Results 61 to 70 of about 5,313 (208)

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

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

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

Gonadal function in males with WFS1 spectrum disorder (Wolfram syndrome)—A European cohort perspective

Andrology
WFS1 spectrum disorder, also known as Wolfram syndrome (WS) is an ultra‐rare (
J. Rohayem, O. Cunningham, Denise Williams, J. Wistuba, Liam McCarthy, T. Barrett, R. P. Dias   +6 more
semanticscholar   +1 more source

Generation of induced pluripotent stem cells (IBMSi027-A) from a patient with hearing loss carrying WFS1 c.2051C > T (p.Ala684Val) variant

Stem Cell Research, 2023
Pathogenic variants of the WFS1 gene can cause recessive-inherited Wolfram syndrome or dominant-inherited Wolfram-like syndrome with optic atrophy and hearing impairment. Using the Sendai virus delivery system, we generated induced pluripotent stem cells
Yen-Hui Chan, Cheng-Yu Tsai, Chang-Han Ho, Ying-Chang Lu, Pei-Hsuan Lin, Ta-Ching Chen, You-Tzung Chen, Cheng-Yen Huang, Tien-Chen Liu, Chuan-Jen Hsu, Chen-Chi Wu   +10 more
doaj   +1 more source

Anti-inflammatory effects of WFS1 in pancreatic β-cells [PDF]

, 2022
Abstract Wolfram syndrome is a rare genetic disorder characterized by juvenile-onset diabetes mellitus, optic nerve atrophy, hearing loss, diabetes insipidus, and progressive neurodegeneration. Pathogenic variants in the WFS1 gene are the main causes of Wolfram syndrome.
Shuntaro Morikawa, Lindsey Blacher, Chinyere Onwumere, Fumihiko Urano   +3 more
openaire   +1 more source

MyoD1 localization at the nuclear periphery is mediated by association of WFS1 with active enhancers

Nature Communications
Spatial organization of the mammalian genome influences gene expression and cell identity. While association of genes with the nuclear periphery is commonly linked to transcriptional repression, also active, expressed genes can localize at the nuclear ...
Konstantina Georgiou, Fatih Sarigol, Tobias Nimpf, Christian Knapp, Daria Filipczak, Roland Foisner, Nana Naetar   +6 more
semanticscholar   +1 more source

WFS1 promoter is activated by valproate.

, 2013
SH-SY5Y cells were transfected with a reporter plasmid containing 500 bases of the WFS1 promoter driving the luciferase gene (pGL3-WFS1-long), a control reporter plasmid containing only 60 bases of the WFS1 promoter (pGL3-WFS1-short), or control plasmid (
Shinsuke Ishigaki (133010), Tadafumi Kato (19147), Sonya G. Fonseca (375193), Chihiro Kakiuchi (375191), Christine M. Oslowski (375192), Fumihiko Urano (40695)   +5 more
core   +1 more source