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dc.contributor.authorPapazachariou, Louizaen
dc.contributor.authorDemosthenous, Panayiotaen
dc.contributor.authorPieri, Myrtanien
dc.contributor.authorPapagregoriou, Gregory N.en
dc.contributor.authorSavva, Isavellaen
dc.contributor.authorStavrou, Christoforos V.en
dc.contributor.authorZavros, Michalisen
dc.contributor.authorAthanasiou, Yiannisen
dc.contributor.authorIoannou, Kyriakosen
dc.contributor.authorPatsias, Charalambosen
dc.contributor.authorPanagides, Alexiaen
dc.contributor.authorPotamitis, Costasen
dc.contributor.authorDemetriou, Kyproulaen
dc.contributor.authorPrikis, Mariosen
dc.contributor.authorHadjigavriel, Michalisen
dc.contributor.authorKkolou, Mariaen
dc.contributor.authorLoukaidou, Panayiotaen
dc.contributor.authorPastelli, Androullaen
dc.contributor.authorMichael, Aristosen
dc.contributor.authorLazarou, Akisen
dc.contributor.authorArsali, Mariaen
dc.contributor.authorDamianou, Loukasen
dc.contributor.authorGoutziamani, Ioannaen
dc.contributor.authorSoloukides, Andreas P.en
dc.contributor.authorYioukas, Lakisen
dc.contributor.authorElia, Avraamen
dc.contributor.authorZouvani, Ioannaen
dc.contributor.authorPolycarpou, Polycarposen
dc.contributor.authorPierides, Alkis M.en
dc.contributor.authorVoskarides, Konstantinosen
dc.contributor.authorConstantinou-Deltas, Constantinos D.en
dc.date.accessioned2019-11-04T12:52:27Z
dc.date.available2019-11-04T12:52:27Z
dc.date.issued2014
dc.identifier.issn1932-6203
dc.identifier.urihttp://gnosis.library.ucy.ac.cy/handle/7/53290
dc.description.abstractFamilial glomerular hematuria(s) comprise a genetically heterogeneous group of conditions which include Alport Syndrome (AS) and thin basement membrane nephropathy (TBMN). Here we investigated 57 Greek-Cypriot families presenting glomerular microscopic hematuria (GMH), with or without proteinuria or chronic kidney function decline, but excluded classical AS. We specifically searched the COL4A3/A4 genes and identified 8 heterozygous mutations in 16 families (28,1%). Eight non-related families featured the founder mutation COL4A3-p.(G1334E). Renal biopsies from 8 patients showed TBMN and focal segmental glomerulosclerosis (FSGS). Ten patients (11.5%) reached end-stage kidney disease (ESKD) at ages ranging from 37-69-yo (mean 50,1-yo). Next generation sequencing of the patients who progressed to ESKD failed to reveal a second mutation in any of the COL4A3/A4/A5 genes, supporting that true heterozygosity for COL4A3/A4 mutations predisposes to CRF/ESKD. Although this could be viewed as a milder and late-onset form of autosomal dominant AS, we had no evidence of ultrastructural features or extrarenal manifestations that would justify this diagnosis. Functional studies in cultured podocytes transfected with wild type or mutant COL4A3 chains showed retention of mutant collagens and differential activation of the unfolded protein response (UPR) cascade. This signifies the potential role of the UPR cascade in modulating the final phenotype in patients with collagen IV nephropathies. © 2014 Papazachariou et al.en
dc.sourcePLoS ONEen
dc.source.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-84918832613&doi=10.1371%2fjournal.pone.0115015&partnerID=40&md5=b6af4e63e60b17ac7cd9c759691928c4
dc.subjectGreeceen
dc.subjectchilden
dc.subjecthumanen
dc.subjectHumansen
dc.subjectadulten
dc.subjectageden
dc.subjectcontrolled studyen
dc.subjectfemaleen
dc.subjectmajor clinical studyen
dc.subjectmaleen
dc.subjectpathologyen
dc.subjectkidney dysfunctionen
dc.subjectArticleen
dc.subjectmiddle ageden
dc.subjectAutoantigensen
dc.subjectmetabolismen
dc.subjecthematuriaen
dc.subjectkidney diseaseen
dc.subjectproteinuriaen
dc.subjectphenotypeen
dc.subjecthuman cellen
dc.subjecthigh throughput sequencingen
dc.subjectgenetic predispositionen
dc.subjectgeneticsen
dc.subjectagingen
dc.subjectBase Sequenceen
dc.subjectDNAen
dc.subjectgene mutationen
dc.subjectheterozygosityen
dc.subjectpolymerase chain reactionen
dc.subjectpreschool childen
dc.subjectcollagen type 4en
dc.subjectmutationen
dc.subjectnucleotide sequenceen
dc.subjectDNA sequenceen
dc.subjectsequence analysisen
dc.subjectchronic kidney failureen
dc.subjectCollagen Type IVen
dc.subjectCyprioten
dc.subjectcell cultureen
dc.subjectgenetic transfectionen
dc.subjectSequence Analysis, DNAen
dc.subjectend stage renal diseaseen
dc.subjectKidney Failure, Chronicen
dc.subjectglomerulus basement membraneen
dc.subjectkidney biopsyen
dc.subjectfocal glomerulosclerosisen
dc.subjectGlomerular Basement Membraneen
dc.subjectNephritis, Hereditaryen
dc.subjectthin basement membrane nephropathyen
dc.subjectfamily studyen
dc.subjectautoantigenen
dc.subjectCOL4A3 geneen
dc.subjectGlomerulosclerosis, Focal Segmentalen
dc.subjectCOL4A4 geneen
dc.subjectCOL4A4 protein, humanen
dc.subjectnephritisen
dc.subjectcell lineen
dc.subjectpodocyteen
dc.subjectunfolded protein responseen
dc.subjectHigh-Throughput Nucleotide Sequencingen
dc.subjectPodocytesen
dc.subjecttumstatinen
dc.subjecttype IV collagen alpha3 chainen
dc.titleFrequency of COL4A3/COL4A4 Mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageingen
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.1371/journal.pone.0115015
dc.description.volume9
dc.type.uhtypeArticleen
dc.description.notes<p>Cited By :13</p>en
dc.source.abbreviationPLoS ONEen


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