Results 21 to 30 of about 2,517,817 (182)

A nonsynonymous mutation in the WFS1 gene in a Finnish family with age-related hearing impairment

Hearing Research, 2017
Wolfram syndrome (WS) is caused by recessive mutations in the Wolfram syndrome 1 (WFS1) gene. Sensorineural hearing impairment (HI) is a frequent feature in WS and, furthermore, certain mutations in WFS1 cause nonsyndromic dominantly inherited low-frequency sensorineural HI.
Laura Kytövuori, Samuli Hannula, Elina Mäki-Torkko, Martti Sorri, Kari Majamaa   +4 more
openaire   +3 more sources

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

Wfs1 gene deletion causes growth retardation in mice and interferes with the growth hormone pathway

Physiological Genomics, 2009
The aim of present study was to describe changes in gene expression in the temporal lobe of mice induced by deletion of the Wfs1 gene. Temporal lobes samples were analyzed using Affymetrix Mouse Genome 420 2 GeneChips and expression profiles were functionally annotated with GSEA and Ingenuity Pathway Analysis.
Koks, S., Soomets, U., Paya-Cano, J. L., Fernandes, C., Luuk, H., Plaas, M., Terasmaa, A., Tillmann, V., Noormets, K., Vasar, E., Schalkwyk, L. C.   +10 more
openaire   +4 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

Multicapillary gel electrophoresis based analysis of genetic variants in the WFS1 gene

ELECTROPHORESIS, 2016
The WFS1 gene is one of the thoroughly investigated targets in diabetes research, variants of the gene were suggested to be the genetic components of the common forms (type 1 and type 2) of diabetes. Our project focused on the analysis of polymorphisms (rs4689388, rs148797429, rs4273545) localized in the WFS1 promoter region.
Elek Zsuzsanna, Dénes Réka, Prokop Susanne Clara, Somogyi Anikó, Handy Yowanto, Jane Luo, Manfred Souquet, Guttman András, Rónai Zsolt   +8 more
openaire   +4 more sources

Synaptic alterations are preceding the axonal loss in optic atrophy of Wolfram syndrome mouse model [PDF]

Frontiers in Neuroscience
BackgroundWolfram syndrome is a rare autosomal recessive disorder characterized by antibody-negative early-onset diabetes mellitus, optic atrophy, sensorineural hearing loss, arginine-vasopressin deficiency, and progressive neurodegeneration of the ...
Venu Gurram, William An, Shrinivas Bimal, Fumihiko Urano, Fumihiko Urano   +4 more
doaj   +2 more sources

Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome. [PDF]

BMC Endocr Disord, 2021
Abstract Background Wolfram syndrome (WFS) is a rare autosomal recessive genetic disease whose main cause is mutations in the WFS1 and CISD2 genes. Its characteristic clinical manifestations are diabetes insipidus, diabetes mellitus, optic atrophy and deafness.
Ren Z, Yi J, Zhong M, Wang Y, Liu Q, Wang X, Liu D, Ren W.   +7 more
europepmc   +5 more sources

A novel mutation in the WFS1 gene identified in a Taiwanese family with low-frequency hearing impairment [PDF]

BMC Medical Genetics, 2007
Background Wolfram syndrome gene 1 (WFS1) accounts for most of the familial nonsyndromic low-frequency sensorineural hearing loss (LFSNHL) which is characterized by sensorineural hearing losses equal to and below 2000 Hz.
Chung Shing-Fang, Wang Ying-Piao, Tsai Hsun-Tien, Lin Hung-Ching, Ho Guan-Min, Shu Min-Tsan   +5 more
doaj   +2 more sources

A novel heterozygous WFS1 variant of uncertain significance in a patient with early-onset diabetes: a case report [PDF]

Frontiers in Endocrinology
ObjectiveTo describe the clinical presentation of a patient with early-onset diabetes and to report a novel heterozygous WFS1 variant of uncertain significance (VUS) identified in this case.
Wen Kan, Yunyang Wang, Yu Xue, Xiaoying Zhang, Lili Xu   +4 more
doaj   +2 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.
Jing Yang, Chaoqin Chen, Xiaoyuan Jin, Lu Liu, Jiajia Lin, Xianhui Kang, Shengmei Zhu   +6 more
openaire   +3 more sources