Brizape/tmvar_split_0404 · Datasets at Hugging Face

id stringlengths 8 8	tokens list	ner_tags list	texts stringlengths 0 2.64k
18838613	[]	[]
18827003	[ "A", "novel", "point", "mutation", "in", "the", "amino", "terminal", "domain", "of", "the", "human", "glucocorticoid", "receptor", "(hGR)", "gene", "enhancing", "hGR-mediated", "gene", "expression." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	A novel point mutation in the amino terminal domain of the human glucocorticoid receptor (hGR) gene enhancing hGR-mediated gene expression.
18827003	[ "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", ...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 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...	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 tissu...
18827003	[]	[]
18813858	[ "Novel", "mutations", "in", "the", "IRF6", "gene", "in", "Brazilian", "families", "with", "Van", "der", "Woude", "syndrome." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	Novel mutations in the IRF6 gene in Brazilian families with Van der Woude syndrome.
18813858	[ "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", "(IRF...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	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 fam...
18813858	[]	[]
18806880	[ "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 ]	Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation.
18806880	[ "PURPOSE:", "Juvenile", "epithelial", "corneal", "dystrophy", "of", "Meesmann", "(MCD,", "OMIM", "122100)", "is", "a", "dominantly", "inherited", "disorder", "characterized", "by", "fragility", "of", "the", "anterior", "corneal", "epithelium", "and", "intraepithelial"...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	PURPOSE: Juvenile epithelial corneal dystrophy of Meesmann (MCD, OMIM 122100) is a dominantly inherited disorder characterized by fragility of the anterior corneal epithelium and intraepithelial microcyst formation. Although the disease is generally mild and affected individuals are often asymptomatic, some suffer from...
18806880	[]	[]
18779591	[ "Identification", "of", "a", "gain-of-function", "mutation", "of", "the", "prolactin", "receptor", "in", "women", "with", "benign", "breast", "tumors." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	Identification of a gain-of-function mutation of the prolactin receptor in women with benign breast tumors.
18779591	[ "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,", "...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	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. Multi...
18779591	[]	[]
18704161	[ "Genetic", "variation", "in", "an", "individual", "human", "exome." ]	[ 0, 0, 0, 0, 0, 0, 0 ]	Genetic variation in an individual human exome.
18704161	[ "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...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	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 believ...
18704161	[]	[]
18398821	[ "Genome-wide", "analysis", "identifies", "16q", "deletion", "associated", "with", "survival,", "molecular", "subtypes,", "mRNA", "expression,", "and", "germline", "haplotypes", "in", "breast", "cancer", "patients." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	Genome-wide analysis identifies 16q deletion associated with survival, molecular subtypes, mRNA expression, and germline haplotypes in breast cancer patients.
18398821	[ "Breast", "carcinomas", "are", "characterized", "by", "DNA", "copy", "number", "alterations", "(CNAs)", "with", "biological", "and", "clinical", "significance.", "This", "explorative", "study", "integrated", "CNA,", "expression,", "and", "germline", "genotype", "data"...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	Breast carcinomas are characterized by DNA copy number alterations (CNAs) with biological and clinical significance. This explorative study integrated CNA, expression, and germline genotype data of 112 early-stage breast cancer patients. Recurrent CNAs differed substantially between tumor subtypes classified according ...
18398821	[]	[]
18385169	[ "TNFA", "-308G>A", " ", "in", "two", "international", "population-based", "cohorts", "and", "risk", "of", "asthma." ]	[ 0, 1, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	TNFA -308G>A in two international population-based cohorts and risk of asthma.
18385169	[ "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", "as...	[ 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...	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 o...
18385169	[]	[]
18272172	[ "A", "splice", "site", "mutation", "in", "hERG", "leads", "to", "cryptic", "splicing", "in", "human", "long", "QT", "syndrome." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	A splice site mutation in hERG leads to cryptic splicing in human long QT syndrome.
18272172	[ "Mutations", "in", "the", "human", "ether-a-go-go-related", "gene", "(hERG)", "cause", "type", "2", "long", "QT", "syndrome.", "In", "this", "study,", "we", "investigated", "the", "pathogenic", "mechanism", "of", "the", "hERG", "splice", "site", "mutation", "239...	[ 0, 0, 0, 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...	Mutations in the human ether-a-go-go-related gene (hERG) cause type 2 long QT syndrome. In this study, we investigated the pathogenic mechanism of the hERG splice site mutation 2398+1G>C and the genotype-phenotype relationship of mutation carriers in three unrelated kindreds with long QT syndrome. The effect of 2398+...
18272172	[]	[]
18270997	[ "Catechol-O-methyltransferase", "(COMT)", "gene", "variants:", "possible", "association", "of", "the", "Val158Met", " ", "variant", "with", "opiate", "addiction", "in", "Hispanic", "women." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0 ]	Catechol-O-methyltransferase (COMT) gene variants: possible association of the Val158Met variant with opiate addiction in Hispanic women.
18270997	[ "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...	[ 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, 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...	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 sequenc...
18270997	[]	[]
18266724	[ "Histamine-N-methyl", "transferase", "polymorphism", "and", "risk", "for", "migraine." ]	[ 0, 0, 0, 0, 0, 0, 0 ]	Histamine-N-methyl transferase polymorphism and risk for migraine.
18266724	[ "BACKGROUND/OBJECTIVES:", "Histamine", "has", "been", "implicated", "in", "the", "pathogenesis", "of", "migraine.", "In", "the", "CNS,", "histamine", "is", "almost", "exclusively", "metabolized", "by", "the", "polymorphic", "enzyme", "histamine", "N-methyltransferase", ...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 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, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	BACKGROUND/OBJECTIVES: Histamine has been implicated in the pathogenesis of migraine. In the CNS, histamine is almost exclusively metabolized by the polymorphic enzyme histamine N-methyltransferase (HNMT). The HNMT gene (chromosome 2q22.1), shows diverse single nucleotide polymorphisms. One of these, located in exon 4 ...
18266724	[]	[]
18164595	[ "Mutations", "in", "the", "hairless", "gene", "underlie", "APL", "in", "three", "families", "of", "Pakistani", "origin." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	Mutations in the hairless gene underlie APL in three families of Pakistani origin.
