Results 31 to 40 of about 3,346,977 (142)

Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness

Scientific Reports, 2022
To analyse the pathogenic genes and mutations of a family with hereditary deafness. We recruited a three-generation family with NSHL. A detailed medical history inquiry and related examinations were performed. Next-generation sequencing (NGS) was used to
Jing Zhao, Siqi Zhang, Yuan Jiang, Yan Liu, Jiantao Wang, QingWen Zhu   +5 more
doaj   +1 more source

Case Report: Ophthalmologic Evaluation Over a Long Follow-Up Time in a Patient With Wolfram Syndrome Type 2: Slowly Progressive Optic Neuropathy as a Possible Clinical Finding

Frontiers in Pediatrics, 2021
Wolfram syndrome (WFS) is a rare autosomal recessive neurodegenerative disease whose diagnosis requires diabetes mellitus and optic atrophy (OA). WFS includes a wide spectrum of other possible complications such as diabetes insipidus, sensorineural ...
Valentina Di Iorio, Enza Mozzillo, Francesco Maria Rosanio, Francesca Di Candia, Rita Genesio, Francesco Testa, Claudio Iovino, Adriana Franzese, Francesca Simonelli   +8 more
doaj   +1 more source

Wolfram syndrome: new pathophysiological insights and therapeutic strategies

Therapeutic Advances in Rare Disease, 2021
Wolfram Syndrome (WS) is an ultra-rare, progressive neurodegenerative disease characterized by early-onset diabetes mellitus and irreversible loss of vision, secondary to optic nerve degeneration.
Ratnakar Mishra, Benson S. Chen, Prachi Richa, Patrick Yu-Wai-Man   +3 more
doaj   +1 more source

Identification of Three Novel and One Known Mutation in the WFS1 Gene in Four Unrelated Turkish Families: The Role of Homozygosity Mapping in the Early Diagnosis

JCRPE, 2021
Objective:Bi-allelic mutations in the wolframin gene (WFS1) cause Wolfram syndrome 1 (WS1 or DIDMOAD) characterized by non-autoimmune diabetes mellitus, optic atrophy, diabetes insipidus, sensorineural deafness, urinary tract abnormalities, and ...
Maha Sherif, Hüseyin Demirbilek, Atilla Çayır, Sophia Tahir, Büşra Çavdarlı, Meliha Demiral, Ayşe Nurcan Cebeci, Doğuş Vurallı, Sofia Asim Rahman, Edip Unal, Gönül Büyükyılmaz, Riza Taner Baran, Mehmet Nuri Özbek, Khalid Hussain   +13 more
doaj   +1 more source

A novel WFS1 mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findings

BMC Medical Genetics, 2008
Background Low frequency sensorineural hearing loss (LFSNHL) is an uncommon clinical finding. Mutations within three different identified genes (DIAPH1, MYO7A, and WFS1) are known to cause LFSNHL.
Verrall Aimee M, Kallman Jeremy C, Bramhall Naomi F, Street Valerie A   +3 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, Sevgi Yimenicioglu, Murat Bayav   +2 more
doaj   +1 more source

Prohormone convertase 2 activity is increased in the hippocampus of Wfs1 knockout mice

Frontiers in Molecular Neuroscience, 2015
BackgroundMutations in WFS1 gene cause Wolfram syndrome, which is a rare autosomal recessive disorder, characterized by diabetes insipidus, diabetes mellitus, optic nerve atrophy and deafness (DIDMOAD).
Karin eTein, Sergo eKasvandik, Sulev eKõks, Eero eVasar, Anton eTerasmaa   +4 more
doaj   +1 more source

Multiomic analysis on human cell model of wolfram syndrome reveals changes in mitochondrial morphology and function

Cell Communication and Signaling, 2021
Background Wolfram syndrome (WFS) is a rare autosomal recessive syndrome in which diabetes mellitus and neurodegenerative disorders occur as a result of Wolframin deficiency and increased ER stress.
Agnieszka Zmyslowska, Miljan Kuljanin, Beata Malachowska, Marcin Stanczak, Dominika Michalek, Aneta Wlodarczyk, Dagmara Grot, Joanna Taha, Bartłomiej Pawlik, Magdalena Lebiedzińska-Arciszewska, Hanna Nieznanska, Mariusz R. Wieckowski, Piotr Rieske, Joseph D. Mancias, Maciej Borowiec, Wojciech Mlynarski, Wojciech Fendler   +16 more
doaj   +1 more source

Developmental hypomyelination in Wolfram syndrome: new insights from neuroimaging and gene expression analyses

Orphanet Journal of Rare Diseases, 2019
Wolfram syndrome is a rare multisystem disorder caused by mutations in WFS1 or CISD2 genes leading to brain structural abnormalities and neurological symptoms. These abnormalities appear in early stages of the disease.
Amjad Samara, Rachel Rahn, Olga Neyman, Ki Yun Park, Ahmad Samara, Bess Marshall, Joseph Dougherty, Tamara Hershey   +7 more
doaj   +1 more source

CHAPTER 1.1. Disulfide Bonds in Protein Folding and Stability [PDF]

, 2018
Disulfide bonds are unique among post-translational modifications, as they add covalent crosslinks to the polypeptide chain. Accordingly, they can exert pronounced effects on protein folding and stability. This is of particular importance for secreted or
Sub Cellular Protein Chemistry, Hendershot, Linda M., Feige, Matthias J., Ineke Braakman, Matthias J. Feige, Braakman, Ineke, Cellular Protein Chemistry, Linda M. Hendershot   +7 more
core   +1 more source