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

Maturity-onset diabetes of the young resulting from a novel mutation in the HNF-4alpha gene.

Internal medicine (Tokyo, Japan) - 1 Oct 2002

Hara Kazuo, Noda Mitsuhiko, Waki Hironori, Tobe Kazuyuki, Yamauchi Toshimasa, Kadowaki Hiroko, Satou Hiroaki, Tsukamoto Kazuhisa, Nagamatsu Shinya, Yamagata Kazuhiro, Matsuzawa Yuji, Akanuma Yasuo, Kimura Satoshi, Kadowaki Takashi

Abstract excerpt

A 52-year-old woman with early-onset diabetes mellitus, severe diabetic retinopathy, and a family history of a dominant inheritance pattern was referred to our hospital. Direct sequencing revealed a novel mutation in the HNF-4alpha gene (R244Q). The position of the mutation in the amino-acid sequ...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to Basic Helix-Loop-Helix Leucine Zipper Transcription Factors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Blood Glucose

Share to Diabetes Mellitus, Type 2

Share to Genes, Dominant

Share to Glucose Tolerance Test

Share to Hepatocyte Nuclear Factor 4

Share to Phosphoproteins

Source

Identifiers

PMID: 12413008
DOI: 10.2169/internalmedicine.41.848

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12413008-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Maturity-onset diabetes of the young resulting from a novel mutation in the HNF-4alpha gene.PMID 12413008Read ↗

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

Genetics and Pathophysiology of Maturity-onset Diabetes of the Young (MODY): A Review of Current TrendsSemantic proximity Read ↗

Genetic testing for maturity-onset diabetes of the young resulting in an upgraded genetic classification of an HNF1A gene variant: a case report.Semantic proximity Read ↗

Clinical and molecular characterization of maturity onset-diabetes of the young caused by hepatocyte nuclear factor-4 alpha mutation: red flags for prediction of the diagnosis.Semantic proximity Read ↗

Maturity-Onset Diabetes of the Young (MODY) in Portugal: Novel GCK, HNFA1 and HNFA4 MutationsSemantic proximity Read ↗

Identification of HNF4A Mutation p.T130I and HNF1A Mutations p.I27L and p.S487N in a Han Chinese Family with Early-Onset Maternally Inherited Type 2 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 ↗

Mutations in the coding regions of the hepatocyte nuclear factor 4 alpha in Iranian families with maturity onset diabetes of the young.Semantic proximity Read ↗

Maturity-onset diabetes of the young: from clinical description to molecular genetic characterization.Semantic 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 ↗

Triple genetic variation in the HNF-4alpha gene is associated with early-onset type 2 diabetes mellitus in a philippino family.Semantic proximity Read ↗

Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young.Semantic proximity Read ↗

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