Analysis of GJB2 Gene Mutations in 1330 Deafness Cases of Major Ethnic Groups in Northwest China [PDF]
Inquiry: The Journal of Health Care Organization, Provision, and Financing, 2022 Background : The GJB2 gene is the most common deafness gene, and epidemic characteristics have obvious racial specificity. Our study aimed to investigate the prevalence and ethnic specificity of the GJB2 gene in deafness in major ethnic groups in ...
Panpan Bian Master +8 more
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GJB2 gene therapy and conditional deletion reveal developmental stage-dependent effects on inner ear structure and function [PDF]
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 +9 more
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Analysis of Genetic Variations in Connexin 26 (GJB2) Gene among Nonsyndromic Hearing Impairment: Familial Study [PDF]
Global Medical Genetics, 2022 Objective The goal of this research was to investigate the gap junction beta 2 (GJB2) gene mutations associated with nonsyndromic hearing loss individuals in North Karnataka, India.
Smita Hegde +5 more
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GJB2, a novel transcription target of HSF4, confers tumorigenic and metastatic phenotypes and sustains mitochondrial homeostasis in lung adenocarcinoma via the PI3K/AKT pathway [PDF]
Cell Adhesion & MigrationThe ion channel gene GJB2 emerges as a therapeutic target for LUAD with significant prognostic value. Herein, the potential mechanisms of GJB2 were investigated. GJB2 expression was analyzed by bioinformatics, RT-qPCR and western blotting.
Qing Hu +6 more
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A Novel 1259 bp Intragenic Deletion in the GJB2 Gene in a Mexican Family with Congenital Profound Hearing Loss [PDF]
Audiology ResearchHearing loss is a genetically heterogeneous sensory defect for which biallelic pathogenic variants in the GJB2 gene are a frequent cause. Here, we report a novel intragenic large deletion in GJB2 in a Mayan family with several members affected by ...
David Oaxaca-Castillo +13 more
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Exploring Embryonic and Postnatal Gene Therapy Approaches for GJB2-Related Deafness: A Scoping Review [PDF]
Audiology ResearchPurpose: Hearing loss (HL) is a prevalent condition significantly impairing quality of life, with genetic mutations accounting for a substantial proportion of congenital cases, notably those involving the GJB2 gene encoding connexin 26.
Valeria Caragli, Alessandro Martini
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Clinical application value of preconception and prenatal carrier screening in Yinchuan [PDF]
Frontiers in GeneticsObjectiveTo explore the clinical application value of Expanded Carrier Screening (ECS) in preconception and prenatal populations in Yinchuan.MethodsA total of 1,319 participants underwent ECS, including 1,063 females receiving preconception or prenatal ...
Hua Han +5 more
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ChildrenGJB2 mutations are the most common cause of autosomal-recessive non-syndromic sensorineural hearing loss (SNHL). The available evidence shows large phenotypic variability across different genotypes and allelic variants.
Leonardo Franz +11 more
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GJB2 c.109G > A mutation activating IFI27-mediated mitochondrial apoptosis pathway leading to hereditary non-syndromic hearing loss [PDF]
Scientific ReportsNon-syndromic hereditary deafness is a congenital condition that severely impairs the lives of affected children. GJB2 mutations are a common cause of this condition, but their underlying mechanism remains unclear.
Yao Chen +7 more
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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
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