Genes in Thoracic Aortic Aneurysms and Dissections - Do they Matter?: Translation and Integration of Research and Modern Genetic Techniques into Daily Clinical Practice.

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Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys-Dietz syndrome (LDS) impairs canonical TGF-β signaling Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta.

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Genes in Thoracic Aortic Aneurysms and Dissections - Do they Matter?: Translation and Integration of Research and Modern Genetic Techniques into Daily Clinical Practice.

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2013 nî lūn-bûn

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Genes in Thoracic Aortic Aneur ...... into Daily Clinical Practice.

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Genes in Thoracic Aortic Aneur ...... into Daily Clinical Practice.

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Genes in Thoracic Aortic Aneur ...... into Daily Clinical Practice.

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Katrien François

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Laurence Campens

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Marjolijn Renard

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Paul Coucke

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P2860

Mutations in myosin light chain kinase cause familial aortic dissections

Mutations in NOTCH1 cause aortic valve disease

Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein

Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms

Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood

Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome

Marfan's syndrome

Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease

Latent transforming growth factor-beta binding proteins (LTBPs)--structural extracellular matrix proteins for targeting TGF-beta action

Role of the latent transforming growth factor beta binding protein 1 in fibrillin-containing microfibrils in bone cells in vitro and in vivo

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135-145

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scholarly article

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10.12945/J.AORTA.2013.13-024

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Genes in Thoracic Aortic Aneurysms and Dissections - Do they Matter?: Translation and Integration of Research and Modern Genetic Techniques into Daily Clinical Practice.

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P2860

P2860

Genes in Thoracic Aortic Aneurysms and Dissections - Do they Matter?: Translation and Integration of Research and Modern Genetic Techniques into Daily Clinical Practice.

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