2019
SF3B1 Mutations Induce Oncogenic IRAK4 Isoforms and Activate Targetable Innate Immune Pathways in MDS and AML
Choudhary G, Smith M, Pellagatti A, Bhagat T, Gordon S, Pandey S, Shah N, Aluri S, Booher R, Ramachandra M, Samson M, Pradhan K, Bowman T, Pillai M, Guha C, Wickrema A, Will B, Shastri A, Steidl U, Boultwood J, Starczynowski D, Verma A. SF3B1 Mutations Induce Oncogenic IRAK4 Isoforms and Activate Targetable Innate Immune Pathways in MDS and AML. Blood 2019, 134: 4224. DOI: 10.1182/blood-2019-124458.Peer-Reviewed Original ResearchToll-like receptorsAML cellsSF3B1 mutationsMDS/AML cellsInterleukin-1 Receptor-Associated KinaseMDS/AMLNF-kB activityInnate immune pathwaysInnate immune signalingNormal cellsDownstream oncogenic pathwaysLeukemic burdenCytokine releaseIRAK4 expressionNF-kBAML samplesImmune pathwaysSmall molecule inhibitorsNovartis PharmaceuticalsLeukemic cellsExon 6Mutation showTRAF6 activationAMLPharmacologic inhibition
2013
Expression Of Mutant Spliceosomal Protein SF3B1 Results In Dysregulated Hematopoietic Maturation
Minella A, Ramirez O, Xu Y, Murthy T, Yang X, Pillai M. Expression Of Mutant Spliceosomal Protein SF3B1 Results In Dysregulated Hematopoietic Maturation. Blood 2013, 122: 2773. DOI: 10.1182/blood.v122.21.2773.2773.Peer-Reviewed Original ResearchSplicing of RNAErythroid maturationErythroid differentiationRNA splicing factorsMurine progenitor cellsMyelodysplastic syndromeWhole-genome sequencingSpliceosomal proteinsSplicing factorsColony forming assaysMutant SF3B1SF3B1 mutationsHematopoietic maturationCDNA constructsHuman cord bloodComplementary experimental approachesAddition of erythropoietinHematopoietic precursor cellsGenome sequencingMDS patientsMolecular mechanismsPosition 700Accessory receptorsHematopoietic progenitorsNormal hematopoiesis