Results 171 to 180 of about 5,313 (208)

RNA-sequencing of WFS1-deficient pancreatic islets [PDF]

Physiological Reports, 2016
Wolfram syndrome, an autosomal recessive disorder characterized by juvenile-onset diabetes mellitus and optic atrophy, is caused by mutations in the WFS1 gene. WFS1 encodes an endoplasmic reticulum resident transmembrane protein.
Sulev Koks, Marilin Ivask
exaly   +5 more sources

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Non-syndromic WFS1 mutations are not a rare cause of diabetes in Pakistan.

Diabetes Research and Clinical Practice
Short abstract (50 words): We examined 68 Pakistani patients with young onset diabetes and found a surprisingly high rate (4/68) of non-syndromic WFS1 diabetes, a recently described recessive condition.
I. Rafique, A. Mir, N. Popovic, Alix Vanpoperinghe, Muhammad Arif Nadeem Saqib, Prof. Dr. Asher. Fawwad, A. Basit, Muhammad Naeem, Constantin Polychronakos, Angeliki Makri   +9 more
semanticscholar   +3 more sources

Optic Atrophy Predominant WFS1 Disorder-A Case-Control Study.

Journal of Neuro-Ophthalmology
BACKGROUND Wolfram syndrome type 1 (WS1), or "DIDMOAD" (diabetes insipidus, diabetes mellitus, optic atrophy (OA), and deafness, OMIM #222300), is a rare neurodegenerative disorder resulting from homozygous, compound heterozygous autosomal recessive (AR),
Nicholas R. Levergood, Melissa W. Ko, K. Payne, D. D. Mackay   +3 more
semanticscholar   +3 more sources

Multiple Retinal Anomalies in Wfs1-Deficient Mice [PDF]

Diagnostics, 2020
Background: Wolfram syndrome (WFS, OMIM: #222300) is an ultrarare autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic nerve atrophy and deafness. It has been reported that the average retinal thickness in WFS patients decreases with the progression of the disease.
Sulev Koks, Agnieszka Zmysłowska, Marilin Ivask   +2 more
exaly   +4 more sources

Wolfram syndrome and WFS1 gene

Clinical Genetics, 2010
Wolfram syndrome (WS) (MIM 222300) is a rare multisystem neurodegenerative disorder of autosomal recessive inheritance, also known as DIDMOAD (diabetes insipidus, insulin-deficient diabetes mellitus, optic atrophy and deafness). A Wolfram gene (WFS1) has been mapped to chromosome 4p16.1 which encodes an endoplasmic reticulum (ER) membrane-embedded ...
RIGOLI, Luciana Concetta, LOMBARDO, Fortunato, DI BELLA, Chiara   +2 more
openaire   +2 more sources

WFS1 mutations in hearing-impaired children

International Journal of Audiology, 2014
Mutations in the WFS1 gene can cause Wolfram syndrome or nonsyndromic hearing impairment (HI). The objective of this study was to ascertain the presence of mutations in WFS1 among children with HI from unknown causes.We screened 105 Finnish children with HI for mutations in exon 8 in WFS1.Children were born in a defined area in Northern Finland and ...
Majamaa Kari, Kytövuori Laura Meri Tuulikki, Sorri Martti, Luotonen Mirja, Häkli Sanna Marjatta   +4 more
openaire   +2 more sources

WFS1/wolframin mutations, Wolfram syndrome, and associated diseases

Human Mutation, 2001
Wolfram syndrome (WS) is the inherited association of juvenile-onset insulin-dependant diabetes mellitus and progressive bilateral optic atrophy. A nuclear gene, WFS1/wolframin, was identified that segregated with disease status and demonstrated an autosomal recessive mode of inheritance. Mutation analysis of the WFS1 gene in WS patients has identified
Timothy Barrett, Farhat Khanim, T G Barrett   +2 more
exaly   +3 more sources

Wfs1 and Related Molecules as Key Candidate Genes in the Hippocampus of Depression [PDF]

Frontiers in Genetics, 2021
BackgroundDepression is a prevalent mental disorder, which is difficult to diagnose and treat due to its unclear pathogenic mechanisms. The discovery of novel and effective therapeutic targets for depression is urgently needed. The hippocampus is a crucial region involved in depression and has been a therapeutic target for many antidepressants.
Shengmei Zhu, Lu Liu
exaly   +4 more sources