2016
GNA14 Somatic Mutation Causes Congenital and Sporadic Vascular Tumors by MAPK Activation
Lim YH, Bacchiocchi A, Qiu J, Straub R, Bruckner A, Bercovitch L, Narayan D, Genomics Y, McNiff J, Ko C, Robinson-Bostom L, Antaya R, Halaban R, Choate KA. GNA14 Somatic Mutation Causes Congenital and Sporadic Vascular Tumors by MAPK Activation. American Journal Of Human Genetics 2016, 99: 443-450. PMID: 27476652, PMCID: PMC4974082, DOI: 10.1016/j.ajhg.2016.06.010.Peer-Reviewed Original ResearchMeSH KeywordsCells, CulturedChild, PreschoolEnzyme ActivationGTP-Binding Protein alpha SubunitsGTP-Binding Protein alpha Subunits, Gq-G11Human Umbilical Vein Endothelial CellsHumansInfantInfant, NewbornIntercellular Signaling Peptides and ProteinsMaleMAP Kinase Signaling SystemMelanocytesMitogen-Activated Protein KinasesMutationProto-Oncogene Proteins c-aktVascular NeoplasmsConceptsLobular capillary hemangiomaVascular tumorsKaposiform hemangioendotheliomaMonths of lifeYears of ageSomatic activating mutationsGNA14 mutationsHuman endothelial cellsPharmacologic interventionsSignificant complicationsCommon neoplasmCapillary hemangiomaInfantile hemangiomasLCH lesionsPrimary human endothelial cellsTherapeutic interventionsActivating mutationsGNA11 mutationsTumorsEndothelial cellsLesionsPotential targetHemangiomaGNA14Somatic mutations
2013
RAC1P29S is a spontaneously activating cancer-associated GTPase
Davis MJ, Ha BH, Holman EC, Halaban R, Schlessinger J, Boggon TJ. RAC1P29S is a spontaneously activating cancer-associated GTPase. Proceedings Of The National Academy Of Sciences Of The United States Of America 2013, 110: 912-917. PMID: 23284172, PMCID: PMC3549122, DOI: 10.1073/pnas.1220895110.Peer-Reviewed Original ResearchAmino Acid SubstitutionAnimalsCell Surface ExtensionsChlorocebus aethiopsCOS CellsCrystallography, X-RayEnzyme ActivationGenetic Association StudiesGuanosine TriphosphateHumansHydrolysisKineticsMelanomaMiceMicroscopy, FluorescenceModels, MolecularMutation, MissenseNIH 3T3 CellsOncogenesRac1 GTP-Binding ProteinRecombinant Fusion ProteinsSignal TransductionStatic Electricity
1997
Diminished TCR signaling in cutaneous T cell lymphoma is associated with decreased activities of Zap70, Syk and membrane-associated Csk
Fargnoli M, Edelson R, Berger C, Chimenti S, Couture C, Mustelin T, Halaban R. Diminished TCR signaling in cutaneous T cell lymphoma is associated with decreased activities of Zap70, Syk and membrane-associated Csk. Leukemia 1997, 11: 1338-1346. PMID: 9264390, DOI: 10.1038/sj.leu.2400745.Peer-Reviewed Original ResearchMeSH KeywordsAdultCSK Tyrosine-Protein KinaseEnzyme ActivationEnzyme PrecursorsHumansImmunophenotypingIntracellular Signaling Peptides and ProteinsLymphoma, T-Cell, CutaneousPhosphotyrosineProtein-Tyrosine KinasesReceptors, Antigen, T-CellSignal TransductionSkin NeoplasmsSrc-Family KinasesSyk KinaseT-LymphocytesZAP-70 Protein-Tyrosine KinaseConceptsCutaneous T-cell lymphomaProtein tyrosine kinasesFunction of membersSignal transduction moleculesWeak mitogenic responseActivity of SykTCR ζ-chainCell surface receptorsTCR/CD3Membrane-bound fractionCellular proteinsTyrosyl phosphorylationT-cell lymphomaTyrosine phosphorylationTransduction moleculesLck kinaseTyrosine kinaseDistinct familiesΖ chainEffector moleculesKinaseSurface receptorsEnzymatic activityCell lymphomaNeoplastic cells