreover,", "the", "MMP", "1G/5A", "haplotype", "significantly", "increased", "the", "risk", "of", "lymphatic", "metastasis", "(OR", "=", "3.36,", "95%", "CI", "=", "1.42-7.94),", "compared", "with", "the", "2G/6A", "haplotype.", "The", "present", "result", "suggested", "that", "the", "MMP3", "promoter", "polymorphism", "may", "modify", "susceptibility", "to", "NSCLC,", "and", "the", "MMP", "1G/5A", "haplotype", "may", "predicate", "the", "risk", "of", "lymphatic", "metastasis", "of", "this", "tumor." ]

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[ "We", "previously", "reported", "association", "of", "FCGR2B-", "Ile232Thr", " ", "with", "systemic", "lupus", "erythematosus", "(SLE)", "in", "three", "Asian", "populations.", "Because", "polymorphism", "of", "CD72,", "another", "inhibitory", "receptor", "of", "B", "cells,", "was", "associated", "with", "murine", "SLE,", "we", "identified", "human", "CD72", "polymorphisms,", "tested", "their", "association", "with", "SLE", "and", "examined", "genetic", "interaction", "with", "FCGR2B", "in", "the", "Japanese", "(160", "SLE,", "277", "controls),", "Thais", "(87", "SLE,", "187", "controls)", "and", "Caucasians", "(94", "families", "containing", "SLE", "members).", "Four", "polymorphisms", "and", "six", "rare", "variations", "were", "detected.", "The", "former", "constituted", "two", "major", "haplotypes", "that", "contained", "one", "or", "two", "repeats", "of", "13", "nucleotides", "in", "intron", "8", "(designated", "as", "*1", "and", "*2,", "respectively).", "Although", "association", "with", "susceptibility", "to", "SLE", "was", "not", "detected,", "the", "*1", "allele", "was", "significantly", "associated", "with", "nephritis", "among", "the", "Japanese", "patients", "(P=0.024).", "RT-PCR", "identified", "a", "novel", "alternatively", "spliced", "(AS)", "transcript", "that", "was", "expressed", "at", "the", "protein", "level", "in", "COS-7", "transfectants.", "The", "ratio", "of", "AS/common", "isoforms", "was", "strikingly", "increased", "in", "individuals", "with", "*2/*2", "genotype", "when", "compared", "with", "*1/*1", "(P=0.000038)", "or", "*1/*2", "(P=0.0085)", "genotypes.", "Using", "the", "two", "Asian", "cohorts,", "significant", "association", "of", "FCGR2B-232Thr/Thr", "with", "SLE", "was", "observed", "only", "in", "the", "presence", "of", "CD72-*1/*1", "genotype", "(OR", "4.63,", "95%", "CI", "1.47-14.6,", "P=0.009", "versus", "FCGR2B-232Ile/Ile", "plus", "CD72-*2/*2).", "Minigene", "assays", "demonstrated", "that", "the", "13-nucleotide", "repeat", "and", "4", "bp", "deletion", "within", "the", "same", "haplotype", "of", "intron", "8", "could", "regulate", "alternative", "splicing.", "The", "AS", "isoform", "lacks", "exon", "8,", "and", "is", "deduced", "to", "contain", "49", "amino", "acid", "changes", "in", "the", "membrane-distal", "portion", "of", "the", "extracellular", "domain,", "where", "considerable", "amino", "acid", "changes", "are", "known", "in", "CD72(c)", "allele", "associated", "with", "murine", "SLE.", "These", "results", "indicated", "that", "the", "presence", "of", "CD72-*2", "allele", "decreases", "risk", "for", "human", "SLE", "conferred", "by", "FCGR2B-232Thr,", "possibly", "by", "increasing", "the", "AS", "isoform", "of", "CD72." ]

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[ "3'", "Mutation", "of", "the", "APC", "gene", "and", "family", "history", "of", "FAP", "in", "a", "patient", "with", "apparently", "sporadic", "desmoid", "tumors." ]

