Results 41 to 50 of about 2,696,264 (156)

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

Recent advances in pancreatic β-cell dysfunction in type 2 diabetes mellitus: Intracellular stress and dedifferentiation. [PDF]

J Diabetes Investig
Journal of Diabetes Investigation, Volume 17, Issue 8, Page 1254-1256, August 2026.
Kido N, Asahara SI.
europepmc   +2 more sources

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

Complex clinical manifestations and new insights in RNA sequencing of children with diabetes and WFS1 variants

Frontiers in Endocrinology, 2023
BackgroundWFS1-related disorders involve a wide range of clinical phenotypes, including diabetes mellitus and neurodegeneration. Inheritance patterns of pathogenic variants of this gene can be autosomal recessive or dominant, and differences in ...
Yu Ding, Zhe Li, Qianwen Zhang, Niu Li, Guoying Chang, Yirou Wang, Xin Li, Juan Li, Qun Li, Ru-en Yao, Xin Li, Xiumin Wang   +11 more
doaj   +1 more source

Identification of novel mutations of the WFS1 gene in Brazilian patients with Wolfram syndrome [PDF]

, 2009
Objective: Wolfram syndrome (WS) is a rare, progressive, neurodegenerative disorder with an autosomal recessive pattern of inheritance. The gene for WS, WFS1, was identified on chromosome 4p16 and most WS patients carry mutations in this gene.
Guedes, Aléxis Dourado, MANNA, Thais Della, MOISES, Regina S., Paula, Sílvia, GASPARIN, Maria Regina R., Guedes, Alexis [UNIFESP], Salim, Camila Pitanga Calil, Moisés, Regina Célia Melo Santiago, Della Manna, Thais, SALIM, Camila P., Salles, Joao Eduardo Nunes, CRISPIM, Felipe, Gasparin, Maria Regina R. [UNIFESP], Moises, Regina S. [UNIFESP], Dalbosco, Ivaldir Sabino, Salim, Camila P. [UNIFESP], Freire, Maria Beatriz Sayeg, Marcantonio, João, Gambine, Márcio, Gaparin, Maria Regina Franco Ribeiro, DALBOSCO, Ivaldir S., Crispim, Felipe [UNIFESP], Dalbosco, Ivaldir Sabino [UNIFESP], GUEDES, Alexis, Salles, Joao Eduardo N., Freire, Maria Beatriz S., Gasparin, Fabio, Marcantonio, Joao M., Paula, Silvia L., Gambini, Marcio   +29 more
core   +1 more source

Effect of Chronic Valproic Acid Treatment on Hepatic Gene Expression Profile in Wfs1 Knockout Mouse

PPAR Research, 2014
Valproic acid (VPA) is a widely used anticonvulsant and mood-stabilizing drug whose use is often associated with drug-induced weight gain. Treatment with VPA has been shown to upregulate Wfs1 expression in vitro.
Marite Punapart, Mall Eltermaa, Julia Oflijan, Silva Sütt, Anne Must, Sulev Kõks, Leonard C. Schalkwyk, Catherine Fernandes, Eero Vasar, Ursel Soomets, Anton Terasmaa   +10 more
doaj   +1 more source

The Impact of Mutations in Wolframin on Psychiatric Disorders

Frontiers in Pediatrics, 2021
Wolfram Syndrome is a rare autosomal recessive disease characterized by early-onset diabetes mellitus, neurodegeneration, and psychological disorders. Mutations in the gene WFS1, coding for the protein wolframin, cause Wolfram Syndrome and are associated
Saira Munshani, Eiman Y. Ibrahim, Eiman Y. Ibrahim, Ilaria Domenicano, Barbara E. Ehrlich   +4 more
doaj   +1 more source

The immunological and prognostic significance of the diabetes mellitus-related gene WFS1 in endometrial cancer

Frontiers in Immunology
BackgroundDiabetes is associated with the incidence and prognosis of various malignancies, most notably endometrial cancer (EC). This study investigated the connection between diabetes and EC, with a specific focus on elucidating the biological ...
Wenzhe Li, Da Ke, Yi Xu, Ya Wang, Ya Wang, Qian Wang, Jie Tan, Hongyan Wu, Xianglin Cheng   +8 more
doaj   +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

A novel WFS1 mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findings

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   +1 more source