The molecular pathogenesis of the Marfan syndrome. Cell Mol Life Sci. 2001;58:1698-707.Robinson PN, Booms P (2001) The molecular pathogenesis of the Marfan syndrome. Cell Mol Life Sci 58:1698-1707 doi:10.1007/ PL00000807Robinson PN, Booms P. The molecular pathogenesis of the Marfan ...
Defects of fibrillin (FBN1), a glycoprotein component of the extracellular microfibril, cause Marfan syndrome. This disorder is characterized by marked inter- and intrafamilial variation in phenotypic severity. To understand the molecular basis for this clinical observation, we have screened the fibril...
Marfan syndrome is an autosomal dominant disorder of connective tissue caused by mutations in fibrillin-1 (encoded by FBN1 in humans and Fbn1 in mice), a m... ER Neptune,PA Frischmeyer,DE Arking,... - 《Nature Genetics》 被引量: 3165发表: 2003年 Inflammation and Activated Innate Immuni...
Marfan syndrome is an autosomal dominant disorder of connective tissue caused by mutations in fibrillin-1 (encoded by FBN1 in humans and Fbn1 in mice), a matrix component of extracellular microfibrils. A distinct subgroup of individuals with Marfan syndrome have distal airspace enlargement, histo...
allowing for entry of air during II inspiration but not for its escape during expiration • Accumulation of air ↑ intrapleural pressure and interferes with lung expansion on pneumothorax side 1 o Genetic ▪ Cystic fibrosis, Ehlers-Danlos syndrome, Marfan syndrome, α-1-antitrypsin deficiency ass...
Human Genome and Diseases:The molecular pathogenesis of the Marfan syndrome The Marfan syndrome (MFS) is an autosomal dominant heritable disorder of connective tissue with highly variable clinical manifestations including aortic di... PN Robinson,P Booms - 《Cellular & Molecular Life Sciences Cmls》 ...
TGF-beta regulates many aspects of cellular performance relevant to tissue morphogenesis and homeostasis. Postnatal perturbation of TGF-beta signaling contributes to the pathogenesis of many disease states, as recently exemplified through the study of Marfan syndrome (MFS), including aortic aneurysm and ...
Aortic disease in Marfan syndrome is caused by overactivation of sGC-PRKG signaling by NO Andrea de la Fuente-Alonso Marta Toral Juan Miguel Redondo Nature Communications(2021) Nature (Nature)ISSN1476-4687(online)ISSN0028-0836(print) Sign up for theNature Briefingnewsletter — what matters in sci...
Wanga, S., et al. (2017). Aortic microcalcification is associated with elastin fragmentation in Marfan syndrome: microcalcification and elastin fragmentation in Marfan syndrome.The Journal of Pathology, 243(3), 294–306.https://doi.org/10.1002/path.4949. ...
In this Review, we provide a comprehensive overview of the etiology, pathophysiology and clinical management of patients with , and discuss the most recent literature on the condition. 展开 关键词: endovascular repair Marfan's syndrome matrix metalloproteinases surgery thoracic aortic aneurysm ...