Results 21 to 30 of about 8,250 (205)

Research progress in delineating the pathological mechanisms of GJB2-related hearing loss [PDF]

Frontiers in Cellular Neuroscience, 2023
Hearing loss is the most common congenital sensory impairment. Mutations or deficiencies of the GJB2 gene are the most common genetic cause of congenital non-syndromic deafness.
Yujun Wang, Yuan Jin, Qiong Zhang, Ying Xiong, Xiang Gu, Shan Zeng, Wei Chen   +6 more
doaj   +2 more sources

Ichthyosis follicularis syndromes in patients with mutations in GJB2

Clinical and Experimental Dermatology, 2022
AbstractIchthyosis follicularis (IF) manifests as generalized spiny follicular projections found in syndromic diseases secondary to SREBF1 and MBTPS2 mutations. We sought the genetic cause of IF in two distinct families from a cohort of 180 patients with ichthyosis. In Family 1, the proband (Patient 1) presented with IF, bilateral sensorineural hearing
Leila Youssefian, Mahtab Naji, Jason S. Park, Fateme Rajabi, Fahimeh Abdollahimajd, Hamidreza Mahmoudi, Kambiz Kamyab-Hesari, Fariba Ghalamkarpour, Masoud Zabihi, Mehrdad Teimoorian, Laya Youssefian, Sirous Zeinali, Hassan Vahidnezhad, Jouni Uitto   +13 more
openaire   +3 more sources

Performance Evaluation of the TheraTyper-GJB2 Assay for Detection of GJB2 Gene Mutations [PDF]

The Journal of Molecular Diagnostics, 2014
Mutations in the GJB2 gene are the most common cause of congenital hearing loss in many populations. This study describes the development of a matrix-assisted laser desorption/ionization time-of-flight mass spectrometry-based minisequencing assay, TheraTyper-GJB2, for the detection of c.35delG, c.167delT, and c.235delC mutations in the GJB2 gene.
Ji-Yong, Chun, Soo-Kyung, Shin, Kyung Tae, Min, Woojae, Cho, Jaeil, Kim, Soo-Ok, Kim, Sun Pyo, Hong   +6 more
openaire   +2 more sources

Characterization of spectrum, de novo rate and genotype-phenotype correlation of dominant GJB2 mutations in Chinese hans. [PDF]

PLoS ONE, 2014
Dominant mutations in GJB2 may lead to various degrees of sensorineural hearing impairment and/or hyperproliferative epidermal disorders. So far studies of dominant GJB2 mutations were mostly limited to case reports of individual patients and families ...
Xiuhong Pang, Yongchuan Chai, Lianhua Sun, Dongye Chen, Ying Chen, Zhihua Zhang, Hao Wu, Tao Yang   +7 more
doaj   +1 more source

Ion channel gene GJB2 influences the intercellular communication by Up-regulating the SPP1 signaling pathway identified by the single-cell RNA sequencing in lung adenocarcinoma

Frontiers in Oncology, 2023
ObjectiveFirstly, observe the prognostic significance and the biological functional effects of gap junction protein beta 2 (GJB2 or Cx26) in lung adenocarcinoma (LUAD).
Zuo Liu, Zengtuan Xiao, Xiaofei Wang, Lianmin Zhang, Zhenfa Zhang   +4 more
doaj   +1 more source

GJB2 and GJB6 gene transcripts in the human cochlea: A study using RNAscope, confocal, and super-resolution structured illumination microscopy

Frontiers in Molecular Neuroscience, 2022
BackgroundGap junction (GJ) proteins, connexin26 and 30, are highly prevalent in the human cochlea (HC), where they are involved in transcellular signaling, metabolic supply, and fluid homeostasis.
Wei Liu, Helge Rask-Andersen
doaj   +1 more source

Age Estimate of GJB2-p.(Arg143Trp) Founder Variant in Hearing Impairment in Ghana, Suggests Multiple Independent Origins across Populations

Biology, 2022
Gap junction protein beta 2 (GJB2) (connexin 26) variants are commonly implicated in non-syndromic hearing impairment (NSHI). In Ghana, the GJB2 variant p.(Arg143Trp) is the largest contributor to NSHI and has a reported prevalence of 25.9% in affected ...
Elvis Twumasi Aboagye, Samuel Mawuli Adadey, Kevin Esoh, Mario Jonas, Carmen de Kock, Lucas Amenga-Etego, Gordon A. Awandare, Ambroise Wonkam   +7 more
doaj   +1 more source

GJB2 GENE

The Professional Medical Journal, 2015
This article reviews the most prevalent sensory illness of mammals especiallyhumans – Genetic Deafness or hearing loss (HL). For genetic hearing loss more than 100candidate genes have been discovered. The most common candidate gene of these all that isfound all around the world is GJB2 gene.
Sana Ullah, Khaista Rahman, Muhammad Tariq, Tauseef Ahmad   +3 more
openaire   +2 more sources

Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations

Orphanet Journal of Rare Diseases, 2020
Background Recessive mutations in GJB2 is the most common cause of genetic hearing loss worldwide. The aim of this study is to determine the spectrum and frequency of GJB2 variants in Chinese Han deaf patients and to investigate the underlying causative ...
Xiaoyu Yu, Yun Lin, Jun Xu, Tuanjie Che, Lin Li, Tao Yang, Hao Wu   +6 more
doaj   +1 more source

GJB2 gene therapy and conditional deletion reveal developmental stage-dependent effects on inner ear structure and function

Molecular Therapy: Methods & Clinical Development, 2021
Pathogenic variants in GJB2, the gene encoding connexin 26, are the most common cause of autosomal-recessive hereditary deafness. Despite this high prevalence, pathogenic mechanisms leading to GJB2-related deafness are not well understood, and cures are ...
Jingying Guo, Xiaobo Ma, Jennifer M. Skidmore, Jelka Cimerman, Diane M. Prieskorn, Lisa A. Beyer, Donald L. Swiderski, David F. Dolan, Donna M. Martin, Yehoash Raphael   +9 more
doaj   +1 more source