Associated Papers
Defects of WFS1-mediated peptide hormones secretion contribute to the manifestations of Wolfram syndrome.
Li S et al.
Life Sciences, 2024
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
Neurosensory Affectation in Patients Affected by Wolfram Syndrome: Descriptive and Longitudinal Analysis.
Esteban-Bueno G et al.
Healthcare (basel, Switzerland), 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
Common and rare variants in patients with early onset drusen maculopathy.
de Breuk A et al.
Clinical Genetics, 2022
The Impact of Mutations in Wolframin on Psychiatric Disorders.
Munshani S et al.
Frontiers in Pediatrics, 2021
Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.
Zhou Y et al.
Bmc Medical Genetics, 2020
Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome.
La Morgia C et al.
Scientific Reports, 2020
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.
Astuti D et al.
Human Mutation, 2017
Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.
Cereda M et al.
Nature Communications, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.
Fogel BL et al.
Jama Neurology, 2014
WFS1 variants in Finnish patients with diabetes mellitus, sensorineural hearing impairment or optic atrophy, and in suicide victims.
Kytövuori L et al.
Journal of Human Genetics, 2013
WS1 gene mutation analysis of Wolfram syndrome in a Chinese patient and a systematic review of literatures.
Yu G et al.
Endocrine, 2010
Detailed investigation of the role of common and low-frequency WFS1 variants in type 2 diabetes risk.
Fawcett KA et al.
Diabetes, 2010
Wolframin gene H611R polymorphism: no direct association with suicidal behavior but possible link to mood disorders.
Zalsman G et al.
Progress in Neuro-psychopharmacology & Biological Psychiatry, 2009
Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1.
Hildebrand MS et al.
American Journal of Medical Genetics. Part A, 2008
Wolframin mutations and hospitalization for psychiatric illness.
Swift M et al.
Molecular Psychiatry, 2005
Phenotype-genotype correlations in a series of wolfram syndrome families.
Smith CJ et al.
Diabetes Care, 2004
Genetic variations in the WFS1 gene in Japanese with type 2 diabetes and bipolar disorder.
Kawamoto T et al.
Molecular Genetics and Metabolism, 2004
Evidence for linkage on chromosome 4p16.1 in Type 1 diabetes Danish families and complete mutation scanning of the WFS1 (Wolframin) gene.
Larsen ZM et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2004
Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease.
Cryns K et al.
Human Mutation, 2003
Multicentre Italian family-based association study on tyrosine hydroxylase, catechol-O-methyl transferase and Wolfram syndrome 1 polymorphisms in mood disorders.
Serretti A et al.
Psychiatric Genetics, 2003
No association of mutations and mRNA expression of WFS1/wolframin with bipolar disorder in humans.
Kato T et al.
Neuroscience Letters, 2003
Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family.
Komatsu K et al.
Journal of Human Genetics, 2002
Wolfram syndrome: a clinical and molecular genetic analysis.
Eller P et al.
Journal of Medical Genetics, 2001
WFS1/wolframin mutations, Wolfram syndrome, and associated diseases.
Khanim F et al.
Human Mutation, 2001
Mutation screening of the Wolfram syndrome gene in psychiatric patients.
Torres R et al.
Molecular Psychiatry, 2001
Psychiatric disorders and mutations at the Wolfram syndrome locus.
Swift M et al.
Biological Psychiatry, 2000
A rare coding variant within the wolframin gene in bipolar and unipolar affective disorder cases.
Furlong RA et al.
Neuroscience Letters, 1999