SHS/New_BioRED_Model · Datasets at Hugging Face

pmid stringlengths 7 8	passage stringlengths 355 2.87k	tokens sequence	ner_tags sequence
10491763	Hepatocyte nuclear factor-6: associations between genetic variability and type II diabetes and between genetic variability and estimates of insulin secretion. The transcription factor hepatocyte nuclear factor (HNF)-6 is an upstream regulator of several genes involved in the pathogenesis of maturity-onset diabetes of t...	[ "Hepatocyte", "nuclear", "factor-6", ":", "associations", "between", "genetic", "variability", "and", "type", "II", "diabetes", "and", "between", "genetic", "variability", "and", "estimates", "of", "insulin", "secretion", ".", "The", "transcription", "factor", "hepa...	[ "1", "1", "1", "0", "0", "0", "0", "0", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "1", "0", "0", "0", "0", "0", "1", "1", "1", "1", "1", "1", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "...
10788334	Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. We have undertaken a hospital-based study, to identify possible BRCA1 and BRCA2 founder mutations in the Polish population. The study group consisted of 66 Polish families with cancer who have at least three related females affected with...	[ "Founder", "mutations", "in", "the", "BRCA1", "gene", "in", "Polish", "families", "with", "breast-ovarian", "cancer", ".", "We", "have", "undertaken", "a", "hospital-based", "study", ",", "to", "identify", "possible", "BRCA1", "and", "BRCA2", "founder", "mutatio...	[ "0", "0", "0", "0", "1", "0", "0", "0", "0", "0", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "1", "0", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "0", "0", "...
11054569	Rab6c, a new member of the rab gene family, is involved in drug resistance in MCF7/AdrR cells. A new Rab6 homolog cDNA, Rab6c, was discovered by a hypermethylated DNA fragment probe that was isolated from a human multidrug resistant (MDR) breast cancer cell line, MCF7/AdrR, by the methylation sensitive-representational...	[ "Rab6c", ",", "a", "new", "member", "of", "the", "rab", "gene", "family", ",", "is", "involved", "in", "drug", "resistance", "in", "MCF7/AdrR", "cells", ".", "A", "new", "Rab6", "homolog", "cDNA", ",", "Rab6c", ",", "was", "discovered", "by", "a", "hyp...	[ "1", "0", "0", "0", "0", "0", "0", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "6", "0", "0", "0", "0", "1", "0", "0", "0", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "4", "0", "0", "0", "...
1353340	Late-onset metachromatic leukodystrophy: molecular pathology in two siblings. We report on a new allele at the arylsulfatase A (ARSA) locus causing late-onset metachromatic leukodystrophy (MLD). In that allele arginine84, a residue that is highly conserved in the arylsulfatase gene family, is replaced by glutamine. In ...	[ "Late-onset", "metachromatic", "leukodystrophy", ":", "molecular", "pathology", "in", "two", "siblings", ".", "We", "report", "on", "a", "new", "allele", "at", "the", "arylsulfatase", "A", "(", "ARSA", ")", "locus", "causing", "late-onset", "metachromatic", "leu...	[ "0", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "1", "1", "0", "1", "0", "0", "0", "0", "2", "2", "0", "2", "0", "0", "0", "0", "0", "5", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...
15099351	Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia. Proprotein convertase subtilisin/kexin type 9 (PCSK9) is at a locus for autosomal dominant hypercholesterolemia, and recent data indicate that the PCSK9 gene is involved in cholesterol biosynthesis. Mutations within this gen...	[ "Mutations", "in", "the", "PCSK9", "gene", "in", "Norwegian", "subjects", "with", "autosomal", "dominant", "hypercholesterolemia", ".", "Proprotein", "convertase", "subtilisin/kexin", "type", "9", "(", "PCSK9", ")", "is", "at", "a", "locus", "for", "autosomal", ...	[ "0", "0", "0", "1", "0", "0", "0", "0", "0", "2", "2", "2", "0", "1", "1", "1", "1", "1", "0", "1", "0", "0", "0", "0", "0", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "1", "0", "0", "0", "0", "3", "0", "0", "0", "...
16005363	Identification of a novel WFS1 mutation (AFF344-345ins) in Japanese patients with Wolfram syndrome. Wolfram syndrome (WFS) is an autosomal recessive disorder characterized by early onset diabetes mellitus, progressive optic atrophy, sensorineural deafness and diabetes insipidus. Affected individuals may also have renal...	[ "Identification", "of", "a", "novel", "WFS1", "mutation", "(", "AFF344-345ins", ")", "in", "Japanese", "patients", "with", "Wolfram", "syndrome", ".", "Wolfram", "syndrome", "(", "WFS", ")", "is", "an", "autosomal", "recessive", "disorder", "characterized", "by"...	[ "0", "0", "0", "0", "1", "0", "0", "5", "0", "0", "0", "4", "0", "2", "2", "0", "2", "2", "0", "2", "0", "0", "0", "2", "2", "2", "0", "0", "0", "0", "2", "2", "0", "0", "2", "2", "0", "2", "2", "0", "2", "2", "0", "0", "0", "...
16200390	A genetic analysis of serotonergic biosynthetic and metabolic enzymes in migraine using a DNA pooling approach. Migraine is a common debilitating primary headache disorder with significant mental, physical and social health implications. The brain neurotransmitter 5-hydroxytryptamine (5-HT; serotonin) is involved in no...	[ "A", "genetic", "analysis", "of", "serotonergic", "biosynthetic", "and", "metabolic", "enzymes", "in", "migraine", "using", "a", "DNA", "pooling", "approach", ".", "Migraine", "is", "a", "common", "debilitating", "primary", "headache", "disorder", "with", "signifi...	[ "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "0", "0", "0", "0", "0", "0", "2", "0", "0", "0", "0", "0", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "3", "3", "0", "3", "0", "3", "0", "0", "...
16596970	Pilocarpine seizures cause age-dependent impairment in auditory location discrimination. Children who have status epilepticus have continuous or rapidly repeating seizures that may be life-threatening and may cause life-long changes in brain and behavior. The extent to which status epilepticus causes deficits in audito...	[ "Pilocarpine", "seizures", "cause", "age-dependent", "impairment", "in", "auditory", "location", "discrimination", ".", "Children", "who", "have", "status", "epilepticus", "have", "continuous", "or", "rapidly", "repeating", "seizures", "that", "may", "be", "life-threa...	[ "3", "2", "0", "0", "2", "2", "2", "2", "2", "0", "0", "0", "0", "2", "2", "0", "0", "0", "0", "0", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "2", "2", "2", "...
17683901	An improved tetra-primer PCR approach for the detection of the FGFR3 G380R mutation responsible for achondroplasia. 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 pos...	[ "An", "improved", "tetra-primer", "PCR", "approach", "for", "the", "detection", "of", "the", "FGFR3", "G380R", "mutation", "responsible", "for", "achondroplasia", ".", "Achondroplasia", "is", "the", "most", "common", "form", "of", "dwarfism", "and", "has", "an",...	[ "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "1", "5", "0", "0", "0", "2", "0", "2", "0", "0", "0", "0", "0", "0", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...
18166824	Genetic investigation of four meiotic genes in women with premature ovarian failure. OBJECTIVE: The goal of this study was to determine whether mutations of meiotic genes, such as disrupted meiotic cDNA (DMC1), MutS homolog (MSH4), MSH5, and S. cerevisiae homolog (SPO11), were associated with premature ovarian failure ...	[ "Genetic", "investigation", "of", "four", "meiotic", "genes", "in", "women", "with", "premature", "ovarian", "failure", ".", "OBJECTIVE", ":", "The", "goal", "of", "this", "study", "was", "to", "determine", "whether", "mutations", "of", "meiotic", "genes", ","...	[ "0", "0", "0", "0", "0", "0", "0", "4", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "1", "0", "0", "1", "0", "0", "1", "0", "0", "1", "...
18408250	A single nucleotide polymorphism in the IRF5 promoter region is associated with susceptibility to rheumatoid arthritis in the Japanese population. OBJECTIVES: Interferon regulatory factor 5 (IRF5) is a member of the IRF family of transcription factors, which regulate the production of proinflammatory cytokines. Polymor...	[ "A", "single", "nucleotide", "polymorphism", "in", "the", "IRF5", "promoter", "region", "is", "associated", "with", "susceptibility", "to", "rheumatoid", "arthritis", "in", "the", "Japanese", "population", ".", "OBJECTIVES", ":", "Interferon", "regulatory", "factor"...	[ "0", "0", "0", "0", "0", "0", "1", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "0", "0", "0", "0", "0", "0", "1", "1", "1", "1", "0", "1", "0", "0", "0", "0", "0", "0", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...