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[ "Rare", "(RVs)", "and", "common", "variants", "of", "the", "RET", "gene", "contribute", "to", "Hirschsprung", "disease", "(HSCR;", "congenital", "aganglionosis).", "While", "RET", "common", "variants", "are", "strongly", "associated", "with", "the", "commonest", "manifestation", "of", "the", "disease", "(males;", "short-segment", "aganglionosis;", "sporadic),", "rare", "coding", "sequence", "(CDS)", "variants", "are", "more", "frequently", "found", "in", "the", "lesser", "common", "and", "more", "severe", "forms", "of", "the", "disease", "(females;", "long/total", "colonic", "aganglionosis;", "familial).Here", "we", "present", "the", "screening", "for", "RVs", "in", "the", "RET", "CDS", "and", "intron/exon", "boundaries", "of", "601", "Chinese", "HSCR", "patients,", "the", "largest", "number", "of", "patients", "ever", "reported.", "We", "identified", "61", "different", "heterozygous", "RVs", "(50", "novel)", "distributed", "among", "100", "patients", "(16.64%).", "Those", "include", "14", "silent,", "29", "missense,", "5", "nonsense,", "4", "frame-shifts,", "and", "one", "in-frame", "amino-acid", "deletion", "in", "the", "CDS,", "two", "splice-site", "deletions,", "4", "nucleotide", "substitutions", "and", "a", "22-bp", "deletion", "in", "the", "intron/exon", "boundaries", "and", "1", "single-nucleotide", "substitution", "in", "the", "5'", "untranslated", "region.", "Exonic", "variants", "were", "mainly", "clustered", "in", "RET", "the", "extracellular", "domain.", "RET", "RVs", "were", "more", "frequent", "among", "patients", "with", "the", "most", "severe", "phenotype", "(24%", "vs.", "15%", "in", "short-HSCR).", "Phasing", "RVs", "with", "the", "RET", "HSCR-associated", "haplotype", "suggests", "that", "RVs", "do", "not", "underlie", "the", "undisputable", "association", "of", "RET", "common", "variants", "with", "HSCR.", "None", "of", "the", "variants", "were", "found", "in", "250", "Chinese", "controls." ]

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[ "Haplotypes", "extending", "across", "ACE", "are", "associated", "with", "Alzheimer's", "disease." ]

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[]

[]

[]

[]

[ "Genome-wide", "analysis", "identifies", "16q", "deletion", "associated", "with", "survival,", "molecular", "subtypes,", "mRNA", "expression,", "and", "germline", "haplotypes", "in", "breast", "cancer", "patients." ]

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[ "Genetics", "of", "Meesmann", "corneal", "dystrophy:", "a", "novel", "mutation", "in", "the", "keratin", "3", "gene", "in", "an", "asymptomatic", "family", "suggests", "genotype-phenotype", "correlation." ]

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

[ "Large", "deletion", "involving", "exon", "5", "of", "the", "arylsulfatase", "B", "gene", "caused", "apparent", "homozygosity", "in", "a", "mucopolysaccharidosis", "type", "VI", "patient." ]

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[ "More", "than", "20", "DNA", "mutations", "with", "different", "inheritance", "pattern", "have", "been", "described", "in", "patients", "with", "Bernard-Soulier", "Syndrome", "(BSS),", "leading", "to", "abnormal", "or", "absent", "synthesis", "and/or", "expression", "of", "GPIbalpha.", "Clinical", "phenotype", "shows", "considerable", "variation", "between", "individuals,", "such", "as", "bleeding,", "platelet", "count", "and", "the", "percentage", "of", "large", "platelets.", "We", "describe", "in", "a", "BSS", "patient", "the", "first", "case", "of", "homozygous", "four", "bases", "deletion", "(TGAG)", "in", "the", "gpIbalpha", "gene", "coding", "sequence,", "leading", "to", "a", "premature", "stop", "codon.", "In", "the", "propositus,", "blood", "smears", "revealed", "giant", "platelets", "(30", "x", "10(9)", "platelets/L),", "and", "platelet", "agglutination", "to", "ristocetin", "was", "absent.", "Propositus'", "parents", "are", "consanguineous.", "His", "father", "and", "paternal", "grandmother", "showed", "a", "mild", "thrombocytopenia", "(108", "x", "10(9)/L", "and", "120", "x", "10(9)/L", "platelets", "respectively)", "while", "mothers", "and", "sister's", "referred", "normal", "platelet", "counts.", "The", "surface", "expression", "of", "GPIbalpha", "was", "practically", "undetectable", "by", "flow-cytometry", "and", "western", "blot", "in", "the", "patient", "and", "was", "reduced", "in", "the", "father.", "Proband's", "DNA", "analysis", "revealed", "a", "homozygous", "four-base-pair", "deletion", "(TGAG),", "starting", "from", "the", "last", "base", "of", "the", "codon", "for", "Ser39,", "leading", "to", "a", "coding", "frame", "shift", "with", "a", "new", "termination", "codon", "after", "11", "novel", "amino", "acids.", "The", "same", "mutation", "was", "seen", "in", "heterozygosis", "in", "both", "parents.", "This", "is", "the", "first", "report", "of", "GPIbalpha", "TGAG", "deletion", "in", "homozygous", "state", "even", "if", "the", "defect", "has", "already", "been", "described", "in", "a", "case", "of", "compound", "heterozygosis.", "Surprisingly,", "the", "propositus", "does", "not", "report", "any", "spontaneous", "bleeding", "tendency." ]

