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Article

Expression of renal cystic genes in patients with HNF1B mutations.

Nephron. Clinical practice - 1 Jan 2012

Faguer Stanislas, Decramer Stéphane, Devuyst Olivier, Lengelé Jean-Philippe, Fournié Gilbert J, Chauveau Dominique

Abstract excerpt

BACKGROUND/AIMS: HNF1B nephropathy is characterized by dominantly inherited renal hypodysplasia with few cysts, slow renal decline and hypomagnesemia. Mice with antenatal inactivation of HNF1B are characterized by polycystic kidneys, renal failure and a profound decrease in cystic gene (Pkhd1, Umod, Pkd2) expression. Mice with inactivation after postnatal day 10 have no renal phenotype. METHODS: Quantification of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22269832
DOI: 10.1159/000334954

Genes

CLDN16
FXYD2
IFT88
PKD1
PKD2
PKHD1
UMOD

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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