Results 21 to 30 of about 3,346,977 (142)

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

The molecular effect of a polymorphic microRNA binding site of Wolfram syndrome 1 gene in dogs

BMC Genetics, 2020
Background Although the molecular function of wolframin remains unclear, the lack of this protein is known to cause stress in the endoplasmic reticulum.
Dora Koller, Eniko Kubinyi, Zsuzsanna Elek, Helga Nemeth, Adam Miklosi, Maria Sasvari-Szekely, Zsolt Ronai   +6 more
doaj   +1 more source

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

MCT1-dependent energetic failure and neuroinflammation underlie optic nerve degeneration in Wolfram syndrome mice

eLife, 2023
Wolfram syndrome 1 (WS1) is a rare genetic disorder caused by mutations in the WFS1 gene leading to a wide spectrum of clinical dysfunctions, among which blindness, diabetes, and neurological deficits are the most prominent.
Greta Rossi, Gabriele Ordazzo, Niccolò N Vanni, Valerio Castoldi, Angelo Iannielli, Dario Di Silvestre, Edoardo Bellini, Letizia Bernardo, Serena G Giannelli, Mirko Luoni, Sharon Muggeo, Letizia Leocani, PierLuigi Mauri, Vania Broccoli   +13 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

Localization and distribution of wolframin in human female reproductive tract [PDF]

, 2011
Wolframin, a transmembrane glycoprotein of endoplasmic reticulum consisting of 890 amino acids, is encoded by the WFS1 gene, mutated in the Wolfram syndrome.
Lucariello, Angela, De Falco, Maria, Perna, Angelica, Manente, Lucrezia, De Luca, Antonio, Palladino, Rosanna   +5 more
core   +1 more source

Studying protein-protein interactions using peptide arrays [PDF]

, 2010
Screening of arrays and libraries of compounds is well-established as a high-throughput method for detecting and analyzing interactions in both biological and chemical systems. Arrays and libraries can be composed from various types of molecules, ranging
Rito, T., Rudiger, S.G.D., Sub Cellular Protein Chemistry, Rotem-Bamberger, S., Katz, C., Friedler, A., Levy-Beladev, L., Cellular Protein Chemistry   +7 more
core   +1 more source

Multiple Retinal Anomalies in Wfs1-Deficient Mice

Diagnostics, 2020
Background: Wolfram syndrome (WFS, OMIM: #222300) is an ultrarare autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic nerve atrophy and deafness.
Arleta Waszczykowska, Agnieszka Zmysłowska, Marcin Braun, Marilin Ivask, Sulev Koks, Piotr Jurowski, Wojciech Młynarski   +6 more
doaj   +1 more source