Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy

Al-Olabi, Lara; Polubothu, Satyamaanasa; Dowsett, Katherine; Andrews, Katrina; Stadnik, Paulina; Praveen Joseph, Agnel; Knox, Rachel; Pittman, Alan; M. Clark, Graeme; Baird, William; Bulstrode, Neil; Glover, Mary; Gordon, Kristiana; Hargrave, Darren; Huson, Susan; S. Jacques, Thomas; James, Greg; Kondolf, Hannah; Kangesu, Loshan; M. Keppler‐Noreuil, Kim; Amjad Khan, Muhammad; J. Lindhurst, Marjorie; Lipson, Mark; Mansour, Sahar; O’Hara, Justine; Mahon, Caroline; Mosica, Anda; Moss, Celia; S. Murthy, Aditi; Ong, Juling; Parker, Victoria; Rivière, Jean‐Baptiste; C. Sapp, Julie; J. Sebire, Neil; Shah, Rahul; Sivakumar, Branavan; Thomas, Anna; Virasami, Alex; Waelchli, Regula; Zeng, Zhiqiang; G. Biesecker, Leslie; Barnacle, Alex; Topf, Maya; K. Semple, Robert; Elizabeth Patton, E.; A. Kinsler, Veronica

doi:10.1172/jci98589

Public

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy

Published in Journal of Clinical Investigation • Feb 20, 2018

Authors:

Lara Al-Olabi

Satyamaanasa Polubothu

Katherine Dowsett

Abstract

BACKGROUND: Sporadic vascular malformations (VMs) are complex congenital anomalies of blood vessels that lead to stroke, life-threatening bleeds, disfigurement, overgrowth, and/or pain. Therapeutic options are severely limited, and multidisciplinary management remains challenging, particularly for h...

Subject

Zebrafish

Neuroblastoma RAS viral oncogene homolog

KRAS

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