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GENETIC DISEASES AND GENE KNOCKOUTS REVEAL DIVERSE CONNEXIN FUNCTIONS
Abstract
▪ Abstract Intercellular channels present in gap junctions allow cells to share small molecules and thus coordinate a wide range of behaviors. Remarkably, although junctions provide similar functions in all multicellular organisms, vertebrates and invertebrates use unrelated gene families to encode these channels. The recent identification of the invertebrate innexin family opens up powerful genetic systems to studies of intercellular communication. At the same time, new information on the physiological roles of vertebrate connexins has emerged from genetic studies. Mutations in connexin genes underlie a variety of human diseases, including deafness, demyelinating neuropathies, and lens cataracts. In addition, gene targeting of connexins in mice has provided new insights into connexin function and the significance of connexin diversity.
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Cited by
Structural and Functional Diversity of Connexin Genes in the Mouse and Human Genome
Willecke, K., Eiberger, J., Degen, J., Eckardt, D., Romualdi, A., Güldenagel, M., Deutsch, U., & Söhl, G. (2002) · Biological Chemistry · doi:10.1515/bc.2002.076 · Cited by 1,158
Deans, M. R., Gibson, J. R., Sellitto, C., Connors, B. W., & Paul, D. L. (2001) · Neuron · doi:10.1016/s0896-6273(01)00373-7 · Cited by 580
Self-citationConnexin43 phosphorylation: structural changes and biological effects
Solan, J. L., & Lampe, P. D. (2009) · Biochemical Journal · doi:10.1042/bj20082319 · Cited by 555
Electrical synapses between Gaba-Releasing interneurons
Galarreta, M., & Hestrin, S. (2001) · Nature Reviews Neuroscience · doi:10.1038/35077566 · Cited by 434
Update on connexins and gap junctions in neurons and glia in the mammalian nervous system
Nagy, J. I., Dudek, F. E., & Rash, J. E. (2004) · Brain Research Reviews · doi:10.1016/j.brainresrev.2004.05.005 · Cited by 375
Metadata
- Authors
- White, T. W., & Paul, D. L.
- Venue
- Annual Review of Physiology
- Publisher
- Annual Reviews
- Published
- 1999-03
- Volume
- 61
- Issue
- 1
- Pages
- 283-310
- ISSN
- 0066-4278 (ISSN-L)
- 1545-1585
- OpenAlex
- W2117782312
- Cited by
- 392
- References
- 0
- FWCI
- 2.23
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: GENETIC DISEASES AND GENE KNOCKOUTS REVEAL DIVERSE CONNEXIN FUNCTIONS. https://app.cochat.ai/papers/10.1146/annurev.physiol.61.1.283
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- White, T. W., & Paul, D. L. (1999). GENETIC DISEASES AND GENE KNOCKOUTS REVEAL DIVERSE CONNEXIN FUNCTIONS. Annual Review of Physiology. https://doi.org/10.1146/annurev.physiol.61.1.283
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
