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.
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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
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
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- CoChat. (2026). Citation check: Congenital Heart Disease Caused by Mutations in the Transcription Factor NKX2-5. https://app.cochat.ai/papers/10.1126/science.281.5373.108
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- 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. (1998). Congenital Heart Disease Caused by Mutations in the Transcription Factor NKX2-5. Science. https://doi.org/10.1126/science.281.5373.108
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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.
