Associated Papers
Topology of WFS1 Variants Linked With Islet Function and Higher Risk of Urological Symptoms in WFS1-Associated Disease.
Zhang JJ et al.
Pediatric Diabetes, 2025
WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome.
Lim HD et al.
Bmc Medical Genomics, 2023
Gene Panel Sequencing of Patients With Monogenic Diabetes Brings to Light Genes Typically Associated With Syndromic Presentations.
Saint-Martin C et al.
Diabetes, 2022
Missense Variant of Endoplasmic Reticulum Region of WFS1 Gene Causes Autosomal Dominant Hearing Loss without Syndromic Phenotype.
Li J et al.
Biomed Research International, 2021
A homozygous missense mutation of WFS1 gene causes Wolfram's syndrome without hearing loss in an Iranian family (a report of clinical heterogeneity).
Torkamandi S et al.
Journal of Clinical Laboratory Analysis, 2020
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.
Astuti D et al.
Human Mutation, 2017
28432734 (PubMed )
Supplement: HUMU-38-764-s001.xlsx › Sheet1
Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts.
De Franco E et al.
Diabetes, 2017
Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1.
Qian X et al.
Scientific Reports, 2015
[Wolfram syndrome: clinical features, molecular genetics of WFS1 gene].
Tanabe K et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2015
Wolfram syndrome in the Japanese population; molecular analysis of WFS1 gene and characterization of clinical features.
Matsunaga K et al.
Plos One, 2014
[Positional cloning of the gene(WFS1) for Wolfram syndrome].
Tanizawa Y et al.
Rinsho Byori. the Japanese Journal of Clinical Pathology, 2000
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