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

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

Georgian medical news - 1 Apr 2011

Banin P, Giovannini M, Raimondi F, D'Annunzio G, Sala S, Salina A, Aloi C, De Sanctis V

Abstract excerpt

We report a 12-years-old Romanian boy with a diagnosis of diabetes and renal insufficiency. Mutations in homeodomain-containing transcription factor hepatocyte nuclear factor (HNF-1β) have been reported in association with maturity-onset diabetes of the young (MODY 5) and early maturity-onset diabetes, progressive non-diabetic renal dysfunction and bilateral renal cysts. We found a new heterozygous mutation in...

Read the complete abstract on PubMed

Topics

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

Share to Calcinosis
Share to Diabetes Mellitus

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hepatocyte Nuclear Factor 1-beta

Share to Kidney Diseases, Cystic

Share to Liver Diseases

Share to Pancreatic Diseases

Share to Radiography

Share to Renal Insufficiency

Source

Identifiers

PMID: 21617276

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

A novel hepatocyte nuclear factor-1β (MODY 5) gene mutation in a Romanian boy with pancreatic calcifications, renal and hepatic dysfunction.PMID 21617276Read ↗

Four Cases of Maturity Onset Diabetes of the Young (MODY) Type 5 Associated with Mutations in the Hepatocyte Nuclear Factor 1 Beta (HNF1B) Gene Presenting in a 13-Year-Old Boy and in Adult Men Aged 33, 34, and 35 Years in Poland.Semantic proximity Read ↗

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

Case Report: A case of HNF1B mutation patient with first presentation of diabetic ketosis.Semantic proximity Read ↗

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

HNF1B mutation in a Turkish child with renal and exocrine pancreas insufficiency, diabetes and liver disease.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 ↗

Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1Semantic proximity Read ↗

Maturity-onset diabetes of the young (MODY): a new challenge for pediatric diabetologists.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 ↗

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

A case of a novel mutation in HNF1β-related maturity-onset diabetes of the young type 5 with diabetic kidney disease complication in a Chinese family.Semantic proximity Read ↗

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