Results 91 to 100 of about 2,517,817 (182)

The Intersection of m6A Methylation and Immune Response in PCOS: A Bioinformatics Perspective

Immunity, Inflammation and Disease, Volume 14, Issue 2, February 2026.
N6‐methyladenosine RNA methylation regulators are intricately linked with the development of polycystic ovary syndrome (PCOS) and may influence immune cell infiltration in affected individuals. This study enhances our understanding of the molecular interactions in PCOS and suggests potential biomarkers for diagnosis and targets for therapeutic ...
Wenting Xu, Lingli Shi, Aifang Lu, Lijuan Cui, Haiqing Qian, Jiahui Wang, Mengyu Tang, Lili Zhu, Lihong Wang   +8 more
wiley   +1 more source

Effect of Chronic Valproic Acid Treatment on Hepatic Gene Expression Profile in Wfs1 Knockout Mouse

, 2020
Valproic acid (VPA) is a widely used anticonvulsant and mood-stabilizing drug whose use is often associated with drug-induced weight gain. Treatment with VPA has been shown to upregulate Wfs1 expression in vitro.
Julia Oflijan, Marite Punapart, Ursel Soomets, Anne Must, Catherine Fernandes, Sulev Kõks, Mall Eltermaa, Silva Sütt, Anton Terasmaa, Leonard C Schalkwyk, Eero Vasar   +10 more
core  

Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report

BMC Medical Genetics, 2017
Background Low-frequency nonsyndromic hearing loss (LF-NSHL) is a rare, inherited disorder. Here, we report a family with LF-NSHL in whom a missense mutation was found in the Wolfram syndrome 1 (WFS1) gene.
Hye Ji Choi, Joon Suk Lee, Seyoung Yu, Do Hyeon Cha, Heon Yung Gee, Jae Young Choi, Jong Dae Lee, Jinsei Jung   +7 more
doaj   +1 more source

Association studies of genetic variation in the WFS1 gene and type 2 diabetes in UK populations

, 2002
Mutations in the WFS1 gene cause beta-cell death, resulting in a monogenic form of diabetes known as Wolfram syndrome. The role of variation in WFS1 in type 2 diabetes susceptibility is not known. We sequenced the WFS1 gene in 29 type 2 diabetic probands
Hattersley, AT, Owen, KR, McCarthy, MI, Barrett, Timothy; id_orcid, Minton, Jayne, Latif, Farida, Walker, M, Frayling, TM   +7 more
core   +1 more source

Ärevuse molekulaarsete mehhanismide uurimine emastel Wfs1-puudulikkusega hiirtel [PDF]

, 2018
Väitekirja elektrooniline versioon ei sisalda publikatsiooneWolframi sündroom on pärilik neurodegeneratiivne haigus, mille teket seostatakse mutatsioonidega WFS1 geenis.
Altpere, Alina
core  

A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report

Journal of Clinical Research in Pediatric Endocrinology, 2016
Wolfram-like syndrome (WFSL) is a rare autosomal dominant disease characterised by congenital progressive hearing loss, diabetes mellitus, and optic atrophy. The patient was a boy with the juvenile form of diabetes mellitus and findings which clinically matched the symptoms of Wolfram syndrome. At the age of 3 1/4 years, diabetes mellitus was diagnosed
Prochazkova, Dagmar, Hruba, Zuzana, Konecna, Petra, Skotakova, Jarmila, Fajkusova, Lenka   +4 more
openaire   +2 more sources

WFS1 deficiency impairs mitochondrial dynamics.

, 2016
(A) Primary cortical neurons were transfected with the photoconvertible mitochondrially targeted construct mito-Kikume-Green and scrambled shRNA or Wfs1 shRNA.
Mailis Liiv (3151065), Michal Cagalinec (3151077), Allen Kaasik (504365), Zuzana Hodurova (3151083), Vinay Choubey (3151080), Annika Vaarmann (321196), Akbar Zeb (3151071), Malle Kuum (3151074), Vladimir Veksler (201015), Miriam Ann Hickey (3151068), Merle Mandel (578705), Dzhamilja Safiulina (504364), Eero Vasar (91530)   +12 more
core   +1 more source

Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy

Scientific Reports
This study aims to describe the ophthalmic characteristics of autosomal dominant (AD) WFS1-associated optic atrophy (AD WFS1-OA), and to explore phenotypic differences with dominant optic atrophy (DOA) caused by mutations in the OPA1-gene.
Cansu de Muijnck, Lonneke Haer-Wigman, Judith A. M. van Everdingen, Tanya Lushchyk, Pam A. T. Heutinck, Marieke F. van Dooren, Anneke J. A. Kievit, Virginie J. M. Verhoeven, Marleen E. H. Simon, Rosemarie A. Wasmann, Irene C. Notting, Elfride De Baere, Sophie Walraedt, Julie De Zaeytijd, Filip Van den Broeck, Bart P. Leroy, Camiel J. F. Boon, Maria M. van Genderen   +17 more
doaj   +1 more source

Next generation sequencing identifies a pathogenic mutation of WFS1 gene in a Moroccan family with Wolfram syndrome: a case report. [PDF]

J Med Case Rep, 2023
Sahli M, Zrhidri A, Boualaoui I, Cherkaoui Jaouad I, El Kadiri Y, Nouini Y, Sefiani A.   +6 more
europepmc   +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