Paula G Heller
Heller P, Glembotsky A, Gandhi M, Cummings C, Pirola C, Marta R, et al
. Low Mpl receptor expression in a pedigree with familial platelet disorder with predisposition to acute myelogenous leukemia and a novel AML1 mutation. Blood. 2005;105:4664-70 pubmed
..In conclusion, we identified a C-terminal AML1 mutation that leads to a decrease in Mpl receptor expression, providing a potential explanation for thrombocytopenia in this FPD/AML pedigree. ..
Heller P, Lev P, Salim J, Kornblihtt L, Goette N, Chazarreta C, et al
. JAK2V617F mutation in platelets from essential thrombocythemia patients: correlation with clinical features and analysis of STAT5 phosphorylation status. Eur J Haematol. 2006;77:210-6 pubmed
..Even though this mutation has been predicted to constitutively activate the JAK2 kinase, spontaneous phosphorylation of STAT5 does not seem to be a frequent finding in platelets from ET patients. ..