Associated Papers
Multilocus Disease-Causing Genomic Variations for Genetic Disorders: Single Tertiary Centre Experience From Türkiye.
Kablan A et al.
Clinical Genetics, 2025
Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.
Huerta-Chagoya A et al.
Nature Genetics, 2024
Wolfram Syndrome 1: A Neuropsychiatric Perspective on a Rare Disease.
Caruso V et al.
Genes, 2024
Wolfram syndrome type 1: a case series.
Du D et al.
Orphanet Journal of Rare Diseases, 2023
Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes.
Schroeder P et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
The genetic and clinical characteristics of WFS1 related diabetes in Chinese early onset type 2 diabetes.
Li Y et al.
Scientific Reports, 2023
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
Comprehensive Genetic Analysis Unraveled the Missing Heritability in a Chinese Cohort With Wolfram Syndrome 1: Clinical and Genetic Findings.
Zhang X et al.
Investigative Ophthalmology & Visual Science, 2022
Syndromic Monogenic Diabetes Genes Should Be Tested in Patients With a Clinical Suspicion of Maturity-Onset Diabetes of the Young.
Colclough K et al.
Diabetes, 2022
Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics.
Patel KA et al.
Diabetologia, 2022
Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes.
Quaio CRAC et al.
Frontiers in Genetics, 2022
A phase Ib/IIa clinical trial of dantrolene sodium in patients with Wolfram syndrome.
Abreu D et al.
Jci Insight, 2021
Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of Wolframin.
Wilf-Yarkoni A et al.
Neurology. Genetics, 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
Ophthalmic, systemic, and genetic characteristics of patients with Wolfram syndrome.
Ustaoglu M et al.
European Journal of Ophthalmology, 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
Functional assessment of variants associated with Wolfram syndrome.
Riachi M et al.
Human Molecular Genetics, 2019
Clinical and molecular assessment of 13 Iranian families with Wolfram syndrome.
Sobhani M et al.
Endocrine, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Pancreatic stone protein/regenerating protein is a potential biomarker for endoplasmic reticulum stress in beta cells.
Stone S et al.
Scientific Reports, 2019
Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.
Tarailo-Graovac M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Clinical and Molecular Genetic Analysis in Three Children with Wolfram Syndrome: A Novel WFS1 Mutation (c.2534T>A).
Çelmeli G et al.
Journal of Clinical Research in Pediatric Endocrinology, 2017
Neuroimaging evidence of deficient axon myelination in Wolfram syndrome.
Lugar HM et al.
Scientific Reports, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders.
Chaussenot A et al.
Clinical Genetics, 2015
Significant expressivity of Wolfram syndrome: phenotypic assessment of two known and one novel mutation in the WFS1 gene in three Iranian families.
Sobhani M et al.
Molecular Biology Reports, 2014
Phenotypic characteristics of early Wolfram syndrome.
Marshall BA et al.
Orphanet Journal of Rare Diseases, 2013
Rapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro).
Yuca SA et al.
European Journal of Medical Genetics, 2012
Diabetes and neurodegeneration in Wolfram syndrome: a multicenter study of phenotype and genotype.
Rohayem J et al.
Diabetes Care, 2011
Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.
Rendtorff ND et al.
American Journal of Medical Genetics. Part A, 2011
The E3 ligase Smurf1 regulates Wolfram syndrome protein stability at the endoplasmic reticulum.
Guo X et al.
The Journal of Biological Chemistry, 2011
Neurologic features and genotype-phenotype correlation in Wolfram syndrome.
Chaussenot A et al.
Annals of Neurology, 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
Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene.
Giuliano F et al.
Human Mutation, 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
Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product.
Hofmann S et al.
Human Molecular Genetics, 2003
[From gene to disease; mutations in the WFS1-gene as the cause of juvenile type I diabetes mellitus with optic atrophy (Wolfram syndrome)].
Pennings RJ et al.
Nederlands Tijdschrift Voor Geneeskunde, 2002
Sex-related hearing impairment in Wolfram syndrome patients identified by inactivating WFS1 mutations.
Pennings RJ et al.
Audiology & Neuro-otology, 0
Expressional and functional studies of Wolframin, the gene function deficient in Wolfram syndrome, in mice and patient cells.
Philbrook C et al.
Experimental Gerontology, 0
Variable Expressivity of Wolfram Syndrome in a Family with Multiple Affected Subjects.
Mirrahimi M et al.
Journal of Ophthalmic & Vision Research, 0