18439317	Association between promoter -1607 polymorphism of MMP1 and lumbar disc disease in Southern Chinese. BACKGROUND: Matrix metalloproteinases (MMPs) are involved in the degradation of the extracellular matrix of the intervertebral disc. A SNP for guanine insertion/deletion (G/D), the -1607 promoter polymorphism, of the MM...	[ "Association", "between", "promoter", "-1607", "polymorphism", "of", "MMP1", "and", "lumbar", "disc", "disease", "in", "Southern", "Chinese", ".", "BACKGROUND", ":", "Matrix", "metalloproteinases", "(", "MMPs", ")", "are", "involved", "in", "the", "degradation", ...	[ "0", "0", "0", "0", "0", "0", "1", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "1", "1", "0", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "5", "5", "5", "5", "5", "5", "...
18681856	Expanding clinical spectrum of non-autoimmune hyperthyroidism due to an activating germline mutation, p.M453T, in the thyrotropin receptor gene. OBJECTIVE: To describe clinical and genetic features of a Thai family with non-autoimmune hyperthyroidism (NAH) caused by an activating germline mutation in the thyrotropin re...	[ "Expanding", "clinical", "spectrum", "of", "non-autoimmune", "hyperthyroidism", "due", "to", "an", "activating", "germline", "mutation", ",", "p.M453T", ",", "in", "the", "thyrotropin", "receptor", "gene", ".", "OBJECTIVE", ":", "To", "describe", "clinical", "and"...	[ "0", "0", "0", "0", "2", "2", "0", "0", "0", "0", "0", "0", "0", "5", "0", "0", "0", "1", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "2", "0", "0", "0", "0", "0", "0", "0", "...
19728177	Prolonged hypothermia as a bridge to recovery for cerebral edema and intracranial hypertension associated with fulminant hepatic failure. BACKGROUND: To review evidence-based treatment options in patients with cerebral edema complicating fulminant hepatic failure (FHF) and discuss the potential applications of hypother...	[ "Prolonged", "hypothermia", "as", "a", "bridge", "to", "recovery", "for", "cerebral", "edema", "and", "intracranial", "hypertension", "associated", "with", "fulminant", "hepatic", "failure", ".", "BACKGROUND", ":", "To", "review", "evidence-based", "treatment", "opt...	[ "0", "2", "0", "0", "0", "0", "0", "0", "2", "2", "0", "2", "2", "0", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "4", "0", "2", "2", "0", "2", "2", "2", "0", "2", "0", "0", "0", "0", "0", "0", "0", "2", "...
20606392	Atypical GH insensitivity syndrome and severe insulin-like growth factor-I deficiency resulting from compound heterozygous mutations of the GH receptor, including a novel frameshift mutation affecting the intracellular domain. BACKGROUND/AIMS: GH insensitivity and IGF deficiency may result from aberrations of the GH re...	[ "Atypical", "GH", "insensitivity", "syndrome", "and", "severe", "insulin-like", "growth", "factor-I", "deficiency", "resulting", "from", "compound", "heterozygous", "mutations", "of", "the", "GH", "receptor", ",", "including", "a", "novel", "frameshift", "mutation", ...	[ "0", "2", "2", "2", "0", "0", "2", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "1", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "2", "2", "0", "0", "0", "0", "0", "0", "1", "1", "...
20806042	A novel mutation in GJA8 causing congenital cataract-microcornea syndrome in a Chinese pedigree. PURPOSE: To identify the underlying genetic defect in a four-generation family of Chinese origin with autosomal dominant congenital cataract-microcornea syndrome (CCMC). METHODS: All individuals in the study underwent a ful...	[ "A", "novel", "mutation", "in", "GJA8", "causing", "congenital", "cataract-microcornea", "syndrome", "in", "a", "Chinese", "pedigree", ".", "PURPOSE", ":", "To", "identify", "the", "underlying", "genetic", "defect", "in", "a", "four-generation", "family", "of", ...	[ "0", "0", "0", "0", "1", "0", "0", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "2", "0", "0", "0", "0", "0", "0", "0", "0", "...
21163864	The M235T polymorphism of the angiotensinogen gene in South Indian patients of hypertrophic cardiomyopathy. INTRODUCTION: Hypertrophic cardiomyopathy (HCM) is a complex disorder and genetically transmitted cardiac disease with a diverse clinical course. The objective of the present study was to examine the association ...	[ "The", "M235T", "polymorphism", "of", "the", "angiotensinogen", "gene", "in", "South", "Indian", "patients", "of", "hypertrophic", "cardiomyopathy", ".", "INTRODUCTION", ":", "Hypertrophic", "cardiomyopathy", "(", "HCM", ")", "is", "a", "complex", "disorder", "and...	[ "0", "5", "0", "0", "0", "1", "0", "0", "0", "0", "4", "0", "2", "2", "0", "0", "0", "2", "2", "0", "2", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...
21682595	XRCC1 Arg399Gln gene polymorphism and the risk of systemic lupus erythematosus in the Polish population. It has been shown that DNA repair is reduced in patients with systemic lupus erythematosus (SLE) and that the X-ray repair cross-complementing (XRCC1) Arg399Gln (rs25487) polymorphism may contribute to DNA repair. W...	[ "XRCC1", "Arg399Gln", "gene", "polymorphism", "and", "the", "risk", "of", "systemic", "lupus", "erythematosus", "in", "the", "Polish", "population", ".", "It", "has", "been", "shown", "that", "DNA", "repair", "is", "reduced", "in", "patients", "with", "systemi...	[ "1", "5", "0", "0", "0", "0", "0", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "4", "0", "2", "2", "2", "0", "2", "0", "0", "0", "0", "1", "1", "1", "0", "1", "0", "5", "0", "...
24126708	Association of common genetic variants of HOMER1 gene with levodopa adverse effects in Parkinson's disease patients. Levodopa is the most effective symptomatic therapy for Parkinson's disease, but its chronic use could lead to chronic adverse outcomes, such as motor fluctuations, dyskinesia and visual hallucinations. H...	[ "Association", "of", "common", "genetic", "variants", "of", "HOMER1", "gene", "with", "levodopa", "adverse", "effects", "in", "Parkinson", "'s", "disease", "patients", ".", "Levodopa", "is", "the", "most", "effective", "symptomatic", "therapy", "for", "Parkinson",...	[ "0", "0", "0", "0", "0", "0", "1", "0", "0", "3", "0", "0", "0", "2", "2", "2", "4", "0", "3", "0", "0", "0", "0", "0", "0", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...
25983002	Inhibition of LDHA suppresses tumor progression in prostate cancer. A key hallmark of cancer cells is their altered metabolism, known as Warburg effect. Lactate dehydrogenase A (LDHA) executes the final step of aerobic glycolysis and has been reported to be involved in the tumor progression. However, the function of LD...	[ "Inhibition", "of", "LDHA", "suppresses", "tumor", "progression", "in", "prostate", "cancer", ".", "A", "key", "hallmark", "of", "cancer", "cells", "is", "their", "altered", "metabolism", ",", "known", "as", "Warburg", "effect", ".", "Lactate", "dehydrogenase", ...	[ "0", "0", "1", "0", "2", "0", "0", "2", "2", "0", "0", "0", "0", "0", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "1", "1", "1", "0", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...
27640183	Erythropoietin does not activate erythropoietin receptor signaling or lipolytic pathways in human subcutaneous white adipose tissue in vivo. BACKGROUND: Erythropoietin (Epo) exerts direct effects on white adipose tissue (WAT) in mice in addition to its erythropoietic effects, and in humans Epo increases resting energy ...	[ "Erythropoietin", "does", "not", "activate", "erythropoietin", "receptor", "signaling", "or", "lipolytic", "pathways", "in", "human", "subcutaneous", "white", "adipose", "tissue", "in", "vivo", ".", "BACKGROUND", ":", "Erythropoietin", "(", "Epo", ")", "exerts", "...	[ "1", "0", "0", "0", "1", "1", "0", "0", "0", "0", "0", "4", "0", "0", "0", "0", "0", "0", "0", "0", "0", "1", "0", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "4", "0", "0", "0", "0", "0", "0", "0", "0", "...
