ArticleMolecular and cellular neurosciences2011
Dominant Cx26 mutants associated with hearing loss have dominant-negative effects on wild type Cx26.
Article in Molecular and cellular neurosciences, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
26 citing papers in PubMed, 32 citations in OpenAlex.
- HSD17B7 is required for the function of sensory hair cells by regulating cholesterol synthesis.eLife · 2026Article
- Exploring the binding sites of VRT534 at Cx26 as a putative chemical chaperone for targeted treatment of hereditary hearing disorders.Frontiers in medicine · 2025Article
- 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
- Global Distribution of Founder Variants Associated with Non-Syndromic Hearing Impairment.Genes · 2023Review
- Connexin Mutations and Hereditary Diseases.International journal of molecular sciences · 2022Review
- Cutaneous and hepatic vascular lesions due to a recurrent somaticHGG advances · 2021Article
- Functional Evaluation of a Rare Variant c.516G>C (p.Trp172Cys) in theBiomolecules · 2021Article
- Inner Ear Connexin Channels: Roles in Development and Maintenance of Cochlear Function.Cold Spring Harbor perspectives in medicine · 2019Review
- Calcium interactions with Cx26 hemmichannel: Spatial association between MD simulations biding sites and variant pathogenicity.Computational biology and chemistry · 2018Article
- Human diseases associated with connexin mutations.Biochimica et biophysica acta. Biomembranes · 2018Review
- DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.Frontiers in molecular neuroscience · 2017Review
- Connexinopathies: a structural and functional glimpse.BMC cell biology · 2016Review
- Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report.BMC medical genetics · 2016Article
- Connexin channels in congenital skin disorders.Seminars in cell & developmental biology · 2016Review
- Gap junction mediated miRNA intercellular transfer and gene regulation: A novel mechanism for intercellular genetic communication.Scientific reports · 2016Article
- Article
- Connexin26 (GJB2) deficiency reduces active cochlear amplification leading to late-onset hearing loss.Neuroscience · 2015Article
- Cellular and Deafness Mechanisms Underlying Connexin Mutation-Induced Hearing Loss - A Common Hereditary Deafness.Frontiers in cellular neuroscience · 2015Review
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
Mutations in GJB2, the gene encoding the human gap junction protein connexin26 (Cx26), cause either non-syndromic hearing loss or syndromes affecting both hearing and skin. We have investigated whether dominant Cx26 mutants can interact physically with wild type Cx26. HeLa cells stably expressing wild type Cx26 were transiently transfected to co-express nine individual dominant Cx26 mutants; six associated with non-syndromic hearing loss (W44C, W44S, R143Q, D179N, R184Q, and C202F) and three associated with hearing loss and palmoplantar keratoderma (G59A, R75Q, and R75W). All mutants co-localized and co-immunoprecipitated with wild type Cx26, indicating that they interact physically, likely by forming admixed heteromeric/heterotypic channels. Furthermore, all nine mutants inhibited the transfer of calcein in cells stably expressing Cx26, demonstrating that they each have dominant effects on wild type Cx26. Taken together, these results show that dominant-negative effects of these Cx26 mutants likely contribute to the pathogenesis of hearing loss.
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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.