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Drug-based therapies for vascular disease in Marfan syndrome: from mouse models to human patients.

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.

SUBMITTER: Cook JR

PROVIDER: S-EPMC2917828 | biostudies-literature | 2010 Jul-Aug

REPOSITORIES: biostudies-literature

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Drug-based therapies for vascular disease in Marfan syndrome: from mouse models to human patients.

Cook Jason R JR Nistala Harikiran H Ramirez Francesco F

The Mount Sinai journal of medicine, New York 20100701 4

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 ...[more]

PMID: 20687182

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