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dc.contributor.authorKoptides, Michaelen
dc.contributor.authorMean, R.en
dc.contributor.authorStavrou, Christoforos V.en
dc.contributor.authorPierides, Alkis M.en
dc.contributor.authorDemetriou, Kyproulaen
dc.contributor.authorNakayama, T.en
dc.contributor.authorHildebrandt, F.en
dc.contributor.authorFuchshuber, A.en
dc.contributor.authorConstantinou-Deltas, Constantinos D.en
dc.date.accessioned2019-11-04T12:52:12Z
dc.date.available2019-11-04T12:52:12Z
dc.date.issued2001
dc.identifier.urihttp://gnosis.library.ucy.ac.cy/handle/7/53193
dc.description.abstractAutosomal dominant medullary cystic kidney disease (ADMCKD) is an adult-onset heterogeneous genetic nephropathy characterized by salt wasting and end-stage renal failure. The gene responsible for ADMCKD-1 was mapped on chromosome 1 q21 and it is flanked proximally by marker D1S498 and distally by D1S2125, encompassing a region of ∼8 CM. Within this region there are a large number of transcribed genes including NPR1 that encodes the atrial natriuretic peptide receptor 1. This receptor plays a crucial role in regulation of blood pressure by facilitating salt excretion. Based on its function we hypothesized this gene as a reasonable candidate for the MCKD1 locus. DNA mutation screening was performed on the entire NPR1 gene-coding sequence and some of the 5′-UTR and 3′-UTR sequences. The samples investigated belonged to patients of five large ADMCKD-1 Cypriot families. The screening revealed two novel polymorphisms, one intragenic at amino acid position 939, which was occupied by either arginine or glutamine, and a second one located in the 3′-UTR, 29 nucleotides downstream of the NPR1 stop codon. The latter was a single nucleotide C insertion/deletion in a stretch of three or four Cs. No relationship was present between any allele of the two polymorphisms and the disease, as both alleles were observed in both affected and healthy subjects. In addition, no association was observed between the disease and another rare 8-bp deletion polymorphism at the 5′-UTR of NPR1 and the disease. Based on these findings it is unlikely that NPR1 is the same as the MCKD1 gene, although it is presently unknown whether it plays a disease modifying role. © 2001 Academic Press.en
dc.sourceMolecular and cellular probesen
dc.source.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-0035722095&doi=10.1006%2fmcpr.2001.0381&partnerID=40&md5=5e8a771e7118306925bd5f7b7fbcdca4
dc.subjectCyprusen
dc.subjectarticleen
dc.subjectAdulten
dc.subjecthumanen
dc.subjectHumansen
dc.subjectmajor clinical studyen
dc.subjectpriority journalen
dc.subject3' untranslated regionen
dc.subjectalleleen
dc.subjectDNA polymorphismen
dc.subjectHypertensionen
dc.subjectunclassified drugen
dc.subjecthuman cellen
dc.subjectglutamineen
dc.subjectDNAen
dc.subjectgene sequenceen
dc.subjectmutational analysisen
dc.subjectgene deletionen
dc.subjectPolymorphismsen
dc.subjectgene functionen
dc.subjectkidney failureen
dc.subjectarginineen
dc.subjectgene locusen
dc.subjectgene insertionen
dc.subjectPolymorphism, Geneticen
dc.subjectSequence Analysis, DNAen
dc.subjectamino acid substitutionen
dc.subjectmedullary sponge kidneyen
dc.subjectPolycystic Kidney, Autosomal Dominanten
dc.subjectchromosome 1qen
dc.subjectmarker geneen
dc.subjectsalt losing nephritisen
dc.subjectautosomal dominant disorderen
dc.subjectonset ageen
dc.subject3' Untranslated Regionsen
dc.subjectgene mappingen
dc.subject5' untranslated regionen
dc.subjectatrial natriuretic factor receptoren
dc.subjectatrial natriuretic factor receptor 1en
dc.subjectblood pressure regulationen
dc.subjectCystic kidneysen
dc.subjectDNA screeningen
dc.subjectGenes, Dominanten
dc.subjectGuanylate Cyclaseen
dc.subjectHypotensionen
dc.subjectinsertion sequencesen
dc.subjectMCKD1en
dc.subjectNPR1en
dc.subjectReceptors, Atrial Natriuretic Factoren
dc.subjectsodium excretionen
dc.subjectstop codonen
dc.titleNovel NPR1 polymorphic variants and its exclusion as a candidate gene for medullary cystic kidney disease (ADMCKD) type 1en
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.1006/mcpr.2001.0381
dc.description.volume15
dc.description.startingpage357
dc.description.endingpage361
dc.type.uhtypeArticleen
dc.description.notes<p>Cited By :4</p>en
dc.source.abbreviationMol.Cell.Probesen


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