Associated Papers
Phenotype Correlations of Neurological Manifestations in Wolfram Syndrome: Predictive Modeling in a Spanish Cohort.
Esteban-Bueno G et al.
Diagnostics (basel, Switzerland), 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
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
Population-specific putative causal variants shape quantitative traits.
Koyama S et al.
Nature Genetics, 2024
Investigation of Monogenic Diabetes Genes in Thai Children with Autoantibody Negative Diabetes Requiring Insulin.
Teerawattanapong N et al.
Diabetes, Metabolic Syndrome and Obesity : Targets and Therapy, 2024
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
Neurosensory Affectation in Patients Affected by Wolfram Syndrome: Descriptive and Longitudinal Analysis.
Esteban-Bueno G et al.
Healthcare (basel, Switzerland), 2023
WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome.
Lim HD et al.
Bmc Medical Genomics, 2023
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
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
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency.
Rim JH et al.
Scientific Reports, 2019
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
Azaiez H et al.
American Journal of Human Genetics, 2018
WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis.
Kobayashi M et al.
Plos One, 2018
Early-onset urological disorders due to Wolfram syndrome: A case of neonatal onset.
Fukuma M et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Identification of a novel missense mutation in the WFS1 gene as a cause of autosomal dominant nonsyndromic sensorineural hearing loss in all-frequencies.
Bai X et al.
American Journal of Medical Genetics. Part A, 2014
A low-frequency GLIS3 variant associated with resistance to Japanese type 1 diabetes.
Awata T et al.
Biochemical and Biophysical Research Communications, 2013
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
Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families.
Baek JI et al.
Orphanet Journal of Rare Diseases, 2012
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
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
Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese.
Fukuoka H et al.
Journal of Human Genetics, 2007
A mutation in Wolfram syndrome type 1 gene in a Japanese family with autosomal dominant low-frequency sensorineural hearing loss.
Noguchi Y et al.
Acta Oto-laryngologica, 2005
Genetic variations in the WFS1 gene in Japanese with type 2 diabetes and bipolar disorder.
Kawamoto T et al.
Molecular Genetics and Metabolism, 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
WFS1/wolframin mutations, Wolfram syndrome, and associated diseases.
Khanim F et al.
Human Mutation, 2001
WFS1 gene mutation search in depressive patients: detection of five missense polymorphisms but no association with depression or bipolar affective disorder.
Ohtsuki T et al.
Journal of Affective Disorders, 2000