The DOI matches its Crossref record; 36 of the 36 references it cites were found in a registry or an index.
Targeted disruption of the Kcnq1 gene produces a mouse model of Jervell and Lange– Nielsen Syndrome
Open accessAbstract
KCNQ1 encodes KCNQ1, which belongs to a family of voltage-dependent K + ion channel proteins. KCNQ1 associates with a regulatory subunit, KCNE1, to produce the cardiac repolarizing current, I Ks . Loss-of-function mutations in the human KCNQ1 gene have been linked to Jervell and Lange–Nielsen Syndrome (JLNS), a disorder characterized by profound bilateral deafness and a cardiac phenotype. To generate a mouse model for JLNS, we created a line of transgenic mice that have a targeted disruption in the Kcnq1 gene. Behavioral analysis revealed that the Kcnq1 −/− mice are deaf and exhibit a shaker/waltzer phenotype. Histological analysis of the inner ear structures of Kcnq1 −/− mice revealed gross morphological anomalies because of the drastic reduction in the volume of endolymph. ECGs recorded from Kcnq1 −/− mice demonstrated abnormal T- and P-wave morphologies and prolongation of the QT and JT intervals when measured in vivo , but not in isolated hearts. These changes are indicative of cardiac repolarization defects that appear to be induced by extracardiac signals. Together, these data suggest that Kcnq1 −/− mice are a potentially valuable animal model of JLNS.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Derivation of completely cell culture-derived mice from early-passage embryonic stem cells.
Nagy, A., Rossant, J., Nagy, R., Abramow-Newerly, W., & Roder, J. C. (1993) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.90.18.8424 · Cited by 2,329
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
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
Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias
Wang, Q., Curran, M. E., Splawski, I., Burn, T. C., Millholland, J. M., VanRaay, T. J., Shen, J., Timothy, K. W., Vincent, G. M., de Jager, T., et al. (1996) · Nature Genetics · doi:10.1038/ng0196-17 · Cited by 1,759
SCN5A 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
KvLQT1 and IsK (minK) proteins associate to form the IKS cardiac potassium current
Barhanin, J., Lesage, F., Guillemare, E., Fink, M., Lazdunski, M., & Romey, G. (1996) · Nature · doi:10.1038/384078a0 · Cited by 1,614
Jervell, A., & Lange-Nielsen, F. (1957) · American Heart Journal · doi:10.1016/0002-8703(57)90079-0 · Cited by 1,596
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
Kelsell, D. P., Dunlop, J., Stevens, H. P., Lench, N. J., Liang, J. N., Parry, G., Mueller, R. F., & Leigh, I. M. (1997) · Nature · doi:10.1038/387080a0 · Cited by 1,470
MiRP1 Forms IKr Potassium Channels with HERG and Is Associated with Cardiac Arrhythmia
Abbott, G. W., Sesti, F., Splawski, I., Buck, M. E., Lehmann, M. H., Timothy, K. W., Keating, M. T., & Goldstein, S. A. N. (1999) · Cell · doi:10.1016/s0092-8674(00)80728-x · Cited by 1,354
Neyroud, N., Tesson, F., Denjoy, I., Leibovici, M., Donger, C., Barhanin, J., Fauré, S., Gary, F., Coumel, P., Petit, C., et al. (1997) · Nature Genetics · doi:10.1038/ng0297-186 · Cited by 891
Cited by
The Endophenotype Concept in Psychiatry: Etymology and Strategic Intentions
Gottesman, I. I., & Gould, T. D. (2003) · American Journal of Psychiatry · doi:10.1176/appi.ajp.160.4.636 · Cited by 5,615
Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death
Mohler, P. J., Schott, J.-J., Gramolini, A. O., Dilly, K. W., Guatimosim, S., duBell, W. H., Song, L.-S., Haurogné, K., Kyndt, F., Ali, M. E., et al. (2003) · Nature · doi:10.1038/nature01335 · Cited by 957
Unoki, H., Takahashi, A., Kawaguchi, T., Hara, K., Horikoshi, M., Andersen, G., Ng, D. P. K., Holmkvist, J., Borch-Johnsen, K., Jørgensen, T., et al. (2008) · Nature Genetics · doi:10.1038/ng.208 · Cited by 725
CLC Chloride Channels and Transporters: Structure, Function, Physiology, and Disease
Jentsch, T. J., & Pusch, M. (2018) · Physiological Reviews · doi:10.1152/physrev.00047.2017 · Cited by 448
Genomic Imprinting and Kinship: How Good is the Evidence?
Haig, D. (2004) · Annual Review of Genetics · doi:10.1146/annurev.genet.37.110801.142741 · Cited by 355
Metadata
- Authors
- Casimiro, M. C., Knollmann, B. C., Ebert, S. N., Vary, J. C., Greene, A. E., Franz, M. R., Grinberg, A., Huang, S. P., & Pfeifer, K.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 2001-02-27
- Volume
- 98
- Issue
- 5
- Pages
- 2526-2531
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W2026401556
- Cited by
- 261
- References
- 36
- FWCI
- 8.84
- Type
- journal article
- Language
- en
- Open access
- green
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Targeted disruption of the Kcnq1 gene produces a mouse model of Jervell and Lange– Nielsen Syndrome. https://app.cochat.ai/papers/10.1073/pnas.041398998
- The paper
- Casimiro, M. C., Knollmann, B. C., Ebert, S. N., Vary, J. C., Greene, A. E., Franz, M. R., Grinberg, A., Huang, S. P., & Pfeifer, K. (2001). Targeted disruption of the Kcnq1 gene produces a mouse model of Jervell and Lange– Nielsen Syndrome. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.041398998
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
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.
