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

Phenotype-genotype correlations in a series of wolfram syndrome families.

Diabetes care - 1 Aug 2004

Smith Casey J A, Crock Patricia A, King Bruce R, Meldrum Cliff J, Scott Rodney J

Abstract excerpt

OBJECTIVE: Wolfram syndrome is an extremely rare autosomal-recessive disorder that predisposes the development of type 1 diabetes in association with progressive optic atrophy. The genetic basis of this disease has been shown to be due to mutations in the WFS1 gene. The WFS1 gene encodes a novel transmembrane protein called wolframin, which recent evidence suggests may serve as a novel endoplasmic reticulum...

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 Diabetes Mellitus
Share to DNA

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Membrane Proteins

Share to Protein Conformation

Share to Sequence Deletion

Share to Wolfram Syndrome

Source

Identifiers

PMID: 15277431
DOI: 10.2337/diacare.27.8.2003

Genes

WFS1

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

Phenotype-genotype correlations in a series of wolfram syndrome families.PMID 15277431Read ↗

Clinical Spectrum Associated with Wolfram Syndrome Type 1 and Type 2: A Review on Genotype-Phenotype Correlations.Semantic proximity Read ↗

Genotype and Clinical Characteristics of Patients with Wolfram Syndrome and WFS1-related DisordersSemantic proximity Read ↗

Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome.Semantic proximity Read ↗

Wolfram syndrome: new mutations, different phenotype.Semantic proximity Read ↗

Wolfram syndrome in the Polish population: novel mutations and genotype-phenotype correlation.Semantic proximity Read ↗

Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype.Semantic proximity Read ↗

Identification of novel mutations of the WFS1 gene in Brazilian patients with Wolfram syndrome.Semantic proximity Read ↗

Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease.Semantic proximity Read ↗

Wolfram syndrome (diabetes insipidus, diabetes, optic atrophy, and deafness): clinical and genetic study.Semantic proximity Read ↗

Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1.Semantic proximity Read ↗

Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum.Semantic proximity Read ↗

Wolfram syndrome and WFS1 gene.Semantic proximity Read ↗

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