Browsing by Subject "Alleles"
Now showing items 1-20 of 33
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Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4-11
(Hindawi Limited, 2014)We report a classic cystic fibrosis (CF) boy with a large deletion of exons 4-11 in the cystic fibrosis transmembrane conductance regulator (CFTR) gene on one allele and p.Phe508del in exon 10 on the second allele. Both ...
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The association between plasminogen activator inhibitor type 1 (PAI-1) levels, PAI-1 4G/5G polymorphism, and myocardial infarction: A mendelian randomization meta-analysis
(2014)Background: The circulating levels of plasminogen activator inhibitor type 1 (PAI-1) are increased in individuals carrying the 4G allele at position -675 of the PAI-1 gene. In turn, overexpression of PAI-1 has been found ...
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Cellular HIV-1 DNA levels in drug sensitive strains are equivalent to those in drug resistant strains in newly-diagnosed patients in Europe
(2010)Background HIV-1 genotypic drug resistance is an important threat to the success of antiretroviral therapy and transmitted resistance has reached 9% prevalence in Europe. Studies have demonstrated that HIV-1 DNA load in ...
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A chemokine receptor CCR2 allele delays HIV-1 disease progression and is associated with a CCR5 promoter mutation
(1998)Viral and host factors influence the rate of HIV-1 disease progression. For HIV-1 to fuse, a CD4+ cell must express a co-receptor that the virus can use. The chemokine receptors CCR5 and CXCR4 are used by R5 and X4 viruses, ...
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Co-Inheritance of Functional Podocin Variants with Heterozygous Collagen IV Mutations Predisposes to Renal Failure
(2015)BACKGROUND/AIMS: A subset of patients who present with proteinuria and are diagnosed with focal segmental glomerulosclerosis (FSGS) have inherited heterozygous COL4A3/A4 mutations and are also diagnosed with thin basement ...
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Cystic diseases of the kidney molecular biology and genetics
(2010)Context.-Cystic diseases of the kidney are a very heterogeneous group of renal inherited conditions, with more than 33 genes involved and encompassing Xlinked, autosomal dominant, and autosomal recessive inheritance. ...
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Cytokine gene polymorphisms in periodontal disease: A meta-analysis of 53 studies including 4178 cases and 4590 controls
(2008)Aim: We conducted a systematic review and a meta-analysis, in order to investigate the potential association of cytokine gene polymorphisms with either aggressive or chronic periodontal disease. Material and Methods: A ...
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Delta-like and Gtl2 are reciprocally expressed differentially methylated linked imprinted genes on mouse chromosome 12
(2000)The distal portion of mouse chromosome 12 is imprinted. To date, however, Gtl2 is the only imprinted gene identified on chromosome 12. Gtl2 encodes multiple alternatively spliced transcripts with no apparent open reading ...
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Effects of CCR5-Δ32, CCR2-64I, and SDF-1 3′ a alleles on HIV-1 disease progression: An international meta-analysis of individual-patient data
(2001)Background: Studies relating certain chemokine and chemokine receptor gene alleles with the outcome of HIV-1 infection have yielded inconsistent results. Objective: To examine postulated associations of genetic alleles ...
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Epistatic Role of the MYH9/APOL1 Region on Familial Hematuria Genes
(2013)Familial hematuria (FH) is explained by at least four different genes (see below). About 50% of patients develop late proteinuria and chronic kidney disease (CKD). We hypothesized that MYH9/APOL1, two closely linked genes ...
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Evidence for association of endothelial cell nitric oxide synthase gene polymorphism with earlier progression to end-stage renal disease in a cohort of Hellens from Greece and Cyprus
(2004)Nitric oxide (NO) is thought to be an important factor in the deterioration of renal function. A variable-number tandem 27-bp repeat in intron 4 of the endothelial cell nitric oxide synthase (NOS3) gene has been found to ...
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Evidence for recent selection of the CCR5-Δ32 deletion from differences in its frequency between Ashkenazi and Sephardi Jews
(2000)Recent studies have shown higher frequencies of the CCR5-Δ32 allele and the CCR5-A32/Δ32 genotype, which confers protection against HIV infection, in northern Europe as compared to Mediterranean countries. Here, we analyse ...
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Evidence that NPHS2-R229Q predisposes to proteinuria and renal failure in familial hematuria
(2012)Background Familial hematuria (FH) is associated with at least two pathological entities: Thin basement membrane nephropathy (TBMN), caused by heterozygous COL4A3/ COL4A4 mutations, and C3 nephropathy caused by CFHR5 ...
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Global distribution of the CCR2-641/CCR5-59653T HIV-1 disease-protective haplotype
(2000)Objectives: Several natural polymorphisms in the genes for the human CC-chemokine receptors CCR5 and CCR2 are associated with HIV-1 disease. The CCR2-641 genetic variant [a G to A substitution resulting in a valine (V) to ...
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Greek Cypriot allele and genotype frequencies for amplitype® PM-DQA1 and D1S80 loci
(1998)A sample from the Greek Cypriot population was typed at seven forensically important PCR-based loci: LDLR, GYPA, HBGG, D7S8, GC, HLA-DQA1, and D1S80. The results showed that all loci meet Hardy-Weinberg expectations and ...
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HIV-specific cytotoxic T lymphocytes, HLA-A11, and chemokine-related factors may act synergistically to determine HIV resistance in CCR5 Δ32-negative female sex workers in Chiang Rai, northern Thailand
(2001)Understanding how highly HIV-exposed individuals remain HIV uninfected may be useful for HIV vaccine design and development of new HIV prevention strategies. To elucidate mechanisms associated with resistance to HIV ...
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The impact of human allelic variation on HIV-1 disease.
(2003)Human allelic variants influence the susceptibility to HIV-1 infection and/or the subsequent rates of disease progression towards AIDS that average ten years, although they vary greatly among infected subjects. In this ...