Results 21 to 30 of about 5,423 (216)

Topology of WFS1 Variants Linked With Islet Function and Higher Risk of Urological Symptoms in WFS1-Associated Disease

Pediatric Diabetes
Wolfram syndrome type 1 gene (WFS1), which encodes a transmembrane (TM) structural protein (wolframin), is essential for several biological processes. Mutations of WFS1, autosomal dominant or recessive inherited, are related to a broad clinical spectrum.
Juan Zhang, Tong Dai, Jun-Qi Wang, Ming-Yue Yin, Yuan-Yan Yang, Li Jiang, Bei Xia, Zhuo-Zhou Cui, Wen-Li Lu, Ronggui Hu, Chuan-Yin Li, Zhi-Ya Dong, Yuan Xiao   +12 more
semanticscholar   +3 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

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

The miR-668 Binding Site Variant rs1046322 on WFS1 Is Associated With Obesity in Southeast Asians

Frontiers in Endocrinology, 2023
The Wolfram syndrome 1 gene (WFS1) is the main causative locus for Wolfram syndrome, an inherited condition characterized by childhood-onset diabetes mellitus, optic atrophy, and deafness.
Fahd Al-mulla, Prashantha Hebbar, Mohamed Abu-Farha   +2 more
exaly   +3 more sources

Impairment of visual function and retinal ER stress activation in Wfs1-deficient mice. [PDF]

PLoS ONE, 2014
Wolfram syndrome is an early onset genetic disease (1/180,000) featuring diabetes mellitus and optic neuropathy, associated to mutations in the WFS1 gene.
Delphine Bonnet Wersinger, Nesrine Benkafadar, Jolanta Jagodzinska, Christian Hamel, Yukio Tanizawa, Guy Lenaers, Cécile Delettre   +6 more
doaj   +2 more sources

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

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 type 1 diabetes mellitus (T1DM) and the metabolic disease of type 2 diabetes mellitus (T2DM).
O'Sullivan-Murphy, Bryan M.
openaire   +3 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. Eelnevad uuringud on peamiselt keskendunud esimese sümptomina avalduva suhkurdiabeedi uurimisele ning sellest lähtuvalt on neurodegeneratsiooni uurimine jäänud
Seppa, Kadri
openaire   +2 more sources