Results 11 to 20 of about 3,590,629 (137)

A novel WFS1 mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findings [PDF]

BMC Medical Genetics, 2008
Background Low frequency sensorineural hearing loss (LFSNHL) is an uncommon clinical finding. Mutations within three different identified genes (DIAPH1, MYO7A, and WFS1) are known to cause LFSNHL.
Verrall Aimee M, Kallman Jeremy C, Bramhall Naomi F, Street Valerie A   +3 more
doaj   +3 more sources

Developmental hypomyelination in Wolfram syndrome: new insights from neuroimaging and gene expression analyses [PDF]

Orphanet Journal of Rare Diseases, 2019
Wolfram syndrome is a rare multisystem disorder caused by mutations in WFS1 or CISD2 genes leading to brain structural abnormalities and neurological symptoms. These abnormalities appear in early stages of the disease.
Amjad Samara, Rachel Rahn, Olga Neyman, Ki Yun Park, Ahmad Samara, Bess Marshall, Joseph Dougherty, Tamara Hershey   +7 more
doaj   +2 more sources

Mutation analysis of wolfram syndrome patients and functional study of the Wolframin protein [PDF]

, 2013
Mutations of the WFS1 gene are responsible for most cases of Wolfram syndrome (WS), a rare, recessively inherited neurodegenerative disorder characterised by juvenile-onset nonautoimmune diabetes mellitus and optic atrophy.
Prince, Samantha
core   +7 more sources

Recent advances in pancreatic β-cell dysfunction in type 2 diabetes mellitus: Intracellular stress and dedifferentiation. [PDF]

J Diabetes Investig
Journal of Diabetes Investigation, Volume 17, Issue 8, Page 1254-1256, August 2026.
Kido N, Asahara SI.
europepmc   +2 more sources

Could R-Ketamine and Wolfram Syndrome Inform Understanding of Depression and Suicidality? A Sigma-1 Receptor-Based Perspective. [PDF]

Hum Psychopharmacol
ABSTRACT Loss of function mutations in the WFS1 gene cause Wolfram syndrome, which is characterized by juvenile‐onset diabetes mellitus, diabetes insipidus, neurodegeneration, hearing loss and optic nerve atrophy. Psychiatric symptoms, including major depression and suicidal behavior, are common in this disorder.
Kalkman HO, Smigielski L.
europepmc   +2 more sources

NCS1 overexpression restored mitochondrial activity and behavioral alterations in a zebrafish model of Wolfram syndrome

Molecular Therapy: Methods & Clinical Development, 2022
Wolfram syndrome (WS) is a rare neurodegenerative disease resulting in deafness, optic atrophy, diabetes, and neurological disorders. Currently, no treatment is available for patients. The mutated gene, WFS1, encodes an endoplasmic reticulum (ER) protein,
Lucie Crouzier, Elodie M. Richard, Camille Diez, Morgane Denus, Amandine Peyrel, Hala Alzaeem, Nicolas Cubedo, Thomas Delaunay, Tangui Maurice, Benjamin Delprat   +9 more
doaj   +1 more source

Topology of <i>WFS1</i> Variants Linked With Islet Function and Higher Risk of Urological Symptoms in <i>WFS1</i>-Associated Disease. [PDF]

Pediatr Diabetes
Wolfram syndrome type 1 gene (WFS1), which encodes a transmembrane (TM) structural protein (wolframin), is essential for several biological processes. Mutations of WFS1, autosomal dominant or recessive inherited, are related to a broad clinical spectrum. Molecular genetic tests were performed, and clinical phenotypes of three WFS1‐associated cases were
Zhang JJ, Dai TT, Wang JQ, Yin MY, Yang YY, Jiang L, Xia BJ, Cui ZZ, Lu WL, Hu RG, Li CY, Dong ZY, Xiao Y.   +12 more
europepmc   +2 more sources

Identification of pathogenic mutations for a Wolfram syndrome pedigree by whole exome sequencing and analysis of its clinical characteristics

Shanghai Jiaotong Daxue xuebao. Yixue ban, 2023
Objective·To identify the causative gene and mutations and describe the clinical traits in a Chinese diabetes pedigree suspected of Wolfram syndrome.Methods·A total of 12 subjects from one family were included.
MENG Xiangyu, YAN Dandan, CHEN Xianghui, LAI Siyu, XU Yun, GENG Ruina, ZHANG Hong, ZHANG Rong, HU Cheng, YAN Jing   +9 more
doaj   +1 more source

Genomics of Wolfram Syndrome 1 (WFS1)

Biomolecules, 2023
Wolfram Syndrome (WFS) is a rare, autosomal, recessive neurogenetic disorder that affects many organ systems. It is characterised by diabetes insipidus, diabetes mellites, optic atrophy, and deafness and, therefore, is also known as DIDMOAD.
Sulev Kõks
doaj   +1 more source

Case Report: A novel mutation in WFS1 gene (c.1756G>A p.A586T) is responsible for early clinical features of cognitive impairment and recurrent ischemic stroke

Frontiers in Genetics, 2023
Wolfram syndrome 1 (WFS1) gene mutations can be dominantly or recessively inherited, and the onset of the clinical picture is highly heterogeneity in both appearance and degree of severity.
Yuan Chen, Yuan Chen, Yuan Chen, Miao Zhang, Miao Zhang, Miao Zhang, Yuying Zhou, Yuying Zhou, Yuying Zhou, Pan Li, Pan Li, Pan Li   +11 more
doaj   +1 more source