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susceptibility gene

A modifier screen identifies DNAJB6 as a cardiomyopathy susceptibility gene

A modifier screen identifies DNAJB6 as a cardiomyopathy susceptibility gene

... identified 2 unreported missense variants in 214 Mayo Clinic patients with idiopathic DCM, 2 rare variants (1 missense and 1 cryptic splice-site variant) in 86 Mayo Clinic patients with hypertrophic CM (HCM), and 1 ...

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The Psychosis Susceptibility gene ZNF804A: associations, functions and phenotypes

The Psychosis Susceptibility gene ZNF804A: associations, functions and phenotypes

... 4. Shifman S, Johannesson M, Bronstein M, Chen SX, Collier DA, Craddock NJ, Kendler KS, Li T, O'Donovan M, O'Neill FA, Owen MJ, Walsh D, Weinberger DR, Sun C, Flint J, Darvasi A. Genome-wide association identifies a ...

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The psychosis susceptibility gene ZNF804A: associations, functions, and phenotypes

The psychosis susceptibility gene ZNF804A: associations, functions, and phenotypes

... this gene increases illness liability, whether by effects on DNA transcription regulation or downstream involve- ment in pathways critical to embryonic brain develop- ment or some other ...

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Psychosis Susceptibility Gene ZNF804A and Cognitive Performance in Schizophrenia

Psychosis Susceptibility Gene ZNF804A and Cognitive Performance in Schizophrenia

... Association between ZNF804A and SZ both allelic and by genotype in the German samples according to general cognitive ability... Changes in associated odds ratios for ZNF804A and SZ accor[r] ...

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Characterization of ovarian clear cell carcinoma using target drug-based molecular biomarkers: implications for personalized cancer therapy

Characterization of ovarian clear cell carcinoma using target drug-based molecular biomarkers: implications for personalized cancer therapy

... cancer susceptibility gene 1 (BRCA1), breast cancer susceptibility gene 2 (BRCA2) and programmed death-ligand 1 (PD-L1) were measured in 96 ovarian CCC and 113 HGSC by immunohistochemistry in ...

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Common and low Frequency variants in MERTK are independently associated with multiple sclerosis susceptibility with discordant association dependent upon HLA-DRB1*15:01 status

Common and low Frequency variants in MERTK are independently associated with multiple sclerosis susceptibility with discordant association dependent upon HLA-DRB1*15:01 status

... MS susceptibility loci are carefully investigated to identify the biological mechanism linking genetic polymorphism at a given gene to the increased chance of developing ...MS susceptibility ...

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Original Article Genetic association between CARD9 variants and inflammatory bowel disease was not replicated in a Chinese Han population

Original Article Genetic association between CARD9 variants and inflammatory bowel disease was not replicated in a Chinese Han population

... possible susceptibility gene for IBD by Zhernakova et ...CARD9 gene in 288 IBD patients (232 CD subgroups and 56 UC subgroups) and 274 normal controls in Chinese Han ...

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Association of the polymorphism in NUCB2 gene and the risk of type 2 diabetes

Association of the polymorphism in NUCB2 gene and the risk of type 2 diabetes

... NUCB2 gene was found to be correlated with obesity [7, ...NUCB2 gene may be also correlated with the risk of developing ...NUCB2 gene was associated with a decreased risk of developing ...a ...

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Pediatric asthma and autism—genomic perspectives

Pediatric asthma and autism—genomic perspectives

... 3) gene as a novel susceptibility locus for early life childhood asthma with severe exacerbations ...This gene is highly expressed in airway epithelium and encodes a calcium- dependent cell adhesion ...

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Gene-nutrient interactions and susceptibility to human obesity

Gene-nutrient interactions and susceptibility to human obesity

... obesity susceptibility gene variants inter- acting with an obesogenic environment to increase obes- ity, James ...of gene variants has occurred dur- ing human evolution to optimize efficient storage ...

