The DOI matches its Crossref record.
Congenital Heart Disease Caused by Mutations in the Transcription Factor NKX2-5
Abstract
Mutations in the gene encoding the homeobox transcription factor NKX2-5 were found to cause nonsyndromic, human congenital heart disease. A dominant disease locus associated with cardiac malformations and atrioventricular conduction abnormalities was mapped to chromosome 5q35, where NKX2-5 , a Drosophila tinman homolog, is located. Three different NKX2-5 mutations were identified. Two are predicted to impair binding of NKX2-5 to target DNA, resulting in haploinsufficiency, and a third potentially augments target-DNA binding. These data indicate that NKX2-5 is important for regulation of septation during cardiac morphogenesis and for maturation and maintenance of atrioventricular node function throughout life.
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
Cited by
Transcriptional Regulatory Elements in the Human Genome
Maston, G. A., Evans, S. K., & Green, M. R. (2006) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.7.080505.115623 · Cited by 937
Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways
Benson, D. W., Silberbach, G. M., Kavanaugh-McHugh, A., Cottrill, C., Zhang, Y., Riggs, S., Smalls, O., Johnson, M. C., Watson, M. S., Seidman, J. G., et al. (1999) · Journal of Clinical Investigation · doi:10.1172/jci8154 · Cited by 690
Self-citationPierpont, M. E., Brueckner, M., Chung, W. K., Garg, V., Lacro, R. V., McGuire, A. L., Mital, S., Priest, J. R., Pu, W. T., Roberts, A., et al. (2018) · Circulation · doi:10.1161/cir.0000000000000606 · Cited by 654
The developmental genetics of congenital heart disease
Bruneau, B. G. (2008) · Nature · doi:10.1038/nature06801 · Cited by 687
Protze, S. I., Liu, J., Nussinovitch, U., Ohana, L., Backx, P. H., Gepstein, L., & Keller, G. M. (2017) · Nature Biotechnology · doi:10.1038/nbt.3745 · Cited by 366
Glessner, J. T., Bick, A. G., Ito, K., Homsy, J. G., Rodriguez-Murillo, L., Fromer, M., Mazaika, E., Vardarajan, B., Italia, M., Leipzig, J., et al. (2014) · Circulation Research · doi:10.1161/circresaha.115.304458 · Cited by 268
Self-citationChoreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency
Krude, H., Schütz, B., Biebermann, H., von Moers, A., Schnabel, D., Neitzel, H., Tönnies, H., Weise, D., Lafferty, A., Schwarz, S., et al. (2002) · Journal of Clinical Investigation · doi:10.1172/jci0214341 · Cited by 268
Olivieri, A., Stazi, M. A., Mastroiacovo, P., Fazzini, C., Medda, E., Spagnolo, A., De Angelis, S., Grandolfo, M. E., Taruscio, D., Cordeddu, V., et al. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.87.2.8235 · Cited by 224
Cardiac electrophysiology in mice: a matter of size
Kaese, S., & Verheule, S. (2012) · Frontiers in Physiology · doi:10.3389/fphys.2012.00345 · Cited by 196
Devos, H., Rodd, C., Gagné, N., Laframboise, R., & Van Vliet, G. (1999) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.84.7.5831 · Cited by 204
Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome
Ghosh, T. K. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.18.1983 · Cited by 150
Reversibility of PRKAG2 Glycogen-Storage Cardiomyopathy and Electrophysiological Manifestations
Wolf, C. M., Arad, M., Ahmad, F., Sanbe, A., Bernstein, S. A., Toka, O., Konno, T., Morley, G., Robbins, J., Seidman, J. G., et al. (2008) · Circulation · doi:10.1161/circulationaha.107.726752 · Cited by 89
Self-citationDentice, M., Luongo, C., Elefante, A., Ambrosio, R., Salzano, S., Zannini, M., Nitsch, R., Di Lauro, R., Rossi, G., Fenzi, G., et al. (2005) · Molecular and Cellular Biology · doi:10.1128/mcb.25.22.10171-10182.2005 · Cited by 48
Update of Thyroid Developmental Genes
Stoupa, A., Kariyawasam, D., Carré, A., & Polak, M. (2016) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/j.ecl.2016.01.007 · Cited by 47
Li, A., Ponten, F., & dos Remedios, C. G. (2012) · PROTEOMICS · doi:10.1002/pmic.201100492 · Cited by 47
Disorders of thyroid morphogenesis
Abu-Khudir, R., Larrivée-Vanier, S., Wasserman, J. D., & Deladoëy, J. (2017) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2017.04.008 · Cited by 46
Tan, H. L., van der Wal, A. C., Campian, M. E., Kruyswijk, H. H., ten Hove Jansen, B., van Doorn, D.-J., Oskam, H. J., Becker, A. E., & Wilde, A. A. M. (2008) · Circulation Arrhythmia and Electrophysiology · doi:10.1161/circep.108.782862 · Cited by 37
Navigating the non-coding genome in heart development and Congenital Heart Disease
Chahal, G., Tyagi, S., & Ramialison, M. (2019) · Differentiation · doi:10.1016/j.diff.2019.05.001 · Cited by 31
EL Bouchikhi, I., Belhassan, K., Moufid, F. Z., Bouguenouch, L., Samri, I., Iraqui Houssaïni, M., Ouldim, K., & Atmani, S. (2021) · Egyptian Journal of Medical Human Genetics · doi:10.1186/s43042-021-00136-1 · Cited by 4
A Non-coding HES1 Variant Predisposes Children to Congenital Heart Disease in Chinese Population
Song, Y., Chen, W., Huang, Z., Tian, G., Li, M., Zhao, Z., Feng, Z., Wu, F., Qian, M., Ma, X., et al. (2021) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2021.631942 · Cited by 2
Metadata
- Authors
- Schott, J.-J., Benson, D. W., Basson, C. T., Pease, W., Silberbach, G. M., Moak, J. P., Maron, B. J., Seidman, C. E., & Seidman, J. G.
- Venue
- Science
- Published
- 1998-07-03
- Volume
- 281
- Issue
- 5373
- Pages
- 108-111
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2040686597
- Cited by
- 1,308
- References
- 0
- FWCI
- 15.53
- Type
- journal article
- Language
- en
- Open access
- closed
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
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.
