Results 191 to 200 of about 5,313 (208)

The phenotypic spectrum of syndromic optic atrophy associated with variants in WFS1: with reclassification of p.Val606Gly as a likely benign variant

Ophthalmic Genetics
Introduction Wolfram syndrome due to bi-allelic variants in WFS1 and mono-allelic Wolfram-like syndrome have variable ocular and syndromic associations. In this report, eight patients are described.
Sarah Hull, L. Sheck, Geoffrey D Braatvedt, Fran Mouat, Craig A. Jefferies, Patrick Yap, Rinki Murphy, A. Vincent   +7 more
semanticscholar   +1 more source

Presence of a Major WFS1 Mutation in Spanish Wolfram Syndrome Pedigrees

Molecular Genetics and Metabolism, 2001
Wolfram syndrome (WS) is an autosomal recessive neurodegenerative disease mainly characterized by familial diabetes mellitus and optic atrophy. WS patients frequently present with other clinical features such as diabetes insipidus, renal abnormalities, psychiatric disorders, and a variety of neurologic symptoms: deafness, ataxia, peripheral neuropathy.
M, Gómez-Zaera, T M, Strom, B, Rodríguez, X, Estivill, T, Meitinger, V, Nunes   +5 more
openaire   +2 more sources

Genetic Heterogeneity in Four Probands Reveals HGSNAT, KDM6B, LMNA and WFS1 Related Neurodevelopmental Disorders

Biomedicines
Background: Neurodevelopmental disorders of genetic etiology are a highly diverse set of congenital recurrent complications triggered by irregularities in the basic tenets of brain development.
Behjat Ul Mudassir, Mujaddid Mudassir, Jamal B. Williams, Z. Agha   +3 more
semanticscholar   +1 more source

Defects of WFS1-mediated peptide hormones secretion contribute to the manifestations of Wolfram syndrome.

Life Science
AIMS The study aims to investigate whether WFS1 is involved in the regulation of the exportation and secretion of other peptide hormones, as well as to elucidate the precise molecular mechanisms underlying WS caused by pathogenic mutations in the WFS1 ...
Suli Li, Linlin Wang, Yunfei Li, Li-Qiao Hu, Yanying Guo, Zong-Hong Li   +5 more
semanticscholar   +1 more source

Wolfram Syndrome WFS1

2018
Jennifer Sarhis-Avigdor, Eda Cengiz
openaire   +1 more source

Replication of the association between variants in WFS1 and risk of type 2 diabetes in European populations

Diabetologia, 2007
Tommy Olsson, Christian Dina, Nicholas Wareham   +2 more
exaly  

A novel heterozygous mutation of the WFS1 gene leading to constitutive endoplasmic reticulum stress is the cause of Wolfram syndrome

Pediatric Diabetes, 2017
Shuntaro Morikawa
exaly  

Association of rs734312 and rs10010131 polymorphisms in WFS1 gene with type 2 diabetes mellitus: a meta-analysis

Endocrine Journal, 2013
Dongfeng Zhang, Yili Wu
exaly  

Wfs1-deficient mice display impaired behavioural adaptation in stressful environment

Behavioural Brain Research, 2009
Eero Vasar, Sulev Koks, Hendrik Luuk
exaly  

Wolfram syndrome in French population: Characterization of novel mutations and polymorphisms in theWFS1 gene

Human Mutation, 2005
Sophie Monnot
exaly