Ontology highlight
ABSTRACT:
SUBMITTER: Jones AV
PROVIDER: S-EPMC4120192 | biostudies-literature | 2009 Apr
REPOSITORIES: biostudies-literature
Jones Amy V AV Chase Andrew A Silver Richard T RT Oscier David D Zoi Katerina K Wang Y Lynn YL Cario Holger H Pahl Heike L HL Collins Andrew A Reiter Andreas A Grand Francis F Cross Nicholas C P NC
Nature genetics 20090315 4
Chronic myeloproliferative neoplasms (MPNs) are a group of related conditions characterized by the overproduction of cells from one or more myeloid lineages. More than 95% of cases of polycythemia vera, and roughly half of essential thrombocythemia and primary myelofibrosis acquire a unique somatic 1849G>T JAK2 mutation (encoding V617F) that is believed to be a critical driver of excess proliferation. We report here that JAK2(V617F)-associated disease is strongly associated with a specific const ...[more]