28411266	Genetic Variation at the Sulfonylurea Receptor, Type 2 Diabetes, and Coronary Heart Disease. Despite widespread clinical use in the treatment of type 2 diabetes, the impact of sulfonylurea therapy on cardiovascular outcomes remains uncertain. Studies of naturally occurring genetic variation can be used to anticipate th...	[ "Genetic", "Variation", "at", "the", "Sulfonylurea", "Receptor", ",", "Type", "2", "Diabetes", ",", "and", "Coronary", "Heart", "Disease", ".", "Despite", "widespread", "clinical", "use", "in", "the", "treatment", "of", "type", "2", "diabetes", ",", "the", "...	[ "0", "0", "0", "0", "1", "1", "0", "2", "2", "2", "0", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "2", "0", "0", "0", "0", "3", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...
7468724	Cardiovascular complications associated with terbutaline treatment for preterm labor. Severe cardiovascular complications occurred in eight of 160 patients treated with terbutaline for preterm labor. Associated corticosteroid therapy and twin gestations appear to be predisposing factors. Potential mechanisms of the pat...	[ "Cardiovascular", "complications", "associated", "with", "terbutaline", "treatment", "for", "preterm", "labor", ".", "Severe", "cardiovascular", "complications", "occurred", "in", "eight", "of", "160", "patients", "treated", "with", "terbutaline", "for", "preterm", "l...	[ "2", "2", "0", "0", "3", "0", "0", "2", "2", "0", "0", "2", "2", "0", "0", "0", "0", "0", "4", "0", "0", "3", "0", "2", "2", "0", "0", "3", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...
7668252	Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients. Two overlapping cDNA clones (1, 991 bp and 736 bp, respectively) encoding the precursor of human mitochondrial very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) were cloned and sequenced....	[ "Cloning", "of", "human", "very-long-chain", "acyl-coenzyme", "A", "dehydrogenase", "and", "molecular", "characterization", "of", "its", "deficiency", "in", "two", "patients", ".", "Two", "overlapping", "cDNA", "clones", "(", "1", ",", "991", "bp", "and", "736",...	[ "0", "0", "4", "1", "1", "1", "1", "0", "0", "0", "0", "0", "0", "0", "0", "4", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "4", "0", "1", "1", "1", "1", "0", "1", "0", "...
8002973	Adrenoleukodystrophy gene encodes an 80 kDa membrane protein. An antibody against the synthetic C-terminal peptides deduced from the cDNA of the gene responsible for X-linked adrenoleukodystrophy (ALD) was produced to characterize the product of the ALD gene. The antibody reacted with the 80 kDa band protein in control...	[ "Adrenoleukodystrophy", "gene", "encodes", "an", "80", "kDa", "membrane", "protein", ".", "An", "antibody", "against", "the", "synthetic", "C-terminal", "peptides", "deduced", "from", "the", "cDNA", "of", "the", "gene", "responsible", "for", "X-linked", "adrenoleu...	[ "1", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "1", "0", "0", "0", "0", "0", "0", "...
8755918	Mutations associated with variant phenotypes in ataxia-telangiectasia. We have identified 14 families with ataxia-telangiectasia (A-T) in which mutation of the ATM gene is associated with a less severe clinical and cellular phenotype (approximately 10% -15% of A-T families identified in the United Kingdom). In 10 of th...	[ "Mutations", "associated", "with", "variant", "phenotypes", "in", "ataxia-telangiectasia", ".", "We", "have", "identified", "14", "families", "with", "ataxia-telangiectasia", "(", "A-T", ")", "in", "which", "mutation", "of", "the", "ATM", "gene", "is", "associated...	[ "0", "0", "0", "0", "0", "0", "2", "0", "0", "0", "0", "0", "0", "0", "2", "0", "2", "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", "2", "0", "0", "...
9746003	Inappropriate use of carbamazepine and vigabatrin in typical absence seizures. Carbamazepine and vigabatrin are contraindicated in typical absence seizures. Of 18 consecutive referrals of children with resistant typical absences only, eight were erroneously treated with carbamazepine either as monotherapy or as an add-...	[ "Inappropriate", "use", "of", "carbamazepine", "and", "vigabatrin", "in", "typical", "absence", "seizures", ".", "Carbamazepine", "and", "vigabatrin", "are", "contraindicated", "in", "typical", "absence", "seizures", ".", "Of", "18", "consecutive", "referrals", "of"...	[ "0", "0", "0", "3", "0", "3", "0", "0", "2", "2", "0", "3", "0", "3", "0", "0", "0", "0", "2", "2", "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", "...
15609295	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. Bernard-Soulier syndrome (BSS) is a rare inherited bleeding disorder due to quantitative or qualitative abnormalities in the platelet glycoprotein (GP) ...	[ "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", ".", "Bernard-Soulier", "syndr...	[ "0", "0", "0", "0", "0", "0", "0", "0", "0", "5", "0", "0", "0", "0", "1", "1", "0", "0", "0", "4", "0", "2", "2", "0", "2", "2", "0", "2", "0", "0", "0", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "1", "...
16288197	Genetic homogeneity for inherited congenital microcoria loci in an Asian Indian pedigree. 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 l...	[ "Genetic", "homogeneity", "for", "inherited", "congenital", "microcoria", "loci", "in", "an", "Asian", "Indian", "pedigree", ".", "PURPOSE", ":", "Congenital", "microcoria", "is", "a", "rare", "autosomal", "dominant", "developmental", "disorder", "of", "the", "iri...	[ "0", "0", "0", "0", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "0", "0", "2", "2", "2", "2", "2", "2", "2", "0", "0", "2", "0", "2", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...
17177139	A novel mutation (E333D) in the thyroid hormone beta receptor causing resistance to thyroid hormone syndrome. 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 periph...	[ "A", "novel", "mutation", "(", "E333D", ")", "in", "the", "thyroid", "hormone", "beta", "receptor", "causing", "resistance", "to", "thyroid", "hormone", "syndrome", ".", "Resistance", "to", "thyroid", "hormone", "(", "RTH", ")", "is", "an", "inherited", "syn...	[ "0", "0", "0", "0", "5", "0", "0", "0", "1", "1", "1", "1", "0", "2", "2", "2", "2", "2", "0", "2", "2", "2", "2", "0", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "3", "3", "0", "3", "0", "0", "0", "0", "0", "0", "1", "...
17634480	Common germline genetic variation in antioxidant defense genes and survival after diagnosis of breast cancer. 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 react...	[ "Common", "germline", "genetic", "variation", "in", "antioxidant", "defense", "genes", "and", "survival", "after", "diagnosis", "of", "breast", "cancer", ".", "PURPOSE", ":", "The", "prognosis", "of", "breast", "cancer", "varies", "considerably", "among", "individ...	[ "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "0", "0", "0", "0", "0", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...
15748645	Photochemoprevention of ultraviolet B signaling and photocarcinogenesis. Exposure to solar radiation, particularly its ultraviolet (UV) B component, has a variety of harmful effects on human health. Some of these effects include sunburn cell formation, basal and squamous cell cancers, melanoma, cataracts, photoaging of...	[ "Photochemoprevention", "of", "ultraviolet", "B", "signaling", "and", "photocarcinogenesis", ".", "Exposure", "to", "solar", "radiation", ",", "particularly", "its", "ultraviolet", "(", "UV", ")", "B", "component", ",", "has", "a", "variety", "of", "harmful", "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", "4", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "2", "2", "...
16543197	A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis. PURPOSE: To identify the genetic basis of recessive inheritance of high hyperopia and Leber congenital amaurosis (LCA) in a family of Middle Eastern origin. MATERIALS AND METHODS: The patients were examined using standard opht...	[ "A", "G1103R", "mutation", "in", "CRB1", "is", "co-inherited", "with", "high", "hyperopia", "and", "Leber", "congenital", "amaurosis", ".", "PURPOSE", ":", "To", "identify", "the", "genetic", "basis", "of", "recessive", "inheritance", "of", "high", "hyperopia", ...	[ "0", "5", "0", "0", "1", "0", "0", "0", "0", "2", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "2", "2", "2", "0", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...
