Abstract |
Marfan syndrome is a congenital disorder of the connective tissue with a long history of clinical and basic science breakthroughs that have forged our understanding of vascular-disease pathogenesis. The biomedical importance of Marfan syndrome was recently underscored by the discovery that the underlying genetic lesion impairs both tissue integrity and transforming growth factor-beta regulation of cell behavior. This discovery has led to the successful implementation of the first pharmacological intervention in a connective-tissue disorder otherwise incurable by either gene-based or stem cell-based therapeutic strategies. More generally, information gathered from the study of Marfan syndrome pathogenesis has the potential to improve the clinical management of common acquired disorders of connective-tissue degeneration.
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Authors | Jason R Cook, Harikiran Nistala, Francesco Ramirez |
Journal | The Mount Sinai journal of medicine, New York
(Mt Sinai J Med)
2010 Jul-Aug
Vol. 77
Issue 4
Pg. 366-73
ISSN: 1931-7581 [Electronic] United States |
PMID | 20687182
(Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Review)
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Copyright | 2010 Mount Sinai School of Medicine. |
Chemical References |
- Angiotensin II Type 1 Receptor Blockers
- Antihypertensive Agents
- Fibrillins
- Microfilament Proteins
- Transforming Growth Factor beta
- Losartan
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Topics |
- Angiotensin II Type 1 Receptor Blockers
(therapeutic use)
- Animals
- Antihypertensive Agents
(pharmacology, therapeutic use)
- Aorta
(pathology)
- Aortic Aneurysm, Thoracic
(drug therapy, genetics, pathology)
- Connective Tissue
(drug effects, pathology)
- Disease Models, Animal
- Fibrillins
- Humans
- Losartan
(pharmacology, therapeutic use)
- Marfan Syndrome
(drug therapy, genetics, pathology)
- Mice
- Microfilament Proteins
(drug effects)
- Renin-Angiotensin System
(drug effects)
- Signal Transduction
(drug effects)
- Transforming Growth Factor beta
(drug effects)
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