Journal
CURRENT OPINION IN GENETICS & DEVELOPMENT
Volume 17, Issue 3, Pages 252-258Publisher
CURRENT BIOLOGY LTD
DOI: 10.1016/j.gde.2007.04.006
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- NIAMS NIH HHS [AR41135, AR-049698, AR-42044] Funding Source: Medline
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Marfan syndrome is a connective tissue disorder with ocular, musculoskeletal and cardiovascular manifestations that are caused by mutations in fibrillin-1, the major constituent of extracellular microfibrils. Mouse models of Marfan syndrome have revealed that fibrillin-1 mutations perturb local TGF beta signaling, in addition to impairing tissue integrity. This discovery has led to the identification of a new syndrome with overlapping Marfan syndrome-like manifestations that is caused by mutations in TGF beta receptor types I and II. It has also prompted the idea that TGF beta antagonism will be a productive treatment strategy in Marfan syndrome and perhaps in other related disorders. More generally, these studies have established that Marfan syndrome is part of a group of developmental disorders with broad and complex effects on morphogenesis, homeostasis and organ function.
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