20477932	Cocaine causes memory and learning impairments in rats: involvement of nuclear factor kappa B and oxidative stress, and prevention by topiramate. Different mechanisms have been suggested for cocaine toxicity including an increase in oxidative stress but the association between oxidative status in the brain and cocaine ...	[ "Cocaine", "causes", "memory", "and", "learning", "impairments", "in", "rats", ":", "involvement", "of", "nuclear", "factor", "kappa", "B", "and", "oxidative", "stress", ",", "and", "prevention", "by", "topiramate", ".", "Different", "mechanisms", "have", "been"...	[ "3", "0", "2", "2", "2", "2", "0", "4", "0", "0", "0", "1", "1", "1", "1", "0", "0", "0", "0", "0", "0", "0", "3", "0", "0", "0", "0", "0", "0", "0", "3", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...
28348168	FGFR2 is required for airway basal cell self-renewal and terminal differentiation. Airway stem cells slowly self-renew and produce differentiated progeny to maintain homeostasis throughout the lifespan of an individual. Mutations in the molecular regulators of these processes may drive cancer or degenerative disease, b...	[ "FGFR2", "is", "required", "for", "airway", "basal", "cell", "self-renewal", "and", "terminal", "differentiation", ".", "Airway", "stem", "cells", "slowly", "self-renew", "and", "produce", "differentiated", "progeny", "to", "maintain", "homeostasis", "throughout", "...	[ "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", "2", "0", "2", "2", "...
16418600	Genetic investigation of the TSPYL1 gene in sudden infant death syndrome. BACKGROUND: Sudden infant death syndrome (SIDS) constitutes the most frequent cause of death in the postperinatal period in Germany. Recently, a lethal phenotype characterized by sudden infant death with dysgenesis of the testes syndrome (SIDDT) ...	[ "Genetic", "investigation", "of", "the", "TSPYL1", "gene", "in", "sudden", "infant", "death", "syndrome", ".", "BACKGROUND", ":", "Sudden", "infant", "death", "syndrome", "(", "SIDS", ")", "constitutes", "the", "most", "frequent", "cause", "of", "death", "in",...	[ "0", "0", "0", "0", "1", "0", "0", "2", "2", "2", "2", "0", "0", "0", "2", "2", "2", "2", "0", "2", "0", "0", "0", "0", "0", "0", "0", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "2", "...
16904497	Cauda equina syndrome after epidural steroid injection: a case report. OBJECTIVE: Conventional treatment methods of lumbusacral radiculopathy are physical therapy, epidural steroid injections, oral medications, and spinal manipulative therapy. Cauda equina syndrome is a rare complication of epidural anesthesia. The fol...	[ "Cauda", "equina", "syndrome", "after", "epidural", "steroid", "injection", ":", "a", "case", "report", ".", "OBJECTIVE", ":", "Conventional", "treatment", "methods", "of", "lumbusacral", "radiculopathy", "are", "physical", "therapy", ",", "epidural", "steroid", "...	[ "2", "2", "2", "0", "0", "3", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "0", "0", "0", "0", "0", "3", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "...
17083016	Genetic polymorphism of the binding domain of surfactant protein-A2 increases susceptibility to meningococcal disease. BACKGROUND: Meningococcal disease occurs after colonization of the nasopharynx with Neisseria meningitidis. Surfactant protein (SP)-A and SP-D are pattern-recognition molecules of the respiratory tract...	[ "Genetic", "polymorphism", "of", "the", "binding", "domain", "of", "surfactant", "protein-A2", "increases", "susceptibility", "to", "meningococcal", "disease", ".", "BACKGROUND", ":", "Meningococcal", "disease", "occurs", "after", "colonization", "of", "the", "nasopha...	[ "0", "0", "0", "0", "0", "0", "0", "1", "1", "0", "0", "0", "2", "2", "0", "0", "0", "2", "2", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "1", "1", "1", "1", "1", "1", "0", "1", "0", "0", "0", "0", "0", "0", "0", "0", "...
17910065	A novel missense mutation in the paired domain of human PAX9 causes oligodontia. PAX9 and MSX1 are transcription factors that play essential roles in craniofacial and limb development. In humans, mutations in both genes are associated with nonsyndromic and syndromic oligodontia, respectively. We screened one family wit...	[ "A", "novel", "missense", "mutation", "in", "the", "paired", "domain", "of", "human", "PAX9", "causes", "oligodontia", ".", "PAX9", "and", "MSX1", "are", "transcription", "factors", "that", "play", "essential", "roles", "in", "craniofacial", "and", "limb", "de...	[ "0", "0", "0", "0", "0", "0", "0", "0", "0", "4", "1", "0", "2", "0", "1", "0", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "4", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "2", "2", "0", "...
20846357	A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome. BACKGROUND: Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital ectodermal disorder, caused by heterozygous missense mutation in GJB2, encoding the gap juncti...	[ "A", "novel", "mutation", "in", "the", "connexin", "26", "gene", "(", "GJB2", ")", "in", "a", "child", "with", "clinical", "and", "histological", "features", "of", "keratitis-ichthyosis-deafness", "(", "KID", ")", "syndrome", ".", "BACKGROUND", ":", "Keratitis...	[ "0", "0", "0", "0", "0", "1", "1", "0", "0", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "2", "2", "2", "0", "0", "0", "2", "2", "2", "2", "2", "0", "0", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "...
26115410	Mechanisms Underlying Latent Disease Risk Associated with Early-Life Arsenic Exposure: Current Research Trends and Scientific Gaps. BACKGROUND: Millions of individuals worldwide, particularly those living in rural and developing areas, are exposed to harmful levels of inorganic arsenic (iAs) in their drinking water. In...	[ "Mechanisms", "Underlying", "Latent", "Disease", "Risk", "Associated", "with", "Early-Life", "Arsenic", "Exposure", ":", "Current", "Research", "Trends", "and", "Scientific", "Gaps", ".", "BACKGROUND", ":", "Millions", "of", "individuals", "worldwide", ",", "particu...	[ "0", "0", "0", "0", "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", "3", "3", "0", "3", "0", "...
15807692	Identification of novel type VII collagen gene mutations resulting in severe recessive dystrophic epidermolysis bullosa. In this work, we studied the proband in a small nuclear family of Chinese and Dutch/German descent and identified two novel mutations in the type VII collagen gene leading to recessive dystrophic epi...	[ "Identification", "of", "novel", "type", "VII", "collagen", "gene", "mutations", "resulting", "in", "severe", "recessive", "dystrophic", "epidermolysis", "bullosa", ".", "In", "this", "work", ",", "we", "studied", "the", "proband", "in", "a", "small", "nuclear",...	[ "0", "0", "0", "0", "1", "1", "0", "0", "0", "0", "0", "2", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "1", "1", "0", "...
16157158	A Cys 23-Ser 23 substitution in the 5-HT(2C) receptor gene influences body weight regulation in females with seasonal affective disorder: an Austrian-Canadian collaborative study. Most females with seasonal affective disorder (SAD) exhibit atypical vegetative symptoms such as overeating, and weight gain when depressed....	[ "A", "Cys", "23-Ser", "23", "substitution", "in", "the", "5-HT", "(", "2C", ")", "receptor", "gene", "influences", "body", "weight", "regulation", "in", "females", "with", "seasonal", "affective", "disorder", ":", "an", "Austrian-Canadian", "collaborative", "stu...	[ "0", "5", "5", "5", "0", "0", "0", "1", "1", "1", "1", "1", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "2", "0", "2", "0", "0", "0", "0", "0", "0", "0", "0", "...
17192049	Cytochrome p4501A1 gene variants as susceptibility marker for prostate cancer. CYP1A1 activates environmental procarcinogens and catalyzes oxidative metabolism of estrogens and is likely to play an important role in the etiology of prostate cancer. To evaluate this phenomenon, the association between two single nucleot...	[ "Cytochrome", "p4501A1", "gene", "variants", "as", "susceptibility", "marker", "for", "prostate", "cancer", ".", "CYP1A1", "activates", "environmental", "procarcinogens", "and", "catalyzes", "oxidative", "metabolism", "of", "estrogens", "and", "is", "likely", "to", ...	[ "1", "1", "0", "0", "0", "0", "0", "0", "2", "2", "0", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...

