SHS/newest_biored · Datasets at Hugging Face

pmid stringlengths 7 8	passage stringlengths 544 2.7k	tokens sequence	ner_tags sequence
15485686	A novel SCN5A mutation manifests as a malignant form of long QT syndrome with perinatal onset of tachycardia/bradycardia. OBJECTIVE: Congenital long QT syndrome (LQTS) with in utero onset of the rhythm disturbances is associated with a poor prognosis. In this study we investigated a newborn patient with fetal bradycard...	[ "A", "novel", "SCN5A", "mutation", "manifests", "as", "a", "malignant", "form", "of", "long", "QT", "syndrome", "with", "perinatal", "onset", "of", "tachycardia", "/", "bradycardia", ".", "OBJECTIVE", ":", "Congenital", "long", "QT", "syndrome", "(", "LQTS", ...	[ "0", "0", "1", "0", "0", "0", "0", "0", "0", "0", "2", "2", "2", "0", "0", "0", "0", "2", "0", "2", "0", "0", "0", "0", "2", "2", "2", "0", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...
16046395	Allelic expression imbalance of human mu opioid receptor (OPRM1) caused by variant A118G. As a primary target for opioid drugs and peptides, the mu opioid receptor (OPRM1) plays a key role in pain perception and addiction. Genetic variants of OPRM1 have been implicated in predisposition to drug addiction, in particular...	[ "Allelic", "expression", "imbalance", "of", "human", "mu", "opioid", "receptor", "(", "OPRM1", ")", "caused", "by", "variant", "A118G", ".", "As", "a", "primary", "target", "for", "opioid", "drugs", "and", "peptides", ",", "the", "mu", "opioid", "receptor", ...	[ "0", "0", "0", "0", "4", "1", "1", "1", "0", "1", "0", "0", "0", "0", "5", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "1", "1", "1", "0", "1", "0", "0", "0", "0", "0", "0", "2", "0", "0", "0", "0", "0", "0", "...
18457324	Genetic polymorphisms in the carbonyl reductase 3 gene CBR3 and the NAD(P)H:quinone oxidoreductase 1 gene NQO1 in patients who developed anthracycline-related congestive heart failure after childhood cancer. BACKGROUND: Exposure to anthracyclines as part of cancer therapy has been associated with the development of con...	[ "Genetic", "polymorphisms", "in", "the", "carbonyl", "reductase", "3", "gene", "CBR3", "and", "the", "NAD", "(", "P", ")", "H", ":", "quinone", "oxidoreductase", "1", "gene", "NQO1", "in", "patients", "who", "developed", "anthracycline", "-", "related", "con...	[ "0", "0", "0", "0", "1", "1", "1", "0", "1", "0", "0", "1", "1", "1", "1", "1", "1", "1", "1", "1", "0", "1", "0", "4", "0", "0", "3", "0", "0", "2", "2", "2", "0", "0", "2", "0", "0", "0", "0", "0", "3", "0", "0", "0", "2", "...
1848636	Debrisoquine phenotype and the pharmacokinetics and beta-2 receptor pharmacodynamics of metoprolol and its enantiomers. The metabolism of the cardioselective beta-blocker metoprolol is under genetic control of the debrisoquine/sparteine type. The two metabolic phenotypes, extensive (EM) and poor metabolizers (PM), show...	[ "Debrisoquine", "phenotype", "and", "the", "pharmacokinetics", "and", "beta", "-", "2", "receptor", "pharmacodynamics", "of", "metoprolol", "and", "its", "enantiomers", ".", "The", "metabolism", "of", "the", "cardioselective", "beta", "-", "blocker", "metoprolol", ...	[ "3", "0", "0", "0", "0", "0", "1", "1", "1", "1", "0", "0", "3", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "3", "0", "0", "0", "0", "0", "0", "3", "0", "3", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...
19394258	The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome. Deoxyguanosine kinase (dGK) deficiency is a frequent cause of mitochondrial DNA depletion associated with a hepatocerebral phenotype. In this study, we describe a new splice site mutation in the DGUOK gene and the clin...	[ "The", "first", "founder", "DGUOK", "mutation", "associated", "with", "hepatocerebral", "mitochondrial", "DNA", "depletion", "syndrome", ".", "Deoxyguanosine", "kinase", "(", "dGK", ")", "deficiency", "is", "a", "frequent", "cause", "of", "mitochondrial", "DNA", "...	[ "0", "0", "0", "1", "0", "0", "0", "2", "2", "2", "2", "2", "0", "2", "2", "2", "2", "2", "2", "0", "0", "0", "0", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...
19565319	Adenosine A(2A) receptor gene (ADORA2A) variants may increase autistic symptoms and anxiety in autism spectrum disorder. Autism spectrum disorders (ASDs) are heterogeneous disorders presenting with increased rates of anxiety. The adenosine A(2A) receptor gene (ADORA2A) is associated with panic disorder and is located o...	[ "Adenosine", "A", "(", "2A", ")", "receptor", "gene", "(", "ADORA2A", ")", "variants", "may", "increase", "autistic", "symptoms", "and", "anxiety", "in", "autism", "spectrum", "disorder", ".", "Autism", "spectrum", "disorders", "(", "ASDs", ")", "are", "hete...	[ "1", "1", "1", "1", "1", "1", "0", "0", "1", "0", "0", "0", "0", "2", "2", "0", "2", "0", "2", "2", "2", "0", "2", "2", "2", "0", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "0", "0", "1", "1", "1", "1", "1", "1", "...
21976953	Identification of a novel FBN1 gene mutation in a Chinese family with Marfan syndrome. PURPOSE: To identify the mutation in the fibrillin-1 gene (FBN1) in a Chinese family with Marfan syndrome (MFS). METHODS: Patients and family members were given complete physical, ophthalmic, and cardiovascular examinations. Genomic ...	[ "Identification", "of", "a", "novel", "FBN1", "gene", "mutation", "in", "a", "Chinese", "family", "with", "Marfan", "syndrome", ".", "PURPOSE", ":", "To", "identify", "the", "mutation", "in", "the", "fibrillin", "-", "1", "gene", "(", "FBN1", ")", "in", ...	[ "0", "0", "0", "0", "1", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "1", "1", "1", "0", "0", "1", "0", "0", "0", "0", "0", "0", "2", "2", "0", "2", "0", "0", "0", "0", "4", "0", "...
2491010	Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene. Eighty unrelated individuals with Duchenne muscular dystrophy (DMD)or Becker muscular dystrophy (BMD) were found to have deletions in the major deletion-rich region of the DMD locu...	[ "Molecular", "and", "phenotypic", "analysis", "of", "patients", "with", "deletions", "within", "the", "deletion", "-", "rich", "region", "of", "the", "Duchenne", "muscular", "dystrophy", "(", "DMD", ")", "gene", ".", "Eighty", "unrelated", "individuals", "with",...	[ "0", "0", "0", "0", "0", "4", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "1", "1", "1", "1", "1", "1", "1", "0", "0", "0", "0", "0", "2", "2", "2", "0", "2", "0", "0", "2", "2", "2", "0", "2", "0", "0", "0", "0", "0", "...
25006961	Absence of PKC-alpha attenuates lithium-induced nephrogenic diabetes insipidus. Lithium, an effective antipsychotic, induces nephrogenic diabetes insipidus (NDI) in 40% of patients. The decreased capacity to concentrate urine is likely due to lithium acutely disrupting the cAMP pathway and chronically reducing urea tr...	[ "Absence", "of", "PKC", "-", "alpha", "attenuates", "lithium", "-", "induced", "nephrogenic", "diabetes", "insipidus", ".", "Lithium", ",", "an", "effective", "antipsychotic", ",", "induces", "nephrogenic", "diabetes", "insipidus", "(", "NDI", ")", "in", "40", ...	[ "0", "0", "1", "1", "1", "0", "3", "0", "0", "2", "2", "2", "0", "3", "0", "0", "0", "0", "0", "0", "2", "2", "2", "0", "2", "0", "0", "0", "0", "0", "4", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "3", "0", "0", "...
