The DOI matches its Crossref record; 16 of the 16 references it cites were found in a registry or an index.
De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction
Open accessAbstract
Smooth muscle cells (SMCs) contract to perform many physiological functions, including regulation of blood flow and pressure in arteries, contraction of the pupils, peristalsis of the gut, and voiding of the bladder. SMC lineage in these organs is characterized by cellular expression of the SMC isoform of α‐actin, encoded by the ACTA2 gene. We report here on a unique and de novo mutation in ACTA2, R179H, that causes a syndrome characterized by dysfunction of SMCs throughout the body, leading to aortic and cerebrovascular disease, fixed dilated pupils, hypotonic bladder, malrotation, and hypoperistalsis of the gut and pulmonary hypertension. © 2010 Wiley‐Liss, Inc.
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Cites
Moyamoya Disease and Moyamoya Syndrome
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Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections
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Guo, D.-C., Papke, C. L., Tran-Fadulu, V., Regalado, E. S., Avidan, N., Johnson, R. J., Kim, D. H., Pannu, H., Willing, M. C., Sparks, E., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.04.007 · Cited by 575
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Milewicz, D. M., Guo, D.-C., Tran-Fadulu, V., Lafont, A. L., Papke, C. L., Inamoto, S., Kwartler, C. S., & Pannu, H. (2008) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.8.080706.092303 · Cited by 404
Self-citationThe functional importance of multiple actin isoforms
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Cited by
Isselbacher, E. M., Preventza, O., Hamilton Black, J., Augoustides, J. G., Beck, A. W., Bolen, M. A., Braverman, A. C., Bray, B. E., Brown-Zimmerman, M. M., Chen, E. P., et al. (2022) · Circulation · doi:10.1161/cir.0000000000001106 · Cited by 2,082
Stroke risk factors, genetics, and prevention
Boehme, A. K., Esenwa, C., & Elkind, M. S. V. (2017) · Circulation Research · doi:10.1161/circresaha.116.308398 · Cited by 1,952
Metadata
- Authors
- Milewicz, D. M., Østergaard, J. R., Ala‐Kokko, L. M., Khan, N., Grange, D. K., Mendoza‐Londono, R., Bradley, T. J., Olney, A. H., Adès, L., Maher, J. F., Guo, D., Buja, L. M., Kim, D., Hyland, J. C., & Regalado, E. S.
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2010-08-23
- Volume
- 152A
- Issue
- 10
- Pages
- 2437-2443
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- OpenAlex
- W2051889170
- Cited by
- 276
- References
- 16
- FWCI
- 5.53
- Type
- journal article
- Language
- en
- Open access
- green
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- Milewicz, D. M., Østergaard, J. R., Ala‐Kokko, L. M., Khan, N., Grange, D. K., Mendoza‐Londono, R., Bradley, T. J., Olney, A. H., Adès, L., Maher, J. F., Guo, D., Buja, L. M., Kim, D., Hyland, J. C., & Regalado, E. S. (2010). De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. American Journal of Medical Genetics Part A. https://doi.org/10.1002/ajmg.a.33657
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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.