10491763

Hepatocyte nuclear factor-6: associations between genetic variability and type II diabetes and between genetic variability and estimates of insulin secretion. The transcription factor hepatocyte nuclear factor (HNF)-6 is an upstream regulator of several genes involved in the pathogenesis of maturity-onset diabetes of t...

[ "Hepatocyte", "nuclear", "factor-6", ":", "associations", "between", "genetic", "variability", "and", "type", "II", "diabetes", "and", "between", "genetic", "variability", "and", "estimates", "of", "insulin", "secretion", ".", "The", "transcription", "factor", "hepa...

[ "1", "1", "1", "0", "0", "0", "0", "0", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "1", "0", "0", "0", "0", "0", "1", "1", "1", "1", "1", "1", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "...

10788334

Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. We have undertaken a hospital-based study, to identify possible BRCA1 and BRCA2 founder mutations in the Polish population. The study group consisted of 66 Polish families with cancer who have at least three related females affected with...

[ "Founder", "mutations", "in", "the", "BRCA1", "gene", "in", "Polish", "families", "with", "breast-ovarian", "cancer", ".", "We", "have", "undertaken", "a", "hospital-based", "study", ",", "to", "identify", "possible", "BRCA1", "and", "BRCA2", "founder", "mutatio...

[ "0", "0", "0", "0", "1", "0", "0", "0", "0", "0", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "1", "0", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "0", "0", "...

11054569

Rab6c, a new member of the rab gene family, is involved in drug resistance in MCF7/AdrR cells. A new Rab6 homolog cDNA, Rab6c, was discovered by a hypermethylated DNA fragment probe that was isolated from a human multidrug resistant (MDR) breast cancer cell line, MCF7/AdrR, by the methylation sensitive-representational...

[ "Rab6c", ",", "a", "new", "member", "of", "the", "rab", "gene", "family", ",", "is", "involved", "in", "drug", "resistance", "in", "MCF7/AdrR", "cells", ".", "A", "new", "Rab6", "homolog", "cDNA", ",", "Rab6c", ",", "was", "discovered", "by", "a", "hyp...

[ "1", "0", "0", "0", "0", "0", "0", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "6", "0", "0", "0", "0", "1", "0", "0", "0", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "4", "0", "0", "0", "...

1353340

Late-onset metachromatic leukodystrophy: molecular pathology in two siblings. We report on a new allele at the arylsulfatase A (ARSA) locus causing late-onset metachromatic leukodystrophy (MLD). In that allele arginine84, a residue that is highly conserved in the arylsulfatase gene family, is replaced by glutamine. In ...

[ "Late-onset", "metachromatic", "leukodystrophy", ":", "molecular", "pathology", "in", "two", "siblings", ".", "We", "report", "on", "a", "new", "allele", "at", "the", "arylsulfatase", "A", "(", "ARSA", ")", "locus", "causing", "late-onset", "metachromatic", "leu...

[ "0", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "1", "1", "0", "1", "0", "0", "0", "0", "2", "2", "0", "2", "0", "0", "0", "0", "0", "5", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...

15099351

Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia. Proprotein convertase subtilisin/kexin type 9 (PCSK9) is at a locus for autosomal dominant hypercholesterolemia, and recent data indicate that the PCSK9 gene is involved in cholesterol biosynthesis. Mutations within this gen...

[ "Mutations", "in", "the", "PCSK9", "gene", "in", "Norwegian", "subjects", "with", "autosomal", "dominant", "hypercholesterolemia", ".", "Proprotein", "convertase", "subtilisin/kexin", "type", "9", "(", "PCSK9", ")", "is", "at", "a", "locus", "for", "autosomal", ...

[ "0", "0", "0", "1", "0", "0", "0", "0", "0", "2", "2", "2", "0", "1", "1", "1", "1", "1", "0", "1", "0", "0", "0", "0", "0", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "1", "0", "0", "0", "0", "3", "0", "0", "0", "...

16005363

Identification of a novel WFS1 mutation (AFF344-345ins) in Japanese patients with Wolfram syndrome. Wolfram syndrome (WFS) is an autosomal recessive disorder characterized by early onset diabetes mellitus, progressive optic atrophy, sensorineural deafness and diabetes insipidus. Affected individuals may also have renal...

[ "Identification", "of", "a", "novel", "WFS1", "mutation", "(", "AFF344-345ins", ")", "in", "Japanese", "patients", "with", "Wolfram", "syndrome", ".", "Wolfram", "syndrome", "(", "WFS", ")", "is", "an", "autosomal", "recessive", "disorder", "characterized", "by"...

[ "0", "0", "0", "0", "1", "0", "0", "5", "0", "0", "0", "4", "0", "2", "2", "0", "2", "2", "0", "2", "0", "0", "0", "2", "2", "2", "0", "0", "0", "0", "2", "2", "0", "0", "2", "2", "0", "2", "2", "0", "2", "2", "0", "0", "0", "...

16200390

A genetic analysis of serotonergic biosynthetic and metabolic enzymes in migraine using a DNA pooling approach. Migraine is a common debilitating primary headache disorder with significant mental, physical and social health implications. The brain neurotransmitter 5-hydroxytryptamine (5-HT; serotonin) is involved in no...

[ "A", "genetic", "analysis", "of", "serotonergic", "biosynthetic", "and", "metabolic", "enzymes", "in", "migraine", "using", "a", "DNA", "pooling", "approach", ".", "Migraine", "is", "a", "common", "debilitating", "primary", "headache", "disorder", "with", "signifi...

