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

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.

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Publication Details

Journal
Kidney360
Published
2026-03-11
DOI
https://doi.org/10.34067/kid.0000001168
Primary Topic
Genetic and Kidney Cyst Diseases
Type
article
Field-Weighted Citation Impact
0.00
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article

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

Agnes Fresnoza, Vernon Wayne Dolinsky, Harold M. Aukema, Emily Barker et al.
Kidney360
Genetic and Kidney Cyst Diseases
article

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

Agnes Fresnoza, Vernon Wayne Dolinsky, Harold M. Aukema, Emily Barker, Tanja Winter, Trevor J. Pemberton, Mehrafarin Ashiri, Richard Hemming, Alexandra Blant, Bo Xiang, Barbara Triggs-Raine
article en

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.

Kidney360
St. Boniface Hospital (CA), Shared Health (CA), University of Manitoba (CA)
Openalex Percentile: Top 24%
Genetic and Kidney Cyst Diseases
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