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[ "CONTEXT:", "Patients", "with", "TSH-beta", "subunit", "defects", "and", "congenital", "hypothyroidism", "are", "missed", "by", "TSH-based", "neonatal", "screening.", "OBJECTIVE:", "Our", "objective", "was", "to", "report", "the", "molecular", "consequences", "of", "a", "novel", "splice-junction", "mutation", "and", "a", "novel", "missense", "mutation", "in", "the", "TSH-beta", "subunit", "gene", "found", "in", "two", "patients", "with", "congenital", "central", "hypothyroidism", "and", "conventional", "treatment-resistant", "anemia.", "RESULTS:", "Patient", "1", "had", "a", "homozygous", "G", "to", "A", "nucleotide", "change", "at", "the", "5'", "donor", "splice", "site", "of", "exon/intron", "2.", "This", "resulted", "in", "a", "silent", "change", "at", "codon", "34", "of", "the", "mature", "protein.", "In", "vitro", "splicing", "assays", "showed", "that", "the", "mutant", "minigene", "dramatically", "affected", "pre-mRNA", "processing,", "causing", "exon", "2", "to", "be", "completely", "skipped.", "The", "putative", "product", "from", "a", "new", "out-of-frame", "translational", "start", "point", "in", "exon", "3", "is", "expected", "to", "yield", "a", "nonsense", "25-amino-acid", "peptide.", "In", "patient", "2,", "sequence", "analysis", "revealed", "a", "compound", "heterozygosis", "for", "the", "already", "reported", "313delT", " ", "(", "C105Vfs114X", ")", "mutation", "and", "for", "a", "second", "novel", "mutation", "in", "exon", "3,", "substituting", "G", "for", "A", "at", "cDNA", "nucleotide", "position", "323,", "resulting", "in", "a", "C88Y", " ", "change.", "This", "cysteine", "residue", "is", "conserved", "among", "all", "dimeric", "pituitary", "and", "placental", "glycoprotein", "hormone-beta", "subunits.", "Data", "from", "in", "silico", "analysis", "confirmed", "that", "the", "C88Y", " ", "mutation", "would", "affect", "subunit", "conformation.", "Indeed,", "two", "different", "bioinformatics", "approaches,", "PolyPhen", "and", "SIFT", "analysis,", "predicted", "C88Y", " ", "to", "be", "a", "damaging", "substitution.", "CONCLUSIONS:", "In", "isolated", "TSH", "deficiency,", "the", "exact", "molecular", "diagnosis", "is", "mandatory", "for", "diagnosis", "of", "isolated", "pituitary", "deficiency,", "delineation", "of", "prognosis,", "and", "genetic", "counseling.", "Moreover,", "diagnosis", "of", "central", "hypothyroidism", "should", "be", "considered", "in", "the", "face", "of", "severe", "infant", "anemia", "of", "uncertain", "etiology." ]

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[ "PTCH1", "gene", "mutations", "in", "exon", "17", "and", "loss", "of", "heterozygosity", "on", "D9S180", "microsatellite", "in", "sporadic", "and", "inherited", "human", "basal", "cell", "carcinomas." ]

