Results 21 to 30 of about 2,696,264 (156)

The genetic and clinical characteristics of WFS1 related diabetes in Chinese early onset type 2 diabetes

Scientific Reports, 2023
Diabetes is one of the most common phenotypes of Wolfram syndrome owing to the presence of the variants of the WFS1 gene and is often misdiagnosed as other types of diabetes.
Yating Li, Siqian Gong, Meng Li, Xiaoling Cai, Wei Liu, Simin Zhang, Yumin Ma, Yingying Luo, Lingli Zhou, Xiuying Zhang, Xiuting Huang, Xueying Gao, Mengdie Hu, Yufeng Li, Qian Ren, Yanai Wang, Xianghai Zhou, Xueyao Han, Linong Ji   +18 more
doaj   +2 more sources

GLP-1 receptor agonists as promising disease-modifying agents in WFS1 spectrum disorder [PDF]

Frontiers in Clinical Diabetes and Healthcare, 2023
WFS1 spectrum disorder (WFS1-SD) is a rare monogenic neurodegenerative disorder whose cardinal symptoms are childhood-onset diabetes mellitus, optic atrophy, deafness, diabetes insipidus, and neurological signs ranging from mild to severe.
Eleonora Panfili, Giulio Frontino, Maria Teresa Pallotta   +2 more
doaj   +2 more sources

WFS1-related isolated diabetes induced by a WFS1 missense mutation: focus on the isolated diabetes phenotype [PDF]

Orphanet Journal of Rare Diseases
Background Wolfram syndrome is a rare disease caused by the mutation of WFS1 gene, characterized as s spectrum of disorders. We aim to investigate the clinical features and pathogenic mechanisms of a WFS1 missense mutation inducing atypical phenotype ...
Mei Huang, Qianying Wei, Yao Qin, Lu Qin, Ying Shao, Suyu Wang, Xinyi Qu, Tao Yang, Mei Zhang   +8 more
doaj   +2 more sources

Identification of a pathogenic founder variant in the WFS1 gene that causes Wolfram syndrome in the Druze population [PDF]

Frontiers in Pediatrics
ContextWolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder caused by pathogenic variants in the WFS1 gene. It is characterized by central diabetes insipidus, juvenile-onset diabetes mellitus (DM), optic atrophy (OA), and deafness ...
Inbal Halabi, Inbal Halabi, Yardena Tenenbaum-Rakover, Yardena Tenenbaum-Rakover, Lena Sagi-Dain, Lena Sagi-Dain, Lena Sagi-Dain, Ilana Koren, Ilana Koren, Ilana Koren   +9 more
doaj   +2 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   +2 more sources

Synaptic alterations are preceding the axonal loss in optic atrophy of Wolfram syndrome mouse model [PDF]

Frontiers in Neuroscience
BackgroundWolfram syndrome is a rare autosomal recessive disorder characterized by antibody-negative early-onset diabetes mellitus, optic atrophy, sensorineural hearing loss, arginine-vasopressin deficiency, and progressive neurodegeneration of the ...
Venu Gurram, William An, Shrinivas Bimal, Fumihiko Urano, Fumihiko Urano   +4 more
doaj   +2 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   +2 more sources

Patients with a Wide Range of Disorders Related to WFS1 Gene Variants: Novel Mutations and Genotype-Phenotype Correlations. [PDF]

Genes (Basel)
Background: WFS1-spectrum disorders are caused by a mutation in the WFS1 gene. The term includes a wide range of rare disorders, from the most severe Wolfram syndrome with autosomal recessive inheritance to milder clinical manifestations with a ...
Grzybowska-Adamowicz J, Gadzalska K, Jakiel P, Juścińska E, Gorządek M, Skoczylas S, Płoszaj T, Jarosz-Chobot P, Kowalska I, Myśliwiec M, Szadkowska A, Zmysłowska A.   +11 more
europepmc   +2 more sources

A novel heterozygous WFS1 variant of uncertain significance in a patient with early-onset diabetes: a case report [PDF]

Frontiers in Endocrinology
ObjectiveTo describe the clinical presentation of a patient with early-onset diabetes and to report a novel heterozygous WFS1 variant of uncertain significance (VUS) identified in this case.
Wen Kan, Yunyang Wang, Yu Xue, Xiaoying Zhang, Lili Xu   +4 more
doaj   +2 more sources

WFS1 Deficiency Impairs PIAS4-Associated SUMOylation and Increases Ubiquitin-Mediated Spermatogenesis-Related Protein Degradation Leading to Testicular Male Infertility. [PDF]

Adv Sci (Weinh)
The findings establish a critical role for WFS1 in human male fertility. Mechanistically, WFS1 interacts with PIAS4 to promote the SUMOylation of key spermatogenesis‐associated proteins, which in turn competitively inhibits their K48‐linked ubiquitin‐mediated degradation during spermatogenesis.
Tian Y, Zhao G, Wang X, Tang X, Shen G, Ruan T, Jiang C, Zhao S, Zhang J, Cui X, Zhuo L, Ma J, Yang Y, Lin T, Shen Y.   +14 more
europepmc   +2 more sources