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

Exonic duplication of the hepatocyte nuclear factor-1beta gene (transcription factor 2, hepatic) as a cause of maturity onset diabetes of the young type 5.

The Journal of clinical endocrinology and metabolism - 1 Jul 2007

Carette Claire, Vaury Christelle, Barthélémy Anne, Clauin Séverine, Grünfeld Jean-Pierre, Timsit José, Bellanné-Chantelot Christine

Abstract excerpt

CONTEXT: Maturity onset diabetes of the young (MODY) type 5 has been described as the association of early-onset diabetes and renal disease. Actually, MODY5 encompasses multiple phenotypes, including nondiabetic progressive renal failure, kidney and genital tract malformations, atypical familial hyperuricemic nephropathy, pancreas atrophy, and liver test abnormalities. The occurrence of MODY5 has been associated...

Read the complete abstract on PubMed

Topics

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

Share to Diabetes Mellitus, Type 2
Share to Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family Health

Share to Gene Duplication

Share to Hepatocyte Nuclear Factor 1-beta

Share to Pedigree

Share to Phenotype

Source

Identifiers

PMID: 17440011
DOI: 10.1210/jc.2007-0286

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

Exonic duplication of the hepatocyte nuclear factor-1beta gene (transcription factor 2, hepatic) as a cause of maturity onset diabetes of the young type 5.PMID 17440011Read ↗

Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5.Semantic proximity Read ↗

Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations.Semantic proximity Read ↗

Phenotype of a patient with a de novo mutation in the hepatocyte nuclear factor 1beta/maturity-onset diabetes of the young type 5 gene.Semantic proximity Read ↗

Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort.Semantic proximity Read ↗

Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1β/MODY5 mutationsSemantic proximity Read ↗

A novel hepatocyte nuclear factor-1β (MODY 5) gene mutation in a Romanian boy with pancreatic calcifications, renal and hepatic dysfunction.Semantic proximity Read ↗

[Abnormalities of hepatocyte nuclear factor (HNF)-1beta: biological mechanisms, phenotypes, and clinical consequences].Semantic proximity Read ↗

Mutations in hepatocyte nuclear factor-1β and their related phenotypesSemantic proximity Read ↗

Nonsense and Missense Mutations in the Human Hepatocyte Nuclear Factor-1β Gene (<i>TCF2</i>) and Their Relation to Type 2 Diabetes in JapaneseSemantic proximity Read ↗

17q12 Deletion Syndrome as a Rare Cause for Diabetes Mellitus Type MODY5Semantic proximity Read ↗

Digenic inheritance of hepatocyte nuclear factor-1alpha and -1beta with maturity-onset diabetes of the young, polycystic thyroid, and urogenital malformations.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 ↗

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