27464336	Decreased Whole-Body Fat Mass Produced by Chronic Alcohol Consumption is Associated with Activation of S6K1-Mediated Protein Synthesis and Increased Autophagy in Epididymal White Adipose Tissue. BACKGROUND: Chronic alcohol consumption leads to a loss of white adipose tissue (WAT) but the underlying mechanisms for this ...	[ "Decreased", "Whole", "-", "Body", "Fat", "Mass", "Produced", "by", "Chronic", "Alcohol", "Consumption", "is", "Associated", "with", "Activation", "of", "S6K1", "-", "Mediated", "Protein", "Synthesis", "and", "Increased", "Autophagy", "in", "Epididymal", "White", ...	[ "0", "0", "0", "0", "0", "0", "0", "0", "0", "3", "0", "0", "0", "0", "0", "0", "1", "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", "0", "0", "0", "...
8829135	Nefiracetam (DM-9384) reverses apomorphine-induced amnesia of a passive avoidance response: delayed emergence of the memory retention effects. Nefiracetam is a novel pyrrolidone derivative which attenuates scopolamine-induced learning and post-training consolidation deficits. Given that apomorphine inhibits passive avo...	[ "Nefiracetam", "(", "DM", "-", "9384", ")", "reverses", "apomorphine", "-", "induced", "amnesia", "of", "a", "passive", "avoidance", "response", ":", "delayed", "emergence", "of", "the", "memory", "retention", "effects", ".", "Nefiracetam", "is", "a", "novel",...	[ "3", "0", "3", "3", "3", "0", "0", "3", "0", "0", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "3", "0", "0", "0", "3", "0", "0", "0", "3", "0", "0", "2", "2", "2", "2", "2", "2", "2", "0", "0", "...
9672936	Pethidine-associated seizure in a healthy adolescent receiving pethidine for postoperative pain control. A healthy 17-year-old male received standard intermittent doses of pethidine via a patient-controlled analgesia (PCA) pump for management of postoperative pain control. Twenty-three h postoperatively he developed a ...	[ "Pethidine", "-", "associated", "seizure", "in", "a", "healthy", "adolescent", "receiving", "pethidine", "for", "postoperative", "pain", "control", ".", "A", "healthy", "17", "-", "year", "-", "old", "male", "received", "standard", "intermittent", "doses", "of",...	[ "3", "0", "0", "2", "0", "0", "0", "0", "0", "3", "0", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "3", "0", "0", "4", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "...
18503483	Recovery of tacrolimus-associated brachial neuritis after conversion to everolimus in a pediatric renal transplant recipient--case report and review of the literature. TAC has been shown to be a potent immunosuppressive agent for solid organ transplantation in pediatrics. Neurotoxicity is a potentially serious toxic ef...	[ "Recovery", "of", "tacrolimus", "-", "associated", "brachial", "neuritis", "after", "conversion", "to", "everolimus", "in", "a", "pediatric", "renal", "transplant", "recipient", "-", "-", "case", "report", "and", "review", "of", "the", "literature", ".", "TAC", ...	[ "0", "0", "3", "0", "0", "2", "2", "0", "0", "0", "3", "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", "0", "0", "0", "0", "0", "0", "0", "0", "2", "...
26991973	MOL1 is required for cambium homeostasis in Arabidopsis. Plants maintain pools of pluripotent stem cells which allow them to constantly produce new tissues and organs. Stem cell homeostasis in shoot and root tips depends on negative regulation by ligand-receptor pairs of the CLE peptide and leucine-rich repeat receptor...	[ "MOL1", "is", "required", "for", "cambium", "homeostasis", "in", "Arabidopsis", ".", "Plants", "maintain", "pools", "of", "pluripotent", "stem", "cells", "which", "allow", "them", "to", "constantly", "produce", "new", "tissues", "and", "organs", ".", "Stem", "...	[ "1", "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", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...
16112787	In vivo evidences suggesting the role of oxidative stress in pathogenesis of vancomycin-induced nephrotoxicity: protection by erdosteine. The aims of this study were to examine vancomycin (VCM)-induced oxidative stress that promotes production of reactive oxygen species (ROS) and to investigate the role of erdosteine, ...	[ "In", "vivo", "evidences", "suggesting", "the", "role", "of", "oxidative", "stress", "in", "pathogenesis", "of", "vancomycin", "-", "induced", "nephrotoxicity", ":", "protection", "by", "erdosteine", ".", "The", "aims", "of", "this", "study", "were", "to", "ex...	[ "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "3", "0", "0", "2", "0", "0", "0", "3", "0", "0", "0", "0", "0", "0", "0", "0", "0", "3", "0", "3", "0", "0", "0", "0", "0", "0", "0", "0", "0", "3", "3", "3", "0", "...
21405999	Mutation screening of the GUCA1B gene in patients with autosomal dominant cone and cone rod dystrophy. Background: Heterozygous mutations in GUCA1A (MIM # 600364) have been identified to cause autosomal dominantly inherited cone dystrophy, cone rod dystrophy and macular dystrophy. However, the role of GUCA1B gene mutat...	[ "Mutation", "screening", "of", "the", "GUCA1B", "gene", "in", "patients", "with", "autosomal", "dominant", "cone", "and", "cone", "rod", "dystrophy", ".", "Background", ":", "Heterozygous", "mutations", "in", "GUCA1A", "(", "MIM", "#", "600364", ")", "have", ...	[ "0", "0", "0", "0", "1", "0", "0", "4", "0", "0", "0", "2", "2", "2", "2", "2", "0", "0", "0", "0", "0", "0", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "2", "2", "2", "0", "2", "2", "...
15233872	Cardioprotective effect of tincture of Crataegus on isoproterenol-induced myocardial infarction in rats. Tincture of Crataegus (TCR), an alcoholic extract of the berries of hawthorn (Crataegus oxycantha), is used in herbal and homeopathic medicine. The present study was done to investigate the protective effect of TCR ...	[ "Cardioprotective", "effect", "of", "tincture", "of", "Crataegus", "on", "isoproterenol", "-", "induced", "myocardial", "infarction", "in", "rats", ".", "Tincture", "of", "Crataegus", "(", "TCR", ")", ",", "an", "alcoholic", "extract", "of", "the", "berries", ...	[ "0", "0", "0", "3", "3", "3", "0", "3", "0", "0", "2", "2", "0", "4", "0", "3", "3", "3", "0", "3", "0", "0", "0", "3", "3", "3", "3", "3", "3", "3", "0", "3", "3", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...
17059986	A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension. We report a case of Gitelman syndrome (GS) in a dizygotic twin who presented at 12 years of age with growth delay, metabolic alkalosis, hypomagnesemia and hypokalemia with inappropriate kaliuresis, and idiop...	[ "A", "novel", "splicing", "mutation", "in", "SLC12A3", "associated", "with", "Gitelman", "syndrome", "and", "idiopathic", "intracranial", "hypertension", ".", "We", "report", "a", "case", "of", "Gitelman", "syndrome", "(", "GS", ")", "in", "a", "dizygotic", "t...	[ "0", "0", "0", "0", "0", "1", "0", "0", "2", "2", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "2", "2", "0", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "2", "2", "0", "2", "0", "...
