Results 11 to 20 of about 2,517,817 (182)

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   +5 more sources

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

Hum Mol Genet, 2021
Abstract 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, optic atrophy, deafness, diabetes insipidus and neurological signs.
Panfili E, Mondanelli G, Orabona C, Belladonna ML, Gargaro M, Fallarino F, Orecchini E, Prontera P, Proietti E, Frontino G, Tirelli E, Iacono A, Vacca C, Puccetti P, Grohmann U, Esposito S, Pallotta MT.   +16 more
europepmc   +10 more sources

Wolfram syndrome in the Japanese population; molecular analysis of WFS1 gene and characterization of clinical features. [PDF]

PLoS ONE, 2014
BACKGROUND: Wolfram syndrome (WFS) is a recessive neurologic and endocrinologic degenerative disorder, and is also known as DIDMOAD (Diabetes Insipidus, early-onset Diabetes Mellitus, progressive Optic Atrophy and Deafness) syndrome.
Kimie Matsunaga, Katsuya Tanabe, Hiroshi Inoue, Shigeru Okuya, Yasuharu Ohta, Masaru Akiyama, Akihiko Taguchi, Yukari Kora, Naoko Okayama, Yuichiro Yamada, Yasuhiko Wada, Shin Amemiya, Shigetaka Sugihara, Yuzo Nakao, Yoshitomo Oka, Yukio Tanizawa   +15 more
doaj   +5 more sources

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

European Journal of Endocrinology, 2009
ObjectiveWolfram 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. However, some studies have provided evidence for genetic heterogeneity and the genotype–phenotype relationships ...
Maria Regina R, Gasparin, Felipe, Crispim, Sílvia L, Paula, Maria Beatriz S, Freire, Ivaldir S, Dalbosco, Thais Della, Manna, João Eduardo N, Salles, Fábio, Gasparin, Aléxis, Guedes, João M, Marcantonio, Márcio, Gambini, Camila P, Salim, Regina S, Moisés   +12 more
openaire   +4 more sources

Beyond Wolfram Syndrome 1: The WFS1 Gene’s Role in Alzheimer’s Disease and Sleep Disorders

Biomolecules
The WFS1 gene was first identified in Wolfram Syndrome 1 (WS1), a rare autosomal recessive genetic disorder characterized by severe and progressive neurodegenerative changes. WFS1’s role in various cellular mechanisms, particularly in calcium homeostasis
Valerio Caruso, Luciana Rigoli
doaj   +5 more sources

Polymorphisms in wolframin (WFS1) gene are possibly related to increased risk for mood disorders [PDF]

The International Journal of Neuropsychopharmacology, 2005
Wolfram syndrome gene (WFS1) has been suggested to have a role in the susceptibility for mood disorders. A 26-fold increased risk for psychiatric disorders in WFS1 mutation carriers has been suggested. In this study we tested the hypothesis that the WFS1 gene is related to the risk for mood disorders.
Koido, K., Kõks, S., Nikopensius, T., Maron, E., Altmäe, S., Heinaste, E., Vabrit, K., Tammekivi, V., Hallast, P., Kurg, A., Shlik, J., Vasar, V., Metspalu, A., Vasar, E.   +13 more
core   +7 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   +3 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

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

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   +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