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Anatomy of a Homeoprotein Revealed by the Analysis of Human MODY3 Mutations

1 Dec 1999

Abstract excerpt

Hepatocyte nuclear factor 1alpha (HNF1alpha) is an atypical dimeric homeodomain-containing protein that is expressed in liver, intestine, stomach, kidney, and pancreas. Mutations in the HNF1alpha gene are associated with an autosomal dominant form of non-insulin-dependent diabetes mellitus called maturity-onset diabetes of the young (MODY3). More than 80 different mutations have been identified so far, many of...

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PMID: 10585442
DOI: 10.1074/jbc.274.50.35639

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Anatomy of a Homeoprotein Revealed by the Analysis of Human MODY3 MutationsPMID 10585442Read ↗

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Determining the role of missense mutations in the POU domain of HNF1A that reduce the DNA-binding affinity: A computational approachSemantic proximity Read ↗

Structural basis of dimerization, coactivator recognition and MODY3 mutations in HNF-1alpha.Semantic proximity Read ↗

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Characterization of a naturally occurring mutation (L107I) in the HNF1 alpha (MODY3) gene.Semantic proximity Read ↗

The maturity-onset diabetes of the young (MODY1) transcription factor HNF4alpha regulates expression of genes required for glucose transport and metabolism.Semantic proximity Read ↗

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

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