Impact of isolated germline JAK2V617I mutation on human hematopoiesis
Mead AJ., Chowdhury O., Pecquet C., Dusa A., Woll P., Atkinson D., Burns A., Score J., Rugless M., Clifford R., Moule S., Bienz N., Vyas P., Cross N., Gale RE., Henderson S., Constantinescu SN., Schuh A., Jacobsen SEW.
Key Points Germline JAK2V617I mutation as a sole genetic event does not suppress hematopoietic stem cells. JAK2V617I induces weaker constitutive activation than JAK2V617F but considerable cytokine hyperresponsiveness.