Article
Developmental genetic determinants of the human cerebrospinal fluid-ventricular system.
Science translational medicine - 8 Jul 2026
Allington Garrett, Dennis Evan, Li Qiang, McGee Stephen, Mehta Neel H, Mekbib Kedous Y, Hatada Izuho, Weston Matthew C, Shore Amy N, Cullen Erin R, DeSpenza Tyrone, Singh Amrita, Miyagishima Danielle, Kiziltug Emre, Hale Andrew T, Duy Phan Q, Fan Baojian, Nelson-Williams Carol, Moreno-de-Luca Andrés, Kasper Ekkehard M, Smith Hannah, Davalan William C, Kundishora Adam J, Luikart Bryan W, Haider Shozeb, Alper Seth L, Lifton Richard P, Jin Sheng Chih, Kahle Kristopher T
Abstract excerpt
Primary enlargement of the cerebrospinal fluid (CSF)-filled brain ventricles, known as congenital cerebral ventriculomegaly (CCV), is a hallmark of congenital hydrocephalus. CCV is also enigmatically but frequently associated with autism and other neurodevelopmental disorders. To gain insight into the developmental genetic regulation of the human CSF-ventricular system, we conducted an integrated, multiomic study...
Topics
- Humans
- Animals
- Hydrocephalus
- Cerebrospinal Fluid
- Cerebral Ventricles
- Mutation
- Exome
- Mice