Results 1 to 10 of about 1,191 (166)

Exenatide Is an Effective Antihyperglycaemic Agent in a Mouse Model of Wolfram Syndrome 1

Journal of Diabetes Research, 2016
Wolfram syndrome 1 is a very rare monogenic disease resulting in a complex of disorders including diabetes mellitus. Up to now, insulin has been used to treat these patients. Some of the monogenic forms of diabetes respond preferentially to sulphonylurea
Tuuli Sedman, Kertu Rünkorg, Maarja Krass, Hendrik Luuk, Mario Plaas, Eero Vasar, Vallo Volke   +6 more
doaj   +2 more sources

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

Male mice with deleted Wolframin (Wfs1) gene have reduced fertility [PDF]

Reproductive Biology and Endocrinology, 2009
Background Wolfram Syndrome (WS) is an autosomal recessive disorder characterised by non-autoimmune diabetes mellitus, optic atrophy, cranial diabetes insipidus and sensorineural deafness. Some reports have described hypogonadism in male WS patients. The
Aunapuu Marina, Arend Andres, Kavak Ants, Kõks Sulev, Noormets Klari, Keldrimaa Aivi, Vasar Eero, Tillmann Vallo   +7 more
doaj   +3 more sources

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 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

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