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dc.contributor.authorKoptides, Michaelen
dc.contributor.authorHadjimichael, C.en
dc.contributor.authorKoupepidou, P.en
dc.contributor.authorPierides, Alkis M.en
dc.contributor.authorConstantinou-Deltas, Constantinos D.en
dc.creatorKoptides, Michaelen
dc.creatorHadjimichael, C.en
dc.creatorKoupepidou, P.en
dc.creatorPierides, Alkis M.en
dc.creatorConstantinou-Deltas, Constantinos D.en
dc.date.accessioned2019-11-04T12:52:12Z
dc.date.available2019-11-04T12:52:12Z
dc.date.issued1999
dc.identifier.urihttp://gnosis.library.ucy.ac.cy/handle/7/53190
dc.description.abstractAutosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in one of three genes: PKD1 on chromosome 16 accounts for ~85% of cases whereas PKD2 on chromosome 4 accounts for ~15%. Mutations in the PKD3 gene are rare. All patients present with similar clinical phenotypes, and the cardinal symptom is the formation of fluid-filled cysts in the kidneys. Previous work has provided data supporting the notion that cysts in ADPKD1 are focal in nature and form after loss of function of polycystin 1. This became evident by demonstrating that the normal PKD1 allele was inactivated somatically by loss of heterozygosity or by mutagenesis in a subset of renal or liver cysts examined. We show in this report, for the first time, multiple novel somatic mutations within the PKD2 gene of epithelial cells, in both kidneys of an ADPKDS patient. From a total of 21 cysts examined, seven (33%) had the same C insertion within the inherited wild-type allele. In two other cysts, a nonsense mutation and a splice site AG deletion had occurred in a PKD2 allele that could not be identified as the inherited wild-type or mutant. We suggest that the autosomal dominant form of ADPKD2 occurs by a cellular recessive mechanism, supporting a two-hit model for cyst formation.en
dc.sourceHuman molecular geneticsen
dc.source.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-0032977495&partnerID=40&md5=3e82dc971b9634e3184c955aa0a3d319
dc.subjectarticleen
dc.subjectFemaleen
dc.subjecthumanen
dc.subjectAgeden
dc.subjectHumansen
dc.subjectcontrolled studyen
dc.subjectpriority journalen
dc.subjectkidney polycystic diseaseen
dc.subjectmaleen
dc.subjectLoss of Heterozygosityen
dc.subjectcase reporten
dc.subjectsomatic mutationen
dc.subjecthuman cellen
dc.subjectBase Sequenceen
dc.subjectDNAen
dc.subjectgene mutationen
dc.subjectMutationen
dc.subjectMembrane Proteinsen
dc.subjectPedigreeen
dc.subjectPolycystic Kidney, Autosomal Dominanten
dc.subjectpolycystinen
dc.subjectPolymorphism, Single-Stranded Conformationalen
dc.subjectTRPP Cation Channelsen
dc.subjectautosomal dominant disorderen
dc.subjectGerm-Line Mutationen
dc.subjectgerm lineen
dc.subjectkidney epitheliumen
dc.subjectnonsense mutationen
dc.titleGerminal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney diseaseen
dc.typeinfo:eu-repo/semantics/article
dc.description.volume8
dc.description.startingpage509
dc.description.endingpage513
dc.author.facultyΣχολή Θετικών και Εφαρμοσμένων Επιστημών / Faculty of Pure and Applied Sciences
dc.author.departmentΤμήμα Βιολογικών Επιστημών / Department of Biological Sciences
dc.type.uhtypeArticleen
dc.description.notes<p>Cited By :70</p>en
dc.source.abbreviationHum.Mol.Genet.en
dc.contributor.orcidConstantinou-Deltas, Constantinos D. [0000-0001-5549-9169]
dc.gnosis.orcid0000-0001-5549-9169


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