International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations
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منابع مشابه
International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium).
BACKGROUND The natural history of aortic diseases in patients with TGFBR1 or TGFBR2 mutations reported by different investigators has varied greatly. In particular, the current recommendations for the timing of surgical repair of the aortic root aneurysms may be overly aggressive. METHODS AND RESULTS The Montalcino Aortic Consortium, which includes 15 centers worldwide that specialize in heri...
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TGFBR1 and TGFBR2 gene mutations have been associated with Marfan syndrome types 1 and 2, Loeys-Dietz syndrome and isolated familial thoracic aortic aneurysms or dissection. In order to investigate the molecular and clinical spectrum of TGFBR2 mutations we screened the gene in 457 probands suspected of being affected with Marfan syndrome or related disorders that had been referred to our labora...
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Mutations in the genes encoding transforming growth factor β receptors 1 and 2 (TGFBR1 and TGFBR2) have recently been associated with hereditary connective tissue disorders with widespread vascular involvement, including arterial dissection. To determine whether mutations in these genes cause spontaneous cervical artery dissection (sCAD), all coding exons of TGFBR1 and TGFBR2 were sequenced in ...
متن کاملAssociations of TGFBR1 and TGFBR2 gene polymorphisms with the risk of hypospadias: a case–control study in a Chinese population
This case-control study investigated the association of transforming growth factor-β (TGF-β) receptor type I and II (TGFBR1 and TGFBR2) gene polymorphisms with the risk of hypospadias in a Chinese population. One hundred and sixty two patients suffering from hypospadias were enrolled as case group and 165 children who underwent circumcision were recruited as control group. Single nucleotide pol...
متن کاملIn silico analysis of the potential effects of the disease-associated point mutations on the kinase activity of TGFBR1 and TGFBR2 receptors
Annick Barre, Jean-Philippe Borges, Stéphanie Caze-Subra, Camille Gironde, Pierre Rougé Université de Toulouse; UPS; UMR 152 Pharma-Dev; Université Toulouse 3, Faculté des Sciences Pharmaceutiques, F-31062 Toulouse cedex 09, France Institut de Recherche pour le Développement (IRD); UMR 152 Pharma-Dev; F-31062 Toulouse cedex 09, France TGFBR1 and TGFBR2 mutations associated with Marfan syndrome-...
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تاریخ انتشار 2016