[ "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "0", "0", "0", "0", "0", "0", "2", "0", "0", "0", "0", "0", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "3", "3", "0", "3", "0", "3", "0", "0", "...

16596970

Pilocarpine seizures cause age-dependent impairment in auditory location discrimination. Children who have status epilepticus have continuous or rapidly repeating seizures that may be life-threatening and may cause life-long changes in brain and behavior. The extent to which status epilepticus causes deficits in audito...

[ "Pilocarpine", "seizures", "cause", "age-dependent", "impairment", "in", "auditory", "location", "discrimination", ".", "Children", "who", "have", "status", "epilepticus", "have", "continuous", "or", "rapidly", "repeating", "seizures", "that", "may", "be", "life-threa...

[ "3", "2", "0", "0", "2", "2", "2", "2", "2", "0", "0", "0", "0", "2", "2", "0", "0", "0", "0", "0", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "2", "2", "2", "...

17683901

An improved tetra-primer PCR approach for the detection of the FGFR3 G380R mutation responsible for achondroplasia. 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 pos...

[ "An", "improved", "tetra-primer", "PCR", "approach", "for", "the", "detection", "of", "the", "FGFR3", "G380R", "mutation", "responsible", "for", "achondroplasia", ".", "Achondroplasia", "is", "the", "most", "common", "form", "of", "dwarfism", "and", "has", "an",...

[ "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "1", "5", "0", "0", "0", "2", "0", "2", "0", "0", "0", "0", "0", "0", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...

18166824

Genetic investigation of four meiotic genes in women with premature ovarian failure. OBJECTIVE: The goal of this study was to determine whether mutations of meiotic genes, such as disrupted meiotic cDNA (DMC1), MutS homolog (MSH4), MSH5, and S. cerevisiae homolog (SPO11), were associated with premature ovarian failure ...

[ "Genetic", "investigation", "of", "four", "meiotic", "genes", "in", "women", "with", "premature", "ovarian", "failure", ".", "OBJECTIVE", ":", "The", "goal", "of", "this", "study", "was", "to", "determine", "whether", "mutations", "of", "meiotic", "genes", ","...

[ "0", "0", "0", "0", "0", "0", "0", "4", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "1", "0", "0", "1", "0", "0", "1", "0", "0", "1", "...

18408250

A single nucleotide polymorphism in the IRF5 promoter region is associated with susceptibility to rheumatoid arthritis in the Japanese population. OBJECTIVES: Interferon regulatory factor 5 (IRF5) is a member of the IRF family of transcription factors, which regulate the production of proinflammatory cytokines. Polymor...

[ "A", "single", "nucleotide", "polymorphism", "in", "the", "IRF5", "promoter", "region", "is", "associated", "with", "susceptibility", "to", "rheumatoid", "arthritis", "in", "the", "Japanese", "population", ".", "OBJECTIVES", ":", "Interferon", "regulatory", "factor"...

[ "0", "0", "0", "0", "0", "0", "1", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "0", "0", "0", "0", "0", "0", "1", "1", "1", "1", "0", "1", "0", "0", "0", "0", "0", "0", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...

18439317

Association between promoter -1607 polymorphism of MMP1 and lumbar disc disease in Southern Chinese. BACKGROUND: Matrix metalloproteinases (MMPs) are involved in the degradation of the extracellular matrix of the intervertebral disc. A SNP for guanine insertion/deletion (G/D), the -1607 promoter polymorphism, of the MM...

[ "Association", "between", "promoter", "-1607", "polymorphism", "of", "MMP1", "and", "lumbar", "disc", "disease", "in", "Southern", "Chinese", ".", "BACKGROUND", ":", "Matrix", "metalloproteinases", "(", "MMPs", ")", "are", "involved", "in", "the", "degradation", ...

[ "0", "0", "0", "0", "0", "0", "1", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "1", "1", "0", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "5", "5", "5", "5", "5", "5", "...

18681856

Expanding clinical spectrum of non-autoimmune hyperthyroidism due to an activating germline mutation, p.M453T, in the thyrotropin receptor gene. OBJECTIVE: To describe clinical and genetic features of a Thai family with non-autoimmune hyperthyroidism (NAH) caused by an activating germline mutation in the thyrotropin re...

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

[ "0", "0", "0", "0", "2", "2", "0", "0", "0", "0", "0", "0", "0", "5", "0", "0", "0", "1", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "2", "0", "0", "0", "0", "0", "0", "0", "...

19728177

Prolonged hypothermia as a bridge to recovery for cerebral edema and intracranial hypertension associated with fulminant hepatic failure. BACKGROUND: To review evidence-based treatment options in patients with cerebral edema complicating fulminant hepatic failure (FHF) and discuss the potential applications of hypother...

[ "Prolonged", "hypothermia", "as", "a", "bridge", "to", "recovery", "for", "cerebral", "edema", "and", "intracranial", "hypertension", "associated", "with", "fulminant", "hepatic", "failure", ".", "BACKGROUND", ":", "To", "review", "evidence-based", "treatment", "opt...

[ "0", "2", "0", "0", "0", "0", "0", "0", "2", "2", "0", "2", "2", "0", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "4", "0", "2", "2", "0", "2", "2", "2", "0", "2", "0", "0", "0", "0", "0", "0", "0", "2", "...

20606392

Atypical GH insensitivity syndrome and severe insulin-like growth factor-I deficiency resulting from compound heterozygous mutations of the GH receptor, including a novel frameshift mutation affecting the intracellular domain. BACKGROUND/AIMS: GH insensitivity and IGF deficiency may result from aberrations of the GH re...

[ "Atypical", "GH", "insensitivity", "syndrome", "and", "severe", "insulin-like", "growth", "factor-I", "deficiency", "resulting", "from", "compound", "heterozygous", "mutations", "of", "the", "GH", "receptor", ",", "including", "a", "novel", "frameshift", "mutation", ...

[ "0", "2", "2", "2", "0", "0", "2", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "1", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "2", "2", "0", "0", "0", "0", "0", "0", "1", "1", "...

20806042

A novel mutation in GJA8 causing congenital cataract-microcornea syndrome in a Chinese pedigree. PURPOSE: To identify the underlying genetic defect in a four-generation family of Chinese origin with autosomal dominant congenital cataract-microcornea syndrome (CCMC). METHODS: All individuals in the study underwent a ful...

[ "A", "novel", "mutation", "in", "GJA8", "causing", "congenital", "cataract-microcornea", "syndrome", "in", "a", "Chinese", "pedigree", ".", "PURPOSE", ":", "To", "identify", "the", "underlying", "genetic", "defect", "in", "a", "four-generation", "family", "of", ...

[ "0", "0", "0", "0", "1", "0", "0", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "2", "0", "0", "0", "0", "0", "0", "0", "0", "...

21163864

The M235T polymorphism of the angiotensinogen gene in South Indian patients of hypertrophic cardiomyopathy. INTRODUCTION: Hypertrophic cardiomyopathy (HCM) is a complex disorder and genetically transmitted cardiac disease with a diverse clinical course. The objective of the present study was to examine the association ...

[ "The", "M235T", "polymorphism", "of", "the", "angiotensinogen", "gene", "in", "South", "Indian", "patients", "of", "hypertrophic", "cardiomyopathy", ".", "INTRODUCTION", ":", "Hypertrophic", "cardiomyopathy", "(", "HCM", ")", "is", "a", "complex", "disorder", "and...

[ "0", "5", "0", "0", "0", "1", "0", "0", "0", "0", "4", "0", "2", "2", "0", "0", "0", "2", "2", "0", "2", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...