18991055	Association between polymorphisms in SLC30A8, HHEX, CDKN2A/B, IGF2BP2, FTO, WFS1, CDKAL1, KCNQ1 and type 2 diabetes in the Korean population. According to recent genome-wide association studies, a number of single nucleotide polymorphisms (SNPs) are reported to be associated with type 2 diabetes mellitus (T2DM). The ai...	[ "Association", "between", "polymorphisms", "in", "SLC30A8", ",", "HHEX", ",", "CDKN2A", "/", "B", ",", "IGF2BP2", ",", "FTO", ",", "WFS1", ",", "CDKAL1", ",", "KCNQ1", "and", "type", "2", "diabetes", "in", "the", "Korean", "population", ".", "According", ...	[ "0", "0", "0", "0", "1", "0", "1", "0", "1", "1", "1", "0", "1", "0", "1", "0", "1", "0", "1", "0", "1", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...
20705401	Serotonin 6 receptor gene is associated with methamphetamine-induced psychosis in a Japanese population. BACKGROUND: Altered serotonergic neural transmission is hypothesized to be a susceptibility factor for psychotic disorders such as schizophrenia. The serotonin 6 (5-HT6) receptor is therapeutically targeted by sever...	[ "Serotonin", "6", "receptor", "gene", "is", "associated", "with", "methamphetamine", "-", "induced", "psychosis", "in", "a", "Japanese", "population", ".", "BACKGROUND", ":", "Altered", "serotonergic", "neural", "transmission", "is", "hypothesized", "to", "be", "a...	[ "1", "1", "1", "0", "0", "0", "0", "3", "0", "0", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "0", "2", "0", "0", "1", "1", "1", "1", "1", "1", "1", "1", "...
22369755	Reciprocal effects of NNK and SLURP-1 on oncogene expression in target epithelial cells. AIMS: To elucidate how the nicotinic acetylcholine receptors expressed on bronchial and oral epithelial cells targeted by the tobacco nitrosamine (4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone) (NNK) facilitate carcinogenic transf...	[ "Reciprocal", "effects", "of", "NNK", "and", "SLURP", "-", "1", "on", "oncogene", "expression", "in", "target", "epithelial", "cells", ".", "AIMS", ":", "To", "elucidate", "how", "the", "nicotinic", "acetylcholine", "receptors", "expressed", "on", "bronchial", ...	[ "0", "0", "0", "3", "0", "1", "1", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "1", "1", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "4", "3", "0", "3", "3", "3", "3", "3", "3", "3", "...
27959387	Long-term exposure of MCF-7 breast cancer cells to ethanol stimulates oncogenic features. Alcohol consumption is a risk factor for breast cancer. Little is known regarding the mechanism, although it is assumed that acetaldehyde or estrogen mediated pathways play a role. We previously showed that long-term exposure to 2...	[ "Long", "-", "term", "exposure", "of", "MCF", "-", "7", "breast", "cancer", "cells", "to", "ethanol", "stimulates", "oncogenic", "features", ".", "Alcohol", "consumption", "is", "a", "risk", "factor", "for", "breast", "cancer", ".", "Little", "is", "known", ...	[ "0", "0", "0", "0", "0", "6", "6", "6", "2", "2", "0", "0", "3", "0", "0", "0", "0", "3", "0", "0", "0", "0", "0", "0", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "3", "0", "3", "0", "0", "0", "...
21684788	Large contiguous gene deletions in Sjogren-Larsson syndrome. Sjogren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, spasticity and mutations in the ALDH3A2 gene for fatty aldehyde dehydrogenase, an enzyme that catalyzes the oxidation of fatty aldehyde to fatty...	[ "Large", "contiguous", "gene", "deletions", "in", "Sjogren", "-", "Larsson", "syndrome", ".", "Sjogren", "-", "Larsson", "syndrome", "(", "SLS", ")", "is", "an", "autosomal", "recessive", "disorder", "characterized", "by", "ichthyosis", ",", "mental", "retardati...	[ "0", "0", "0", "0", "0", "2", "2", "2", "2", "0", "2", "2", "2", "2", "0", "2", "0", "0", "0", "2", "2", "2", "0", "0", "2", "0", "2", "2", "0", "2", "0", "0", "0", "0", "1", "0", "0", "1", "1", "1", "0", "0", "0", "0", "0", "...
26937641	Serum Amyloid A Induces Inflammation, Proliferation and Cell Death in Activated Hepatic Stellate Cells. Serum amyloid A (SAA) is an evolutionary highly conserved acute phase protein that is predominantly secreted by hepatocytes. However, its role in liver injury and fibrogenesis has not been elucidated so far. In this ...	[ "Serum", "Amyloid", "A", "Induces", "Inflammation", ",", "Proliferation", "and", "Cell", "Death", "in", "Activated", "Hepatic", "Stellate", "Cells", ".", "Serum", "amyloid", "A", "(", "SAA", ")", "is", "an", "evolutionary", "highly", "conserved", "acute", "pha...	[ "1", "1", "1", "0", "0", "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", "0", "0", "0", "0", "0", "0", "0", "2", "2", "2", "...
15464247	Influence of interleukin 12B (IL12B) polymorphisms on spontaneous and treatment-induced recovery from hepatitis C virus infection. BACKGROUND/AIMS: Interleukin-12 (IL-12) governs the Th1-type immune response, affecting the spontaneous and treatment-induced recovery from HCV-infection. We investigated whether the IL12B ...	[ "Influence", "of", "interleukin", "12B", "(", "IL12B", ")", "polymorphisms", "on", "spontaneous", "and", "treatment", "-", "induced", "recovery", "from", "hepatitis", "C", "virus", "infection", ".", "BACKGROUND", "/", "AIMS", ":", "Interleukin", "-", "12", "("...	[ "0", "0", "1", "1", "0", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "2", "2", "0", "0", "0", "0", "0", "1", "1", "1", "0", "1", "1", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...
15824163	No Evidence for BRAF as a melanoma/nevus susceptibility gene. Somatic mutations of BRAF have been identified in both melanoma tumors and benign nevi. Germ line mutations in BRAF have not been identified as causal in families predisposed to melanoma. However, a recent study suggested that a BRAF haplotype was associated...	[ "No", "Evidence", "for", "BRAF", "as", "a", "melanoma", "/", "nevus", "susceptibility", "gene", ".", "Somatic", "mutations", "of", "BRAF", "have", "been", "identified", "in", "both", "melanoma", "tumors", "and", "benign", "nevi", ".", "Germ", "line", "mutati...	[ "0", "0", "0", "1", "0", "0", "2", "0", "2", "0", "0", "0", "0", "0", "0", "1", "0", "0", "0", "0", "0", "2", "2", "0", "0", "2", "0", "0", "0", "0", "0", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "0", "0", "...
26900322	CFI-rs7356506 polymorphisms associated with Vogt-Koyanagi-Harada syndrome. PURPOSE: Complement factor I (CFI) plays an important role in complement activation pathways and is known to affect the development of uveitis. The present study was performed to investigate the existence of an association between CFI genetic po...	[ "CFI", "-", "rs7356506", "polymorphisms", "associated", "with", "Vogt", "-", "Koyanagi", "-", "Harada", "syndrome", ".", "PURPOSE", ":", "Complement", "factor", "I", "(", "CFI", ")", "plays", "an", "important", "role", "in", "complement", "activation", "pathwa...	[ "1", "0", "5", "0", "0", "0", "2", "2", "2", "2", "2", "2", "0", "0", "0", "1", "1", "1", "0", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "0", "0", "0", "0", "0", "0", "0", "...
