The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
The molecular genetics of Marfan syndrome and related disorders
Open accessAbstract
Marfan syndrome (MFS), a relatively common autosomal dominant hereditary disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular systems, is caused by mutations in the gene for fibrillin-1 (FBN1). The leading cause of premature death in untreated individuals with MFS is acute aortic dissection, which often follows a period of progressive dilatation of the ascending aorta. Recent research on the molecular physiology of fibrillin and the pathophysiology of MFS and related disorders has changed our understanding of this disorder by demonstrating changes in growth factor signalling and in matrix-cell interactions. The purpose of this review is to provide a comprehensive overview of recent advances in the molecular biology of fibrillin and fibrillin-rich microfibrils. Mutations in FBN1 and other genes found in MFS and related disorders will be discussed, and novel concepts concerning the complex and multiple mechanisms of the pathogenesis of MFS will be explained.
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Cites
Molecular Basis of Elastic Fiber Formation
Rock, M. J., Cain, S. A., Freeman, L. J., Morgan, A., Mellody, K., Marson, A., Shuttleworth, C. A., Weiss, A. S., & Kielty, C. M. (2004) · Journal of Biological Chemistry · doi:10.1074/jbc.m400212200 · Cited by 167
Self-citationFibrillin Microfibrils are Stiff Reinforcing Fibres in Compliant Tissues
Sherratt, M. J., Baldock, C., Louise Haston, J., Holmes, D. F., Jones, C. J. P., Adrian Shuttleworth, C., Wess, T. J., & Kielty, C. M. (2003) · Journal of Molecular Biology · doi:10.1016/s0022-2836(03)00829-5 · Cited by 147
Self-citation
Cited by
Erbel (2014) · doi:10.1093/eurheartj/ehu281 · Cited by 4,451
The human phenotype ontology: a tool for annotating and analyzing human hereditary disease
Robinson, P. N., Köhler, S., Bauer, S., Seelow, D., Horn, D., & Mundlos, S. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.09.017 · Cited by 1,034
Self-citationTGF-β Superfamily Signaling in Embryonic Development and Homeostasis
Wu, M. Y., & Hill, C. S. (2009) · Developmental Cell · doi:10.1016/j.devcel.2009.02.012 · Cited by 746
TGF-β signaling in vascular biology and dysfunction
Goumans, M.-J., Liu, Z., & ten Dijke, P. (2009) · Cell Research · doi:10.1038/cr.2008.326 · Cited by 601
Halper, J., & Kjaer, M. (2014) · Advances in Experimental Medicine and Biology · doi:10.1007/978-94-007-7893-1_3 · Cited by 532
Metadata
- Authors
- Robinson, P. N., Arteaga-Solis, E., Baldock, C., Collod-Béroud, G., Booms, P., De Paepe, A., Dietz, H. C., Guo, G., Handford, P. A., Judge, D. P., Kielty, C. M., Loeys, B., Milewicz, D. M., Ney, A., Ramirez, F., Reinhardt, D. P., Tiedemann, K., Whiteman, P., & Godfrey, M.
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2006-03-29
- Volume
- 43
- Issue
- 10
- Pages
- 769-787
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- OpenAlex
- W2172085460
- Cited by
- 430
- References
- 2
- FWCI
- 15.55
- Type
- journal article
- Language
- en
- Open access
- bronze
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- The paper
- Robinson, P. N., Arteaga-Solis, E., Baldock, C., Collod-Béroud, G., Booms, P., De Paepe, A., Dietz, H. C., Guo, G., Handford, P. A., Judge, D. P., Kielty, C. M., Loeys, B., Milewicz, D. M., Ney, A., Ramirez, F., Reinhardt, D. P., Tiedemann, K., Whiteman, P., & Godfrey, M. (2006). The molecular genetics of Marfan syndrome and related disorders. Journal of Medical Genetics. https://doi.org/10.1136/jmg.2005.039669
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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