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
2014
Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation
Romberg N, Al Moussawi K, Nelson-Williams C, Stiegler AL, Loring E, Choi M, Overton J, Meffre E, Khokha MK, Huttner AJ, West B, Podoltsev NA, Boggon TJ, Kazmierczak BI, Lifton RP. Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation. Nature Genetics 2014, 46: 1135-1139. PMID: 25217960, PMCID: PMC4177367, DOI: 10.1038/ng.3066.Peer-Reviewed Original Research