16840830	Two novel mutations in the MEN1 gene in subjects with multiple endocrine neoplasia-1. Multiple endocrine neoplasia type 1 (MEN1) is characterized by parathyroid, enteropancreatic endocrine and pituitary adenomas as well as germline mutation of the MEN1 gene. We describe 2 families with MEN1 with novel mutations in the ...	[ "Two", "novel", "mutations", "in", "the", "MEN1", "gene", "in", "subjects", "with", "multiple", "endocrine", "neoplasia", "-", "1", ".", "Multiple", "endocrine", "neoplasia", "type", "1", "(", "MEN1", ")", "is", "characterized", "by", "parathyroid", ",", "en...	[ "0", "0", "0", "0", "0", "1", "0", "0", "0", "0", "2", "2", "2", "2", "2", "0", "2", "2", "2", "2", "2", "0", "2", "0", "0", "0", "0", "0", "0", "2", "2", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "1", "0", "0", "0", "...
15668505	Common BRCA2 variants and modification of breast and ovarian cancer risk in BRCA1 mutation carriers. The HH genotype of the nonconservative amino acid substitution polymorphism N372H in the BRCA2 gene was reported to be associated with a 1.3- to 1.5-fold increase in risk of both breast and ovarian cancer. As these stud...	[ "Common", "BRCA2", "variants", "and", "modification", "of", "breast", "and", "ovarian", "cancer", "risk", "in", "BRCA1", "mutation", "carriers", ".", "The", "HH", "genotype", "of", "the", "nonconservative", "amino", "acid", "substitution", "polymorphism", "N372H",...	[ "0", "1", "0", "0", "0", "0", "2", "2", "2", "2", "0", "0", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "5", "0", "0", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...
26847345	Transgelin increases metastatic potential of colorectal cancer cells in vivo and alters expression of genes involved in cell motility. BACKGROUND: Transgelin is an actin-binding protein that promotes motility in normal cells. Although the role of transgelin in cancer is controversial, a number of studies have shown tha...	[ "Transgelin", "increases", "metastatic", "potential", "of", "colorectal", "cancer", "cells", "in", "vivo", "and", "alters", "expression", "of", "genes", "involved", "in", "cell", "motility", ".", "BACKGROUND", ":", "Transgelin", "is", "an", "actin", "-", "bindin...	[ "1", "0", "0", "0", "0", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "1", "0", "0", "1", "1", "1", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "1", "0", "2", "0", "0", "...
15818664	Association of sporadic chondrocalcinosis with a -4-basepair G-to-A transition in the 5'-untranslated region of ANKH that promotes enhanced expression of ANKH protein and excess generation of extracellular inorganic pyrophosphate. OBJECTIVE: Certain mutations in ANKH, which encodes a multiple-pass transmembrane protein...	[ "Association", "of", "sporadic", "chondrocalcinosis", "with", "a", "-", "4", "-", "basepair", "G", "-", "to", "-", "A", "transition", "in", "the", "5", "'", "-", "untranslated", "region", "of", "ANKH", "that", "promotes", "enhanced", "expression", "of", "A...	[ "0", "0", "2", "2", "0", "0", "5", "5", "5", "5", "5", "5", "5", "5", "5", "0", "0", "0", "0", "0", "0", "0", "0", "0", "1", "0", "0", "0", "0", "0", "1", "0", "0", "0", "0", "0", "0", "3", "3", "0", "0", "0", "0", "0", "0", "...
22729903	Contribution of STAT4 gene single-nucleotide polymorphism to systemic lupus erythematosus in the Polish population. The STAT4 has been found to be a susceptible gene in the development of systemic lupus erythematosus (SLE) in various populations. There are evident population differences in the context of clinical manif...	[ "Contribution", "of", "STAT4", "gene", "single", "-", "nucleotide", "polymorphism", "to", "systemic", "lupus", "erythematosus", "in", "the", "Polish", "population", ".", "The", "STAT4", "has", "been", "found", "to", "be", "a", "susceptible", "gene", "in", "the...	[ "0", "0", "1", "0", "0", "0", "0", "0", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "2", "0", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...
25277705	Leukemia inhibitory factor protects the lung during respiratory syncytial viral infection. BACKGROUND: Respiratory syncytial virus (RSV) infects the lung epithelium where it stimulates the production of numerous host cytokines that are associated with disease burden and acute lung injury. Characterizing the host cytoki...	[ "Leukemia", "inhibitory", "factor", "protects", "the", "lung", "during", "respiratory", "syncytial", "viral", "infection", ".", "BACKGROUND", ":", "Respiratory", "syncytial", "virus", "(", "RSV", ")", "infects", "the", "lung", "epithelium", "where", "it", "stimula...	[ "1", "1", "1", "0", "0", "0", "0", "2", "2", "2", "2", "0", "0", "0", "4", "4", "4", "0", "4", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "2", "0", "0", "...
15130900	Urinary bladder cancer in Wegener's granulomatosis: risks and relation to cyclophosphamide. OBJECTIVE: To assess and characterise the risk of bladder cancer, and its relation to cyclophosphamide, in patients with Wegener's granulomatosis. METHODS: In the population based, nationwide Swedish Inpatient Register a cohort ...	[ "Urinary", "bladder", "cancer", "in", "Wegener", "'s", "granulomatosis", ":", "risks", "and", "relation", "to", "cyclophosphamide", ".", "OBJECTIVE", ":", "To", "assess", "and", "characterise", "the", "risk", "of", "bladder", "cancer", ",", "and", "its", "rela...	[ "2", "2", "2", "0", "2", "2", "2", "0", "0", "0", "0", "0", "3", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "2", "2", "0", "0", "0", "0", "0", "3", "0", "0", "4", "0", "2", "2", "2", "0", "0", "0", "0", "0", "0", "0", "...
18257781	Co-inheritance of a PKD1 mutation and homozygous PKD2 variant: a potential modifier in autosomal dominant polycystic kidney disease. BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD), which is caused by mutations in polycystins 1 (PC1) and 2 (PC2), is one of the most commonly inherited renal diseases, af...	[ "Co", "-", "inheritance", "of", "a", "PKD1", "mutation", "and", "homozygous", "PKD2", "variant", ":", "a", "potential", "modifier", "in", "autosomal", "dominant", "polycystic", "kidney", "disease", ".", "BACKGROUND", ":", "Autosomal", "dominant", "polycystic", "...	[ "0", "0", "0", "0", "0", "1", "0", "0", "0", "1", "0", "0", "0", "0", "0", "0", "2", "2", "2", "2", "2", "0", "0", "0", "2", "2", "2", "2", "2", "0", "2", "0", "0", "0", "0", "0", "0", "0", "0", "1", "1", "0", "1", "0", "0", "...
20534762	Two novel mutations of the TSH-beta subunit gene underlying congenital central hypothyroidism undetectable in neonatal TSH screening. CONTEXT: Patients with TSH-beta subunit defects and congenital hypothyroidism are missed by TSH-based neonatal screening. OBJECTIVE: Our objective was to report the molecular consequence...	[ "Two", "novel", "mutations", "of", "the", "TSH", "-", "beta", "subunit", "gene", "underlying", "congenital", "central", "hypothyroidism", "undetectable", "in", "neonatal", "TSH", "screening", ".", "CONTEXT", ":", "Patients", "with", "TSH", "-", "beta", "subunit"...	[ "0", "0", "0", "0", "0", "1", "1", "1", "0", "0", "0", "2", "2", "2", "0", "0", "0", "1", "0", "0", "0", "0", "4", "0", "1", "1", "1", "0", "0", "0", "2", "2", "0", "0", "0", "1", "0", "0", "0", "0", "0", "0", "0", "0", "0", "...

