Atmin modulates PKHD1 expression and through altered non-canonical wnt/planar cell polarity (pcp) signalling mediates ARPKD severity
Authors
Goggolidou, ParaskeviRichards, Taylor
Modarage, Kavindiya
Dean, Charlotte
Norman, Jill
Wilson, Patricia
Issue Date
2018-05-18
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INTRODUCTION 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.Citation
Goggolidou, 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.Publisher
Oxford AcademicJournal
Nephrology Dialysis TransplantationAdditional Links
https://academic.oup.com/ndt/article/33/suppl_1/i61/4997147Type
Conference contributionLanguage
enISSN
0931-0509EISSN
1460-2385ae974a485f413a2113503eed53cd6c53
10.1093/ndt/gfy104.FP042
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