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
Defects of WFS1-mediated peptide hormones secretion contribute to the manifestations of Wolfram syndrome.
Li S et al.
Life Sciences, 2024
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Komatsu K et al.
Scientific Reports, 2024
Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy.
de Muijnck C et al.
Scientific Reports, 2024
Wolfram Syndrome 1: A Neuropsychiatric Perspective on a Rare Disease.
Caruso V et al.
Genes, 2024
WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome.
Lim HD et al.
Bmc Medical Genomics, 2023
Genotype and Clinical Characteristics of Patients with Wolfram Syndrome and WFS1-related Disorders.
Lee EM et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Paediatric Wolfram syndrome Type 1: should gonadal dysfunction be part of the diagnostic criteria?
Frontino G et al.
Frontiers in Endocrinology, 2023
WFS1 functions in ER export of vesicular cargo proteins in pancreatic β-cells.
Wang L et al.
Nature Communications, 2021
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
Identification of the rare variant p.Val803Met of WFS1 gene as a cause of Wolfram-like syndrome in a Chinese family.
Deng H et al.
Acta Diabetologica, 2020
Effect of 4-phenylbutyrate and valproate on dominant mutations of WFS1 gene in Wolfram syndrome.
Batjargal K et al.
Journal of Endocrinological Investigation, 2020
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.
Astuti D et al.
Human Mutation, 2017
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
A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report.
Prochazkova D et al.
Journal of Clinical Research in Pediatric Endocrinology, 2016
Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1.
Qian X et al.
Scientific Reports, 2015
Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders.
Chaussenot A et al.
Clinical Genetics, 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
A NOVEL DE NOVO LIKELY PATHOGENIC VARIANT OF WFS-1 GENE IN A PAKISTANI CHILD WITH NON-CLASSIC WFS-1 SPECTRUM DISORDER.
Hanif MI et al.
Journal of Ayub Medical College, Abbottabad : Jamc, 0