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Article

Distinct molecular and morphogenetic properties of mutations in the human HNF1beta gene that lead to defective kidney development.

Journal of the American Society of Nephrology : JASN - 1 Aug 2003

Bohn Silvia, Thomas Heike, Turan Gülüzar, Ellard Sian, Bingham Coralie, Hattersley Andrew T, Ryffel Gerhart U

Abstract excerpt

The homeobox transcription factor hepatocyte nuclear factor 1beta (HNF1beta) is a tissue-specific regulator that plays an essential role in early vertebrate development. In humans, heterozygous mutations in the HNF1beta gene are associated with young-onset diabetes as well as a variety of disorders of renal development with cysts as the most consistent feature. This report compares and classifies nine different...

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PMID: 12874457
DOI: 10.1097/01.asn.0000078808.70309.c4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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