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Atmin modulates PKHD1 expression and through altered non-canonical wnt/planar cell polarity (pcp) signalling mediates ARPKD severity
Goggolidou, Paraskevi Modarage, Kavindiya Dean, Charlotte Norman, Jill Wilson, Patricia
Goggolidou, Paraskevi
Modarage, Kavindiya
Dean, Charlotte
Norman, Jill
Wilson, Patricia
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2018-05-18
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Abstract
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.
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en
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ISSN
0931-0509
EISSN
1460-2385