Activation of TGF-β signaling in an aortic aneurysm in a patient with Loeys-Dietz syndrome caused by a novel loss-of-function variant of TGFBR1

Ítems similars

• TGF-β Signaling-Related Genes and Thoracic Aortic Aneurysms and Dissections
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• Unique Mechanism by Which TGFBR1 Variants Cause 2 Distinct System Diseases　― Loeys-Dietz Syndrome and Multiple Self-Healing Squamous Epithelioma ―
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• Distinct variants affecting differential splicing of TGFBR1 exon 5 cause either Loeys–Dietz syndrome or multiple self-healing squamous epithelioma
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• Surgical Outcome and Histological Differences between Individuals with TGFBR1 and TGFBR2 Mutations in Loeys-Dietz Syndrome
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• Inhibition of transforming growth factor-β signaling in myeloid cells ameliorates aortic aneurysmal formation in Marfan syndrome
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