2017
A p190BRhoGAP mutation and prolonged RhoB activation in fatal systemic capillary leak syndrome
Pierce RW, Merola J, Lavik JP, Kluger MS, Huttner A, Khokha MK, Pober JS. A p190BRhoGAP mutation and prolonged RhoB activation in fatal systemic capillary leak syndrome. Journal Of Experimental Medicine 2017, 214: 3497-3505. PMID: 29097442, PMCID: PMC5716031, DOI: 10.1084/jem.20162143.Peer-Reviewed Original ResearchConceptsTumor necrosis factorSystemic capillary leakDermal microvascular endothelial cellsMicrovascular endothelial cellsPatient-derived endothelial cellsEndothelial cellsCapillary leakNormal human dermal microvascular endothelial cellsSystemic capillary leak syndromeBarrier functionCapillary leak syndromeHuman dermal microvascular endothelial cellsTransendothelial electrical resistanceEC barrier functionNormal endothelial cellsLeak syndromeCritical illnessFatal casesNecrosis factorBarrier recoverySiRNA knockdownEC culturesRhoB activationGreater increaseJunctional proteins
2012
Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells
Abyzov A, Mariani J, Palejev D, Zhang Y, Haney MS, Tomasini L, Ferrandino AF, Rosenberg Belmaker LA, Szekely A, Wilson M, Kocabas A, Calixto NE, Grigorenko EL, Huttner A, Chawarska K, Weissman S, Urban AE, Gerstein M, Vaccarino FM. Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells. Nature 2012, 492: 438-442. PMID: 23160490, PMCID: PMC3532053, DOI: 10.1038/nature11629.Peer-Reviewed Original Research