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Article

SIX1 gene: absence of mutations in children with isolated congenital anomalies of kidney and urinary tract.

Journal of nephrology - 1 Dec 2014

Negrisolo Susanna, Centi Sonia, Benetti Elisa, Ghirardo Giulia, Della Vella Manuela, Murer Luisa, Artifoni Lina

Abstract excerpt

BACKGROUND: Mutations in human SIX1 gene cause branchiootorenal or branchiootic syndrome. Six1 deficient mice exhibit uni- or bilateral renal hypoplasia or kidney agenesis. Furthermore a lack of Six1 gene in the ureter leads to hydroureter and hydronephrosis. These murine malformations resemble human kidney and urinary tract congenital anomalies (CAKUT), a group of diseases with a diverse anatomical spectrum...

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Source

Identifiers

PMID: 24899122
DOI: 10.1007/s40620-014-0112-x

Genes

SIX1

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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