Results 21 to 30 of about 5,313 (208)

WFS1 Gene Mutation (c.2389G > A) Induces Immune Disorders by Promoting DC Maturation through Inhibition of TMEM176A. [PDF]

Inflammation
Mutations in the WFS1 gene, encoding wolframin (WFS1), are known to cause endoplasmic reticulum (ER) stress and lead to Wolfram Syndrome (WS). However, the role of WFS1 in immune inflammation remains unexplored. In this study, we identified that the WFS1
Lin W, Qiu Y, Tan C, Liu Z, Yang Y, He Y, Zhao J, Cheng J, Wang Z, Li M, Wang L, Wang M, Zhang M.   +12 more
europepmc   +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

Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy

Scientific Reports
This study aims to describe the ophthalmic characteristics of autosomal dominant (AD) WFS1-associated optic atrophy (AD WFS1-OA), and to explore phenotypic differences with dominant optic atrophy (DOA) caused by mutations in the OPA1-gene.
Cansu de Muijnck, Lonneke Haer-Wigman, Judith A. M. van Everdingen, Tanya Lushchyk, Pam A. T. Heutinck, Marieke F. van Dooren, Anneke J. A. Kievit, Virginie J. M. Verhoeven, Marleen E. H. Simon, Rosemarie A. Wasmann, Irene C. Notting, Elfride De Baere, Sophie Walraedt, Julie De Zaeytijd, Filip Van den Broeck, Bart P. Leroy, Camiel J. F. Boon, Maria M. van Genderen   +17 more
doaj   +2 more sources

Genotype-based severity scoring system in Wolfram Syndrome: correlation with onset of cardinal symptoms and <i>WFS1</i> gene variant types. [PDF]

Front Genet
Wolfram syndrome is a rare genetic disorder characterized by antibody-negative early-onset atypical diabetes mellitus, optic nerve atrophy, sensorineural hearing loss, diabetes insipidus (arginine vasopressin deficiency), and progressive ...
Oiknine L, Tang AF, Lee EM, Palaniappan N, Verma M, Vand K, Somalraju S, Chandra Janga S, Urano F.   +8 more
europepmc   +2 more sources

Natural history of 15 patients with autosomal dominant WFS1 pathogenic variants associated with sensorineural hearing loss and optic atrophy. [PDF]

Orphanet J Rare Dis
Autosomal dominant pathogenic variants in WFS1 cause a spectrum of disorders with phenotypic manifestations including low-frequency sensorineural hearing loss, optic nerve atrophy accompanied by low- to mid-frequency sensorineural hearing loss, non ...
Roberts JP, Tang AF, Hernandez D, Carman B, Oiknine L, Brown C, Hurst S, Tang Y, Urano F.   +8 more
europepmc   +2 more sources

Mutation analysis of pathogenic non-synonymous single nucleotide polymorphisms (nsSNPs) in WFS1 gene through computational approaches

Scientific Reports, 2023
A single base changes causing a change to the amino acid sequence of the encoded protein, which is defined as non-synonymous single nucleotide polymorphisms (nsSNPs).
Jing Zhao, Siqi Zhang, Yuan Jiang, Yan Liu, Qingwen Zhu   +4 more
doaj   +2 more sources

Contribution of WFS1 to Pancreatic Beta Cell Survival and Adaptive Alterations in WFS1 Deficiency: A Dissertation

, 2012
Diabetes mellitus comprises a cohort of genetic and metabolic diseases which are characterized by the hallmark symptom of hyperglycemia. Diabetic subtypes are based on their pathogenetic origins: the most prevalent subtypes are the autoimmune-mediated ...
O'Sullivan-Murphy, Bryan M.
core   +3 more sources

Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disorders

Frontiers in Genetics, 2023
Objective: Wolfram syndrome (WFS) is an autosomal recessive disorder associated with juvenile-onset diabetes mellitus, optic atrophy, diabetes insipidus, and sensorineural hearing loss.
Evan M. Lee, Megha Verma, N. Palaniappan, Emiko M. Pope, S. Lee, L. Blacher, P. Neerumalla, Williams An, T. Campbell, Cris M. Brown, S. Hurst, Bess A. Marshall, T. Hershey, Virginia Nunes, Miguel López de Heredia, F. Urano   +15 more
semanticscholar   +9 more sources

The WFS1‐ZnT3‐Zn2+ Axis Regulates the Vicious Cycle of Obesity and Depression

Advanced Science
Obesity, a growing global health concern, is closely linked to depression. However, the neural mechanism of association between obesity and depression remains poorly understood. In this study, neural‐specific WFS1 deficiency exacerbates the vicious cycle
Mengting Gong, Yulin Fang, Kaijiang Yang, Fei Yuan, Rui Hu, Yajuan Su, Yiling Yang, Wenjun Xu, Qing Ma, Jiaxue Cha, Ru Zhang, Zhen‐Ning Zhang, Weida Li   +12 more
doaj   +2 more sources

WFS1-puudulikkusega roti piklikaju neurodegeneratsiooni iseloomustus [PDF]

, 2017
Wolframi sündroomi (WS) põhjustab WFS1 geeni bialleelne mutatsioon. WS-i iseloomustavad suhkurdiabeet, endokriinne väärtalitlus, optiline atroofia ning ajutüve progressiivne neurodegeneratsioon.
Seppa, Kadri
core   +2 more sources