Abstract：
: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.
journal_name
Trends Mol Medjournal_title
Trends in molecular medicineauthors
Zeng X,Hunt A,Jin SC,Duran D,Gaillard J,Kahle KTdoi
10.1016/j.molmed.2019.01.009subject
Has Abstractpub_date
2019-04-01 00:00:00pages
265-286issue
4eissn
1471-4914issn
1471-499Xpii
S1471-4914(19)30020-6journal_volume
25pub_type
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