18164595	[ "BACKGROUND:", "Atrichia", "with", "papular", "lesions", "(APL)", "(OMIM#209500)", "is", "a", "rare", "autosomal", "recessively", "inherited", "form", "of", "irreversible", "alopecia", "characterized", "by", "papular", "lesions", "of", "keratin-filled", "cysts", "on",...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	BACKGROUND: Atrichia with papular lesions (APL) (OMIM#209500) is a rare autosomal recessively inherited form of irreversible alopecia characterized by papular lesions of keratin-filled cysts on various regions of the body. Males and females are equally affected and present with a distinct pattern of total hair loss on ...
18164595	[]	[]
18046082	[ "Identification", "of", "apolipoprotein", "E", "Guangzhou", "(", "arginine", "150", "proline", "),", "a", "new", "variant", "associated", "with", "lipoprotein", "glomerulopathy." ]	[ 0, 0, 0, 0, 0, 0, 3, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0 ]	Identification of apolipoprotein E Guangzhou ( arginine 150 proline ), a new variant associated with lipoprotein glomerulopathy.
18046082	[ "BACKGROUND/AIMS:", "Lipoprotein", "glomerulopathy", "(LPG)", "is", "a", "rare", "disease", "characterized", "by", "thrombus-like", "substances", "in", "markedly", "dilated", "glomerular", "capillaries", "and", "elevated", "plasma", "levels", "of", "apolipoprotein", "E"...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	BACKGROUND/AIMS: Lipoprotein glomerulopathy (LPG) is a rare disease characterized by thrombus-like substances in markedly dilated glomerular capillaries and elevated plasma levels of apolipoprotein E (apoE). Previous studies have shown that genetic disorders of apoE may contribute to the pathogenesis of LPG, but LPG ma...
18046082	[]	[]
18036257	[ "Single", "nucleotide", "polymorphisms", "in", "bone", "turnover-related", "genes", "in", "Koreans:", "ethnic", "differences", "in", "linkage", "disequilibrium", "and", "haplotype." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	Single nucleotide polymorphisms in bone turnover-related genes in Koreans: ethnic differences in linkage disequilibrium and haplotype.
18036257	[ "BACKGROUND:", "Osteoporosis", "is", "defined", "as", "the", "loss", "of", "bone", "mineral", "density", "that", "leads", "to", "bone", "fragility", "with", "aging.", "Population-based", "case-control", "studies", "have", "identified", "polymorphisms", "in", "many",...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	BACKGROUND: Osteoporosis is defined as the loss of bone mineral density that leads to bone fragility with aging. Population-based case-control studies have identified polymorphisms in many candidate genes that have been associated with bone mass maintenance or osteoporotic fracture. To investigate single nucleotide pol...
18036257	[]	[]
17962469	[ "Novel", "TULP1", "mutation", "causing", "leber", "congenital", "amaurosis", "or", "early", "onset", "retinal", "degeneration." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.
17962469	[ "PURPOSE:", "To", "report", "a", "large,", "consanguineous", "Algerian", "family", "affected", "with", "Leber", "congenital", "amaurosis", "(LCA)", "or", "early-onset", "retinal", "degeneration", "(EORD).", "METHODS:", "All", "accessible", "family", "members", "underw...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	PURPOSE: To report a large, consanguineous Algerian family affected with Leber congenital amaurosis (LCA) or early-onset retinal degeneration (EORD). METHODS: All accessible family members underwent a complete ophthalmic examination, and blood was obtained for DNA extraction. Homozygosity mapping was performed with mar...
17962469	[]	[]
17951029	[ "Focal", "dermal", "hypoplasia", "resulting", "from", "a", "new", "nonsense", "mutation,", "p.E300X", ",", "in", "the", "PORCN", "gene." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0 ]	Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X , in the PORCN gene.
17951029	[ "BACKGROUND:", "Focal", "dermal", "hypoplasia", "(FDH)", "(OMIM", "305600)", "is", "an", "X-linked", "dominant", "disorder", "of", "ecto-mesodermal", "development.", "Also", "known", "as", "Goltz", "syndrome,", "FDH", "presents", "with", "characteristic", "linear", ...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	BACKGROUND: Focal dermal hypoplasia (FDH) (OMIM 305600) is an X-linked dominant disorder of ecto-mesodermal development. Also known as Goltz syndrome, FDH presents with characteristic linear streaks of hypoplastic dermis and variable abnormalities of bone, nails, hair, limbs, teeth and eyes. The molecular basis of FDH ...
17951029	[]	[]
17868390	[ "A", "novel", "DFNA5", "mutation,", "IVS8+4", "A>G", ",", "in", "the", "splice", "donor", "site", "of", "intron", "8", "causes", "late-onset", "non-syndromic", "hearing", "loss", "in", "a", "Chinese", "family." ]	[ 0, 0, 0, 0, 1, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	A novel DFNA5 mutation, IVS8+4 A>G , in the splice donor site of intron 8 causes late-onset non-syndromic hearing loss in a Chinese family.
17868390	[ "We", "report", "here", "the", "clinical,", "genetic,", "and", "molecular", "characteristics", "of", "a", "large", "Chinese", "family", "exhibiting", "non-syndromic,", "late-onset", "autosomal", "dominant", "sensorineural", "hearing", "loss.", "Clinical", "evaluation", ...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	We report here the clinical, genetic, and molecular characteristics of a large Chinese family exhibiting non-syndromic, late-onset autosomal dominant sensorineural hearing loss. Clinical evaluation revealed variable phenotypes of hearing loss in terms of severity and age-at-onset of disease in these subjects. Genome-wi...
17868390	[]	[]
17635946	[ "A", "novel", "point", "mutation", "in", "helix", "11", "of", "the", "ligand-binding", "domain", "of", "the", "human", "glucocorticoid", "receptor", "gene", "causing", "generalized", "glucocorticoid", "resistance." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	A novel point mutation in helix 11 of the ligand-binding domain of the human glucocorticoid receptor gene causing generalized glucocorticoid resistance.
17635946	[ "BACKGROUND:", "Generalized", "glucocorticoid", "resistance", "is", "a", "rare", "condition", "characterized", "by", "partial,", "end-organ", "insensitivity", "to", "glucocorticoids,", "compensatory", "elevations", "in", "adrenocorticotropic", "hormone", "and", "cortisol", ...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	BACKGROUND: Generalized glucocorticoid resistance is a rare condition characterized by partial, end-organ insensitivity to glucocorticoids, compensatory elevations in adrenocorticotropic hormone and cortisol secretion, and increased production of adrenal steroids with androgenic and/or mineralocorticoid activity. We ha...
17635946	[]	[]
17634480	[ "Common", "germline", "genetic", "variation", "in", "antioxidant", "defense", "genes", "and", "survival", "after", "diagnosis", "of", "breast", "cancer." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	Common germline genetic variation in antioxidant defense genes and survival after diagnosis of breast cancer.
17634480	[ "PURPOSE:", "The", "prognosis", "of", "breast", "cancer", "varies", "considerably", "among", "individuals,", "and", "inherited", "genetic", "factors", "may", "help", "explain", "this", "variability.", "Of", "particular", "interest", "are", "genes", "involved", "in",...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	PURPOSE: The prognosis of breast cancer varies considerably among individuals, and inherited genetic factors may help explain this variability. Of particular interest are genes involved in defense against reactive oxygen species (ROS) because ROS are thought to cause DNA damage and contribute to the pathogenesis of can...
