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

Identifying hepatic nuclear factor 1alpha mutations in children and young adults with a clinical diagnosis of type 1 diabetes.

Diabetes care - 1 Feb 2003

Lambert A Paul, Ellard Sian, Allen Lisa I S, Gallen Ian W, Gillespie Kathleen M, Bingley Polly J, Hattersley Andrew T

Abstract excerpt

OBJECTIVE: HNF-1alpha gene mutations (MODY3) present with marked hyperglycemia in lean young adults and may, therefore, be mistaken for type 1 diabetes, with implications for individual treatment and risk of diabetes in other family members. We examined the prevalence of HNF-1alpha mutations in families with three generations of diabetes identified in a population-based study of childhood diabetes, representing a...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Substitution
Share to Autoantibodies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Codon, Nonsense

Share to Diabetes Mellitus, Type 1

Share to Hepatocyte Nuclear Factor 1

Share to Hepatocyte Nuclear Factor 1-alpha

Share to Hepatocyte Nuclear Factor 1-beta

Share to Histocompatibility Antigens Class II

Source

Identifiers

PMID: 12547858
DOI: 10.2337/diacare.26.2.333

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

Identifying hepatic nuclear factor 1alpha mutations in children and young adults with a clinical diagnosis of type 1 diabetes.PMID 12547858Read ↗

The HNF1A mutant Ala180Val: Clinical challenges in determining causality of a rare HNF1A variant in familial diabetes.Semantic proximity Read ↗

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 ↗

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

Familial young-onset forms of diabetes related to HNF4A and rare HNF1A molecular aetiologies.Semantic proximity Read ↗

Mutations in the hepatocyte nuclear factor-1alpha gene are a common cause of maturity-onset diabetes of the young in the U.K.Semantic proximity Read ↗

Functional Investigations of HNF1A Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population.Semantic proximity Read ↗

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

Expanded Clinical Spectrum in Hepatocyte Nuclear Factor 1B-Maturity-Onset Diabetes of the YoungSemantic proximity Read ↗

Association of common variation in the HNF1alpha gene region with risk of type 2 diabetes.Semantic proximity Read ↗

Etiology of early-onset type 2 diabetes in Indians: islet autoimmunity and mutations in hepatocyte nuclear factor 1alpha and mitochondrial gene.Semantic proximity Read ↗

Characterisation of HNF1A variants in paediatric diabetes in Norway using functional and clinical investigations to unmask phenotype and monogenic diabetes.Semantic proximity Read ↗

Mutations in the hepatocyte nuclear factor-1alpha gene in Caucasian families originally classified as having Type I diabetes.Semantic proximity Read ↗

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