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dc.contributor.authorGoggolidou, Paraskevi
dc.contributor.authorRichards, Taylor
dc.contributor.authorModarage, Kavindiya
dc.contributor.authorDean, Charlotte
dc.contributor.authorNorman, Jill
dc.contributor.authorWilson, Patricia
dc.date.accessioned2019-09-12T14:30:59Z
dc.date.available2019-09-12T14:30:59Z
dc.date.issued2018-05-18
dc.identifier.citationGoggolidou, P., Richards, T., Modarage, K., Dean, C., Norman, J. and Wilson, P. (2018) Atmin modulates PKHD1 expression and through altered non-canonical wnt/planar cell polarity (pcp) signalling mediates ARPKD severity, Nephrology Dialysis Transplantation, 33(suppl 1), pp. i61-i70.en
dc.identifier.issn0931-0509en
dc.identifier.doi10.1093/ndt/gfy104.FP042en
dc.identifier.urihttp://hdl.handle.net/2436/622717
dc.description.abstractINTRODUCTION AND AIMS: ARPKD is a genetic disorder with an incidence of ~1:20,000 that can lead to perinatal mortality. In the ~60% of ARPKD patients who survive the neonatal period, there is a range of disease severity, however, little is known about the genetic mechanisms that regulate ARPKD. ARPKD is caused by mutations in PKHD1 which encodes the large membrane protein, fibrocystin, required for normal branching morphogenesis of the ureteric bud during embryonic renal development. The range of disease severity observed in ARPKD suggests that besides PKHD1 that when mutated causes ARPKD, other genes might also play a role in ARPKD, acting as modifiers of disease severity.en
dc.formatapplication/PDFen
dc.language.isoenen
dc.publisherOxford Academicen
dc.relation.urlhttps://academic.oup.com/ndt/article/33/suppl_1/i61/4997147en
dc.subjectsignal transductionen
dc.subjectcell polarityen
dc.subjectautosomal recessive polycystic kidney diseaseen
dc.titleAtmin modulates PKHD1 expression and through altered non-canonical wnt/planar cell polarity (pcp) signalling mediates ARPKD severityen
dc.typeConference contributionen
dc.identifier.eissn1460-2385
dc.identifier.journalNephrology Dialysis Transplantationen
dc.date.updated2019-09-09T11:17:42Z
dc.date.accepted2018-05-01
rioxxterms.funderGuangzhou Medical Universityen
rioxxterms.identifier.projectUOW120919PGen
rioxxterms.versionVoRen
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by-nc-nd/4.0/en
rioxxterms.licenseref.startdate2019-09-12en
dc.source.volume33
dc.description.versionPublished version
refterms.dateFCD2019-09-12T14:30:10Z
refterms.versionFCDVoR
refterms.dateFOA2019-09-12T14:30:59Z


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