A Novel Anks6 Nonsense Variant Promotes Polycystic Kidney Disease in Han:SPRD-Cy Rats and its Homozygosity is Prenatally Lethal

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Authors

Trevor J. Pemberton · University of Manitoba

Tanja Winter · St. Boniface Hospital

Richard Hemming · University of Manitoba

Alexandra Blant · University of Manitoba

Agnes Fresnoza · Shared Health

Emily Barker · University of Manitoba

Mehrafarin Ashiri ·

Abstract

We identified a novel nonsense variant in Anks6. The findings indicate that the absence of wild-type ANKS6 accelerates PKD development in the Han:SPRD-Cy rat, and that complete ANKS6 deficiency prevents normal embryonic development in rats.

Topics & Keywords

Genetic and Kidney Cyst Diseases Renal and related cancers Cellular transport and secretion

Publication Details

Published in: Kidney360

DOI: 10.34067/kid.0000001168

Field-Weighted Citation Impact: 0.00

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A Novel Anks6 Nonsense Variant Promotes Polycystic Kidney Disease in Han:SPRD-Cy Rats and its Homozygosity is Prenatally Lethal

Authors

Abstract

Topics & Keywords

Publication Details