WFS1/wolframin mutations, Wolfram syndrome, and associated diseases
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference40 articles.
1. Missense Variations of the Gene Responsible for Wolfram Syndrome (WFS1/wolframin) in Japanese: Possible Contribution of the Arg456His Mutation to Type 1 Diabetes as a Nonautoimmune Genetic Basis
2. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome
3. The mitochondrial genome in Wolfram syndrome
4. A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome.
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1. Novel WFS1 variants are associated with different diabetes phenotypes;Frontiers in Genetics;2024-08-16
2. Clinical Characteristics and Audiological Profiles of Patients with Pathogenic Variants of WFS1;Journal of Clinical Medicine;2024-08-16
3. ISR inhibition reverses pancreatic β-cell failure in Wolfram syndrome models;Cell Death & Differentiation;2024-02-06
4. Shared features in ear and kidney development – implications for oto-renal syndromes;Disease Models & Mechanisms;2024-02-01
5. Wolfram syndrome type 1: a case series;Orphanet Journal of Rare Diseases;2023-11-16
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