Browsing by Subject "disease predisposition"
Now showing items 1-6 of 6
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COL4A3/COL4A4 mutations link familial hematuria and focal segmental glomerulosclerosis. Glomerular epithelium destruction via basement membrane thinning?
(2008)The recent description of multiple gene defects in hereditary podocytopathies and in hereditary glomerular basement membrane diseases has dramatically improved the current state of our knowledge on the renal glomerular ...
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Crossreactivity to vinculin and microbes provides a molecular basis for HLA-based protection against rheumatoid arthritis
(2015)The HLA locus is the strongest risk factor for anti-citrullinated protein antibody (ACPA) + rheumatoid arthritis (RA). Despite considerable efforts in the last 35 years, this association is poorly understood. Here we ...
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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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Human pathogenic bacteria, fungi, and viruses in Drosophila
(2014)Drosophila has been the invertebrate model organism of choice for the study of innate immune responses during the past few decades. Many Drosophila-microbe interaction studies have helped to define innate immunity pathways, ...
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Prevalence of genetic mutations that predispose to thrombophilia in a Greek Cypriot population
(2000)Several hereditary disorders, particularly those affecting the physiological anticoagulation systems, have been well established as risk factors for venous thromboembolism. In the present study, we investigated the prevalence ...
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Article
Spectral genotyping of human alleles
(1998)