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Article

Mutation of hepatocyte nuclear factor-1beta inhibits Pkhd1 gene expression and produces renal cysts in mice.

The Journal of clinical investigation - 1 Mar 2004

Hiesberger Thomas, Bai Yun, Shao Xinli, McNally Brian T, Sinclair Angus M, Tian Xin, Somlo Stefan, Igarashi Peter

Abstract excerpt

Hepatocyte nuclear factor-1beta (HNF-1beta) is a Pit-1, Oct-1/2, UNC-86 (POU)/homeodomain-containing transcription factor that regulates tissue-specific gene expression in the liver, kidney, and other organs. Humans with autosomal dominant mutations of HNF-1beta develop maturity-onset diabetes of...

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Topics

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Share to DNA-Binding Proteins
Share to Gene Expression Regulation
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Kidney Diseases, Cystic

Share to Mice, Transgenic

Share to Promoter Regions, Genetic

Share to Receptors, Cell Surface

Share to Transcription Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 15067314
DOI: 10.1172/JCI20083
PMCID: PMC362119

Genes

PKHD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15067314-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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