Results 181 to 190 of about 5,313 (208)

Comorbidity of GJB2 and WFS1 mutations in one family

Gene, 2012
It is rarely reported that two distinct genetic mutations affecting hearing have been found in one family. We report on a family exhibiting comorbid mutation of GJB2 and WFS1. A four-generation Japanese family with autosomal dominant sensorineural hearing loss was studied. In 7 of the 24 family members, audiometric evaluations and genetic analysis were
Shujiro B, Minami, Sawako, Masuda, Satoko, Usui, Hideki, Mutai, Tatsuo, Matsunaga   +4 more
openaire   +2 more sources

Evidence for impaired function of dopaminergic system in Wfs1-deficient mice

Behavioural Brain Research, 2013
Immunohistological studies suggest abundant expression of Wfs1 protein in neurons and nerve fibers that lie in the vicinity of dopaminergic (DA-ergic) fibers and neurons. Therefore, we sought to characterize the function of DA-ergic system in Wfs1-deficient mice.
Eero Vasar, Sulev Koks, Aet O'Leary
exaly   +3 more sources

Muscarinic Agonist Ameliorates Insulin Secretion in Wfs1-Deficient Mice

Canadian Journal of Diabetes, 2019
Similar to patients with Wolfram syndrome and to heterozygous Wolframin1 (Wfs1) mutation carriers, Wfs1-deficient mice exhibit impaired glucose tolerance and lower plasma insulin levels. Muscarinic receptor 3 agonists have previously been shown to potentiate glucose-stimulated insulin secretion.
Eero Vasar, Maarja Toots, Riin Reimets   +2 more
exaly   +3 more sources

“Metabolic effects of menthol on WFS1‐deficient mice”

The FASEB Journal, 2016
Previous experiments of RNA sequencing showed that Trpm8 gene was upregulated in the hippocampus of WFS1-deficient mice compared to wild-type littermates. TRPM8 is activated by cold (8–28°C) and chemicals, e.g. menthol, which induce cold sensation. TRP ion channels are used as primary transducers of thermal stimuli for thermosensation.
Ehrlich, M., Ivask, M., Raasmaja, A., Kõks, S.   +3 more
openaire   +1 more source

Identification of novel WFS1 mutations in Italian children with Wolfram syndrome [PDF]

Human Mutation, 2001
Six unrelated Italian children with Wolfram syndrome (WS) were analyzed for mutations in the WFS1. Four novel mutations (1387delCTCT, S443I, 1519del16, and IVS6+16g->a) were identified. In addition, we found two new, probably neutral changes (A684V and R708C).
Filippo M Santorelli, Alessandra Tessa, Claudio Bruno   +2 more
exaly   +5 more sources

Proteomic hub proteins CDKN2B, TRAPPC2L, WFS1, and ARPP19 drive biochemical recurrence and metastatic progression in prostate cancer: Protein macromolecule action.

International Journal of Biological Macromolecules
The biological characteristics and metastasis mechanism of prostate cancer are complex, involving the important role of many proteins in cell transcriptional regulation.
Junkai Qin, Da-Peng Zhou, Ming-Xue Su, Siyuan Huang, Q. Nong, X. Xian, Zhifu Zhang   +6 more
semanticscholar   +1 more source

High frequency of recessive WFS1 mutations among Indian children with islet antibody-negative type 1 diabetes.

Journal of Clinical Endocrinology and Metabolism, 2023
BACKGROUND While the frequency of islet antibody-negative (idiopathic) type 1 diabetes mellitus (T1DM) is reported to be increased in Indian children, its aetiology is not studied.
Jayakrishnan C. Menon, Pratibha Singh, Archana Archana, Preeti Singh, Medha Mittal, U. Kanga, K. Mandal, Anju Seth, V. Bhatia, P. Dabadghao, S. Sudhanshu, A. Garg, Ruchira Vishwakarma, A. Sarangi, Shivendra Verma, S. K. Singh, E. Bhatia   +16 more
semanticscholar   +1 more source

A novel nonsense mutation in the WFS1 gene causes the Wolfram syndrome

Journal of Pediatric Endocrinology and Metabolism, 2016
AbstractWolfram syndrome is a rare autosomal recessive neurodegenerative disorder, which is mostly caused by mutations in ...
Shahab, Noorian, Shahram, Savad, Davood Shah, Mohammadi   +2 more
openaire   +2 more sources

WFS1 protein modulates the free Ca2+concentration in the endoplasmic reticulum [PDF]

FEBS Letters, 2006
The WFS1 gene, encoding an endoplasmic reticulum (ER) membrane glycoprotein, is mutated in Wolfram syndrome characterized by diabetes mellitus and optic atrophy.
Daisuke Takei, Ishihara, Hisamitsu, Suguru Yamaguchi, Takahiro Yamada, Yamaguchi, Suguru, Yamada, Takahiro, Takei, Daisuke, Tamura, Akira, Katagiri, Hideki, Oka, Yoshitomo, Akira Tamura, Yoshio Maruyama, Hideki Katagiri, Hisamitsu Ishihara, Maruyama, Yoshio, Yoshitomo Oka   +15 more
exaly   +2 more sources

Novel WFS1 Variants in Two Moroccan Families with Wolfram Syndrome

Genetic Testing and Molecular Biomarkers
Background: Wolfram syndrome (WFS) is an autosomal recessive disorder that often leads to diabetes, optic atrophy, and sensorineural hearing loss. The aim of this study was to determine the clinical characteristics and the genetic cause of the first two ...
A. Bouhouche, Sara Sefiani, H. Charoute, Tibar Houyam, N. Bouslam, Fatima-Zahra El Yousfi, Wadi Bnouhana, A. Benomar, Fatima-Zahra Ouadghiri, W. Regragui   +9 more
semanticscholar   +1 more source