This review summarizes the genetic basis of hydrocephalus, including genes, pathways, and mechanisms, to highlight the complexity and global impact of its genetic contributions.

Fluids and Barriers of the CNS · Mar 4, 2024Peer-reviewedGenetic & Genomic Medicine

Endothelial sampling in situ enables genetic characterization of vein of Galen Malformation

Andrew T. Hale, Shanrun Liu, Fengyuan Huang, Yuwei Song, Michael R. Crowley, David K. Crossman, Caroline V. Caudill, Anastasia A. Smith, Lindsey Chapman, Michael J. Feldman, Benjamin W. Saccomano, Brandon George Rocque, Curtis J. Rozzelle, Jeffrey P. Blount, James M. Johnston, , Jesse George Atherton Jones

This study uses endoluminal tissue sampling to analyze genetic and transcriptional features of vein of Galen malformation endothelial cells.

medRxiv · Dec 1, 2023 · PreprintGenetic & Genomic Medicine

Genetic dysregulation of an endothelial Ras signaling network in vein of Galen malformations

Shujuan Zhao, Kedous Y. Mekbib, Martijn A. van der Ent, Garrett Allington, Andrew E. Prendergast, Jocelyn E. Chau, Hannah Louise Smith, John P. Shohfi, Jack Ocken, Daniel Durán, Charuta Gavankar Furey, Hao Thi Le, Phan Q. Duy, Benjamin C. Reeves, Junhui Zhang, , Kristopher Thomas Kahle

The paper identifies genetic variants in RASA1 and EPHB4 associated with vein of Galen malformations through exome analysis and single-cell transcriptomics.

bioRxiv · Mar 18, 2023 · PreprintGenomics