The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
KCNQ4, a Novel Potassium Channel Expressed in Sensory Outer Hair Cells, Is Mutated in Dominant Deafness
Open accessAbstract
Potassium channels regulate electrical signaling and the ionic composition of biological fluids. Mutations in the three known genes of the KCNQ branch of the K+ channel gene family underlie inherited cardiac arrhythmias (in some cases associated with deafness) and neonatal epilepsy. We have now cloned KCNQ4, a novel member of this branch. It maps to the DFNA2 locus for a form of nonsyndromic dominant deafness. In the cochlea, it is expressed in sensory outer hair cells. A mutation in this gene in a DFNA2 pedigree changes a residue in the KCNQ4 pore region. It abolishes the potassium currents of wild-type KCNQ4 on which it exerts a strong dominant-negative effect. Whereas mutations in KCNQ1 cause deafness by affecting endolymph secretion, the mechanism leading to KCNQ4-related hearing loss is intrinsic to outer hair cells.
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Cites
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns
Singh, N. A., Charlier, C., Stauffer, D., DuPont, B. R., Leach, R. J., Melis, R., Ronen, G. M., Bjerre, I., Quattlebaum, T., Murphy, J. V., et al. (1998) · Nature Genetics · doi:10.1038/ng0198-25 · Cited by 1,199
A Potassium Channel Mutation in Neonatal Human Epilepsy
Biervert, C., Schroeder, B. C., Kubisch, C., Berkovic, S. F., Propping, P., Jentsch, T. J., & Steinlein, O. K. (1998) · Science · doi:10.1126/science.279.5349.403 · Cited by 1,073
Self-citation
Cited by
(Patho)physiological Significance of the Serum- and Glucocorticoid-Inducible Kinase Isoforms
Lang, F., Böhmer, C., Palmada, M., Seebohm, G., Strutz-Seebohm, N., & Vallon, V. (2006) · Physiological Reviews · doi:10.1152/physrev.00050.2005 · Cited by 689
Zhang, H., Craciun, L. C., Mirshahi, T., Rohács, T., Lopes, C. M. B., Jin, T., & Logothetis, D. E. (2003) · Neuron · doi:10.1016/s0896-6273(03)00125-9 · Cited by 523
Cochlear Outer Hair Cell Motility
Ashmore, J. (2008) · Physiological Reviews · doi:10.1152/physrev.00044.2006 · Cited by 503
Deafness and renal tubular acidosis in mice lacking the K-Cl co-transporter Kcc4
Boettger, T., Hübner, C. A., Maier, H., Rust, M. B., Beck, F. X., & Jentsch, T. J. (2002) · Nature · doi:10.1038/416874a · Cited by 414
Self-citationCooper, E. C., Harrington, E., Jan, Y. N., & Jan, L. Y. (2001) · The Journal of Neuroscience · doi:10.1523/jneurosci.21-24-09529.2001 · Cited by 305
Metadata
- Authors
- Kubisch, C., Schroeder, B. C., Friedrich, T., Lütjohann, B., El-Amraoui, A., Marlin, S., Petit, C., & Jentsch, T. J.
- Venue
- Cell
- Publisher
- Elsevier BV
- Published
- 1999-02
- Volume
- 96
- Issue
- 3
- Pages
- 437-446
- ISSN
- 0092-8674 (ISSN-L)
- OpenAlex
- W2017614800
- Cited by
- 867
- References
- 2
- FWCI
- 29.16
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- Kubisch, C., Schroeder, B. C., Friedrich, T., Lütjohann, B., El-Amraoui, A., Marlin, S., Petit, C., & Jentsch, T. J. (1999). KCNQ4, a Novel Potassium Channel Expressed in Sensory Outer Hair Cells, Is Mutated in Dominant Deafness. Cell. https://doi.org/10.1016/s0092-8674(00)80556-5
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