Associated Papers
Case Report: Rapid cataract development preceding diabetes mellitus in WFS1 spectrum disorder.
Gulani AA et al.
Frontiers in Ophthalmology, 2025
Multimorbidity due to novel pathogenic variants in the WFS1/RP1/NOD2 genes: autosomal dominant congenital lamellar cataract, retinitis pigmentosa and Crohn's disease in a British family.
Berry V et al.
Bmj Open Ophthalmology, 2023
Neurosensory Affectation in Patients Affected by Wolfram Syndrome: Descriptive and Longitudinal Analysis.
Esteban-Bueno G et al.
Healthcare (basel, Switzerland), 2023
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
A novel WFS1 variant associated with isolated congenital cataracts.
Krutish A et al.
Cold Spring Harbor Molecular Case Studies, 2023
Novel Mutations of PAX6 and WFS1 Associated With Congenital Cataract in a Chinese Family.
Sheng D et al.
Cureus, 2023
A novel mutation of WFS1 gene leading to increase ER stress and cell apoptosis is associated an autosomal dominant form of Wolfram syndrome type 1.
Gong Y et al.
Bmc Endocrine Disorders, 2021
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
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease
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 gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans.
Berry V et al.
European Journal of Human Genetics : Ejhg, 2013
Select a paper to view details