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

Eitemau Tebyg

• TGF-β Signaling-Related Genes and Thoracic Aortic Aneurysms and Dissections
  gan: Takeda, Norifumi, et al.
  Cyhoeddwyd: (2018)
• Unique Mechanism by Which TGFBR1 Variants Cause 2 Distinct System Diseases　― Loeys-Dietz Syndrome and Multiple Self-Healing Squamous Epithelioma ―
  gan: Fujiwara, Takayuki, et al.
  Cyhoeddwyd: (2019)
• Distinct variants affecting differential splicing of TGFBR1 exon 5 cause either Loeys–Dietz syndrome or multiple self-healing squamous epithelioma
  gan: Fujiwara, Takayuki, et al.
  Cyhoeddwyd: (2018)
• Surgical Outcome and Histological Differences between Individuals with TGFBR1 and TGFBR2 Mutations in Loeys-Dietz Syndrome
  gan: Seike, Yoshimasa, et al.
  Cyhoeddwyd: (2021)
• Inhibition of transforming growth factor-β signaling in myeloid cells ameliorates aortic aneurysmal formation in Marfan syndrome
  gan: Hara, Hironori, et al.
  Cyhoeddwyd: (2020)