The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.
Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome
Open accessAbstract
Williams-Beuren syndrome (WBS) is a microdeletion disorder caused by heterozygous loss of approximately 1.5-Mb pairs of DNA from chromosome 7. Patients with WBS have a characteristic constellation of medical and cognitive findings, with a hallmark feature of generalized arteriopathy presenting as stenoses of elastic arteries and hypertension. Human and mouse studies establish that defects in the elastin gene, leading to elastin haploinsufficiency, underlie the arteriopathy. In this review we describe potential links between elastin expression and arteriopathy, possible explanations for disease variability, and current treatment options and their limitations, and we propose several new directions for the development of nonsurgical preventative therapies based on insights from elastin biology.
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Cites
Lysyl oxidase: properties, specificity, and biological roles inside and outside of the cell
Kagan, H. M., & Li, W. (2003) · Journal of Cellular Biochemistry · doi:10.1002/jcb.10413 · Cited by 954
Prevalence Estimation of Williams Syndrome
Strømme, P., Bjømstad, P. G., & Ramstad, K. (2002) · Journal of Child Neurology · doi:10.1177/088307380201700406 · Cited by 779
A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome
Osborne, L. R., Li, M., Pober, B., Chitayat, D., Bodurtha, J., Mandel, A., Costa, T., Grebe, T., Cox, S., Tsui, L.-C., et al. (2001) · Nature Genetics · doi:10.1038/ng753 · Cited by 344
Self-citationBerg, J. S., Brunetti-Pierri, N., Peters, S. U., Kang, S.-H. L., Fong, C.-T., Salamone, J., Freedenberg, D., Hannig, V. L., Prock, L. A., Miller, D. T., et al. (2007) · Genetics in Medicine · doi:10.1097/gim.0b013e3180986192 · Cited by 193
Cited by
Pober, B. R. (2010) · New England Journal of Medicine · doi:10.1056/nejmra0903074 · Cited by 848
Self-citationVascular Smooth Muscle Cells and Arterial Stiffening: Relevance in Development, Aging, and Disease
Lacolley, P., Regnault, V., Segers, P., & Laurent, S. (2017) · Physiological Reviews · doi:10.1152/physrev.00003.2017 · Cited by 734
Elastin in Large Artery Stiffness and Hypertension
Wagenseil, J. E., & Mecham, R. P. (2012) · Journal of Cardiovascular Translational Research · doi:10.1007/s12265-012-9349-8 · Cited by 462
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
Antonell, A., Del Campo, M., Magano, L. F., Kaufmann, L., Martínez de la Iglesia, J., Gallastegui, F., Flores, R., Schweigmann, U., Fauth, C., Kotzot, D., et al. (2010) · Journal of Medical Genetics · doi:10.1136/jmg.2009.071712 · Cited by 163
Metadata
- Authors
- Pober, B. R., Johnson, M., & Urban, Z.
- Venue
- Journal of Clinical Investigation
- Published
- 2008-05-01
- Volume
- 118
- Issue
- 5
- Pages
- 1606-1615
- ISSN
- 0021-9738 (ISSN-L)
- OpenAlex
- W2117768135
- Cited by
- 207
- References
- 4
- FWCI
- 3.63
- Type
- journal article
- Language
- en
- Open access
- bronze
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