Browsing by Subject "allele"
Now showing items 1-20 of 23
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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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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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Emergence of Minor Populations of Human Immunodeficiency Virus Type 1 Carrying the M184V and L90M Mutations in Subjects Undergoing Structured Treatment Interruptions
(2003)The use of structured treatment interruption (STI) in human immunodeficiency virus (HIV)-infected subjects is currently being studied as an alternative therapeutic strategy for HIV-1. The potential risk for selection of ...
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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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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 ...
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A miR-1207-5p binding site polymorphism abolishes regulation of HBEGF and is associated with disease severity in CFHR5 nephropathy
(2012)Heparin binding epidermal growth factor (HBEGF) is expressed in podocytes and was shown to play a role in glomerular physiology. MicroRNA binding sites on the 3′UTR of HBEGF were predicted using miRWalk algorithm and ...
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Novel NPR1 polymorphic variants and its exclusion as a candidate gene for medullary cystic kidney disease (ADMCKD) type 1
(2001)Autosomal dominant medullary cystic kidney disease (ADMCKD) is an adult-onset heterogeneous genetic nephropathy characterized by salt wasting and end-stage renal failure. The gene responsible for ADMCKD-1 was mapped on ...
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Spectral genotyping of human alleles
(1998)
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Spectrum and prevalence of prothrombotic single nucleotide polymorphism profiles in the Greek Cypriot population
(2002)Background. This study was performed to establish the allele, genotype and genotype combination/SNP (single nucleotide polymorphism) profile frequencies in the general population of Cyprus for 6 genes implicated in thrombotic ...
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Type 2 diabetes susceptibility in the Greek-Cypriot population: Replication of associations with TCF7L2, FTO, HHEX, SLC30A8 and IGF2BP2 polymorphisms
(2017)Type 2 diabetes (T2D) has been the subject of numerous genetic studies in recent years which revealed associations of the disease with a large number of susceptibility loci. We hereby initiate the evaluation of T2D ...