JAK2 mutation and disease phenotype: a double L611V/V617F in cis mutation of JAK2 is associated with isolated erythrocytosis and increased activation of AKT and ERK1/2 rather than STAT5.
Cleyrat
C
C
Jelinek
J
J
Girodon
F
F
Boissinot
M
M
Ponge
T
T
Harousseau
J-L
JL
Issa
J-P
JP
Hermouet
S
S
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000595:Amino Acid Sequence; D000818:Animals; D001402:B-Lymphocytes / Q000378:metabolism; D001483:Base Sequence; D015153:Blotting, Western; D016022:Case-Control Studies; D002460:Cell Line; D003114:Colony-Forming Units Assay; D005260:Female; D005838:Genotype; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D051379:Mice; D008875:Middle Aged; D019950:Mitogen-Activated Protein Kinase 1 / Q000378:metabolism*; D048052:Mitogen-Activated Protein Kinase 3 / Q000378:metabolism*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D009196:Myeloproliferative Disorders / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D010641:Phenotype; D010766:Phosphorylation; D011086:Polycythemia / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology; D016133:Polymerase Chain Reaction; D051057:Proto-Oncogene Proteins c-akt / Q000378:metabolism*; D050799:STAT5 Transcription Factor / Q000378:metabolism*; D013927:Thrombosis / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D014443:Tyrosine / Q000378:metabolism; D055815:Young Adult
D050799:STAT5 Transcription Factor; D014443:Tyrosine; C507924:JAK2 protein, human; D053614:Janus Kinase 2; D051057:Proto-Oncogene Proteins c-akt; D019950:Mitogen-Activated Protein Kinase 1; D048052:Mitogen-Activated Protein Kinase 3