@article {590,
	title = {EphrinB2-EphB4-RASA1 Signaling in Human Cerebrovascular Development and Disease.},
	journal = {Trends Mol Med},
	volume = {25},
	year = {2019},
	month = {2019 04},
	pages = {265-286},
	abstract = {<p>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.</p>},
	issn = {1471-499X},
	doi = {10.1016/j.molmed.2019.01.009},
	author = {Zeng, Xue and Hunt, Ava and Jin, Sheng Chih and Duran, Daniel and Gaillard, Jonathan and Kahle, Kristopher T}
}