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Some Molecular and Clinical Aspects of Genetic Predisposition to Malignant Melanoma and Tumours of Various Site of Origin

Some Molecular and Clinical Aspects of Genetic Predisposition to Malignant Melanoma and Tumours of Various Site of Origin

... There have been 77 causative CDKN2A variants listed in the international melanoma mutation database, eMelanoBase. CDKN2A (OMIM 60160) was the first to be associated with MM risk and is regarded as the major MM ...

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THE USE OF SNPS IN PHARMACOGENOMICS STUDIES

THE USE OF SNPS IN PHARMACOGENOMICS STUDIES

... individual’s susceptibility to various illnesses and response to ...candidate gene or Linkage disequilibrium (LD) mapping ...candidate gene approach does offer several advantages over LD ...and ...

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The Association of SERPINE2 Gene with COPD in a Chinese Han Population

The Association of SERPINE2 Gene with COPD in a Chinese Han Population

... The SERPINE2 gene belongs to the serpin family of pro- teins as well as α1-antitrypsin. It is composed of nine ex- ons, which encode a 44-kD protein that is a thrombin, plas- min and urokinase inhibitor and plays ...

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Prevalence assessment of magA gene and antimicrobial susceptibility of Klebsiella pneumoniae isolated from clinical specimens in Shahrekord, Iran.

Prevalence assessment of magA gene and antimicrobial susceptibility of Klebsiella pneumoniae isolated from clinical specimens in Shahrekord, Iran.

... enzyme units Taq DNA polymerase in 25 µl reaction mixture with deionized water (DW). The thermocy- cler program was adjusted as: initial denaturation at 95 °C for 5 min followed by 40 cycles of denaturation at 95 °C for ...

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Reduction in breast cancer susceptibility due to XbaI gene polymorphism of alpha estrogen receptor gene in Jordanians

Reduction in breast cancer susceptibility due to <em>XbaI</em> gene polymorphism of alpha estrogen receptor gene in Jordanians

... Abstract: Breast cancer is a global health concern among women worldwide. Estrogen recep- tor alpha (ERα) mediates diverse polymorphic effects in breast tissues that may relate to breast cancer susceptibility. The ...

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SNPs in FNDC5 (irisin) are associated with obesity and modulation of glucose and lipid metabolism in Saudi subjects

SNPs in FNDC5 (irisin) are associated with obesity and modulation of glucose and lipid metabolism in Saudi subjects

... fibroblast growth factor 21 (FGF21), expressed within the liver, and enhances hepatic lipid oxidation and blood TG clearance [19]. It has also been reported that circu- lating irisin levels are associated with serum TG, ...

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Associations between twelve common gene polymorphisms and susceptibility to hepatocellular carcinoma: evidence from a meta analysis

Associations between twelve common gene polymorphisms and susceptibility to hepatocellular carcinoma: evidence from a meta analysis

... 34. Teixeira AC, Mendes CT Jr, Marano LA, Deghaide NH, Secaf M, Elias J Jr, Muglia V, Donadi EA, Martinelli AL. Alleles and genotypes of polymorphisms of IL-18, TNF- α and IFN- γ are associated with a higher risk and ...

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Gene-gene interactions in gastrointestinal cancer susceptibility

Gene-gene interactions in gastrointestinal cancer susceptibility

... showing gene-gene interactions, also known as epistases, affecting genetic susceptibility in colorectal, gastric and esophageal ...22 gene variation pairs displayed all levels of statistical ...

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The NCAN gene: schizophrenia susceptibility and cognitive dysfunction

The <em>NCAN</em> gene: schizophrenia susceptibility and cognitive dysfunction

... To the best of our knowledge, no genetic study to date has addressed the association between NCAN and schizo- phrenia in Han Chinese. Building on this premise, we aimed to explore whether NCAN rs1064395 confers some risk ...

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The frequency of follicle stimulating hormone receptor gene polymorphisms in Iranian infertile men with azoospermia

The frequency of follicle stimulating hormone receptor gene polymorphisms in Iranian infertile men with azoospermia

... FSHR gene on male ...FSHR gene might affect male reproductive parameter ...causing susceptibility to male infertility ...receptor gene were not a common cause of infertility in azoospermic ...

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