Results 61 to 70 of about 5,423 (216)

Loss of Function of WFS1 Causes ER Stress-Mediated Inflammation in Pancreatic Beta-Cells

Frontiers in Endocrinology, 2022
Wolfram syndrome is a rare genetic disorder characterized by juvenile-onset diabetes mellitus, optic nerve atrophy, hearing loss, diabetes insipidus, and progressive neurodegeneration.
Shuntaro Morikawa, Shuntaro Morikawa, Lindsey Blacher, Chinyere Onwumere, Fumihiko Urano, Fumihiko Urano   +5 more
doaj   +1 more source

Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum.

Survey of ophthalmology, 2023
Wolfram-like syndrome (WFLS) is a recently described autosomal dominant disorder with phenotypic similarities to autosomal recessive Wolfram syndrome (WS), including optic atrophy, hearing impairment, and diabetes mellitus.
C. de Muijnck, J. T. ten Brink, A. Bergen, C. Boon, M. V. van Genderen   +4 more
semanticscholar   +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

Wfs1 deficiency leads to dampened locomotor rhythm.

, 2023
Wfs1 deficiency leads to dampened locomotor rhythm.
Huanfeng Hao (16484819), Li Song (34475), Luoying Zhang (223659)   +2 more
core   +1 more source

Calcium Signaling and Contractility in Cardiac Myocyte of Wolframin Deficient Rats

Frontiers in Physiology, 2019
Wolframin (Wfs1) is a membrane protein of the sarco/endoplasmic reticulum. Wfs1 mutations are responsible for the Wolfram syndrome, characterized by diabetic and neurological symptoms. Although Wfs1 is expressed in cardiac muscle, its role in this tissue
Michal Cagalinec, Michal Cagalinec, Michal Cagalinec, Alexandra Zahradníková, Alexandra Zahradníková, Alexandra Zahradníková, Alexandra Zahradníková, Dominika Kováčová, Ludovit Paulis, Ludovit Paulis, Simona Kureková, Matej Hot’ka, Matej Hot’ka, Jana Pavelková, Jana Pavelková, Mario Plaas, Marta Novotová, Marta Novotová, Ivan Zahradník, Ivan Zahradník   +19 more
doaj   +1 more source

Novel mutations in the WFS1 gene are associated with Wolfram syndrome and systemic inflammation [PDF]

, 2021
Mutations in the WFS1 gene, encoding wolframin (WFS1), cause endoplasmic reticulum (ER) stress and are associated with a rare autosomal-recessive disorder known as Wolfram syndrome (WS). WS is clinically characterized by childhood-onset diabetes mellitus,
Frontino, Giulio, Gargaro, Marco, Puccetti, Paolo, Mondanelli, Giada, Belladonna, Maria L, Prontera, Paolo, Tirelli, Eva, Orecchini, Elena, Proietti, Elisa, Fallarino, Francesca, Grohmann, Ursula, Vacca, Carmine, Pallotta, Maria T, Panfili, Eleonora, Orabona, Ciriana, Esposito, Susanna, Iacono, Alberta   +16 more
core   +3 more sources

WFS1 deficiency impairs mitochondrial dynamics.

, 2016
(A) Primary cortical neurons were transfected with the photoconvertible mitochondrially targeted construct mito-Kikume-Green and scrambled shRNA or Wfs1 shRNA.
Mailis Liiv (3151065), Michal Cagalinec (3151077), Allen Kaasik (504365), Zuzana Hodurova (3151083), Vinay Choubey (3151080), Annika Vaarmann (321196), Akbar Zeb (3151071), Malle Kuum (3151074), Vladimir Veksler (201015), Miriam Ann Hickey (3151068), Merle Mandel (578705), Dzhamilja Safiulina (504364), Eero Vasar (91530)   +12 more
core   +1 more source

Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report

BMC Medical Genetics, 2020
Background Mutations of the WFS1 gene are responsible for most cases of Wolfram syndrome (WS), a rare, recessively inherited neurodegenerative disorder characterized by juvenile-onset non-autoimmune diabetes mellitus and optic atrophy.
Maryam Sobhani, Mohammad Amin Tabatabaiefar, Soudeh Ghafouri-Fard, Asadollah Rajab, Asal Hojjat, Abdol-Mohammad Kajbafzadeh, Mohammad Reza Noori-Daloii   +6 more
doaj   +1 more source

Identification of Three Novel and One Known Mutation in the WFS1 Gene in Four Unrelated Turkish Families: The Role of Homozygosity Mapping in the Early Diagnosis

JCRPE, 2021
Objective:Bi-allelic mutations in the wolframin gene (WFS1) cause Wolfram syndrome 1 (WS1 or DIDMOAD) characterized by non-autoimmune diabetes mellitus, optic atrophy, diabetes insipidus, sensorineural deafness, urinary tract abnormalities, and ...
Maha Sherif, Hüseyin Demirbilek, Atilla Çayır, Sophia Tahir, Büşra Çavdarlı, Meliha Demiral, Ayşe Nurcan Cebeci, Doğuş Vurallı, Sofia Asim Rahman, Edip Unal, Gönül Büyükyılmaz, Riza Taner Baran, Mehmet Nuri Özbek, Khalid Hussain   +13 more
doaj   +1 more source

Phenotype Prediction of Pathogenic Nonsynonymous Single Nucleotide Polymorphisms in WFS1 [PDF]

Scientific Reports, 2015
AbstractWolfram syndrome (WS) is a rare, progressive, neurodegenerative disorder that has an autosomal recessive pattern of inheritance. The gene for WS, wolfram syndrome 1 gene (WFS1), is located on human chromosome 4p16.1 and encodes a transmembrane protein.
Xuli Qian, Luyang Qin, Guangqian Xing, Xin Cao   +3 more
openaire   +2 more sources