TY - JOUR
T1 - Marfan syndrome
T2 - from molecular pathogenesis to clinical treatment
AU - Ramirez, Francesco
AU - Dietz, Harry C.
N1 - Funding Information:
We thank Ms Karen Johnson for preparing the manuscript, and members of our laboratories for their enthusiastic involvement in the work described in this review. These studies were supported by grants from the National Institutes of Health (AR-42044, AR-049698, AR41135), as well as by the Howard Hughes Medical Institute, Smilow Center for Marfan Syndrome Research, Broccoli Foundation and the National Marfan Foundation.
PY - 2007/6
Y1 - 2007/6
N2 - 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 TGFβ 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 TGFβ receptor types I and II. It has also prompted the idea that TGFβ 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.
AB - 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 TGFβ 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 TGFβ receptor types I and II. It has also prompted the idea that TGFβ 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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U2 - 10.1016/j.gde.2007.04.006
DO - 10.1016/j.gde.2007.04.006
M3 - Review article
C2 - 17467262
AN - SCOPUS:34249688228
SN - 0959-437X
VL - 17
SP - 252
EP - 258
JO - Current Opinion in Genetics and Development
JF - Current Opinion in Genetics and Development
IS - 3
ER -