17634480	[]	[]
17628794	[ "Manganese", "superoxide", "dismutase", "(Mn-SOD)", "gene", "polymorphisms", "in", "urolithiasis." ]	[ 0, 0, 0, 0, 0, 0, 0, 0 ]	Manganese superoxide dismutase (Mn-SOD) gene polymorphisms in urolithiasis.
17628794	[ "Polymorphism", "in", "manganese", "superoxide", "dismutase", "gene", "(Mn-SOD)", "is", "a", "new", "approach", "to", "identify", "its", "probable", "association", "with", "urolithiasis.", "Oxidative", "stress", "may", "be", "involved", "in", "the", "development", ...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	Polymorphism in manganese superoxide dismutase gene (Mn-SOD) is a new approach to identify its probable association with urolithiasis. Oxidative stress may be involved in the development of stone formation in the renal system. MnSOD is one of the primary enzymes that directly scavenges potential harmful oxidizing speci...
17628794	[]	[]
17615540	[ "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 ]	A novel "pearl box" cataract associated with a mutation in the connexin 46 (GJA3) gene.
17615540	[ "PURPOSE:", "To", "undertake", "mutation", "screening", "in", "the", "connexin", "46", "(GJA3)", "gene", "in", "seven", "congenital", "cataract", "families", "of", "Indian", "origin.", "METHODS:", "Seven", "Indian", "families", "with", "congenital", "cataract", "w...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	PURPOSE: To undertake mutation screening in the connexin 46 (GJA3) gene in seven congenital cataract families of Indian origin. METHODS: Seven Indian families with congenital cataract were analyzed by detailed family history and clinical evaluation. Each family had two to five affected members. Mutation screening was c...
17615540	[]	[]
17595233	[ "Mutations", "in", "pattern", "recognition", "receptor", "genes", "modulate", "seroreactivity", "to", "microbial", "antigens", "in", "patients", "with", "inflammatory", "bowel", "disease." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	Mutations in pattern recognition receptor genes modulate seroreactivity to microbial antigens in patients with inflammatory bowel disease.
17595233	[ "BACKGROUND", "AND", "AIMS:", "A", "number", "of", "antibodies", "against", "microbial", "epitopes", "or", "self-antigens", "have", "been", "associated", "with", "Crohn's", "disease.", "The", "development", "of", "antibodies", "reflects", "a", "loss", "of", "toler...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	BACKGROUND AND AIMS: A number of antibodies against microbial epitopes or self-antigens have been associated with Crohn's disease. The development of antibodies reflects a loss of tolerance to intestinal bacteria that underlies Crohn's disease, resulting in an exaggerated adaptive immune response to these bacteria. It ...
17595233	[]	[]
17495183	[ "Tenomodulin", "is", "associated", "with", "obesity", "and", "diabetes", "risk:", "the", "Finnish", "diabetes", "prevention", "study." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	Tenomodulin is associated with obesity and diabetes risk: the Finnish diabetes prevention study.
17495183	[ "We", "recently", "showed", "that", "long-term", "weight", "reduction", "changes", "the", "gene", "expression", "profile", "of", "adipose", "tissue", "in", "overweight", "individuals", "with", "impaired", "glucose", "tolerance", "(IGT).", "One", "of", "the", "resp...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	We recently showed that long-term weight reduction changes the gene expression profile of adipose tissue in overweight individuals with impaired glucose tolerance (IGT). One of the responding genes was X-chromosomal tenomodulin (TNMD), a putative angiogenesis inhibitor. Our aim was to study the associations of individu...
17495183	[]	[]
17437275	[ "Novel", "mutations", "in", "the", "ZEB1", "gene", "identified", "in", "Czech", "and", "British", "patients", "with", "posterior", "polymorphous", "corneal", "dystrophy." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy.
17437275	[ "We", "describe", "the", "search", "for", "mutations", "in", "six", "unrelated", "Czech", "and", "four", "unrelated", "British", "families", "with", "posterior", "polymorphous", "corneal", "dystrophy", "(PPCD);", "a", "relatively", "rare", "eye", "disorder.", "Cod...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	We describe the search for mutations in six unrelated Czech and four unrelated British families with posterior polymorphous corneal dystrophy (PPCD); a relatively rare eye disorder. Coding exons and intron/exon boundaries of all three genes (VSX1, COL8A2, and ZEB1/TCF8) previously reported to be implicated in the patho...
17437275	[]	[]
17426470	[ "3'", "Mutation", "of", "the", "APC", "gene", "and", "family", "history", "of", "FAP", "in", "a", "patient", "with", "apparently", "sporadic", "desmoid", "tumors." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	3' Mutation of the APC gene and family history of FAP in a patient with apparently sporadic desmoid tumors.
17426470	[ "Desmoid", "tumors", "may", "occur", "sporadically", "or", "as", "part", "of", "the", "extraintestinal", "manifestations", "of", "familial", "adenomatous", "polyposis.", "Different", "phenotypes", "have", "been", "described", "and", "some", "genotype-phenotype", "corr...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	Desmoid tumors may occur sporadically or as part of the extraintestinal manifestations of familial adenomatous polyposis. Different phenotypes have been described and some genotype-phenotype correlations have been raised, associated with different sites of germline mutations in the adenomatous polyposis coli (APC) gene...
17426470	[]	[]
17372760	[ "Atypical", "Rothmund-Thomson", "syndrome", "in", "a", "patient", "with", "compound", "heterozygous", "mutations", "in", "RECQL4", "gene", "and", "phenotypic", "features", "in", "RECQL4", "syndromes." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	Atypical Rothmund-Thomson syndrome in a patient with compound heterozygous mutations in RECQL4 gene and phenotypic features in RECQL4 syndromes.
17372760	[ "We", "describe", "the", "natural", "history", "of", "the", "RTSII", "phenotype", "in", "a", "7-year-old", "boy", "who", "developed", "intrauterine", "and", "postnatal", "growth", "retardation,", "failure", "to", "thrive", "and", "persisting", "diarrhoea.", "The",...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	We describe the natural history of the RTSII phenotype in a 7-year-old boy who developed intrauterine and postnatal growth retardation, failure to thrive and persisting diarrhoea. The growth hormone stimulation test identified an isolated growth hormone deficiency. Since infancy, the patient manifested skin lesions cha...
17372760	[]	[]
17327916	[ "Genome-wide", "analysis", "of", "neuroblastomas", "using", "high-density", "single", "nucleotide", "polymorphism", "arrays." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	Genome-wide analysis of neuroblastomas using high-density single nucleotide polymorphism arrays.
