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 +11 more
europepmc +2 more sources
Expression of the diabetes risk gene wolframin (WFS1) in the human retina [PDF]
Experimental Eye Research, 2009 Wolfram syndrome 1 (WFS1, OMIM 222300), a rare genetic disorder characterized by optic nerve atrophy, deafness, diabetes insipidus and diabetes mellitus, is caused by mutations of WFS1, encoding WFS1/wolframin. Non-syndromic WFS1 variants are associated with the risk of diabetes mellitus due to altered function of wolframin in pancreatic islet cells ...
Schmidt-Kastner, Rainald +7 more
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Knockdown of wfs1, a fly homolog of Wolfram syndrome 1, in the nervous system increases susceptibility to age- and stress-induced neuronal dysfunction and degeneration in Drosophila. [PDF]
PLoS Genetics, 2018 Wolfram syndrome (WS), caused by loss-of-function mutations in the Wolfram syndrome 1 gene (WFS1), is characterized by juvenile-onset diabetes mellitus, bilateral optic atrophy, and a wide spectrum of neurological and psychiatric manifestations.
Yasufumi Sakakibara +4 more
doaj +1 more source
Identification of a Novel WFS1 Mutation Using the Whole Exome Sequencing in an Iranian Pedigree with Autosomal Dominant Hearing Loss [PDF]
Iranian Journal of Otorhinolaryngology, 2021 Introduction: Sensorineural hearing loss is the most frequent type of hearing impairment in the human population. Genetic factors account for over 60% of hearing loss in patients. This is a genetically heterogeneous sensorineural disorder. Case Report:
Javad Mohammadi Asl +4 more
doaj +1 more source
A p.Val412Serfs pathogenic variant associated with Wolfram-like syndrome and leukodystrophy
The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, 2023 Background Wolfram syndrome is due to a mutation of the WFS1 gene that codes for the transmembrane protein wolframin. This protein is located in the endoplasmic reticulum and is expressed at higher concentrations in the beta cells of pancreatic islets ...
Ayca Kocaaga +2 more
doaj +1 more source
Wolfram syndrome 1 regulates sleep in dopamine receptor neurons by modulating calcium homeostasis.
PLoS Genetics, 2023 Sleep disruptions are quite common in psychological disorders, but the underlying mechanism remains obscure. Wolfram syndrome 1 (WS1) is an autosomal recessive disease mainly characterized by diabetes insipidus/mellitus, neurodegeneration and ...
Huanfeng Hao, Li Song, Luoying Zhang
doaj +1 more source
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 +18 more
doaj +1 more source
Male mice with deleted Wolframin (Wfs1) gene have reduced fertility [PDF]
Reproductive Biology and Endocrinology, 2009 Wolfram Syndrome (WS) is an autosomal recessive disorder characterised by non-autoimmune diabetes mellitus, optic atrophy, cranial diabetes insipidus and sensorineural deafness. Some reports have described hypogonadism in male WS patients. The aim of our study was to find out whether Wfs1 deficient (Wfs1KO) male mice have reduced fertility and, if so ...
Noormets, K. +7 more
openaire +3 more sources
GLP-1 receptor agonists as promising disease-modifying agents in WFS1 spectrum disorder
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 +2 more
doaj +1 more source
BMC Medical Genetics, 2020 Background Mutations of the WFS1 gene are responsible for most cases of Wolfram syndrome (WS), a rare, recessively inherited neurodegenerative disorder characterized by juvenile-onset non-autoimmune diabetes mellitus and optic atrophy.
Maryam Sobhani +6 more
doaj +1 more source