15485686

A novel SCN5A mutation manifests as a malignant form of long QT syndrome with perinatal onset of tachycardia/bradycardia. OBJECTIVE: Congenital long QT syndrome (LQTS) with in utero onset of the rhythm disturbances is associated with a poor prognosis. In this study we investigated a newborn patient with fetal bradycard...

[ "A", "novel", "SCN5A", "mutation", "manifests", "as", "a", "malignant", "form", "of", "long", "QT", "syndrome", "with", "perinatal", "onset", "of", "tachycardia", "/", "bradycardia", ".", "OBJECTIVE", ":", "Congenital", "long", "QT", "syndrome", "(", "LQTS", ...

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

16046395

Allelic expression imbalance of human mu opioid receptor (OPRM1) caused by variant A118G. As a primary target for opioid drugs and peptides, the mu opioid receptor (OPRM1) plays a key role in pain perception and addiction. Genetic variants of OPRM1 have been implicated in predisposition to drug addiction, in particular...

[ "Allelic", "expression", "imbalance", "of", "human", "mu", "opioid", "receptor", "(", "OPRM1", ")", "caused", "by", "variant", "A118G", ".", "As", "a", "primary", "target", "for", "opioid", "drugs", "and", "peptides", ",", "the", "mu", "opioid", "receptor", ...

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

18457324

Genetic polymorphisms in the carbonyl reductase 3 gene CBR3 and the NAD(P)H:quinone oxidoreductase 1 gene NQO1 in patients who developed anthracycline-related congestive heart failure after childhood cancer. BACKGROUND: Exposure to anthracyclines as part of cancer therapy has been associated with the development of con...

[ "Genetic", "polymorphisms", "in", "the", "carbonyl", "reductase", "3", "gene", "CBR3", "and", "the", "NAD", "(", "P", ")", "H", ":", "quinone", "oxidoreductase", "1", "gene", "NQO1", "in", "patients", "who", "developed", "anthracycline", "-", "related", "con...

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

1848636

Debrisoquine phenotype and the pharmacokinetics and beta-2 receptor pharmacodynamics of metoprolol and its enantiomers. The metabolism of the cardioselective beta-blocker metoprolol is under genetic control of the debrisoquine/sparteine type. The two metabolic phenotypes, extensive (EM) and poor metabolizers (PM), show...

[ "Debrisoquine", "phenotype", "and", "the", "pharmacokinetics", "and", "beta", "-", "2", "receptor", "pharmacodynamics", "of", "metoprolol", "and", "its", "enantiomers", ".", "The", "metabolism", "of", "the", "cardioselective", "beta", "-", "blocker", "metoprolol", ...

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

19394258

The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome. Deoxyguanosine kinase (dGK) deficiency is a frequent cause of mitochondrial DNA depletion associated with a hepatocerebral phenotype. In this study, we describe a new splice site mutation in the DGUOK gene and the clin...

