Associated Papers
Gonadal function in males with WFS1 spectrum disorder (Wolfram syndrome)-A European cohort perspective.
Rohayem J et al.
Andrology, 2026
Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.
Ayoub C et al.
Human Genomics, 2025
The phenotypic spectrum of syndromic optic atrophy associated with variants in WFS1: with reclassification of p.Val606Gly as a likely benign variant.
Hull S et al.
Ophthalmic Genetics, 2025
Defects of WFS1-mediated peptide hormones secretion contribute to the manifestations of Wolfram syndrome.
Li S et al.
Life Sciences, 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
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
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome.
Hu K et al.
Journal of Medical Genetics, 2022
Genetic etiological analysis of auditory neuropathy spectrum disorder by next-generation sequencing.
Sun L et al.
Frontiers in Neurology, 2022
A phase Ib/IIa clinical trial of dantrolene sodium in patients with Wolfram syndrome.
Abreu D et al.
Jci Insight, 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
Effect of 4-phenylbutyrate and valproate on dominant mutations of WFS1 gene in Wolfram syndrome.
Batjargal K et al.
Journal of Endocrinological Investigation, 2020
Recurrent de novo WFS1 pathogenic variants in Chinese sporadic patients with nonsyndromic sensorineural hearing loss.
Guan J et al.
Molecular Genetics & Genomic Medicine, 2020
Novel mutations and the ophthalmologic characters in Chinese patients with Wolfram Syndrome.
Zhang Y et al.
Orphanet Journal of Rare Diseases, 2019
Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes.
Lewis MA et al.
Bmc Medical Genomics, 2018
Bladder dysfunction in Wolfram syndrome is highly prevalent and progresses to megacystis.
Wragg R et al.
Journal of Pediatric Surgery, 2018
A novel heterozygous mutation of the WFS1 gene leading to constitutive endoplasmic reticulum stress is the cause of Wolfram syndrome.
Morikawa S et al.
Pediatric Diabetes, 2017
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
Wolfram Syndrome: Diagnosis, Management, and Treatment.
Urano F
Current Diabetes Reports, 2016
WFS1 mutations in hearing-impaired children.
Häkli S et al.
International Journal of Audiology, 2014
Calcium efflux from the endoplasmic reticulum leads to β-cell death.
Hara T et al.
Endocrinology, 2014
Autosomal dominant diabetes arising from a Wolfram syndrome 1 mutation.
Bonnycastle LL et al.
Diabetes, 2013
Phenotypic characteristics of early Wolfram syndrome.
Marshall BA et al.
Orphanet Journal of Rare Diseases, 2013
Diabetes and neurodegeneration in Wolfram syndrome: a multicenter study of phenotype and genotype.
Rohayem J et al.
Diabetes Care, 2011
WS1 gene mutation analysis of Wolfram syndrome in a Chinese patient and a systematic review of literatures.
Yu G et al.
Endocrine, 2010
Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified.
Hansen L et al.
European Journal of Human Genetics : Ejhg, 2005