17327916	[ "BACKGROUND:", "Neuroblastomas", "are", "characterized", "by", "chromosomal", "alterations", "with", "biological", "and", "clinical", "significance.", "We", "analyzed", "paired", "blood", "and", "primary", "tumor", "samples", "from", "22", "children", "with", "high-ri...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	BACKGROUND: Neuroblastomas are characterized by chromosomal alterations with biological and clinical significance. We analyzed paired blood and primary tumor samples from 22 children with high-risk neuroblastoma for loss of heterozygosity (LOH) and DNA copy number change using the Affymetrix 10K single nucleotide polym...
17327916	[]	[]
17311329	[ "Epstein", "Barr", "virus", "genotypes", "and", "LMP-1", "variants", "in", "HIV-infected", "patients." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	Epstein Barr virus genotypes and LMP-1 variants in HIV-infected patients.
17311329	[ "Two", "Epstein", "Barr", "virus", "(EBV)", "genotypes:", "EBV-1", "and", "EBV-2", "have", "been", "described.", "A", "30-bp", "deletion", "in", "latent", "membrane", "protein-1", "gene", "(del-LMP-1)", "has", "been", "identified", "in", "various", "pathologies.",...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	Two Epstein Barr virus (EBV) genotypes: EBV-1 and EBV-2 have been described. A 30-bp deletion in latent membrane protein-1 gene (del-LMP-1) has been identified in various pathologies. The aim of this study was to determine EBV genotypes and 30-bp deletion frequency in HIV-infected patients from Argentina. The study was...
17311329	[]	[]
17286451	[ "Retinoblastoma", "in", "India", ":", "microsatellite", "analysis", "and", "its", "application", "in", "genetic", "counseling." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	Retinoblastoma in India : microsatellite analysis and its application in genetic counseling.
17286451	[ "OBJECTIVES:", "This", "study", "was", "conducted", "with", "two", "objectives.", "The", "first", "was", "to", "estimate", "the", "frequency", "of", "loss", "of", "heterozygosity", "(LOH)", "of", "the", "RB1", "gene", "as", "a", "mechanism", "in", "disease", ...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	OBJECTIVES: This study was conducted with two objectives. The first was to estimate the frequency of loss of heterozygosity (LOH) of the RB1 gene as a mechanism in disease causation in tumors of patients from India. The second objective was to employ RB1 molecular deletion and microsatellite-based linkage analysis as l...
17286451	[]	[]
17221831	[ "The", "G51S", " ", "purine", "nucleoside", "phosphorylase", "polymorphism", "is", "associated", "with", "cognitive", "decline", "in", "Alzheimer's", "disease", "patients." ]	[ 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	The G51S purine nucleoside phosphorylase polymorphism is associated with cognitive decline in Alzheimer's disease patients.
17221831	[ "Alzheimer's", "disease", "(AD)", "is", "a", "polygenic", "and", "multifactorial", "complex", "disease,", "whose", "etiopathology", "is", "still", "unclear,", "however", "several", "genetic", "factors", "have", "shown", "to", "increase", "the", "risk", "of", "deve...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	Alzheimer's disease (AD) is a polygenic and multifactorial complex disease, whose etiopathology is still unclear, however several genetic factors have shown to increase the risk of developing the disease. Purine nucleotides and nucleosides play an important role in the brain. Besides their role in neurotransmission and...
17221831	[]	[]
17185385	[ "Two", "sites", "in", "the", "MAPT", "region", "confer", "genetic", "risk", "for", "Guam", "ALS/PDC", "and", "dementia." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	Two sites in the MAPT region confer genetic risk for Guam ALS/PDC and dementia.
17185385	[ "Unusual", "forms", "of", "amyotrophic", "lateral", "sclerosis", "(ALS-G),", "Parkinsonism", "dementia", "complex", "(PDC-G)", "and", "Guam", "dementia", "(GD)", "are", "found", "in", "Chamorros,", "the", "indigenous", "people", "of", "Guam.", "Neurofibrillary", "ta...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	Unusual forms of amyotrophic lateral sclerosis (ALS-G), Parkinsonism dementia complex (PDC-G) and Guam dementia (GD) are found in Chamorros, the indigenous people of Guam. Neurofibrillary tangles composed of hyperphosphorylated tau are a neuropathologic feature of these closely related disorders. To determine if variat...
17185385	[]	[]
17177139	[ "A", "novel", "mutation", "(", "E333D", ")", "in", "the", "thyroid", "hormone", "beta", "receptor", "causing", "resistance", "to", "thyroid", "hormone", "syndrome." ]	[ 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	A novel mutation ( E333D ) in the thyroid hormone beta receptor causing resistance to thyroid hormone syndrome.
17177139	[ "Resistance", "to", "thyroid", "hormone", "(RTH)", "is", "an", "inherited", "syndrome", "characterized", "by", "elevated", "serum", "thyroid", "hormones", "(TH),", "failure", "to", "suppress", "pituitary", "thyroid", "stimulating", "hormone", "(TSH)", "secretion,", ...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0...	Resistance to thyroid hormone (RTH) is an inherited syndrome characterized by elevated serum thyroid hormones (TH), failure to suppress pituitary thyroid stimulating hormone (TSH) secretion, and variable peripheral tissue responsiveness to TH. The disorder is associated with diverse mutations in the thyroid hormone bet...
17177139	[]	[]
17065479	[ "Homozygous", "deletion", "related", "to", "Alu", "repeats", "in", "RLBP1", "causes", "retinitis", "punctata", "albescens." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens.
17065479	[ "PURPOSE:", "Retinitis", "punctata", "albescens", "(RPA)", "is", "an", "infrequently", "occurring", "form", "of", "autosomal", "recessive", "(and", "rarely", "dominant)", "retinal", "dystrophy", "featuring", "early-onset", "severe", "night", "blindness", "and", "tiny,...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	PURPOSE: Retinitis punctata albescens (RPA) is an infrequently occurring form of autosomal recessive (and rarely dominant) retinal dystrophy featuring early-onset severe night blindness and tiny, dotlike, white deposits in the fundus. RPA is associated mostly with mutations in RLBP1 and occasionally in RHO, RDS, and RD...
17065479	[]	[]
17065190	[ "Monocyte", "chemotactic", "protein-1", "single", "nucleotide", "polymorphisms", "do", "not", "confer", "susceptibility", "for", "the", "development", "of", "adult", "onset", "polymyositis/dermatomyositis", "in", "UK", "Caucasians." ]	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 ]	Monocyte chemotactic protein-1 single nucleotide polymorphisms do not confer susceptibility for the development of adult onset polymyositis/dermatomyositis in UK Caucasians.
17065190	[ "OBJECTIVES:", "Polymyositis", "(PM)", "and", "dermatomyositis", "(DM)", "form", "part", "of", "the", "idiopathic", "inflammatory", "myopathies", "(IIMs).", "The", "chemokine", "monocyte", "chemotactic", "protein-1", "(MCP-1)", "is", "expressed", "at", "sites", "of", ...	[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...	OBJECTIVES: Polymyositis (PM) and dermatomyositis (DM) form part of the idiopathic inflammatory myopathies (IIMs). The chemokine monocyte chemotactic protein-1 (MCP-1) is expressed at sites of the T cell inflammatory response in the IIMs. We thus investigate whether genetic markers in the MCP-1 gene confer disease susc...
17065190	[]	[]