21682595

XRCC1 Arg399Gln gene polymorphism and the risk of systemic lupus erythematosus in the Polish population. It has been shown that DNA repair is reduced in patients with systemic lupus erythematosus (SLE) and that the X-ray repair cross-complementing (XRCC1) Arg399Gln (rs25487) polymorphism may contribute to DNA repair. W...

[ "XRCC1", "Arg399Gln", "gene", "polymorphism", "and", "the", "risk", "of", "systemic", "lupus", "erythematosus", "in", "the", "Polish", "population", ".", "It", "has", "been", "shown", "that", "DNA", "repair", "is", "reduced", "in", "patients", "with", "systemi...

[ "1", "5", "0", "0", "0", "0", "0", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "4", "0", "2", "2", "2", "0", "2", "0", "0", "0", "0", "1", "1", "1", "0", "1", "0", "5", "0", "...

24126708

Association of common genetic variants of HOMER1 gene with levodopa adverse effects in Parkinson's disease patients. Levodopa is the most effective symptomatic therapy for Parkinson's disease, but its chronic use could lead to chronic adverse outcomes, such as motor fluctuations, dyskinesia and visual hallucinations. H...

[ "Association", "of", "common", "genetic", "variants", "of", "HOMER1", "gene", "with", "levodopa", "adverse", "effects", "in", "Parkinson", "'s", "disease", "patients", ".", "Levodopa", "is", "the", "most", "effective", "symptomatic", "therapy", "for", "Parkinson",...

[ "0", "0", "0", "0", "0", "0", "1", "0", "0", "3", "0", "0", "0", "2", "2", "2", "4", "0", "3", "0", "0", "0", "0", "0", "0", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...

25983002

Inhibition of LDHA suppresses tumor progression in prostate cancer. A key hallmark of cancer cells is their altered metabolism, known as Warburg effect. Lactate dehydrogenase A (LDHA) executes the final step of aerobic glycolysis and has been reported to be involved in the tumor progression. However, the function of LD...

[ "Inhibition", "of", "LDHA", "suppresses", "tumor", "progression", "in", "prostate", "cancer", ".", "A", "key", "hallmark", "of", "cancer", "cells", "is", "their", "altered", "metabolism", ",", "known", "as", "Warburg", "effect", ".", "Lactate", "dehydrogenase", ...

[ "0", "0", "1", "0", "2", "0", "0", "2", "2", "0", "0", "0", "0", "0", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "1", "1", "1", "0", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...

27640183

Erythropoietin does not activate erythropoietin receptor signaling or lipolytic pathways in human subcutaneous white adipose tissue in vivo. BACKGROUND: Erythropoietin (Epo) exerts direct effects on white adipose tissue (WAT) in mice in addition to its erythropoietic effects, and in humans Epo increases resting energy ...

[ "Erythropoietin", "does", "not", "activate", "erythropoietin", "receptor", "signaling", "or", "lipolytic", "pathways", "in", "human", "subcutaneous", "white", "adipose", "tissue", "in", "vivo", ".", "BACKGROUND", ":", "Erythropoietin", "(", "Epo", ")", "exerts", "...

[ "1", "0", "0", "0", "1", "1", "0", "0", "0", "0", "0", "4", "0", "0", "0", "0", "0", "0", "0", "0", "0", "1", "0", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "4", "0", "0", "0", "0", "0", "0", "0", "0", "...

28411266

Genetic Variation at the Sulfonylurea Receptor, Type 2 Diabetes, and Coronary Heart Disease. Despite widespread clinical use in the treatment of type 2 diabetes, the impact of sulfonylurea therapy on cardiovascular outcomes remains uncertain. Studies of naturally occurring genetic variation can be used to anticipate th...

[ "Genetic", "Variation", "at", "the", "Sulfonylurea", "Receptor", ",", "Type", "2", "Diabetes", ",", "and", "Coronary", "Heart", "Disease", ".", "Despite", "widespread", "clinical", "use", "in", "the", "treatment", "of", "type", "2", "diabetes", ",", "the", "...

[ "0", "0", "0", "0", "1", "1", "0", "2", "2", "2", "0", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "2", "0", "0", "0", "0", "3", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...

7468724

Cardiovascular complications associated with terbutaline treatment for preterm labor. Severe cardiovascular complications occurred in eight of 160 patients treated with terbutaline for preterm labor. Associated corticosteroid therapy and twin gestations appear to be predisposing factors. Potential mechanisms of the pat...

[ "Cardiovascular", "complications", "associated", "with", "terbutaline", "treatment", "for", "preterm", "labor", ".", "Severe", "cardiovascular", "complications", "occurred", "in", "eight", "of", "160", "patients", "treated", "with", "terbutaline", "for", "preterm", "l...

[ "2", "2", "0", "0", "3", "0", "0", "2", "2", "0", "0", "2", "2", "0", "0", "0", "0", "0", "4", "0", "0", "3", "0", "2", "2", "0", "0", "3", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...

7668252

Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients. Two overlapping cDNA clones (1, 991 bp and 736 bp, respectively) encoding the precursor of human mitochondrial very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) were cloned and sequenced....

[ "Cloning", "of", "human", "very-long-chain", "acyl-coenzyme", "A", "dehydrogenase", "and", "molecular", "characterization", "of", "its", "deficiency", "in", "two", "patients", ".", "Two", "overlapping", "cDNA", "clones", "(", "1", ",", "991", "bp", "and", "736",...

[ "0", "0", "4", "1", "1", "1", "1", "0", "0", "0", "0", "0", "0", "0", "0", "4", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "4", "0", "1", "1", "1", "1", "0", "1", "0", "...

8002973

Adrenoleukodystrophy gene encodes an 80 kDa membrane protein. An antibody against the synthetic C-terminal peptides deduced from the cDNA of the gene responsible for X-linked adrenoleukodystrophy (ALD) was produced to characterize the product of the ALD gene. The antibody reacted with the 80 kDa band protein in control...

[ "Adrenoleukodystrophy", "gene", "encodes", "an", "80", "kDa", "membrane", "protein", ".", "An", "antibody", "against", "the", "synthetic", "C-terminal", "peptides", "deduced", "from", "the", "cDNA", "of", "the", "gene", "responsible", "for", "X-linked", "adrenoleu...

[ "1", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "1", "0", "0", "0", "0", "0", "0", "...

8755918

Mutations associated with variant phenotypes in ataxia-telangiectasia. We have identified 14 families with ataxia-telangiectasia (A-T) in which mutation of the ATM gene is associated with a less severe clinical and cellular phenotype (approximately 10% -15% of A-T families identified in the United Kingdom). In 10 of th...

[ "Mutations", "associated", "with", "variant", "phenotypes", "in", "ataxia-telangiectasia", ".", "We", "have", "identified", "14", "families", "with", "ataxia-telangiectasia", "(", "A-T", ")", "in", "which", "mutation", "of", "the", "ATM", "gene", "is", "associated...

[ "0", "0", "0", "0", "0", "0", "2", "0", "0", "0", "0", "0", "0", "0", "2", "0", "2", "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", "2", "0", "0", "...

9746003

Inappropriate use of carbamazepine and vigabatrin in typical absence seizures. Carbamazepine and vigabatrin are contraindicated in typical absence seizures. Of 18 consecutive referrals of children with resistant typical absences only, eight were erroneously treated with carbamazepine either as monotherapy or as an add-...

[ "Inappropriate", "use", "of", "carbamazepine", "and", "vigabatrin", "in", "typical", "absence", "seizures", ".", "Carbamazepine", "and", "vigabatrin", "are", "contraindicated", "in", "typical", "absence", "seizures", ".", "Of", "18", "consecutive", "referrals", "of"...

[ "0", "0", "0", "3", "0", "3", "0", "0", "2", "2", "0", "3", "0", "3", "0", "0", "0", "0", "2", "2", "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", "...

