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Mutations in the human genes encoding the transcription factors of the hepatocyte nuclear factor (HNF)1 and HNF4 families: functional and pathological consequences.

Journal of molecular endocrinology - 1 Aug 2001

Ryffel G U

Abstract excerpt

Mutations in the human genes encoding the tissue-specific transcription factors hepatocyte nuclear factor (HNF)1alpha, HNF1beta and HNF4alpha are responsible for maturity onset diabetes of the young (MODY), a monogenic dominant inherited form of diabetes mellitus characterized by defective insuli...

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Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
Diabetes Mellitus, Type 2
Hepatocyte Nuclear Factor 1
Hepatocyte Nuclear Factor 1-alpha
Hepatocyte Nuclear Factor 1-beta

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Hepatocyte Nuclear Factor 4

Phosphoproteins

Regulatory Sequences, Nucleic Acid

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Identifiers

PMID: 11463573
DOI: 10.1677/jme.0.0270011

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026. Prepared record publication-11463573-2026-08-31.1. Manifest publication-graph-cohort-2026-08-31.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 31 Aug 2026.

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Mutations in the human genes encoding the transcription factors of the hepatocyte nuclear factor (HNF)1 and HNF4 families: functional and pathological consequences.PMID 11463573Read ↗

Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia.Semantic proximity Read ↗

Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young.Semantic proximity Read ↗

[Mutations in the genes of the HNF-family cause maturity-onset diabetes of the young (MODY)].Semantic proximity Read ↗

Roles of HNF1α and HNF4α in pancreatic β-cells: lessons from a monogenic form of diabetes (MODY).Semantic proximity Read ↗

Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young.Semantic proximity Read ↗

Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1)Semantic proximity Read ↗

Genetic evidence that HNF-1alpha-dependent transcriptional control of HNF-4alpha is essential for human pancreatic beta cell function.Semantic proximity Read ↗

The Landscape of HNF1B Deficiency: A Syndrome Not Yet Fully ExploredSemantic proximity Read ↗

beta-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors.Semantic proximity Read ↗

Distinct roles of HNF1beta, HNF1alpha, and HNF4alpha in regulating pancreas development, beta-cell function and growth.Semantic proximity Read ↗

Naturally occurring mutations in the human HNF4alpha gene impair the function of the transcription factor to a varying degreeSemantic proximity Read ↗

Hepatocyte nuclear factor (HNF)1A and HNF4A substitution occurring simultaneously in a family with maturity-onset diabetes of the young.Semantic proximity Read ↗

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