18838613

[]

18827003

[ "A", "novel", "point", "mutation", "in", "the", "amino", "terminal", "domain", "of", "the", "human", "glucocorticoid", "receptor", "(hGR)", "gene", "enhancing", "hGR-mediated", "gene", "expression." ]

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

A novel point mutation in the amino terminal domain of the human glucocorticoid receptor (hGR) gene enhancing hGR-mediated gene expression.

18827003

[ "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", ...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 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...

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 tissu...

18827003

[]

18813858

[ "Novel", "mutations", "in", "the", "IRF6", "gene", "in", "Brazilian", "families", "with", "Van", "der", "Woude", "syndrome." ]

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

Novel mutations in the IRF6 gene in Brazilian families with Van der Woude syndrome.

18813858

[ "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", "(IRF...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

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 fam...

18813858

[]

18806880

[ "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 ]

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

18806880

[ "PURPOSE:", "Juvenile", "epithelial", "corneal", "dystrophy", "of", "Meesmann", "(MCD,", "OMIM", "122100)", "is", "a", "dominantly", "inherited", "disorder", "characterized", "by", "fragility", "of", "the", "anterior", "corneal", "epithelium", "and", "intraepithelial"...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

PURPOSE: Juvenile epithelial corneal dystrophy of Meesmann (MCD, OMIM 122100) is a dominantly inherited disorder characterized by fragility of the anterior corneal epithelium and intraepithelial microcyst formation. Although the disease is generally mild and affected individuals are often asymptomatic, some suffer from...

18806880

[]

18779591

[ "Identification", "of", "a", "gain-of-function", "mutation", "of", "the", "prolactin", "receptor", "in", "women", "with", "benign", "breast", "tumors." ]

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

Identification of a gain-of-function mutation of the prolactin receptor in women with benign breast tumors.

18779591

[ "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,", "...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

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. Multi...

18779591

[]

18704161

[ "Genetic", "variation", "in", "an", "individual", "human", "exome." ]

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

Genetic variation in an individual human exome.

18704161

[ "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...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

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 believ...

18704161

[]

18398821

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

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

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

18398821

[ "Breast", "carcinomas", "are", "characterized", "by", "DNA", "copy", "number", "alterations", "(CNAs)", "with", "biological", "and", "clinical", "significance.", "This", "explorative", "study", "integrated", "CNA,", "expression,", "and", "germline", "genotype", "data"...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

Breast carcinomas are characterized by DNA copy number alterations (CNAs) with biological and clinical significance. This explorative study integrated CNA, expression, and germline genotype data of 112 early-stage breast cancer patients. Recurrent CNAs differed substantially between tumor subtypes classified according ...

18398821

[]

18385169

[ "TNFA", "-308G>A", " ", "in", "two", "international", "population-based", "cohorts", "and", "risk", "of", "asthma." ]

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

TNFA -308G>A in two international population-based cohorts and risk of asthma.

18385169

[ "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", "as...

[ 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...

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 o...

18385169

[]

18272172

[ "A", "splice", "site", "mutation", "in", "hERG", "leads", "to", "cryptic", "splicing", "in", "human", "long", "QT", "syndrome." ]

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

A splice site mutation in hERG leads to cryptic splicing in human long QT syndrome.

18272172

[ "Mutations", "in", "the", "human", "ether-a-go-go-related", "gene", "(hERG)", "cause", "type", "2", "long", "QT", "syndrome.", "In", "this", "study,", "we", "investigated", "the", "pathogenic", "mechanism", "of", "the", "hERG", "splice", "site", "mutation", "239...

[ 0, 0, 0, 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...

Mutations in the human ether-a-go-go-related gene (hERG) cause type 2 long QT syndrome. In this study, we investigated the pathogenic mechanism of the hERG splice site mutation 2398+1G>C and the genotype-phenotype relationship of mutation carriers in three unrelated kindreds with long QT syndrome. The effect of 2398+...

18272172

[]

18270997

[ "Catechol-O-methyltransferase", "(COMT)", "gene", "variants:", "possible", "association", "of", "the", "Val158Met", " ", "variant", "with", "opiate", "addiction", "in", "Hispanic", "women." ]

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

Catechol-O-methyltransferase (COMT) gene variants: possible association of the Val158Met variant with opiate addiction in Hispanic women.

18270997

[ "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...

[ 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, 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...

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 sequenc...

18270997

[]

18266724

[ "Histamine-N-methyl", "transferase", "polymorphism", "and", "risk", "for", "migraine." ]

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

Histamine-N-methyl transferase polymorphism and risk for migraine.

18266724

[ "BACKGROUND/OBJECTIVES:", "Histamine", "has", "been", "implicated", "in", "the", "pathogenesis", "of", "migraine.", "In", "the", "CNS,", "histamine", "is", "almost", "exclusively", "metabolized", "by", "the", "polymorphic", "enzyme", "histamine", "N-methyltransferase", ...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 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, 3, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

BACKGROUND/OBJECTIVES: Histamine has been implicated in the pathogenesis of migraine. In the CNS, histamine is almost exclusively metabolized by the polymorphic enzyme histamine N-methyltransferase (HNMT). The HNMT gene (chromosome 2q22.1), shows diverse single nucleotide polymorphisms. One of these, located in exon 4 ...

18266724

[]

18164595

[ "Mutations", "in", "the", "hairless", "gene", "underlie", "APL", "in", "three", "families", "of", "Pakistani", "origin." ]

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

Mutations in the hairless gene underlie APL in three families of Pakistani origin.

18164595

[ "BACKGROUND:", "Atrichia", "with", "papular", "lesions", "(APL)", "(OMIM#209500)", "is", "a", "rare", "autosomal", "recessively", "inherited", "form", "of", "irreversible", "alopecia", "characterized", "by", "papular", "lesions", "of", "keratin-filled", "cysts", "on",...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

BACKGROUND: Atrichia with papular lesions (APL) (OMIM#209500) is a rare autosomal recessively inherited form of irreversible alopecia characterized by papular lesions of keratin-filled cysts on various regions of the body. Males and females are equally affected and present with a distinct pattern of total hair loss on ...

