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dc.contributor.authorVoskarides, Konstantinosen
dc.contributor.authorPierides, Alkis M.en
dc.contributor.authorConstantinou-Deltas, Constantinos D.en
dc.date.accessioned2019-11-04T12:52:52Z
dc.date.available2019-11-04T12:52:52Z
dc.date.issued2008
dc.identifier.urihttp://gnosis.library.ucy.ac.cy/handle/7/53445
dc.description.abstractThe 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 filtration barrier. Recently described mutations in collagen IV and laminin in patients with hematuria and severe nephrotic syndrome add to other experimental data supporting the hypothesis that the glomerular basement membrane (GBM) may also have a significant role in protein filtration, a function previously attributed exclusively to the podocytes. Collagen IV heterozygous mutations were thought to cause only a mild form of renal disease (thin basement membrane nephropathy - TBMN). However, data from our laboratory show that many patients who carry such mutations may later on in life develop focal and segmental glomerulosclerosis, on top of the TBMN and the microscopic hematuria, a situation that frequently progresses to chronic renal failure or even end-stage renal disease. The role of unknown modifier genes may explain the heterogeneity of symptoms in TBMN and other glomerular diseases and in particular the selected development of chronic renal failure. The molecular communication between GBM and podocytes may also be a key factor in the search for these major genetic modifiers while their understanding may improve novel drug design for glomerular diseases.en
dc.sourceConnective tissue researchen
dc.source.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-48549093189&doi=10.1080%2f03008200802148280&partnerID=40&md5=f8bd67263f3ff6df095e4ad8e6c7a955
dc.subjectarticleen
dc.subjecthumanen
dc.subjectHumansen
dc.subjectAgingen
dc.subjectpathogenesisen
dc.subjectdisease severityen
dc.subjectAutoantigensen
dc.subjecthematuriaen
dc.subjectkidney diseaseen
dc.subjectdisease predispositionen
dc.subjectphenotypeen
dc.subjectAnimalsen
dc.subjectMiceen
dc.subjectgene mutationen
dc.subjectheterozygosityen
dc.subjectMutationen
dc.subjectsymptomen
dc.subjectcollagen type 4en
dc.subjectKidney Diseasesen
dc.subjectchronic kidney failureen
dc.subjectCollagen Type IVen
dc.subjectKidney Failure, Chronicen
dc.subjectglomerulus basement membraneen
dc.subjectfocal glomerulosclerosisen
dc.subjectGlomerular Basement Membraneen
dc.subjectNephritis, Hereditaryen
dc.subjectGlomerulosclerosis, Focal Segmentalen
dc.subjectbasement membraneen
dc.subjectFSGSen
dc.subjectTBMNen
dc.subjectpodocyteen
dc.subjectPodocytesen
dc.subjectCOL4A3/COL4A4 Mutationsen
dc.subjectcollagen type 4 alpha3en
dc.subjectcollagen type 4 alpha4en
dc.subjectGlomerular Filtration Barrieren
dc.subjectglomerulus epitheliumen
dc.subjectglomerulus filtrationen
dc.subjectModifier Genesen
dc.titleCOL4A3/COL4A4 mutations link familial hematuria and focal segmental glomerulosclerosis. Glomerular epithelium destruction via basement membrane thinning?en
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.1080/03008200802148280
dc.description.volume49
dc.description.startingpage283
dc.description.endingpage288
dc.type.uhtypeArticleen
dc.source.abbreviationConnect.Tissue Res.en


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