[ "The", "first", "founder", "DGUOK", "mutation", "associated", "with", "hepatocerebral", "mitochondrial", "DNA", "depletion", "syndrome", ".", "Deoxyguanosine", "kinase", "(", "dGK", ")", "deficiency", "is", "a", "frequent", "cause", "of", "mitochondrial", "DNA", "...

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

19565319

Adenosine A(2A) receptor gene (ADORA2A) variants may increase autistic symptoms and anxiety in autism spectrum disorder. Autism spectrum disorders (ASDs) are heterogeneous disorders presenting with increased rates of anxiety. The adenosine A(2A) receptor gene (ADORA2A) is associated with panic disorder and is located o...

[ "Adenosine", "A", "(", "2A", ")", "receptor", "gene", "(", "ADORA2A", ")", "variants", "may", "increase", "autistic", "symptoms", "and", "anxiety", "in", "autism", "spectrum", "disorder", ".", "Autism", "spectrum", "disorders", "(", "ASDs", ")", "are", "hete...

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

21976953

Identification of a novel FBN1 gene mutation in a Chinese family with Marfan syndrome. PURPOSE: To identify the mutation in the fibrillin-1 gene (FBN1) in a Chinese family with Marfan syndrome (MFS). METHODS: Patients and family members were given complete physical, ophthalmic, and cardiovascular examinations. Genomic ...

[ "Identification", "of", "a", "novel", "FBN1", "gene", "mutation", "in", "a", "Chinese", "family", "with", "Marfan", "syndrome", ".", "PURPOSE", ":", "To", "identify", "the", "mutation", "in", "the", "fibrillin", "-", "1", "gene", "(", "FBN1", ")", "in", ...

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

2491010

Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene. Eighty unrelated individuals with Duchenne muscular dystrophy (DMD)or Becker muscular dystrophy (BMD) were found to have deletions in the major deletion-rich region of the DMD locu...

[ "Molecular", "and", "phenotypic", "analysis", "of", "patients", "with", "deletions", "within", "the", "deletion", "-", "rich", "region", "of", "the", "Duchenne", "muscular", "dystrophy", "(", "DMD", ")", "gene", ".", "Eighty", "unrelated", "individuals", "with",...

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

25006961

Absence of PKC-alpha attenuates lithium-induced nephrogenic diabetes insipidus. Lithium, an effective antipsychotic, induces nephrogenic diabetes insipidus (NDI) in 40% of patients. The decreased capacity to concentrate urine is likely due to lithium acutely disrupting the cAMP pathway and chronically reducing urea tr...

[ "Absence", "of", "PKC", "-", "alpha", "attenuates", "lithium", "-", "induced", "nephrogenic", "diabetes", "insipidus", ".", "Lithium", ",", "an", "effective", "antipsychotic", ",", "induces", "nephrogenic", "diabetes", "insipidus", "(", "NDI", ")", "in", "40", ...

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

27464336

Decreased Whole-Body Fat Mass Produced by Chronic Alcohol Consumption is Associated with Activation of S6K1-Mediated Protein Synthesis and Increased Autophagy in Epididymal White Adipose Tissue. BACKGROUND: Chronic alcohol consumption leads to a loss of white adipose tissue (WAT) but the underlying mechanisms for this ...

[ "Decreased", "Whole", "-", "Body", "Fat", "Mass", "Produced", "by", "Chronic", "Alcohol", "Consumption", "is", "Associated", "with", "Activation", "of", "S6K1", "-", "Mediated", "Protein", "Synthesis", "and", "Increased", "Autophagy", "in", "Epididymal", "White", ...

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

8829135

Nefiracetam (DM-9384) reverses apomorphine-induced amnesia of a passive avoidance response: delayed emergence of the memory retention effects. Nefiracetam is a novel pyrrolidone derivative which attenuates scopolamine-induced learning and post-training consolidation deficits. Given that apomorphine inhibits passive avo...

[ "Nefiracetam", "(", "DM", "-", "9384", ")", "reverses", "apomorphine", "-", "induced", "amnesia", "of", "a", "passive", "avoidance", "response", ":", "delayed", "emergence", "of", "the", "memory", "retention", "effects", ".", "Nefiracetam", "is", "a", "novel",...

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

9672936

Pethidine-associated seizure in a healthy adolescent receiving pethidine for postoperative pain control. A healthy 17-year-old male received standard intermittent doses of pethidine via a patient-controlled analgesia (PCA) pump for management of postoperative pain control. Twenty-three h postoperatively he developed a ...

[ "Pethidine", "-", "associated", "seizure", "in", "a", "healthy", "adolescent", "receiving", "pethidine", "for", "postoperative", "pain", "control", ".", "A", "healthy", "17", "-", "year", "-", "old", "male", "received", "standard", "intermittent", "doses", "of",...

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

18503483

Recovery of tacrolimus-associated brachial neuritis after conversion to everolimus in a pediatric renal transplant recipient--case report and review of the literature. TAC has been shown to be a potent immunosuppressive agent for solid organ transplantation in pediatrics. Neurotoxicity is a potentially serious toxic ef...

[ "Recovery", "of", "tacrolimus", "-", "associated", "brachial", "neuritis", "after", "conversion", "to", "everolimus", "in", "a", "pediatric", "renal", "transplant", "recipient", "-", "-", "case", "report", "and", "review", "of", "the", "literature", ".", "TAC", ...

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

26991973

MOL1 is required for cambium homeostasis in Arabidopsis. Plants maintain pools of pluripotent stem cells which allow them to constantly produce new tissues and organs. Stem cell homeostasis in shoot and root tips depends on negative regulation by ligand-receptor pairs of the CLE peptide and leucine-rich repeat receptor...

[ "MOL1", "is", "required", "for", "cambium", "homeostasis", "in", "Arabidopsis", ".", "Plants", "maintain", "pools", "of", "pluripotent", "stem", "cells", "which", "allow", "them", "to", "constantly", "produce", "new", "tissues", "and", "organs", ".", "Stem", "...

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

16112787

In vivo evidences suggesting the role of oxidative stress in pathogenesis of vancomycin-induced nephrotoxicity: protection by erdosteine. The aims of this study were to examine vancomycin (VCM)-induced oxidative stress that promotes production of reactive oxygen species (ROS) and to investigate the role of erdosteine, ...

[ "In", "vivo", "evidences", "suggesting", "the", "role", "of", "oxidative", "stress", "in", "pathogenesis", "of", "vancomycin", "-", "induced", "nephrotoxicity", ":", "protection", "by", "erdosteine", ".", "The", "aims", "of", "this", "study", "were", "to", "ex...

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

21405999

Mutation screening of the GUCA1B gene in patients with autosomal dominant cone and cone rod dystrophy. Background: Heterozygous mutations in GUCA1A (MIM # 600364) have been identified to cause autosomal dominantly inherited cone dystrophy, cone rod dystrophy and macular dystrophy. However, the role of GUCA1B gene mutat...

