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PubMed 22028770 APOE genotype-function relationship: evidence of -491 A/T promoter polymorphism modifying transcription control but not type 2 diabetes risk. BACKGROUND: The apolipoprotein E gene (APOE) coding polymo 2.17 KB 2015-11-26 6 5
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PubMed 21879313 Genotype rs8099917 near the IL28B gene and amino acid substitution at position 70 in the core region of the hepatitis C virus are determinants of serum apolipoprotein B-100 concentration in chronic he 1.89 KB 2025-10-02 31 5
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PubMed 20854438 SLURP1 mutation-impaired T-cell activation in a family with mal de Meleda. BACKGROUND: Mal de Meleda (MDM) is palmoplantar erythrokeratoderma with an autosomal recessive inheritance and is caused by a 1.78 KB 2015-11-25 30 7
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PubMed 20529581 A novel point mutation in CD18 causing leukocyte adhesion deficiency in a Chinese patient. BACKGROUND: Leukocyte adhesion deficiency type 1 (LAD-1) is a rare, autosomal recessive inherited immunodefic 1.62 KB 2015-11-25 14 5
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PubMed 20523265 Association study of complement factor H, C2, CFB, and C3 and age-related macular degeneration in a Han Chinese population. PURPOSE: Genes in the complement pathway, including complement factor H (CFH 2.3 KB 2025-10-02 32 15
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PubMed 18272172 A splice site mutation in hERG leads to cryptic splicing in human long QT syndrome. Mutations in the human ether-a-go-go-related gene (hERG) cause type 2 long QT syndrome. In this study, we investigat 1.48 KB 2015-08-06 3 3
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PubMed 18270997 Catechol-O-methyltransferase (COMT) gene variants: possible association of the Val158Met variant with opiate addiction in Hispanic women. Catechol-O-methyltransferase (COMT) catalyzes the breakdown of 1.43 KB 2015-11-24 6 3
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PubMed 17495183 Tenomodulin is associated with obesity and diabetes risk: the Finnish diabetes prevention study. We recently showed that long-term weight reduction changes the gene expression profile of adipose tissu 1.48 KB 2025-10-02 15 10
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PubMed 17003923 Gene polymorphisms implicated in influencing susceptibility to venous and arterial thromboembolism: frequency distribution in a healthy German population. Evolvement and progression of cardiovascular 2.03 KB 2015-11-23 5 9
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PubMed 16838170 Single nucleotide polymorphisms of the HNF4alpha gene are associated with the conversion to type 2 diabetes mellitus: the STOP-NIDDM trial. Hepatocyte nuclear factor 4alpha (HNF4alpha) is a transcript 1.75 KB 2025-10-02 46 10
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