Associated Papers
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
Molecular Genetic Architecture of Morbid Obesity in Russian Children.
Minniakhmetov IR et al.
Biomedicines, 2025
Wolfram Syndrome Type I Case Report and Review-Focus on Early Diagnosis and Genetic Variants.
Jurca AD et al.
Medicina (kaunas, Lithuania), 2024
Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disorders.
Lee EM et al.
Frontiers in Genetics, 2023
Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.
Billings LK et al.
Endocrinology, Diabetes & Metabolism, 2022
WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome.
Hu K et al.
Journal of Medical Genetics, 2022
Ophthalmic, systemic, and genetic characteristics of patients with Wolfram syndrome.
Ustaoglu M et al.
European Journal of Ophthalmology, 2020
Characterization of an induced pluripotent stem cell line (IMBPASi001-A) derived from fibroblasts of a patient affected by Wolfram Syndrome.
Grzela DP et al.
Stem Cell Research, 2020
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.
Astuti D et al.
Human Mutation, 2017
Mutation allele burden remains unchanged in chronic myelomonocytic leukaemia responding to hypomethylating agents.
Merlevede J et al.
Nature Communications, 2016
β-cell dysfunction due to increased ER stress in a stem cell model of Wolfram syndrome.
Shang L et al.
Diabetes, 2014
The prevalence of Wolfram syndrome in a paediatric population with diabetes.
Zmysłowska A et al.
Endokrynologia Polska, 2014
Central nervous system PET-CT imaging reveals regional impairments in pediatric patients with Wolfram syndrome.
Zmyslowska A et al.
Plos One, 2014
Wolfram syndrome in the Polish population: novel mutations and genotype-phenotype correlation.
Zmyslowska A et al.
Clinical Endocrinology, 2011
Diabetes and neurodegeneration in Wolfram syndrome: a multicenter study of phenotype and genotype.
Rohayem J et al.
Diabetes Care, 2011
The E3 ligase Smurf1 regulates Wolfram syndrome protein stability at the endoplasmic reticulum.
Guo X et al.
The Journal of Biological Chemistry, 2011
WS1 gene mutation analysis of Wolfram syndrome in a Chinese patient and a systematic review of literatures.
Yu G et al.
Endocrine, 2010
Wolfram syndrome-associated mutations lead to instability and proteasomal degradation of wolframin.
Hofmann S et al.
Febs Letters, 2006
WFS1 is a novel component of the unfolded protein response and maintains homeostasis of the endoplasmic reticulum in pancreatic beta-cells.
Fonseca SG et al.
The Journal of Biological Chemistry, 2005
Wolframin mutations and hospitalization for psychiatric illness.
Swift M et al.
Molecular Psychiatry, 2005
Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease.
Cryns K et al.
Human Mutation, 2003
WFS1/wolframin mutations, Wolfram syndrome, and associated diseases.
Khanim F et al.
Human Mutation, 2001
Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1.
Hardy C et al.
American Journal of Human Genetics, 1999
A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome).
Inoue H et al.
Nature Genetics, 1998