18164595

[]

18046082

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

[ 0, 0, 0, 0, 0, 0, 3, 4, 4, 0, 0, 0, 0, 0, 0, 0, 0 ]

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

18046082

[ "BACKGROUND/AIMS:", "Lipoprotein", "glomerulopathy", "(LPG)", "is", "a", "rare", "disease", "characterized", "by", "thrombus-like", "substances", "in", "markedly", "dilated", "glomerular", "capillaries", "and", "elevated", "plasma", "levels", "of", "apolipoprotein", "E"...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

BACKGROUND/AIMS: Lipoprotein glomerulopathy (LPG) is a rare disease characterized by thrombus-like substances in markedly dilated glomerular capillaries and elevated plasma levels of apolipoprotein E (apoE). Previous studies have shown that genetic disorders of apoE may contribute to the pathogenesis of LPG, but LPG ma...

18046082

[]

18036257

[ "Single", "nucleotide", "polymorphisms", "in", "bone", "turnover-related", "genes", "in", "Koreans:", "ethnic", "differences", "in", "linkage", "disequilibrium", "and", "haplotype." ]

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

Single nucleotide polymorphisms in bone turnover-related genes in Koreans: ethnic differences in linkage disequilibrium and haplotype.

18036257

[ "BACKGROUND:", "Osteoporosis", "is", "defined", "as", "the", "loss", "of", "bone", "mineral", "density", "that", "leads", "to", "bone", "fragility", "with", "aging.", "Population-based", "case-control", "studies", "have", "identified", "polymorphisms", "in", "many",...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

BACKGROUND: Osteoporosis is defined as the loss of bone mineral density that leads to bone fragility with aging. Population-based case-control studies have identified polymorphisms in many candidate genes that have been associated with bone mass maintenance or osteoporotic fracture. To investigate single nucleotide pol...

18036257

[]

17962469

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

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

Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.

17962469

[ "PURPOSE:", "To", "report", "a", "large,", "consanguineous", "Algerian", "family", "affected", "with", "Leber", "congenital", "amaurosis", "(LCA)", "or", "early-onset", "retinal", "degeneration", "(EORD).", "METHODS:", "All", "accessible", "family", "members", "underw...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

PURPOSE: To report a large, consanguineous Algerian family affected with Leber congenital amaurosis (LCA) or early-onset retinal degeneration (EORD). METHODS: All accessible family members underwent a complete ophthalmic examination, and blood was obtained for DNA extraction. Homozygosity mapping was performed with mar...

17962469

[]

17951029

[ "Focal", "dermal", "hypoplasia", "resulting", "from", "a", "new", "nonsense", "mutation,", "p.E300X", ",", "in", "the", "PORCN", "gene." ]

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

Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X , in the PORCN gene.

17951029

[ "BACKGROUND:", "Focal", "dermal", "hypoplasia", "(FDH)", "(OMIM", "305600)", "is", "an", "X-linked", "dominant", "disorder", "of", "ecto-mesodermal", "development.", "Also", "known", "as", "Goltz", "syndrome,", "FDH", "presents", "with", "characteristic", "linear", ...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

BACKGROUND: Focal dermal hypoplasia (FDH) (OMIM 305600) is an X-linked dominant disorder of ecto-mesodermal development. Also known as Goltz syndrome, FDH presents with characteristic linear streaks of hypoplastic dermis and variable abnormalities of bone, nails, hair, limbs, teeth and eyes. The molecular basis of FDH ...

17951029

[]

17868390

[ "A", "novel", "DFNA5", "mutation,", "IVS8+4", "A>G", ",", "in", "the", "splice", "donor", "site", "of", "intron", "8", "causes", "late-onset", "non-syndromic", "hearing", "loss", "in", "a", "Chinese", "family." ]

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

A novel DFNA5 mutation, IVS8+4 A>G , in the splice donor site of intron 8 causes late-onset non-syndromic hearing loss in a Chinese family.

17868390

[ "We", "report", "here", "the", "clinical,", "genetic,", "and", "molecular", "characteristics", "of", "a", "large", "Chinese", "family", "exhibiting", "non-syndromic,", "late-onset", "autosomal", "dominant", "sensorineural", "hearing", "loss.", "Clinical", "evaluation", ...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

We report here the clinical, genetic, and molecular characteristics of a large Chinese family exhibiting non-syndromic, late-onset autosomal dominant sensorineural hearing loss. Clinical evaluation revealed variable phenotypes of hearing loss in terms of severity and age-at-onset of disease in these subjects. Genome-wi...

17868390

[]

17635946

[ "A", "novel", "point", "mutation", "in", "helix", "11", "of", "the", "ligand-binding", "domain", "of", "the", "human", "glucocorticoid", "receptor", "gene", "causing", "generalized", "glucocorticoid", "resistance." ]

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

A novel point mutation in helix 11 of the ligand-binding domain of the human glucocorticoid receptor gene causing generalized glucocorticoid resistance.

17635946

[ "BACKGROUND:", "Generalized", "glucocorticoid", "resistance", "is", "a", "rare", "condition", "characterized", "by", "partial,", "end-organ", "insensitivity", "to", "glucocorticoids,", "compensatory", "elevations", "in", "adrenocorticotropic", "hormone", "and", "cortisol", ...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

BACKGROUND: Generalized glucocorticoid resistance is a rare condition characterized by partial, end-organ insensitivity to glucocorticoids, compensatory elevations in adrenocorticotropic hormone and cortisol secretion, and increased production of adrenal steroids with androgenic and/or mineralocorticoid activity. We ha...

17635946

[]

17634480

[ "Common", "germline", "genetic", "variation", "in", "antioxidant", "defense", "genes", "and", "survival", "after", "diagnosis", "of", "breast", "cancer." ]

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

Common germline genetic variation in antioxidant defense genes and survival after diagnosis of breast cancer.

17634480

[ "PURPOSE:", "The", "prognosis", "of", "breast", "cancer", "varies", "considerably", "among", "individuals,", "and", "inherited", "genetic", "factors", "may", "help", "explain", "this", "variability.", "Of", "particular", "interest", "are", "genes", "involved", "in",...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

PURPOSE: The prognosis of breast cancer varies considerably among individuals, and inherited genetic factors may help explain this variability. Of particular interest are genes involved in defense against reactive oxygen species (ROS) because ROS are thought to cause DNA damage and contribute to the pathogenesis of can...

