dc.contributor.author | Mochizuki, Toshio | en |
dc.contributor.author | Wu, G. | en |
dc.contributor.author | Hayashi, Tomohito | en |
dc.contributor.author | Xenophontos, Stavroulla L. | en |
dc.contributor.author | Veldhuisen, B. | en |
dc.contributor.author | Saris, J. J. | en |
dc.contributor.author | Reynolds, D. M. | en |
dc.contributor.author | Cai, Y. | en |
dc.contributor.author | Gabow, P. A. | en |
dc.contributor.author | Pierides, Alkis M. | en |
dc.contributor.author | Kimberling, W. J. | en |
dc.contributor.author | Breuning, M. H. | en |
dc.contributor.author | Constantinou-Deltas, Constantinos D. | en |
dc.contributor.author | Peters, D. J. M. | en |
dc.contributor.author | Somlo, Stefan | en |
dc.creator | Mochizuki, Toshio | en |
dc.creator | Wu, G. | en |
dc.creator | Hayashi, Tomohito | en |
dc.creator | Xenophontos, Stavroulla L. | en |
dc.creator | Veldhuisen, B. | en |
dc.creator | Saris, J. J. | en |
dc.creator | Reynolds, D. M. | en |
dc.creator | Cai, Y. | en |
dc.creator | Gabow, P. A. | en |
dc.creator | Pierides, Alkis M. | en |
dc.creator | Kimberling, W. J. | en |
dc.creator | Breuning, M. H. | en |
dc.creator | Constantinou-Deltas, Constantinos D. | en |
dc.creator | Peters, D. J. M. | en |
dc.creator | Somlo, Stefan | en |
dc.date.accessioned | 2019-11-04T12:52:22Z | |
dc.date.available | 2019-11-04T12:52:22Z | |
dc.date.issued | 1996 | |
dc.identifier.uri | http://gnosis.library.ucy.ac.cy/handle/7/53253 | |
dc.description.abstract | A 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.source | Science | en |
dc.source.uri | https://www.scopus.com/inward/record.uri?eid=2-s2.0-15844385078&partnerID=40&md5=aed39237b982293f3de3536800d7076a | |
dc.subject | article | en |
dc.subject | Female | en |
dc.subject | Male | en |
dc.subject | human | en |
dc.subject | Humans | en |
dc.subject | controlled study | en |
dc.subject | priority journal | en |
dc.subject | human tissue | en |
dc.subject | kidney polycystic disease | en |
dc.subject | amino acid sequence | en |
dc.subject | gene product | en |
dc.subject | Animals | en |
dc.subject | Base Sequence | en |
dc.subject | Molecular Sequence Data | en |
dc.subject | Mutation | en |
dc.subject | Membrane Proteins | en |
dc.subject | membrane protein | en |
dc.subject | fetus | en |
dc.subject | carboxy terminal sequence | en |
dc.subject | protein domain | en |
dc.subject | amino terminal sequence | en |
dc.subject | Proteins | en |
dc.subject | Phenotype | en |
dc.subject | Pedigree | en |
dc.subject | Cloning, Molecular | en |
dc.subject | Polycystic Kidney, Autosomal Dominant | en |
dc.subject | Polymorphism, Single-Stranded Conformational | en |
dc.subject | TRPP Cation Channels | en |
dc.subject | Chromosome Mapping | en |
dc.subject | Consensus Sequence | en |
dc.subject | molecular cloning | en |
dc.subject | Chromosomes, Human, Pair 4 | en |
dc.subject | Caenorhabditis elegans | en |
dc.subject | nonsense mutation | en |
dc.subject | calcium channel | en |
dc.subject | Calcium Channels | en |
dc.subject | Crystallography, X-Ray | en |
dc.subject | gene isolation | en |
dc.subject | Glycosylation | en |
dc.subject | sodium channel | en |
dc.subject | Sodium Channels | en |
dc.title | PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein | en |
dc.type | info:eu-repo/semantics/article | |
dc.description.volume | 272 | |
dc.description.startingpage | 1339 | |
dc.description.endingpage | 1342 | |
dc.author.faculty | Σχολή Θετικών και Εφαρμοσμένων Επιστημών / Faculty of Pure and Applied Sciences | |
dc.author.department | Τμήμα Βιολογικών Επιστημών / Department of Biological Sciences | |
dc.type.uhtype | Article | en |
dc.source.abbreviation | Science | en |
dc.contributor.orcid | Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169] | |
dc.gnosis.orcid | 0000-0001-5549-9169 | |