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PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein

dc.contributor.authorMochizuki, Toshioen
dc.contributor.authorWu, G.en
dc.contributor.authorHayashi, Tomohitoen
dc.contributor.authorXenophontos, Stavroulla L.en
dc.contributor.authorVeldhuisen, B.en
dc.contributor.authorSaris, J. J.en
dc.contributor.authorReynolds, D. M.en
dc.contributor.authorCai, Y.en
dc.contributor.authorGabow, P. A.en
dc.contributor.authorPierides, Alkis M.en
dc.contributor.authorKimberling, W. J.en
dc.contributor.authorBreuning, M. H.en
dc.contributor.authorConstantinou-Deltas, Constantinos D.en
dc.contributor.authorPeters, D. J. M.en
dc.contributor.authorSomlo, Stefanen
dc.creatorMochizuki, Toshioen
dc.creatorWu, G.en
dc.creatorHayashi, Tomohitoen
dc.creatorXenophontos, Stavroulla L.en
dc.creatorVeldhuisen, B.en
dc.creatorSaris, J. J.en
dc.creatorReynolds, D. M.en
dc.creatorCai, Y.en
dc.creatorGabow, P. A.en
dc.creatorPierides, Alkis M.en
dc.creatorKimberling, W. J.en
dc.creatorBreuning, M. H.en
dc.creatorConstantinou-Deltas, Constantinos D.en
dc.creatorPeters, D. J. M.en
dc.creatorSomlo, Stefanen
dc.date.accessioned2019-11-04T12:52:22Z
dc.date.available2019-11-04T12:52:22Z
dc.date.issued1996
dc.identifier.urihttp://gnosis.library.ucy.ac.cy/handle/7/53253
dc.description.abstractA second gene for autosomal dominant polycystic kidney disease was identified by positional cloning. Nonsense mutations in this gene (PKD2) segregated with the disease in three PKD2 families. The predicted 968-amino acid sequence of the PKD2 gene product has six transmembrane spans with intracellular amino- and carboxyl-termini. The PKD2 protein has amino acid similarity with PKD1, the Caenorhabditis elegans homolog of PKD1, and the family of voltage-activated calcium (and sodium) channels, and it contains a potential calcium-binding domain.en
dc.sourceScienceen
dc.source.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-15844385078&partnerID=40&md5=aed39237b982293f3de3536800d7076a
dc.subjectarticleen
dc.subjectFemaleen
dc.subjectMaleen
dc.subjecthumanen
dc.subjectHumansen
dc.subjectcontrolled studyen
dc.subjectpriority journalen
dc.subjecthuman tissueen
dc.subjectkidney polycystic diseaseen
dc.subjectamino acid sequenceen
dc.subjectgene producten
dc.subjectAnimalsen
dc.subjectBase Sequenceen
dc.subjectMolecular Sequence Dataen
dc.subjectMutationen
dc.subjectMembrane Proteinsen
dc.subjectmembrane proteinen
dc.subjectfetusen
dc.subjectcarboxy terminal sequenceen
dc.subjectprotein domainen
dc.subjectamino terminal sequenceen
dc.subjectProteinsen
dc.subjectPhenotypeen
dc.subjectPedigreeen
dc.subjectCloning, Molecularen
dc.subjectPolycystic Kidney, Autosomal Dominanten
dc.subjectPolymorphism, Single-Stranded Conformationalen
dc.subjectTRPP Cation Channelsen
dc.subjectChromosome Mappingen
dc.subjectConsensus Sequenceen
dc.subjectmolecular cloningen
dc.subjectChromosomes, Human, Pair 4en
dc.subjectCaenorhabditis elegansen
dc.subjectnonsense mutationen
dc.subjectcalcium channelen
dc.subjectCalcium Channelsen
dc.subjectCrystallography, X-Rayen
dc.subjectgene isolationen
dc.subjectGlycosylationen
dc.subjectsodium channelen
dc.subjectSodium Channelsen
dc.titlePKD2, a gene for polycystic kidney disease that encodes an integral membrane proteinen
dc.typeinfo:eu-repo/semantics/article
dc.description.volume272
dc.description.startingpage1339
dc.description.endingpage1342
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.source.abbreviationScienceen
dc.contributor.orcidConstantinou-Deltas, Constantinos D. [0000-0001-5549-9169]
dc.gnosis.orcid0000-0001-5549-9169


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