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[ "Detection", "of", "a-thalassemia-1", "Southeast", "Asian", "and", "Thai", "type", "deletions", "and", "b-thalassemia", "3.5-kb", "deletion", "by", "single-tube", "multiplex", "real-time", "PCR", "with", "SYBR", "Green1", "and", "high-resolution", "melting", "analysis." ]

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[]

[]

[ "BACKGROUND:", "A", "intragenic", "biallelic", "polymorphism", "(", "1359", "G/A", ")", "of", "the", "CB1", "gene", "resulting", "in", "the", "substitution", "of", "the", "G", "to", "A", "at", "nucleotide", "position", "1359", "in", "codon", "435", "(Thr),", "was", "reported", "as", "a", "common", "polymorphism", "in", "Caucasian", "populations.", "Intervention", "studies", "with", "this", "polymorphism", "have", "not", "been", "realized.", "OBJECTIVE:", "We", "decided", "to", "investigate", "the", "role", "of", "the", "polymorphism", "(G1359A)", "of", "CB1", "receptor", "gene", "on", "adipocytokines", "response", "and", "weight", "loss", "secondary", "to", "a", "lifestyle", "modification", "(Mediterranean", "hypocaloric", "diet", "and", "exercise)", "in", "obese", "patients.", "DESIGN:", "A", "population", "of", "94", "patients", "with", "obesity", "was", "analyzed.", "Before", "and", "after", "3", "months", "on", "a", "hypocaloric", "diet,", "an", "anthropometric", "evaluation,", "an", "assessment", "of", "nutritional", "intake", "and", "a", "biochemical", "analysis", "were", "performed.", "The", "statistical", "analysis", "was", "performed", "for", "the", "combined", "G1359A", "and", "A1359A", "as", "a", "group", "and", "wild", "type", "G1359G", "as", "second", "group,", "with", "a", "dominant", "model.", "Results:", "Forty", "seven", "patients", "(50%)", "had", "the", "genotype", "G1359G", "(wild", "type", "group)", "and", "47", "(50%)", "patients", "G1359A", "(41", "patients,", "43.6%)", "or", "A1359A", "(6", "patients,", "6.4%)", "(mutant", "type", "group)", "had", "the", "genotype.", "In", "wild", "and", "mutant", "type", "groups,", "weight,", "body", "mass", "index,", "fat", "mass,", "waist", "circumference", "and", "systolic", "blood", "pressure", "decreased.", "In", "mutant", "type", "group,", "resistin", "(4.15", " ", "1.7", "ng/ml", "vs.", "3.90", " ", "2.1", "ng/ml:", "P", "<", "0.05),", "leptin", "(78.4", " ", "69", "ng/ml", "vs", "66.2", " ", "32", "ng/ml:", "P", "<", "0.05)", "and", "IL-6", "(1.40", " ", "1.9", "pg/ml", "vs", "0.81", " ", "1.5", "pg/ml:", "P", "<", "0.05)", "levels", "decreased", "after", "dietary", "treatment.", "CONCLUSION:", "The", "novel", "finding", "of", "this", "study", "is", "the", "association", "of", "the", "mutant", "allele", "(A1359)", "with", "a", "decrease", "of", "resistin,", "leptin", "and", "interleukin-6", "secondary", "to", "weight", "loss." ]

