The DOI matches its Crossref record; 16 of the 16 references it cites were found in a registry or an index.
Spectrum of HERG K+-channel dysfunction in an inherited cardiac arrhythmia.
Open accessAbstract
Long QT syndrome (LQT) is an autosomal dominant disorder that can cause sudden death from cardiac arrhythmias. We recently discovered that mutations in HERG, a K+-channel gene, cause chromosome 7-linked LQT. Heterologous expression of HERG in Xenopus oocytes revealed that HERG current was similar to a well-characterized cardiac delayed rectifier K+ current, IKr, and led to the hypothesis that mutations in HERG reduced IKr, causing prolonged myocellular action potentials. To define the mechanism of LQT, we injected oocytes with mutant HERG complementary RNAs, either singly or in combination with wild-type complementary RNA. Some mutations caused loss of function, whereas others caused dominant negative suppression of HERG function. These mutations are predicted to cause a spectrum of diminished IKr and delayed ventricular repolarization, consistent with the prolonged QT interval observed in individuals with LQT.
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Cites
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Self-citationCardiac Electrophysiology: From Cell to Bedside
(1991) · Annals of Internal Medicine · doi:10.7326/0003-4819-114-12-1069_5 · Cited by 2,385
A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome
Curran, M. E., Splawski, I., Timothy, K. W., Vincen, G. M., Green, E. D., & Keating, M. T. (1995) · Cell · doi:10.1016/0092-8674(95)90358-5 · Cited by 2,259
Self-citationSCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome
Wang, Q., Shen, J., Splawski, I., Atkinson, D., Li, Z., Robinson, J. L., Moss, A. J., Towbin, J. A., & Keating, M. T. (1995) · Cell · doi:10.1016/0092-8674(95)90359-3 · Cited by 1,686
Self-citationThe "megaprimer" method of site-directed mutagenesis.
Sarkar, G., & Sommer, S. S. (1990) · PubMed · Cited by 1,165
Molecular mechanism for an inherited cardiac arrhythmia
Bennett, P. B., Yazawa, K., Makita, N., & George, A. L. (1995) · Nature · doi:10.1038/376683a0 · Cited by 957
Determination of the subunit stoichiometry of a voltage-activated potassium channel
MacKinnon, R. (1991) · Nature · doi:10.1038/350232a0 · Cited by 927
Mutations in the K+ channel signature sequence
Heginbotham, L., Lu, Z., Abramson, T., & MacKinnon, R. (1994) · Biophysical Journal · doi:10.1016/s0006-3495(94)80887-2 · Cited by 830
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Putative receptor for the cytoplasmic inactivation gate in the Shaker K+ channel
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Cited by
Coassembly of KVLQT1 and minK (IsK) proteins to form cardiac IKS potassium channel
Sanguinetti, M. C., Curran, M. E., Zou, A., Shen, J., Specter, P. S., Atkinson, D. L., & Keating, M. T. (1996) · Nature · doi:10.1038/384080a0 · Cited by 1,764
Self-citationRole of the Cytosolic Chaperones Hsp70 and Hsp90 in Maturation of the Cardiac Potassium Channel hERG
Ficker, E., Dennis, A. T., Wang, L., & Brown, A. M. (2003) · Circulation Research · doi:10.1161/01.res.0000079028.31393.15 · Cited by 323
Compton, S. J., Lux, R. L., Ramsey, M. R., Strelich, K. R., Sanguinetti, M. C., Green, L. S., Keating, M. T., & Mason, J. W. (1996) · Circulation · doi:10.1161/01.cir.94.5.1018 · Cited by 313
Self-citationShah, D., Prajapati, C., Penttinen, K., Cherian, R. M., Koivumäki, J. T., Alexanova, A., Hyttinen, J., & Aalto-Setälä, K. (2020) · Cells · doi:10.3390/cells9051153 · Cited by 31
Metadata
- Authors
- Sanguinetti, M. C., Curran, M. E., Spector, P. S., & Keating, M. T.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 1996-03-05
- Volume
- 93
- Issue
- 5
- Pages
- 2208-2212
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W2088143209
- Cited by
- 473
- References
- 16
- FWCI
- 29.49
- Type
- journal article
- Language
- en
- Open access
- green
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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