17634480

[]

17628794

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

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

Manganese superoxide dismutase (Mn-SOD) gene polymorphisms in urolithiasis.

17628794

[ "Polymorphism", "in", "manganese", "superoxide", "dismutase", "gene", "(Mn-SOD)", "is", "a", "new", "approach", "to", "identify", "its", "probable", "association", "with", "urolithiasis.", "Oxidative", "stress", "may", "be", "involved", "in", "the", "development", ...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

Polymorphism in manganese superoxide dismutase gene (Mn-SOD) is a new approach to identify its probable association with urolithiasis. Oxidative stress may be involved in the development of stone formation in the renal system. MnSOD is one of the primary enzymes that directly scavenges potential harmful oxidizing speci...

17628794

[]

17615540

[ "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 ]

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

17615540

[ "PURPOSE:", "To", "undertake", "mutation", "screening", "in", "the", "connexin", "46", "(GJA3)", "gene", "in", "seven", "congenital", "cataract", "families", "of", "Indian", "origin.", "METHODS:", "Seven", "Indian", "families", "with", "congenital", "cataract", "w...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

PURPOSE: To undertake mutation screening in the connexin 46 (GJA3) gene in seven congenital cataract families of Indian origin. METHODS: Seven Indian families with congenital cataract were analyzed by detailed family history and clinical evaluation. Each family had two to five affected members. Mutation screening was c...

17615540

[]

17595233

[ "Mutations", "in", "pattern", "recognition", "receptor", "genes", "modulate", "seroreactivity", "to", "microbial", "antigens", "in", "patients", "with", "inflammatory", "bowel", "disease." ]

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

Mutations in pattern recognition receptor genes modulate seroreactivity to microbial antigens in patients with inflammatory bowel disease.

17595233

[ "BACKGROUND", "AND", "AIMS:", "A", "number", "of", "antibodies", "against", "microbial", "epitopes", "or", "self-antigens", "have", "been", "associated", "with", "Crohn's", "disease.", "The", "development", "of", "antibodies", "reflects", "a", "loss", "of", "toler...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

BACKGROUND AND AIMS: A number of antibodies against microbial epitopes or self-antigens have been associated with Crohn's disease. The development of antibodies reflects a loss of tolerance to intestinal bacteria that underlies Crohn's disease, resulting in an exaggerated adaptive immune response to these bacteria. It ...

17595233

[]

17495183

[ "Tenomodulin", "is", "associated", "with", "obesity", "and", "diabetes", "risk:", "the", "Finnish", "diabetes", "prevention", "study." ]

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

Tenomodulin is associated with obesity and diabetes risk: the Finnish diabetes prevention study.

17495183

[ "We", "recently", "showed", "that", "long-term", "weight", "reduction", "changes", "the", "gene", "expression", "profile", "of", "adipose", "tissue", "in", "overweight", "individuals", "with", "impaired", "glucose", "tolerance", "(IGT).", "One", "of", "the", "resp...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

We recently showed that long-term weight reduction changes the gene expression profile of adipose tissue in overweight individuals with impaired glucose tolerance (IGT). One of the responding genes was X-chromosomal tenomodulin (TNMD), a putative angiogenesis inhibitor. Our aim was to study the associations of individu...

17495183

[]

17437275

[ "Novel", "mutations", "in", "the", "ZEB1", "gene", "identified", "in", "Czech", "and", "British", "patients", "with", "posterior", "polymorphous", "corneal", "dystrophy." ]

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

Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy.

17437275

[ "We", "describe", "the", "search", "for", "mutations", "in", "six", "unrelated", "Czech", "and", "four", "unrelated", "British", "families", "with", "posterior", "polymorphous", "corneal", "dystrophy", "(PPCD);", "a", "relatively", "rare", "eye", "disorder.", "Cod...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

We describe the search for mutations in six unrelated Czech and four unrelated British families with posterior polymorphous corneal dystrophy (PPCD); a relatively rare eye disorder. Coding exons and intron/exon boundaries of all three genes (VSX1, COL8A2, and ZEB1/TCF8) previously reported to be implicated in the patho...

17437275

[]

17426470

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

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

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

17426470

[ "Desmoid", "tumors", "may", "occur", "sporadically", "or", "as", "part", "of", "the", "extraintestinal", "manifestations", "of", "familial", "adenomatous", "polyposis.", "Different", "phenotypes", "have", "been", "described", "and", "some", "genotype-phenotype", "corr...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

Desmoid tumors may occur sporadically or as part of the extraintestinal manifestations of familial adenomatous polyposis. Different phenotypes have been described and some genotype-phenotype correlations have been raised, associated with different sites of germline mutations in the adenomatous polyposis coli (APC) gene...

17426470

[]

17372760

[ "Atypical", "Rothmund-Thomson", "syndrome", "in", "a", "patient", "with", "compound", "heterozygous", "mutations", "in", "RECQL4", "gene", "and", "phenotypic", "features", "in", "RECQL4", "syndromes." ]

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

Atypical Rothmund-Thomson syndrome in a patient with compound heterozygous mutations in RECQL4 gene and phenotypic features in RECQL4 syndromes.

17372760

[ "We", "describe", "the", "natural", "history", "of", "the", "RTSII", "phenotype", "in", "a", "7-year-old", "boy", "who", "developed", "intrauterine", "and", "postnatal", "growth", "retardation,", "failure", "to", "thrive", "and", "persisting", "diarrhoea.", "The",...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

We describe the natural history of the RTSII phenotype in a 7-year-old boy who developed intrauterine and postnatal growth retardation, failure to thrive and persisting diarrhoea. The growth hormone stimulation test identified an isolated growth hormone deficiency. Since infancy, the patient manifested skin lesions cha...

17372760

[]

17327916

[ "Genome-wide", "analysis", "of", "neuroblastomas", "using", "high-density", "single", "nucleotide", "polymorphism", "arrays." ]

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

Genome-wide analysis of neuroblastomas using high-density single nucleotide polymorphism arrays.

17327916

[ "BACKGROUND:", "Neuroblastomas", "are", "characterized", "by", "chromosomal", "alterations", "with", "biological", "and", "clinical", "significance.", "We", "analyzed", "paired", "blood", "and", "primary", "tumor", "samples", "from", "22", "children", "with", "high-ri...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

BACKGROUND: Neuroblastomas are characterized by chromosomal alterations with biological and clinical significance. We analyzed paired blood and primary tumor samples from 22 children with high-risk neuroblastoma for loss of heterozygosity (LOH) and DNA copy number change using the Affymetrix 10K single nucleotide polym...

17327916

[]

17311329

[ "Epstein", "Barr", "virus", "genotypes", "and", "LMP-1", "variants", "in", "HIV-infected", "patients." ]

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

Epstein Barr virus genotypes and LMP-1 variants in HIV-infected patients.

