The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.
Genetic Basis of Thoracic Aortic Aneurysms and Dissections: Focus on Smooth Muscle Cell Contractile Dysfunction
Open accessAbstract
Thoracic aortic aneurysms leading to type A dissections (TAAD) can be inherited in isolation or in association with genetic syndromes, such as Marfan syndrome and Loeys-Dietz syndrome. When TAAD occurs in the absence of syndromic features, it is inherited in an autosomal dominant manner with decreased penetrance and variable expression, the disease is referred to as familial TAAD. Familial TAAD exhibits significant clinical and genetic heterogeneity. The first genes identified to cause TAAD were FBN1, TGFBR2, and TGFBR1. The identification and characterization of these genes suggested that increased TGF-β signaling plays a role in pathogenesis. The recent discovery that mutations in the vascular smooth muscle cell (SMC)-specific β-myosin (MYH11) and α-actin (ACTA2) can also cause this disorder has focused attention on the importance of the maintenance of SMC contractile function in preserving aortic structure and preventing TAAD.
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Cites
Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type
Pepin, M., Schwarze, U., Superti-Furga, A., & Byers, P. H. (2000) · New England Journal of Medicine · doi:10.1056/nejm200003093421001 · Cited by 1,344
Structural and Genetic Bases of Arterial Stiffness
Laurent, S., Boutouyrie, P., & Lacolley, P. (2005) · Hypertension · doi:10.1161/01.hyp.0000164580.39991.3d · Cited by 435
Zoppi, N., Gardella, R., De Paepe, A., Barlati, S., & Colombi, M. (2004) · Journal of Biological Chemistry · doi:10.1074/jbc.m312609200 · Cited by 107
Cited by
WRITING GROUP MEMBERS, Hiratzka, L. F., Bakris, G. L., Beckman, J. A., Bersin, R. M., Carr, V. F., Casey, D. E., Eagle, K. A., Hermann, L. K., Isselbacher, E. M., et al. (2010) · Circulation · doi:10.1161/cir.0b013e3181d4739e · Cited by 2,289
Self-citationMichelena, H. I., Prakash, S. K., Della Corte, A., Bissell, M. M., Anavekar, N., Mathieu, P., Bossé, Y., Limongelli, G., Bossone, E., Benson, D. W., et al. (2014) · Circulation · doi:10.1161/circulationaha.113.007851 · Cited by 442
Self-citationRole of Mechanotransduction in Vascular Biology: Focus on Thoracic Aortic Aneurysms and Dissections
Humphrey, J. D., Schwartz, M. A., Tellides, G., & Milewicz, D. M. (2015) · Circulation Research · doi:10.1161/circresaha.114.304936 · Cited by 403
Self-citationStructure of the F-actin–tropomyosin complex
von der Ecken, J., Müller, M., Lehman, W., Manstein, D. J., Penczek, P. A., & Raunser, S. (2015) · Nature · doi:10.1038/nature14033 · Cited by 383
Elastin, arterial mechanics, and cardiovascular disease
Cocciolone, A. J., Hawes, J. Z., Staiculescu, M. C., Johnson, E. O., Murshed, M., & Wagenseil, J. E. (2018) · American Journal of Physiology-Heart and Circulatory Physiology · doi:10.1152/ajpheart.00087.2018 · Cited by 341
Metadata
- Authors
- Milewicz, D. M., Guo, D.-C., Tran-Fadulu, V., Lafont, A. L., Papke, C. L., Inamoto, S., Kwartler, C. S., & Pannu, H.
- Venue
- Annual Review of Genomics and Human Genetics
- Publisher
- Annual Reviews
- Published
- 2008-09-01
- Volume
- 9
- Issue
- 1
- Pages
- 283-302
- ISSN
- 1527-8204 (ISSN-L)
- 1545-293X
- OpenAlex
- W2165020996
- Cited by
- 404
- References
- 3
- FWCI
- 1.68
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Genetic Basis of Thoracic Aortic Aneurysms and Dissections: Focus on Smooth Muscle Cell Contractile Dysfunction. https://app.cochat.ai/papers/10.1146/annurev.genom.8.080706.092303
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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). Genetic Basis of Thoracic Aortic Aneurysms and Dissections: Focus on Smooth Muscle Cell Contractile Dysfunction. Annual Review of Genomics and Human Genetics. https://doi.org/10.1146/annurev.genom.8.080706.092303
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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.
