The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
KCNQ1 Gain-of-Function Mutation in Familial Atrial Fibrillation
Abstract
Atrial fibrillation (AF) is a common cardiac arrhythmia whose molecular etiology is poorly understood. We studied a family with hereditary persistent AF and identified the causative mutation (S140G) in the KCNQ1 ( KvLQT1 ) gene on chromosome 11p15.5. The KCNQ1 gene encodes the pore-forming α subunit of the cardiac I Ks channel (KCNQ1/KCNE1), the KCNQ1/KCNE2 and the KCNQ1/KCNE3 potassium channels. Functional analysis of the S140G mutant revealed a gain-of-function effect on the KCNQ1/KCNE1 and the KCNQ1/KCNE2 currents, which contrasts with the dominant negative or loss-of-function effects of the KCNQ1 mutations previously identified in patients with long QT syndrome. Thus, the S140G mutation is likely to initiate and maintain AF by reducing action potential duration and effective refractory period in atrial myocytes.
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Cites
Epidemiology and natural history of atrial fibrillation: clinical implications
Chugh, S. S., Blackshear, J. L., Shen, W.-K., Hammill, S. C., & Gersh, B. J. (2001) · Journal of the American College of Cardiology · doi:10.1016/s0735-1097(00)01107-4 · Cited by 768
Cited by
Fuster, V., Rydén, L. E., Cannom, D. S., Crijns, H. J., Curtis, A. B., Ellenbogen, K. A., Halperin, J. L., Le Heuzey, J.-Y., Kay, G. N., Lowe, J. E., et al. (2006) · Circulation · doi:10.1161/circulationaha.106.177292 · Cited by 2,805
Calkins, H., Kuck, K. H., Cappato, R., Brugada, J., Camm, A. J., Chen, S.-A., Crijns, H. J. G., Damiano, R. J., Davies, D. W., DiMarco, J., et al. (2012) · Europace · doi:10.1093/europace/eus027 · Cited by 2,722
Lifetime Risk for Development of Atrial Fibrillation: The Framingham Heart Study
Lloyd-Jones, D. M., Wang, T. J., Leip, E. P., Larson, M. G., Levy, D., Vasan, R. S., D’Agostino, R. B., Massaro, J. M., Beiser, A., Wolf, P. A., et al. (2004) · Circulation · doi:10.1161/01.cir.0000140263.20897.42 · Cited by 2,041
Calkins, H., Kuck, K. H., Cappato, R., Brugada, J., Camm, A. J., Chen, S.-A., Crijns, H. J. G., Damiano, R. J., Davies, D. W., DiMarco, J., et al. (2012) · Heart Rhythm · doi:10.1016/j.hrthm.2011.12.016 · Cited by 1,456
Pathophysiological mechanisms of atrial fibrillation: a translational appraisal
Schotten, U., Verheule, S., Kirchhof, P., & Goette, A. (2011) · Physiological Reviews · doi:10.1152/physrev.00031.2009 · Cited by 1,273
Metadata
- Authors
- Chen, Y.-H., Xu, S.-J., Bendahhou, S., Wang, X.-L., Wang, Y., Xu, W.-Y., Jin, H.-W., Sun, H., Su, X.-Y., Zhuang, Q.-N., Yang, Y.-Q., Li, Y.-B., Liu, Y., Xu, H.-J., Li, X.-F., Ma, N., Mou, C.-P., Chen, Z., Barhanin, J., & Huang, W.
- Venue
- Science
- Published
- 2003-01-10
- Volume
- 299
- Issue
- 5604
- Pages
- 251-254
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2152124063
- Cited by
- 1,000
- References
- 1
- FWCI
- 31.85
- Type
- journal article
- Language
- en
- Open access
- closed
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