15609295

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. Bernard-Soulier syndrome (BSS) is a rare inherited bleeding disorder due to quantitative or qualitative abnormalities in the platelet glycoprotein (GP) ...

[ "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", ".", "Bernard-Soulier", "syndr...

[ "0", "0", "0", "0", "0", "0", "0", "0", "0", "5", "0", "0", "0", "0", "1", "1", "0", "0", "0", "4", "0", "2", "2", "0", "2", "2", "0", "2", "0", "0", "0", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "1", "...

16288197

Genetic homogeneity for inherited congenital microcoria loci in an Asian Indian pedigree. 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 l...

[ "Genetic", "homogeneity", "for", "inherited", "congenital", "microcoria", "loci", "in", "an", "Asian", "Indian", "pedigree", ".", "PURPOSE", ":", "Congenital", "microcoria", "is", "a", "rare", "autosomal", "dominant", "developmental", "disorder", "of", "the", "iri...

[ "0", "0", "0", "0", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "0", "0", "2", "2", "2", "2", "2", "2", "2", "0", "0", "2", "0", "2", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...

17177139

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

[ "A", "novel", "mutation", "(", "E333D", ")", "in", "the", "thyroid", "hormone", "beta", "receptor", "causing", "resistance", "to", "thyroid", "hormone", "syndrome", ".", "Resistance", "to", "thyroid", "hormone", "(", "RTH", ")", "is", "an", "inherited", "syn...

[ "0", "0", "0", "0", "5", "0", "0", "0", "1", "1", "1", "1", "0", "2", "2", "2", "2", "2", "0", "2", "2", "2", "2", "0", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "3", "3", "0", "3", "0", "0", "0", "0", "0", "0", "1", "...

17634480

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

[ "Common", "germline", "genetic", "variation", "in", "antioxidant", "defense", "genes", "and", "survival", "after", "diagnosis", "of", "breast", "cancer", ".", "PURPOSE", ":", "The", "prognosis", "of", "breast", "cancer", "varies", "considerably", "among", "individ...

[ "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "0", "0", "0", "0", "0", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...

15748645

Photochemoprevention of ultraviolet B signaling and photocarcinogenesis. Exposure to solar radiation, particularly its ultraviolet (UV) B component, has a variety of harmful effects on human health. Some of these effects include sunburn cell formation, basal and squamous cell cancers, melanoma, cataracts, photoaging of...

[ "Photochemoprevention", "of", "ultraviolet", "B", "signaling", "and", "photocarcinogenesis", ".", "Exposure", "to", "solar", "radiation", ",", "particularly", "its", "ultraviolet", "(", "UV", ")", "B", "component", ",", "has", "a", "variety", "of", "harmful", "e...

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16543197

A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis. PURPOSE: To identify the genetic basis of recessive inheritance of high hyperopia and Leber congenital amaurosis (LCA) in a family of Middle Eastern origin. MATERIALS AND METHODS: The patients were examined using standard opht...

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20477932

Cocaine causes memory and learning impairments in rats: involvement of nuclear factor kappa B and oxidative stress, and prevention by topiramate. Different mechanisms have been suggested for cocaine toxicity including an increase in oxidative stress but the association between oxidative status in the brain and cocaine ...

[ "Cocaine", "causes", "memory", "and", "learning", "impairments", "in", "rats", ":", "involvement", "of", "nuclear", "factor", "kappa", "B", "and", "oxidative", "stress", ",", "and", "prevention", "by", "topiramate", ".", "Different", "mechanisms", "have", "been"...

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28348168

FGFR2 is required for airway basal cell self-renewal and terminal differentiation. Airway stem cells slowly self-renew and produce differentiated progeny to maintain homeostasis throughout the lifespan of an individual. Mutations in the molecular regulators of these processes may drive cancer or degenerative disease, b...

[ "FGFR2", "is", "required", "for", "airway", "basal", "cell", "self-renewal", "and", "terminal", "differentiation", ".", "Airway", "stem", "cells", "slowly", "self-renew", "and", "produce", "differentiated", "progeny", "to", "maintain", "homeostasis", "throughout", "...

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16418600

Genetic investigation of the TSPYL1 gene in sudden infant death syndrome. BACKGROUND: Sudden infant death syndrome (SIDS) constitutes the most frequent cause of death in the postperinatal period in Germany. Recently, a lethal phenotype characterized by sudden infant death with dysgenesis of the testes syndrome (SIDDT) ...

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16904497

Cauda equina syndrome after epidural steroid injection: a case report. OBJECTIVE: Conventional treatment methods of lumbusacral radiculopathy are physical therapy, epidural steroid injections, oral medications, and spinal manipulative therapy. Cauda equina syndrome is a rare complication of epidural anesthesia. The fol...

[ "Cauda", "equina", "syndrome", "after", "epidural", "steroid", "injection", ":", "a", "case", "report", ".", "OBJECTIVE", ":", "Conventional", "treatment", "methods", "of", "lumbusacral", "radiculopathy", "are", "physical", "therapy", ",", "epidural", "steroid", "...

[ "2", "2", "2", "0", "0", "3", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "0", "0", "0", "0", "0", "3", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "...

17083016

Genetic polymorphism of the binding domain of surfactant protein-A2 increases susceptibility to meningococcal disease. BACKGROUND: Meningococcal disease occurs after colonization of the nasopharynx with Neisseria meningitidis. Surfactant protein (SP)-A and SP-D are pattern-recognition molecules of the respiratory tract...

[ "Genetic", "polymorphism", "of", "the", "binding", "domain", "of", "surfactant", "protein-A2", "increases", "susceptibility", "to", "meningococcal", "disease", ".", "BACKGROUND", ":", "Meningococcal", "disease", "occurs", "after", "colonization", "of", "the", "nasopha...

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17910065

A novel missense mutation in the paired domain of human PAX9 causes oligodontia. PAX9 and MSX1 are transcription factors that play essential roles in craniofacial and limb development. In humans, mutations in both genes are associated with nonsyndromic and syndromic oligodontia, respectively. We screened one family wit...

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20846357

A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome. BACKGROUND: Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital ectodermal disorder, caused by heterozygous missense mutation in GJB2, encoding the gap juncti...

[ "A", "novel", "mutation", "in", "the", "connexin", "26", "gene", "(", "GJB2", ")", "in", "a", "child", "with", "clinical", "and", "histological", "features", "of", "keratitis-ichthyosis-deafness", "(", "KID", ")", "syndrome", ".", "BACKGROUND", ":", "Keratitis...

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26115410

Mechanisms Underlying Latent Disease Risk Associated with Early-Life Arsenic Exposure: Current Research Trends and Scientific Gaps. BACKGROUND: Millions of individuals worldwide, particularly those living in rural and developing areas, are exposed to harmful levels of inorganic arsenic (iAs) in their drinking water. In...

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15807692

Identification of novel type VII collagen gene mutations resulting in severe recessive dystrophic epidermolysis bullosa. In this work, we studied the proband in a small nuclear family of Chinese and Dutch/German descent and identified two novel mutations in the type VII collagen gene leading to recessive dystrophic epi...

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16157158

A Cys 23-Ser 23 substitution in the 5-HT(2C) receptor gene influences body weight regulation in females with seasonal affective disorder: an Austrian-Canadian collaborative study. Most females with seasonal affective disorder (SAD) exhibit atypical vegetative symptoms such as overeating, and weight gain when depressed....

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17192049

Cytochrome p4501A1 gene variants as susceptibility marker for prostate cancer. CYP1A1 activates environmental procarcinogens and catalyzes oxidative metabolism of estrogens and is likely to play an important role in the etiology of prostate cancer. To evaluate this phenomenon, the association between two single nucleot...

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New_BioRED_Model

Dataset Card for "New_BioRED_Model"