Results 41 to 50 of about 5,313 (208)

Recent advances in pancreatic β-cell dysfunction in type 2 diabetes mellitus: Intracellular stress and dedifferentiation. [PDF]

J Diabetes Investig
Journal of Diabetes Investigation, Volume 17, Issue 8, Page 1254-1256, August 2026.
Kido N, Asahara SI.
europepmc   +2 more sources

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, Michiko Sekiya, Naoki Fujisaki, Xiuming Quan, Koichi M Iijima   +4 more
doaj   +1 more source

A novel mutation of WFS1 gene leading to increase ER stress and cell apoptosis is associated an autosomal dominant form of Wolfram syndrome type 1

BMC Endocrine Disorders, 2021
Background Wolfram syndrome (WS) is a rare autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy and deafness.
Yingying Gong, Li Xiong, Xiujun Li, Lei Su, Haipeng Xiao   +4 more
doaj   +1 more source

A novelWFS1variant associated with isolated congenital cataracts

Molecular Case Studies, 2023
Biallelic variants in theWFS1gene are associated with Wolfram syndrome. However, recent publications document that heterozygous variants can lead to a variety of phenotypes, such as Wolfram-like syndrome or isolated features of Wolfram syndrome. In this case report, we present a male patient with a history of congenital cataracts and subjective ...
Angela Krutish, James Elmore, Werner Ilse, Janine L. Johnston, Dustin Hittel, Marina Kerr, Aneal Khan, Cheryl Rockman-Greenberg, Aizeddin A. Mhanni   +8 more
openaire   +2 more sources

Paediatric Wolfram syndrome Type 1: should gonadal dysfunction be part of the diagnostic criteria?

Frontiers in Endocrinology, 2023
AimsWolfram Syndrome Spectrum Disorder (WFS1-SD), in its “classic” form, is a rare autosomal recessive disease with poor prognosis and wide phenotypic spectrum.
Giulio Frontino, Giulio Frontino, Raffaella Di Tonno, Raffaella Di Tonno, Marianna Rita Stancampiano, Marianna Rita Stancampiano, Francesca Arrigoni, Francesca Arrigoni, Andrea Rigamonti, Andrea Rigamonti, Elisa Morotti, Elisa Morotti, Daniele Canarutto, Daniele Canarutto, Riccardo Bonfanti, Riccardo Bonfanti, Riccardo Bonfanti, Gianni Russo, Graziano Barera, Lorenzo Piemonti, Lorenzo Piemonti   +20 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, Nader Saki, Masoud Dehdashtiyan, Mostafa Neissi, Farideh Ghanbari Mardasi   +4 more
doaj   +1 more source

Analysis of metabolic effects of menthol on WFS1-deficient mice [PDF]

Physiological Reports, 2016
In this study, we investigated the physiological regulation of energy metabolism in wild-type (WT) and WFS1-deficient (Wfs1KO) mice by measuring the effects of menthol treatment on the O2 consumption, CO2 production, rectal body temperature, and heat production.
Ehrlich, M., Ivask, M., Raasmaja, A., Kõks, S.   +3 more
openaire   +3 more sources

Genetic Landscape of Hearing Loss in Brazilian Patients Reveals Population-Specific Variants and Clinical Correlations. [PDF]

Clin Genet
The Burden: Hearing loss (HL) is the most prevalent sensory disorder globally, affecting 1.5 million individuals in Brazil. The Gap: While > 150 genes are linked to HL, the genetic architecture in underrepresented populations like Brazil is poorly defined. The Problem: This lack of data limits diagnostic yield and the application of precision medicine.
Diogo-Cavassana S, Alencar-Coutinho D, Abreu-Oberhuber R, Paramo-Neto ME, Oiticica J, Bento RF, Batissoco AC, Lezirovitz K.   +7 more
europepmc   +2 more sources

Transkriptoomilised ja metaboolsed muutused WFS1-puudulikkusega hiiremudelis [PDF]

, 2022
Väitekirja elektrooniline versioon ei sisalda publikatsiooneWolframi sündroom (WFS) on haruldane pärilik haigus, mida iseloomustavad lapseeas algav insuliinist sõltuv suhkurtõbi, nägemisnärvi kahjustus, magediabeet, kurtus ja mitmed neuroloogilised ...
Ivask, Marilin
core  

WFS1 mutations in Spanish patients with diabetes mellitus and deafness [PDF]

European Journal of Human Genetics, 2002
Wolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder characterised by early onset diabetes mellitus and progressive optic atrophy, as well as other clinical features such as deafness, diabetes insipida, renal tract abnormalities and diverse psychiatric illnesses. A gene responsible for WS was identified in 4p16.1 (WFS1).
Enric, Domènech, Montse, Gómez-Zaera, Virginia, Nunes   +2 more
openaire   +2 more sources