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Article

Renal hypodysplasia associates with a WNT4 variant that causes aberrant canonical WNT signaling.

Journal of the American Society of Nephrology : JASN - 1 Mar 2013

Vivante Asaf, Mark-Danieli Michal, Davidovits Miriam, Harari-Steinberg Orit, Omer Dorit, Gnatek Yehudit, Cleper Roxana, Landau Daniel, Kovalski Yael, Weissman Irit, Eisenstein Israel, Soudack Michalle, Wolf Haike Reznik, Issler Naomi, Lotan Danny, Anikster Yair, Dekel Benjamin

Abstract excerpt

Abnormal differentiation of the renal stem/progenitor pool into kidney tissue can lead to renal hypodysplasia (RHD), but the underlying causes of RHD are not well understood. In this multicenter study, we identified 20 Israeli pedigrees with isolated familial, nonsyndromic RHD and screened for mutations in candidate genes involved in kidney development, including PAX2, HNF1B, EYA1, SIX1, SIX2, SALL1, GDNF, WNT4,...

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Source

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Identifiers

PMID: 23520208
DOI: 10.1681/ASN.2012010097
PMCID: PMC3609130

Genes

WNT4
RHD
EYA1
GDNF
PAX2
SALL1
SIX1
SIX2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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