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[ "OBJECTIVE:", "Mantle", "cell", "lymphoma", "(MCL)", "is", "a", "lymphoma", "characterized", "by", "aberrant", "activation", "of", "CCND1/cyclin", "D1", "followed", "by", "sequential", "genetic", "abnormalities.", "Genomic", "abnormalities", "in", "MCL", "have", "been", "extensively", "examined", "by", "classical", "cytogenetics", "and", "microarray-based", "comparative", "genomic", "hybridization", "techniques,", "pointing", "out", "a", "number", "of", "alterations", "in", "genomic", "regions", "that", "correlate", "with", "the", "neoplastic", "phenotype", "and", "survival.", "Recently,", "single", "nucleotide", "polymorphism", "genomic", "microarrays", "(SNP-chip)", "have", "been", "developed", "and", "used", "for", "analysis", "of", "cancer", "genomics.", "This", "technique", "allows", "detection", "of", "genomic", "changes", "with", "higher", "resolution,", "including", "loss", "of", "heterozygosity", "without", "changes", "of", "gene", "dosage,", "so-called", "acquired", "uniparental", "disomy", "(aUPD).", "MATERIALS", "AND", "METHODS:", "We", "have", "examined", "33", "samples", "of", "MCL", "(28", "primary", "MCL", "and", "5", "cell", "lines)", "using", "the", "250,000", "SNP-chip", "from", "Affymetrix.", "RESULTS:", "Known", "alterations", "were", "confirmed", "by", "SNP", "arrays,", "including", "deletion", "of", "INK4A/ARF,", "duplication/amplification", "of", "MYC,", "deletion", "of", "ATM,", "and", "deletion", "of", "TP53.", "We", "also", "identified", "a", "duplication/amplification", "that", "occurred", "at", "13q", "involving", "oncogenic", "microRNA,", "miR17-92.", "We", "found", "other", "genomic", "abnormalities,", "including", "duplication/amplification", "of", "cyclin", "D1,", "del(1p),", "del(6q),", "dup(3q)", "and", "dup(18q).", "Our", "SNP-chip", "analysis", "detected", "these", "abnormalities", "at", "high", "resolution,", "allowing", "us", "to", "narrow", "the", "size", "of", "the", "commonly", "deleted", "regions,", "including", "1p", "and", "6q.", "Our", "SNP-chip", "analysis", "detected", "a", "number", "of", "aUPD", "sites,", "including", "whole", "chromosome", "9", "aUPD", "and", "9p", "aUPD.", "We", "also", "found", "an", "MCL", "case", "with", "19p,", "leading", "to", "homozygous", "deletion", "of", "TNFSF", "genes.", "CONCLUSION:", "SNP-chip", "analysis", "detected", "in", "MCL", "very", "small", "genomic", "gains/losses,", "as", "well", "as", "aUPDs,", "which", "could", "not", "be", "detected", "by", "more", "conventional", "methods." ]

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[ "Van", "der", "Woude", "Syndrome", "(VWS)", "is", "an", "autosomal", "craniofacial", "disorder", "characterized", "by", "lower", "lip", "pits", "and", "cleft", "lip", "and/or", "palate.", "Mutations", "in", "the", "interferon", "regulatory", "factor", "6", "(IRF6)", "gene", "have", "been", "identified", "in", "patients", "with", "VWS.", "To", "identify", "novel", "IRF6", "mutations", "in", "patients", "affected", "by", "VWS,", "we", "screened", "2", "Brazilian", "families,", "sequencing", "the", "entire", "IRF6-coding", "region", "and", "flanking", "intronic", "boundaries.", "Two", "novel", "heterozygous", "mutations", "were", "identified:", "a", "frame", "shift", "mutation", "with", "deletion", "of", "G", "at", "the", "nucleotide", "position", "520", "in", "the", "exon", "6", "(", "520delG", "),", "and", "a", "missense", "single", "nucleotide", "substitution", "from", "T", "to", "A", "at", "nucleotide", "position", "1135", "in", "exon", "8", "(", "T1135A", ").", "By", "using", "restriction", "enzyme", "analysis,", "we", "were", "able", "to", "demonstrate", "the", "lack", "of", "similar", "mutations", "in", "unrelated", "healthy", "individuals", "and", "non-syndromic", "cleft", "lip", "and", "palate", "patients.", "Our", "results", "further", "confirmed", "that", "haploinsufficiency", "of", "the", "IRF6", "gene", "results", "in", "VWS." ]

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[ "The", "Arg753GLn", " ", "polymorphism", "of", "the", "human", "toll-like", "receptor", "2", "gene", "in", "tuberculosis", "disease." ]

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[ "Mre11", "deficiency", "in", "Arabidopsis", "is", "associated", "with", "chromosomal", "instability", "in", "somatic", "cells", "and", "Spo11-dependent", "genome", "fragmentation", "during", "meiosis." ]

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[ "Chasing", "the", "ubiquitous", "RET", "proto-oncogene", "in", "South", "African", "MEN2", "families--implications", "for", "the", "surgeon." ]

