An Asian-specific MPL genetic variant alters JAK–STAT signaling and influences platelet count in the population
Sun P, Zhou W, Fu Y, Cheung C, Dong Y, Yang M, Zhang H, Jia J, Huo Y, Willer C, Chen Y, Tang C, Tse H, Lam K, Gao W, Xu M, Yu H, Sham P, Zhang Y, Ganesh S. An Asian-specific MPL genetic variant alters JAK–STAT signaling and influences platelet count in the population. Human Molecular Genetics 2021, 30: 836-842. PMID: 33693786, PMCID: PMC8161516, DOI: 10.1093/hmg/ddab062.Peer-Reviewed Original ResearchConceptsHematological traitsCoding variantsJAK-STATGenome-wide association studiesJAK-STAT signal transduction pathwayJAK-STAT signalingPhosphorylation of STAT3Signal transduction pathwaysGenomic discovery effortsEnhanced phosphorylation of STAT3Han Chinese populationIndependent SNPsHan Chinese subjectsAssociation studiesGenetic discoveriesGenetic variantsTransduction pathwaysBa/F3 cellsPopulation frequencyEuropean ancestryEnhanced phosphorylationMyeloproliferative leukemiaFunctional analysisAfrican populationsDiscovery efforts
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