Ontology highlight
ABSTRACT:
SUBMITTER: Chapeau EA
PROVIDER: S-EPMC6786561 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Chapeau Emilie A EA Mandon Emeline E Gill Jason J Romanet Vincent V Ebel Nicolas N Powajbo Violetta V Andraos-Rey Rita R Qian Zhiyan Z Kininis Miltos M Zumstein-Mecker Sabine S Ito Moriko M Hynes Nancy E NE Tiedt Ralph R Hofmann Francesco F Eshkind Leonid L Bockamp Ernesto E Kinzel Bernd B Mueller Matthias M Murakami Masato M Baffert Fabienne F Radimerski Thomas T
PloS one 20191010 10
Aberrant activation of the JAK/STAT pathway is thought to be the critical event in the pathogenesis of the chronic myeloproliferative neoplasms, polycythemia vera, essential thrombocythemia and primary myelofibrosis. The most frequent genetic alteration in these pathologies is the activating JAK2V617F mutation, and expression of the mutant gene in mouse models was shown to cause a phenotype resembling the human diseases. Given the body of genetic evidence, it has come as a sobering finding that ...[more]