ArticleHuman genetics2004
Altered gating properties of functional Cx26 mutants associated with recessive non-syndromic hearing loss.
Article in Human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 1 of them a synthesis that pooled it.
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Who cites it
41 citing papers in PubMed, 1 synthesis or guideline pooled it, 81 citations in OpenAlex.
- Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.Genome medicine · 2019Pooled it
- Recent Progress in Mechanism-Based Therapies forInternational journal of molecular sciences · 2026Review
- Article
- Structural basis for pathogenic variants of GJB2 and hearing levels of patients with hearing loss.BMC research notes · 2024Article
- Connexins in epidermal health and diseases: insights into their mutations, implications, and therapeutic solutions.Frontiers in physiology · 2024Review
- Functional Consequences of Pathogenic Variants of theBiomolecules · 2023Review
- Cytomembrane Trafficking Pathways of Connexin 26, 30, and 43.International journal of molecular sciences · 2023Review
- Molecular Mechanisms and Clinical Phenotypes ofBiology · 2023Review
- The role of connexins in breast cancer: from misregulated cell communication to aberrant intracellular signaling.Tissue barriers · 2022Review
- A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma.Human mutation · 2019Article
- Calcium interactions with Cx26 hemmichannel: Spatial association between MD simulations biding sites and variant pathogenicity.Computational biology and chemistry · 2018Article
- Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.Human mutation · 2018Article
- Research of genetic bases of hereditary non-syndromic hearing loss.Turk pediatri arsivi · 2017Article
- Characterization of a variant of gap junction protein α8 identified in a family with hereditary cataract.PloS one · 2017Article
- Connexinopathies: a structural and functional glimpse.BMC cell biology · 2016Review
- A Mayan founder mutation is a common cause of deafness in Guatemala.Clinical genetics · 2016Article
- Secondary structural analysis of the carboxyl-terminal domain from different connexin isoforms.Biopolymers · 2016Article
- Residual Hearing in DFNB1 Deafness and Its Clinical Implication in a Korean Population.PloS one · 2015Article
- Spectrum of GJB2 mutations in Cypriot nonsyndromic hearing loss subjects.Journal of genetics · 2014Article
- The D50N mutation and syndromic deafness: altered Cx26 hemichannel properties caused by effects on the pore and intersubunit interactions.The Journal of general physiology · 2013Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Connexins (Cx) form gap junctions that allow the exchange of small metabolites and ions. In the inner ear, Cx26 is the major gap junction protein and mutations in the Cx26-encoding gene, GJB2, are the most frequent cause of autosomal recessive non-syndromic hearing loss (DFNB1). We have functionally analyzed five Cx26 mutations associated with DFNB1, comprising the following single amino-acid substitutions: T8M, R143W, V153I, N206S and L214P. Coupling of cells expressing wild-type or mutant Cx26 was measured in the paired Xenopus oocyte assay. We found that the R143W, V153I and L214P mutations were unable to form functional channels. In contrast, the T8M and N206S mutants did electrically couple cells, though their voltage gating properties were different from wild-type Cx26 channels. The electrical coupling of oocytes expressing the T8M and N206S mutants suggest that these channels may retain high permeability to potassium ions. Therefore, deafness associated with Cx26 mutations may not only depend on reduced potassium re-circulation in the inner ear. Instead, abnormalities in the exchange of other metabolites through the cochlear gap junction network may also produce deafness.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.