[ "Mutation", "screening", "of", "the", "GUCA1B", "gene", "in", "patients", "with", "autosomal", "dominant", "cone", "and", "cone", "rod", "dystrophy", ".", "Background", ":", "Heterozygous", "mutations", "in", "GUCA1A", "(", "MIM", "#", "600364", ")", "have", ...

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

15233872

Cardioprotective effect of tincture of Crataegus on isoproterenol-induced myocardial infarction in rats. Tincture of Crataegus (TCR), an alcoholic extract of the berries of hawthorn (Crataegus oxycantha), is used in herbal and homeopathic medicine. The present study was done to investigate the protective effect of TCR ...

[ "Cardioprotective", "effect", "of", "tincture", "of", "Crataegus", "on", "isoproterenol", "-", "induced", "myocardial", "infarction", "in", "rats", ".", "Tincture", "of", "Crataegus", "(", "TCR", ")", ",", "an", "alcoholic", "extract", "of", "the", "berries", ...

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

17059986

A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension. We report a case of Gitelman syndrome (GS) in a dizygotic twin who presented at 12 years of age with growth delay, metabolic alkalosis, hypomagnesemia and hypokalemia with inappropriate kaliuresis, and idiop...

[ "A", "novel", "splicing", "mutation", "in", "SLC12A3", "associated", "with", "Gitelman", "syndrome", "and", "idiopathic", "intracranial", "hypertension", ".", "We", "report", "a", "case", "of", "Gitelman", "syndrome", "(", "GS", ")", "in", "a", "dizygotic", "t...

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

18991055

Association between polymorphisms in SLC30A8, HHEX, CDKN2A/B, IGF2BP2, FTO, WFS1, CDKAL1, KCNQ1 and type 2 diabetes in the Korean population. According to recent genome-wide association studies, a number of single nucleotide polymorphisms (SNPs) are reported to be associated with type 2 diabetes mellitus (T2DM). The ai...

[ "Association", "between", "polymorphisms", "in", "SLC30A8", ",", "HHEX", ",", "CDKN2A", "/", "B", ",", "IGF2BP2", ",", "FTO", ",", "WFS1", ",", "CDKAL1", ",", "KCNQ1", "and", "type", "2", "diabetes", "in", "the", "Korean", "population", ".", "According", ...

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

20705401

Serotonin 6 receptor gene is associated with methamphetamine-induced psychosis in a Japanese population. BACKGROUND: Altered serotonergic neural transmission is hypothesized to be a susceptibility factor for psychotic disorders such as schizophrenia. The serotonin 6 (5-HT6) receptor is therapeutically targeted by sever...

[ "Serotonin", "6", "receptor", "gene", "is", "associated", "with", "methamphetamine", "-", "induced", "psychosis", "in", "a", "Japanese", "population", ".", "BACKGROUND", ":", "Altered", "serotonergic", "neural", "transmission", "is", "hypothesized", "to", "be", "a...

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

22369755

Reciprocal effects of NNK and SLURP-1 on oncogene expression in target epithelial cells. AIMS: To elucidate how the nicotinic acetylcholine receptors expressed on bronchial and oral epithelial cells targeted by the tobacco nitrosamine (4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone) (NNK) facilitate carcinogenic transf...

[ "Reciprocal", "effects", "of", "NNK", "and", "SLURP", "-", "1", "on", "oncogene", "expression", "in", "target", "epithelial", "cells", ".", "AIMS", ":", "To", "elucidate", "how", "the", "nicotinic", "acetylcholine", "receptors", "expressed", "on", "bronchial", ...

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

27959387

Long-term exposure of MCF-7 breast cancer cells to ethanol stimulates oncogenic features. Alcohol consumption is a risk factor for breast cancer. Little is known regarding the mechanism, although it is assumed that acetaldehyde or estrogen mediated pathways play a role. We previously showed that long-term exposure to 2...

[ "Long", "-", "term", "exposure", "of", "MCF", "-", "7", "breast", "cancer", "cells", "to", "ethanol", "stimulates", "oncogenic", "features", ".", "Alcohol", "consumption", "is", "a", "risk", "factor", "for", "breast", "cancer", ".", "Little", "is", "known", ...

[ "0", "0", "0", "0", "0", "6", "6", "6", "2", "2", "0", "0", "3", "0", "0", "0", "0", "3", "0", "0", "0", "0", "0", "0", "2", "2", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "0", "3", "0", "3", "0", "0", "0", "...

21684788

Large contiguous gene deletions in Sjogren-Larsson syndrome. Sjogren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, spasticity and mutations in the ALDH3A2 gene for fatty aldehyde dehydrogenase, an enzyme that catalyzes the oxidation of fatty aldehyde to fatty...

[ "Large", "contiguous", "gene", "deletions", "in", "Sjogren", "-", "Larsson", "syndrome", ".", "Sjogren", "-", "Larsson", "syndrome", "(", "SLS", ")", "is", "an", "autosomal", "recessive", "disorder", "characterized", "by", "ichthyosis", ",", "mental", "retardati...

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

26937641

Serum Amyloid A Induces Inflammation, Proliferation and Cell Death in Activated Hepatic Stellate Cells. Serum amyloid A (SAA) is an evolutionary highly conserved acute phase protein that is predominantly secreted by hepatocytes. However, its role in liver injury and fibrogenesis has not been elucidated so far. In this ...

[ "Serum", "Amyloid", "A", "Induces", "Inflammation", ",", "Proliferation", "and", "Cell", "Death", "in", "Activated", "Hepatic", "Stellate", "Cells", ".", "Serum", "amyloid", "A", "(", "SAA", ")", "is", "an", "evolutionary", "highly", "conserved", "acute", "pha...

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

15464247

Influence of interleukin 12B (IL12B) polymorphisms on spontaneous and treatment-induced recovery from hepatitis C virus infection. BACKGROUND/AIMS: Interleukin-12 (IL-12) governs the Th1-type immune response, affecting the spontaneous and treatment-induced recovery from HCV-infection. We investigated whether the IL12B ...

[ "Influence", "of", "interleukin", "12B", "(", "IL12B", ")", "polymorphisms", "on", "spontaneous", "and", "treatment", "-", "induced", "recovery", "from", "hepatitis", "C", "virus", "infection", ".", "BACKGROUND", "/", "AIMS", ":", "Interleukin", "-", "12", "("...

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

15824163

No Evidence for BRAF as a melanoma/nevus susceptibility gene. Somatic mutations of BRAF have been identified in both melanoma tumors and benign nevi. Germ line mutations in BRAF have not been identified as causal in families predisposed to melanoma. However, a recent study suggested that a BRAF haplotype was associated...

