Results 11 to 20 of about 5,521 (170)

Pan-cancer analysis of the prognostic and immunological role of GJB2: a potential target for survival and immunotherapy

Frontiers in Oncology, 2023
BackgroundGJB2 plays an essential role in the growth and progression of several cancers. However, asystematic pan-cancer analysis of GJB2 is lacking. Therefore, in this study, we performed a comprehensive pan-cancer analysis to determine the potential ...
Yuting Jia, Bin Guo, Wenbin Zhang, Feng Wang, Yong Zhang, Quanmao Zhang, Erfeng Li   +6 more
doaj   +1 more source

A novel p.Leu213X mutation in GJB2 gene in a Portuguese family [PDF]

International Journal of Pediatric Otorhinolaryngology, 2013
Hearing loss is the most common sensory disability and is present in about 1.9 per 1000 infants at birth. The DFNB1 locus (13q11-q12) includes the genes GJB2, coding for connexin 26, and GJB6, encoding connexin 30. More than 100 mutations have been identified associated with autosomal dominant and recessive hearing loss in the GJB2 gene.The aim of the ...
Ana Cláudia, Gonçalves, Joana, Chora, Tiago D, Matos, Ricardo, Santos, Assunção, O'Neill, Pedro, Escada, Graça, Fialho, Helena, Caria   +7 more
openaire   +4 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

Comprehensive Analysis and Genetic Insights Into GJB2 c.35delG Mutation-Associated Non-Syndromic Hearing Loss in Morocco. [PDF]

OTO Open
Abstract Objective To assess the prevalence of the GJB2 c.35delG mutation among Moroccan patients with nonsyndromic sensorineural hearing loss (NSHL) and compare it with frequencies reported in other North African populations. Study Design Retrospective cohort study. Setting Multidisciplinary tertiary care hearing loss genetics clinic.
Salman EM, Qabli ME, Soufian L, Mansouri M, Bouzid FZ, Oulghoul O, Chehbouni M, Lakhdar Y, Rochdi Y, Raji A, Aboussair N.   +10 more
europepmc   +2 more sources

The prognostic value and biological significance of gap junction beta protein 2 (GJB2 or Cx26) in cervical cancer

Frontiers in Oncology, 2022
ObjectiveTo evaluate the prognostic value and explore the biological significance of gap junction protein beta 2 (GJB2 or Cx26) in cervical cancer (CC).MethodsWe first compared GJB2 expression between CC and normal tissues using public databases and ...
Silu Meng, Silu Meng, Yuhuan Liu, Yuhuan Liu, Xiaoyan Wang, Xue Wu, Xue Wu, Wan Xie, Wan Xie, Xiaoyan Kang, Xiaoyan Kang, Xiaoyu Liu, Xiaoyu Liu, Lili Guo, Lili Guo, Changyu Wang, Changyu Wang   +16 more
doaj   +1 more source

Novel AAV-based GJB2 gene therapy restores hearing function. [PDF]

Mol Ther
Landegger LD.
europepmc   +3 more sources

Mutations of Cx26 gene (GJB2) for prelingual deafness in Taiwan [PDF]

European Journal of Human Genetics, 2002
Mutations in the Cx26 (GJB2) gene have been shown to be responsible for a major part of autosomal recessive non-syndromic inherited prelingual deafness. We have sequenced the coding region of GJB2 gene from 169 Taiwanese patients with prelingual deafness and 100 unrelated normal individuals.
Yi-Chun, Wang, Chiu-Yun, Kung, Mao-Chang, Su, Ching-Chyuan, Su, Hsiu-Mei, Hsu, Chin-Chu, Tsai, Chyi-Chyang, Lin, Shuan-Yow, Li   +7 more
openaire   +2 more sources

Novel cardiac manifestation of USH2A and GJB2 genes: A case report [PDF]

, 2021
Electrical storm can be caused by structural heart diseases and/or functional electrical abnormalities. We report a young boy without cardiac risk factors, having a positive family history of sudden cardiac death who presented with electrical storm. Stepwise diagnostic approach was not fruitful to determine previously known causes as the origin of the ...
Mohammad Nikoo, Mohammad Reza Hatamnejad, Zahra Emkanjoo, Alireza Arjangzadeh, Mehdi Motahari moadab, Mehdi Bazrafshan, Hamed Bazrafshan   +6 more
openaire   +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

Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic). [PDF]

PLoS ONE, 2016
Pathogenic variants in the GJB2 gene, encoding connexin 26, are known to be a major cause of hearing impairment (HI). More than 300 allelic variants have been identified in the GJB2 gene.
Nikolay A Barashkov, Vera G Pshennikova, Olga L Posukh, Fedor M Teryutin, Aisen V Solovyev, Leonid A Klarov, Georgii P Romanov, Nyurgun N Gotovtsev, Andrey A Kozhevnikov, Elena V Kirillina, Oksana G Sidorova, Lena M Vasilyevа, Elvira E Fedotova, Igor V Morozov, Alexander A Bondar, Natalya A Solovyevа, Sardana K Kononova, Adyum M Rafailov, Nikolay N Sazonov, Anatoliy N Alekseev, Mikhail I Tomsky, Lilya U Dzhemileva, Elza K Khusnutdinova, Sardana A Fedorova   +23 more
doaj   +1 more source