EphrinB2-EphB4-RASA1 Signaling in Human Cerebrovascular Development and Disease.

TitleEphrinB2-EphB4-RASA1 Signaling in Human Cerebrovascular Development and Disease.
Publication TypeJournal Article
Year of Publication2019
AuthorsZeng, X, Hunt, A, Jin, SChih, Duran, D, Gaillard, J, Kahle, KT
JournalTrends Mol Med
Date Published2019 Apr

Recent whole exome sequencing studies in humans have provided novel insight into the importance of the ephrinB2-EphB4-RASA1 signaling axis in cerebrovascular development, corroborating and extending previous work in model systems. Here, we aim to review the human cerebrovascular phenotypes associated with ephrinB2-EphB4-RASA1 mutations, including those recently discovered in Vein of Galen malformation: the most common and severe brain arteriovenous malformation in neonates. We will also discuss emerging paradigms of the molecular and cellular pathophysiology of disease-causing ephrinB2-EphB4-RASA1 mutations, including the potential role of somatic mosaicism. These observations have potential diagnostic and therapeutic implications for patients with rare congenital cerebrovascular diseases and their families.

Alternate JournalTrends Mol Med
PubMed ID30819650
PubMed Central IDPMC6456402
Grant ListK12 NS080223 / NS / NINDS NIH HHS / United States
R01 NS109358 / NS / NINDS NIH HHS / United States
U54 HG006504 / HG / NHGRI NIH HHS / United States