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[ "BACKGROUND", "AND", "AIM:", "The", "focus", "of", "the", "study", "was", "to", "investigate", "the", "frequencies", "of", "homozygous", "deletions", "and", "mutations", "of", "p16", "gene", "in", "gastric", "carcinomas", "in", "the", "Kashmiri", "population.", "METHODS:", "A", "total", "of", "84", "gastric", "carcinoma", "patients", "were", "screened", "by", "the", "single", "strand", "conformation", "polymorphism", "(SSCP)", "technique", "and", "later", "by", "DNA", "sequencing", "to", "detect", "mutations", "of", "the", "p16", "gene.", "Also", "PCR", "was", "applied", "further", "to", "further", "detect", "any", "homozygous", "deletions.", "RESULTS:", "SSCP", "and", "DNA", "sequencing", "performed", "encompassing", "all", "the", "three", "exons", "of", "p16", "gene", "could", "not", "detect", "any", "mutations", "in", "any", "ofl", "84", "cases.", "Though", "we", "could", "observe", "mobility", "shifts", "in", "SSCP", "of", "two", "samples,", "subsequent", "DNA", "sequencing", "did", "not", "show", "any", "mutation.", "Further", "PCR", "could", "not", "detect", "any", "homozygous", "deletion", "in", "P16", "in", "any", "case.", "CONCLUSION:", "Though", "Kashmir", "is", "a", "high", "incidence", "area", "of", "gastric", "carcinomas,", "p16gene", "mutations", "/or", "deletions", "do", "not", "appear", "to", "be", "involved." ]

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[ "Compound", "heterozygous", "mutations", "in", "the", "SRD5A2", "gene", "exon", "4", "in", "a", "male", "pseudohermaphrodite", "patient", "of", "Chinese", "origin." ]

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[ "Genotyping", "of", "five", "chinese", "patients", "with", "17alpha-hydroxylase", "deficiency", "diagnosed", "through", "high-performance", "liquid", "chromatography", "serum", "adrenal", "profile:", "identification", "of", "two", "novel", "CYP17", "mutations." ]

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[ "The", "mutation", "pattern", "of", "mitochondrial", "DNA", "(mtDNA)", "in", "mainland", "Chinese", "patients", "with", "mitochondrial", "myopathy,", "encephalopathy,", "lactic", "acidosis", "and", "stroke-like", "episodes", "(MELAS)", "has", "been", "rarely", "reported,", "though", "previous", "data", "suggested", "that", "the", "mutation", "pattern", "of", "MELAS", "could", "be", "different", "among", "geographically", "localized", "populations.", "We", "presented", "the", "results", "of", "comprehensive", "mtDNA", "mutation", "analysis", "in", "92", "unrelated", "Chinese", "patients", "with", "MELAS", "(85", "with", "classic", "MELAS", "and", "7", "with", "MELAS/Leigh", "syndrome", "(LS)", "overlap", "syndrome).", "The", "mtDNA", "A3243G", " ", "mutation", "was", "the", "most", "common", "causal", "genotype", "in", "this", "patient", "group", "(79/92", "and", "85.9%).", "The", "second", "common", "gene", "mutation", "was", "G13513A", " ", "(7/92", "and", "7.6%).", "Additionally,", "we", "identified", "T10191C", " ", "(", "p.S45P", ")", "in", "ND3,", "A11470C", " ", "(", "p.", "K237N", ")", "in", "ND4,", "T13046C", " ", "(", "p.M237T", ")", "in", "ND5", "and", "a", "large-scale", "deletion", "(13025-13033:14417-14425)", "involving", "partial", "ND5", "and", "ND6", "subunits", "of", "complex", "I", "in", "one", "patient", "each.", "Among", "them,", "A11470C", ",", "T13046C", " ", "and", "the", "single", "deletion", "were", "novel", "mutations.", "In", "summary,", "patients", "with", "mutations", "affecting", "mitochondrially", "encoded", "complex", "I", "(MTND)", "reached", "12.0%", "(11/92)", "in", "this", "group.", "It", "is", "noteworthy", "that", "all", "seven", "patients", "with", "MELAS/LS", "overlap", "syndrome", "were", "associated", "with", "MTND", "mutations.", "Our", "data", "emphasize", "the", "important", "role", "of", "MTND", "mutations", "in", "the", "pathogenicity", "of", "MELAS,", "especially", "MELAS/LS", "overlap", "syndrome." ]

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