Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

HNF1beta/TCF2 mutations impair transactivation potential through altered co-regulator recruitment.

Human molecular genetics - 15 Dec 2004

Barbacci Elena, Chalkiadaki Angeliki, Masdeu Christelle, Haumaitre Cécile, Lokmane Ludmilla, Loirat Chantal, Cloarec Sylvie, Talianidis Iannis, Bellanne-Chantelot Christine, Cereghini Silvia

Abstract excerpt

Mutations in the HNF1beta gene, encoding the dimeric POU-homeodomain transcription factor HNF1beta (TCF2 or vHNF1), cause various phenotypes including maturity onset diabetes of the young 5 (MODY5), and abnormalities in kidney, pancreas and genital tract development. To gain insight into the molecular mechanisms underlying these phenotypes and into the structure of HNF1beta, we functionally characterized eight...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Dimerization
Share to DNA

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA-Binding Proteins

Share to Gene Expression Regulation

Share to Genetic Markers

Share to Hepatocyte Nuclear Factor 1-beta

Share to Transcription Factors

Share to Transcriptional Activation

Source

Identifiers

PMID: 15509593
DOI: 10.1093/hmg/ddh338

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

HNF1beta/TCF2 mutations impair transactivation potential through altered co-regulator recruitment.PMID 15509593Read ↗

Mutation P291fsinsC in the Transcription Factor Hepatocyte Nuclear Factor-1α is Dominant NegativeSemantic proximity Read ↗

Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects.Semantic proximity Read ↗

R127W-HNF-4alpha is a loss of function mutation but not a rare polymorphism and causes Type II diabetes in a Japanese family with MODY1.Semantic proximity Read ↗

Promoter-Specific Repression of Hepatocyte Nuclear Factor (HNF)-1β and HNF-1α Transcriptional Activity by an HNF-1β Missense Mutant Associated with Type 5 Maturity-Onset Diabetes of the Young with Hepatic and Biliary ManifestationsSemantic proximity Read ↗

Diabetes mutations delineate an atypical POU domain in HNF-1alpha.Semantic proximity Read ↗

Maturity-onset diabetes of the young Type 1 (MODY1)-associated mutations R154X and E276Q in hepatocyte nuclear factor 4alpha (HNF4alpha) gene impair recruitment of p300, a key transcriptional co-activator.Semantic proximity Read ↗

A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1betaSemantic proximity Read ↗

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

HNF1A POU Domain Mutations Found in Japanese Liver Cancer Patients Cause Downregulation of HNF4A Promoter Activity with Possible Disruption in Transcription Networks.Semantic proximity Read ↗

Transcription factor-dependent regulation of CBP and P/CAF histone acetyltransferase activity.Semantic proximity Read ↗

Functional dissection of the HNF-1alpha transcription factor: a study on nuclear localization and transcriptional activation.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.