[ "No", "Evidence", "for", "BRAF", "as", "a", "melanoma", "/", "nevus", "susceptibility", "gene", ".", "Somatic", "mutations", "of", "BRAF", "have", "been", "identified", "in", "both", "melanoma", "tumors", "and", "benign", "nevi", ".", "Germ", "line", "mutati...

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

26900322

CFI-rs7356506 polymorphisms associated with Vogt-Koyanagi-Harada syndrome. PURPOSE: Complement factor I (CFI) plays an important role in complement activation pathways and is known to affect the development of uveitis. The present study was performed to investigate the existence of an association between CFI genetic po...

[ "CFI", "-", "rs7356506", "polymorphisms", "associated", "with", "Vogt", "-", "Koyanagi", "-", "Harada", "syndrome", ".", "PURPOSE", ":", "Complement", "factor", "I", "(", "CFI", ")", "plays", "an", "important", "role", "in", "complement", "activation", "pathwa...

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

16840830

Two novel mutations in the MEN1 gene in subjects with multiple endocrine neoplasia-1. Multiple endocrine neoplasia type 1 (MEN1) is characterized by parathyroid, enteropancreatic endocrine and pituitary adenomas as well as germline mutation of the MEN1 gene. We describe 2 families with MEN1 with novel mutations in the ...

[ "Two", "novel", "mutations", "in", "the", "MEN1", "gene", "in", "subjects", "with", "multiple", "endocrine", "neoplasia", "-", "1", ".", "Multiple", "endocrine", "neoplasia", "type", "1", "(", "MEN1", ")", "is", "characterized", "by", "parathyroid", ",", "en...

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

15668505

Common BRCA2 variants and modification of breast and ovarian cancer risk in BRCA1 mutation carriers. The HH genotype of the nonconservative amino acid substitution polymorphism N372H in the BRCA2 gene was reported to be associated with a 1.3- to 1.5-fold increase in risk of both breast and ovarian cancer. As these stud...

[ "Common", "BRCA2", "variants", "and", "modification", "of", "breast", "and", "ovarian", "cancer", "risk", "in", "BRCA1", "mutation", "carriers", ".", "The", "HH", "genotype", "of", "the", "nonconservative", "amino", "acid", "substitution", "polymorphism", "N372H",...

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

26847345

Transgelin increases metastatic potential of colorectal cancer cells in vivo and alters expression of genes involved in cell motility. BACKGROUND: Transgelin is an actin-binding protein that promotes motility in normal cells. Although the role of transgelin in cancer is controversial, a number of studies have shown tha...

[ "Transgelin", "increases", "metastatic", "potential", "of", "colorectal", "cancer", "cells", "in", "vivo", "and", "alters", "expression", "of", "genes", "involved", "in", "cell", "motility", ".", "BACKGROUND", ":", "Transgelin", "is", "an", "actin", "-", "bindin...

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

15818664

Association of sporadic chondrocalcinosis with a -4-basepair G-to-A transition in the 5'-untranslated region of ANKH that promotes enhanced expression of ANKH protein and excess generation of extracellular inorganic pyrophosphate. OBJECTIVE: Certain mutations in ANKH, which encodes a multiple-pass transmembrane protein...

[ "Association", "of", "sporadic", "chondrocalcinosis", "with", "a", "-", "4", "-", "basepair", "G", "-", "to", "-", "A", "transition", "in", "the", "5", "'", "-", "untranslated", "region", "of", "ANKH", "that", "promotes", "enhanced", "expression", "of", "A...

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

22729903

Contribution of STAT4 gene single-nucleotide polymorphism to systemic lupus erythematosus in the Polish population. The STAT4 has been found to be a susceptible gene in the development of systemic lupus erythematosus (SLE) in various populations. There are evident population differences in the context of clinical manif...

[ "Contribution", "of", "STAT4", "gene", "single", "-", "nucleotide", "polymorphism", "to", "systemic", "lupus", "erythematosus", "in", "the", "Polish", "population", ".", "The", "STAT4", "has", "been", "found", "to", "be", "a", "susceptible", "gene", "in", "the...

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

25277705

Leukemia inhibitory factor protects the lung during respiratory syncytial viral infection. BACKGROUND: Respiratory syncytial virus (RSV) infects the lung epithelium where it stimulates the production of numerous host cytokines that are associated with disease burden and acute lung injury. Characterizing the host cytoki...

[ "Leukemia", "inhibitory", "factor", "protects", "the", "lung", "during", "respiratory", "syncytial", "viral", "infection", ".", "BACKGROUND", ":", "Respiratory", "syncytial", "virus", "(", "RSV", ")", "infects", "the", "lung", "epithelium", "where", "it", "stimula...

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

15130900

Urinary bladder cancer in Wegener's granulomatosis: risks and relation to cyclophosphamide. OBJECTIVE: To assess and characterise the risk of bladder cancer, and its relation to cyclophosphamide, in patients with Wegener's granulomatosis. METHODS: In the population based, nationwide Swedish Inpatient Register a cohort ...

[ "Urinary", "bladder", "cancer", "in", "Wegener", "'s", "granulomatosis", ":", "risks", "and", "relation", "to", "cyclophosphamide", ".", "OBJECTIVE", ":", "To", "assess", "and", "characterise", "the", "risk", "of", "bladder", "cancer", ",", "and", "its", "rela...

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

18257781

Co-inheritance of a PKD1 mutation and homozygous PKD2 variant: a potential modifier in autosomal dominant polycystic kidney disease. BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD), which is caused by mutations in polycystins 1 (PC1) and 2 (PC2), is one of the most commonly inherited renal diseases, af...

[ "Co", "-", "inheritance", "of", "a", "PKD1", "mutation", "and", "homozygous", "PKD2", "variant", ":", "a", "potential", "modifier", "in", "autosomal", "dominant", "polycystic", "kidney", "disease", ".", "BACKGROUND", ":", "Autosomal", "dominant", "polycystic", "...

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

20534762

Two novel mutations of the TSH-beta subunit gene underlying congenital central hypothyroidism undetectable in neonatal TSH screening. CONTEXT: Patients with TSH-beta subunit defects and congenital hypothyroidism are missed by TSH-based neonatal screening. OBJECTIVE: Our objective was to report the molecular consequence...

[ "Two", "novel", "mutations", "of", "the", "TSH", "-", "beta", "subunit", "gene", "underlying", "congenital", "central", "hypothyroidism", "undetectable", "in", "neonatal", "TSH", "screening", ".", "CONTEXT", ":", "Patients", "with", "TSH", "-", "beta", "subunit"...

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

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Dataset Card for "newest_biored"