17311329

[ "Two", "Epstein", "Barr", "virus", "(EBV)", "genotypes:", "EBV-1", "and", "EBV-2", "have", "been", "described.", "A", "30-bp", "deletion", "in", "latent", "membrane", "protein-1", "gene", "(del-LMP-1)", "has", "been", "identified", "in", "various", "pathologies.",...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

Two Epstein Barr virus (EBV) genotypes: EBV-1 and EBV-2 have been described. A 30-bp deletion in latent membrane protein-1 gene (del-LMP-1) has been identified in various pathologies. The aim of this study was to determine EBV genotypes and 30-bp deletion frequency in HIV-infected patients from Argentina. The study was...

17311329

[]

17286451

[ "Retinoblastoma", "in", "India", ":", "microsatellite", "analysis", "and", "its", "application", "in", "genetic", "counseling." ]

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

Retinoblastoma in India : microsatellite analysis and its application in genetic counseling.

17286451

[ "OBJECTIVES:", "This", "study", "was", "conducted", "with", "two", "objectives.", "The", "first", "was", "to", "estimate", "the", "frequency", "of", "loss", "of", "heterozygosity", "(LOH)", "of", "the", "RB1", "gene", "as", "a", "mechanism", "in", "disease", ...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

OBJECTIVES: This study was conducted with two objectives. The first was to estimate the frequency of loss of heterozygosity (LOH) of the RB1 gene as a mechanism in disease causation in tumors of patients from India. The second objective was to employ RB1 molecular deletion and microsatellite-based linkage analysis as l...

17286451

[]

17221831

[ "The", "G51S", " ", "purine", "nucleoside", "phosphorylase", "polymorphism", "is", "associated", "with", "cognitive", "decline", "in", "Alzheimer's", "disease", "patients." ]

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

The G51S purine nucleoside phosphorylase polymorphism is associated with cognitive decline in Alzheimer's disease patients.

17221831

[ "Alzheimer's", "disease", "(AD)", "is", "a", "polygenic", "and", "multifactorial", "complex", "disease,", "whose", "etiopathology", "is", "still", "unclear,", "however", "several", "genetic", "factors", "have", "shown", "to", "increase", "the", "risk", "of", "deve...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

Alzheimer's disease (AD) is a polygenic and multifactorial complex disease, whose etiopathology is still unclear, however several genetic factors have shown to increase the risk of developing the disease. Purine nucleotides and nucleosides play an important role in the brain. Besides their role in neurotransmission and...

17221831

[]

17185385

[ "Two", "sites", "in", "the", "MAPT", "region", "confer", "genetic", "risk", "for", "Guam", "ALS/PDC", "and", "dementia." ]

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

Two sites in the MAPT region confer genetic risk for Guam ALS/PDC and dementia.

17185385

[ "Unusual", "forms", "of", "amyotrophic", "lateral", "sclerosis", "(ALS-G),", "Parkinsonism", "dementia", "complex", "(PDC-G)", "and", "Guam", "dementia", "(GD)", "are", "found", "in", "Chamorros,", "the", "indigenous", "people", "of", "Guam.", "Neurofibrillary", "ta...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

Unusual forms of amyotrophic lateral sclerosis (ALS-G), Parkinsonism dementia complex (PDC-G) and Guam dementia (GD) are found in Chamorros, the indigenous people of Guam. Neurofibrillary tangles composed of hyperphosphorylated tau are a neuropathologic feature of these closely related disorders. To determine if variat...

17185385

[]

17177139

[ "A", "novel", "mutation", "(", "E333D", ")", "in", "the", "thyroid", "hormone", "beta", "receptor", "causing", "resistance", "to", "thyroid", "hormone", "syndrome." ]

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

A novel mutation ( E333D ) in the thyroid hormone beta receptor causing resistance to thyroid hormone syndrome.

17177139

[ "Resistance", "to", "thyroid", "hormone", "(RTH)", "is", "an", "inherited", "syndrome", "characterized", "by", "elevated", "serum", "thyroid", "hormones", "(TH),", "failure", "to", "suppress", "pituitary", "thyroid", "stimulating", "hormone", "(TSH)", "secretion,", ...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 3, 0, 0, 0, 0, 0, 0, 0, 0...

Resistance to thyroid hormone (RTH) is an inherited syndrome characterized by elevated serum thyroid hormones (TH), failure to suppress pituitary thyroid stimulating hormone (TSH) secretion, and variable peripheral tissue responsiveness to TH. The disorder is associated with diverse mutations in the thyroid hormone bet...

17177139

[]

17065479

[ "Homozygous", "deletion", "related", "to", "Alu", "repeats", "in", "RLBP1", "causes", "retinitis", "punctata", "albescens." ]

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

Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens.

17065479

[ "PURPOSE:", "Retinitis", "punctata", "albescens", "(RPA)", "is", "an", "infrequently", "occurring", "form", "of", "autosomal", "recessive", "(and", "rarely", "dominant)", "retinal", "dystrophy", "featuring", "early-onset", "severe", "night", "blindness", "and", "tiny,...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

PURPOSE: Retinitis punctata albescens (RPA) is an infrequently occurring form of autosomal recessive (and rarely dominant) retinal dystrophy featuring early-onset severe night blindness and tiny, dotlike, white deposits in the fundus. RPA is associated mostly with mutations in RLBP1 and occasionally in RHO, RDS, and RD...

17065479

[]

17065190

[ "Monocyte", "chemotactic", "protein-1", "single", "nucleotide", "polymorphisms", "do", "not", "confer", "susceptibility", "for", "the", "development", "of", "adult", "onset", "polymyositis/dermatomyositis", "in", "UK", "Caucasians." ]

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

Monocyte chemotactic protein-1 single nucleotide polymorphisms do not confer susceptibility for the development of adult onset polymyositis/dermatomyositis in UK Caucasians.

17065190

[ "OBJECTIVES:", "Polymyositis", "(PM)", "and", "dermatomyositis", "(DM)", "form", "part", "of", "the", "idiopathic", "inflammatory", "myopathies", "(IIMs).", "The", "chemokine", "monocyte", "chemotactic", "protein-1", "(MCP-1)", "is", "expressed", "at", "sites", "of", ...

[ 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0...

OBJECTIVES: Polymyositis (PM) and dermatomyositis (DM) form part of the idiopathic inflammatory myopathies (IIMs). The chemokine monocyte chemotactic protein-1 (MCP-1) is expressed at sites of the T cell inflammatory response in the IIMs. We thus investigate whether genetic markers in the MCP-1 gene confer disease susc...

17065190

[]