@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}
}
@article {407,
	title = {Digenic mutations of human  paralogs in Dent{\textquoteright}s disease type 2 associated with Chiari I malformation.},
	journal = {Hum Genome Var},
	volume = {3},
	year = {2016},
	month = {2016},
	pages = {16042},
	abstract = {<p> and its paralog  encode phosphatidylinositol 5-phosphatases that localize to the primary cilium and have roles in ciliogenesis. Mutations in  cause the X-linked Dent disease type 2 (DD2; OMIM$\#$ 300555), characterized by low-molecular weight proteinuria, hypercalciuria, and the variable presence of cataracts, glaucoma and intellectual disability without structural brain anomalies. Disease-causing mutations in  have not been described in humans. Here, we report the case of an 11-year-old boy with short stature and an above-average IQ; severe proteinuria, hypercalciuria and osteopenia resulting in a vertebral compression fracture; and Chiari I malformation with cervico-thoracic syringohydromyelia requiring suboccipital decompression. Sequencing revealed a novel,  DD2-causing 462 bp deletion disrupting exon 3 of  and a maternally inherited, extremely rare (ExAC allele frequency 8.4{\texttimes}10) damaging missense mutation in  (p.A51V). This mutation substitutes an evolutionarily conserved amino acid in the protein{\textquoteright}s critical PH domain.  analyses of mutation impact predicted by SIFT, PolyPhen2, MetaSVM and CADD algorithms were all highly deleterious. Together, our findings report a novel association of DD2 with Chiari I malformation and syringohydromyelia, and document the effects of digenic mutation of human  paralogs. These findings lend genetic support to the hypothesis that impaired ciliogenesis may contribute to the development of Chiari I malformation, and implicates OCRL-dependent PIP metabolism in this mechanism.</p>},
	issn = {2054-345X},
	doi = {10.1038/hgv.2016.42},
	author = {Duran, Daniel and Jin, Sheng Chih and DeSpenza, Tyrone and Nelson-Williams, Carol and Cogal, Andrea G and Abrash, Elizabeth W and Harris, Peter C and Lieske, John C and Shimshak, Serena Je and Mane, Shrikant and Bilguvar, Kaya and DiLuna, Michael L and G{\"u}nel, Murat and Lifton, Richard P and Kahle, Kristopher T}
}
