Results 11 to 20 of about 5,313 (208)

WFS1-related isolated diabetes induced by a WFS1 missense mutation: focus on the isolated diabetes phenotype [PDF]

Orphanet Journal of Rare Diseases
Background Wolfram syndrome is a rare disease caused by the mutation of WFS1 gene, characterized as s spectrum of disorders. We aim to investigate the clinical features and pathogenic mechanisms of a WFS1 missense mutation inducing atypical phenotype ...
Mei Huang, Qianying Wei, Yao Qin, Lu Qin, Ying Shao, Suyu Wang, Xinyi Qu, Tao Yang, Mei Zhang   +8 more
doaj   +5 more sources

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.
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   +4 more sources

WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression [PDF]

American Journal of Ophthalmology, 2022
\ua9 2022 The Author(s)OBJECTIVE: To evaluate the pattern of vision loss and genotype-phenotype correlations in WFS1-associated optic neuropathy (WON). DESIGN: Multicenter cohort study. METHODS: The study involved 37 patients with WON carrying pathogenic
Neveu MM, Subash M, Bitner-Glindzicz M, Kelly S, Stockman A, Jurkute N, Webster AR, Robson AG, Joao C, Chinnery PF, Huang H, Burte F, Majander A, Yu-Wai-Man P, Michaelides M, Lai YT, Duncan HJ, Burkitt-Wright E, Chan CM, Brock K, Arno G, Khoyratty F, Moore AT   +22 more
core   +13 more sources

Molecular characterization of WFS1 in patients with Wolfram syndrome. [PDF]

The Journal of Molecular Diagnostics, 2003
Item does not contain fulltextWolfram (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness) syndrome is a rare autosomal-recessive neurodegenerative disorder that is characterized by juvenile-onset diabetes mellitus, optic atrophy ...
Maassen, J.A., Van Camp, G, Dikkeschei, L.D., Van den Ouweland, JMW, Camp, G. van, Walraven, Inge, Cryns, Kim, Lindhout, Dick, Lindhout, D, Alexander B. Arntzenius, Veldhuijzen, Bernard F.E., Janssen, G.M., Janssen, GMC, Cremers, C.W.R.J., Inge Walraven, Lindhout, D., van den Ouweland, Johannes M.W., Cryns, K., Lambert D. Dikkeschei, Cryns, K, Veldhuijzen, B.F., Johannes M.W. Van Den Ouweland, Pennings, R.J.E., Ouweland, J.M.W. van den, Bernard F.E. Veldhuijzen, Maassen, J. Antonie, Dick Lindhout, Cremers, Cor W.R.J., Dikkeschei, Lambert D., J. Antonie Maassen, Walraven, I., Walraven, [No Value], Arntzenius, AB, Pennings, Ronald J.E., Arntzenius, Alexander B., Kim Cryns, Dikkeschei, LD, George M.C. Janssen, Arntzenius, A.B., Ronald J.E. Pennings, Veldhuijzen, BFE, Janssen, George M.C., Cor W.R.J. Cremers, Pennings, RJE, Maassen, JA, Van Camp, Guy, Guy Van Camp, Cremers, CWRJ   +47 more
core   +6 more sources

Common variants in WFS1 confer risk of type 2 diabetes [PDF]

Nature Genetics, 2007
We studied genes involved in pancreatic β cell function and survival, identifying associations between SNPs in WFS1 and diabetes risk in UK populations that we replicated in an Ashkenazi population and in additional UK studies.
Wasson, J, Sally L Debenham, Sherva, R, Manjinder S Sandhu, Daly, Allan, Allan Daly, Weedon, Michael N., Weedon, MN, Hana Lango, Morris, Andrew D., Nicholas J Wareham, Richard Sherva, Timothy M Frayling, Barroso, I, Mark Walker, Tavendale, R, Debenham, Sally L., Palmer, Colin N A, Hitman, G, Neumann, RJ, Palmer, Colin N.A.; id_orcid, Sandhu, MS, Sandhu, Manjinder S., Kimber, C, Hattersley, Andrew T., Permutt, M. Alan, Glaser, Benjamin, Graham Hitman, Wareham, Nicholas J., Fawcett, Katherine A., Colin N A Palmer, Inês Barroso, Sherva, Richard, Lango, H, Debenham, SL, Andrew D Morris, Tavendale, Roger, Michael N Weedon, Ilana Blech, Permutt, MA, Walker, Mark, Paul D Pharoah, Palmer, CN, Hattersley, AT, Pharoah, Paul D., McCarthy, MI, Hitman, Graham, Blech, Ilana, Mark I McCarthy, Barroso, Inês, Walker, M, Fawcett, KA, Wasson, Jon, Kimber, Charlotte, Frayling, Timothy M., Glaser, B, Roger Tavendale, Blech, I, Andrew T Hattersley, M Alan Permutt, Lango, Hana, Morris, AD, Benjamin Glaser, Neumann, Rosalind J., McCarthy, Mark I., Jon Wasson, Daly, A, Wareham, NJ, Pharoah, PD, Frayling, TM, Rosalind J Neumann, Katherine A Fawcett, Charlotte Kimber   +72 more
core   +5 more sources

Wfs1E864K knock-in mice illuminate the fundamental role of Wfs1 in endocochlear potential production

Cell Death & 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, E. Brun, Julia Korchagina, Lucie Crouzier, C. Affortit, Stacy Alves, C. Cazevieille, Anne-Laure Mausset-Bonnefont, M. Lenoir, J. Puel, T. Maurice, M. Thiry, Jing Wang, B. Delprat   +13 more
semanticscholar   +5 more sources

The genetic and clinical characteristics of WFS1 related diabetes in Chinese early onset type 2 diabetes

Scientific Reports, 2023
Diabetes is one of the most common phenotypes of Wolfram syndrome owing to the presence of the variants of the WFS1 gene and is often misdiagnosed as other types of diabetes.
Yating Li, Siqian Gong, Meng Li, Xiaoling Cai, Wei Liu, Simin Zhang, Yumin Ma, Yingying Luo, Lingli Zhou, Xiuying Zhang, Xiuting Huang, Xueying Gao, Mengdie Hu, Yufeng Li, Qian Ren, Yanai Wang, Xianghai Zhou, Xueyao Han, Linong Ji   +18 more
doaj   +2 more sources

Selective proteasome degradation of C‐terminally‐truncated human WFS1 in pancreatic beta cells

FEBS Open Bio, 2023
Wolfram syndrome is a monogenic disease mainly caused by mutations in the WFS1 gene. Mutations in the WFS1 gene give rise to diabetes. Here, we characterized mutant WFS1 proteins by studying the stability of full‐length wild‐type (WT) WFS1, a missense ...
Hiraku Tokuma, Daisuke Sakano, Katsuya Tanabe, Yukio Tanizawa, Nobuaki Shiraki, Shoen Kume   +5 more
doaj   +2 more sources

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   +2 more sources

Prohormone convertase 2 activity is increased in the hippocampus of Wfs1 knockout mice [PDF]

Frontiers in Molecular Neuroscience, 2015
BackgroundMutations in WFS1 gene cause Wolfram syndrome, which is a rare autosomal recessive disorder, characterized by diabetes insipidus, diabetes mellitus, optic nerve atrophy and deafness (DIDMOAD).
Karin eTein, Sergo eKasvandik, Sulev eKõks, Eero eVasar, Anton eTerasmaa   +4 more
doaj   +2 more sources