Analysis of TSHZ2 and TSHZ3 genes in congenital pelvi-ureteric junction obstruction

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dc.contributor.authorJenkins, Dagan
dc.contributor.authorCaubit, Xavier
dc.contributor.authorDimovski, Aleksandar
dc.contributor.authorMatevska, Nadica
dc.contributor.authorLye, Claire M.
dc.contributor.authorCabuk, Feryal
dc.contributor.authorWoolf, Adrian S.
dc.date.accessioned2020-06-25T17:51:29Z
dc.date.available2020-06-25T17:51:29Z
dc.date.issued2010
dc.departmentKırıkkale Üniversitesi
dc.descriptionTasic, Velibor/0000-0002-3377-1245; Woolf, Adrian/0000-0001-5541-1358; Matevska-Geshkovska, Nadica/0000-0001-6222-8973; Lye, Claire/0000-0001-9759-3700
dc.description.abstractMethods. Given the phenotype of Tshz3 mutant mice, we considered that Teashirt genes, which code for a family of transcription factors, might represent candidate genes for human PUJO. To evaluate this possibility, we used in situ hydridization to analyse the three mammalian Tshz genes in mouse embryonic ureters and determined whether TSHZ3 was expressed in the human embryonic ureter. TSHZ2 and TSHZ3 were sequenced in index cases with non-syndromic PUJO. Results. Tshz2 and Tshz3 genes were detected in mouse ureters and TSHZ3 was expressed in the human embryonic renal pelvis. Direct sequencing of TSHZ2 and TSHZ3 did not identify any mutations in an initial cohort of 48 PUJO index cases, excluding these genes as a major cause of this condition. A polymorphic missense change (E469G) in TSHZ3 was identified at a residue highly conserved throughout evolution in all Teashirt proteins, although subsequently no significant difference between the E469G allele frequency in Albanian and Macedonian PUJO index cases (3.2%) versus 633 control individuals (1.7%) was found (P = 0.18). Conclusions. Mutations in TSHZ2 and TSHZ3 are not a major cause of PUJO, at least in Albanian and Macedonian populations. Expression of these genes in the human fetal ureter emphasizes the importance of analysing these genes in other groups of patients with renal tract malformations.en_US
dc.description.sponsorshipMedical Research CouncilMedical Research Council UK (MRC) [G0700089, G9900837]en_US
dc.identifier.citationDagan Jenkins, Xavier Caubit, Aleksandar Dimovski, Nadica Matevska, Claire M. Lye, Feryal Cabuk, Zoran Gucev, Velibor Tasic, Laurent Fasano, Adrian S. Woolf, (2010),Analysis of TSHZ2 and TSHZ3 genes in congenital pelvi-ureteric junction obstruction , Nephrology Dialysis Transplantation, 25(1), 54–60.en_US
dc.identifier.doi10.1093/ndt/gfp453
dc.identifier.endpage60en_US
dc.identifier.issn0931-0509
dc.identifier.issue1en_US
dc.identifier.pmid19745106
dc.identifier.scopus2-s2.0-72949095097
dc.identifier.scopusqualityQ1
dc.identifier.startpage54en_US
dc.identifier.urihttps://doi.org/10.1093/ndt/gfp453
dc.identifier.urihttps://hdl.handle.net/20.500.12587/4876
dc.identifier.volume25en_US
dc.identifier.wosWOS:000273113100013
dc.identifier.wosqualityQ1
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherOxford Univ Pressen_US
dc.relation.ispartofNephrology Dialysis Transplantation
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectpelvi-ureteric junction obstructionen_US
dc.subjectTeashirt genesen_US
dc.titleAnalysis of TSHZ2 and TSHZ3 genes in congenital pelvi-ureteric junction obstructionen_US
dc.typeArticle

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