Results 21 to 30 of about 384 (136)

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

Micro-RNA Binding Site Polymorphisms in the WFS1 Gene Are Risk Factors of Diabetes Mellitus. [PDF]

PLoS ONE, 2015
The absolute or relative lack of insulin is the key factor in the pathogenesis of diabetes mellitus. Although the connection between loss of function mutations of the WFS1 gene and DIDMOAD-syndrome including diabetes mellitus underpins the significance ...
Zsuzsanna Elek, Nóra Németh, Géza Nagy, Helga Németh, Anikó Somogyi, Nóra Hosszufalusi, Mária Sasvári-Székely, Zsolt Rónai   +7 more
doaj   +1 more source

Relato de um paciente brasileiro com síndrome de Wolfram Report of a Brazilian patient with Wolfram syndrome

Jornal de Pediatria, 2002
Objetivos: relatar o caso de um paciente com diagnóstico de síndrome de Wolfram (SW) e braquidactilia do tipo E. A síndrome de Wolfram é caracterizada pela presença de diabetes melito, diabetes insípido, atrofia do nervo óptico, alterações do trato ...
Paulo R.G. Zen, Louise L.C. Pinto, Ida V.D. Schwartz, Timothy G. Barrett, Giorgio Paskulin   +4 more
doaj   +1 more source

Wfs1 E864K knock-in mice illuminate the fundamental role of Wfs1 in endocochlear potential production

Cell Death and Disease, 2023
Wolfram syndrome (WS) is a rare neurodegenerative disorder encompassing diabetes mellitus, diabetes insipidus, optic atrophy, hearing loss (HL) as well as neurological disorders.
Elodie M. Richard, Emilie Brun, Julia Korchagina, Lucie Crouzier, Corentin Affortit, Stacy Alves, Chantal Cazevieille, Anne-Laure Mausset-Bonnefont, Marc Lenoir, Jean-Luc Puel, Tangui Maurice, Marc Thiry, Jing Wang, Benjamin Delprat   +13 more
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

Wolfram syndrome: new pathophysiological insights and therapeutic strategies

Therapeutic Advances in Rare Disease, 2021
Wolfram Syndrome (WS) is an ultra-rare, progressive neurodegenerative disease characterized by early-onset diabetes mellitus and irreversible loss of vision, secondary to optic nerve degeneration.
Ratnakar Mishra, Benson S. Chen, Prachi Richa, Patrick Yu-Wai-Man   +3 more
doaj   +1 more source

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

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   +1 more source

A case of a mild Wolfram Syndrome with concomitant ATP7B mutation [PDF]

CellR4, 2019
Background: Wolfram Syndrome 1 (WS1) has been characterized on the basis of mutation in the WFS1 gene encoding a calcium storage wolframin endoplasmatic reticulum transmembrane glycoprotein.
R. Squitti, G. Cerchiaro, I. Giovannoni, P. Francalanci, M. Siotto, P. Maffei, C. Ricordi, M. Rongioletti   +7 more
doaj   +1 more source

GLP-1 receptor agonists as promising disease-modifying agents in WFS1 spectrum disorder

Frontiers in Clinical Diabetes and Healthcare, 2023
WFS1 spectrum disorder (WFS1-SD) is a rare monogenic neurodegenerative disorder whose cardinal symptoms are childhood-onset diabetes mellitus, optic atrophy, deafness, diabetes insipidus, and neurological signs ranging from mild to severe.
Eleonora Panfili, Giulio Frontino, Maria Teresa Pallotta   +2 more
doaj   +1 more source

Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness

Scientific Reports, 2022
To analyse the pathogenic genes and mutations of a family with hereditary deafness. We recruited a three-generation family with NSHL. A detailed medical history inquiry and related examinations were performed. Next-generation sequencing (NGS) was used to
Jing Zhao, Siqi Zhang, Yuan Jiang, Yan Liu, Jiantao Wang, QingWen Zhu   +5 more
doaj   +1 more source