Ontology highlight
ABSTRACT:
SUBMITTER: Oh ST
PROVIDER: S-EPMC2924231 | biostudies-literature | 2010 Aug
REPOSITORIES: biostudies-literature
Oh Stephen T ST Simonds Erin F EF Jones Carol C Hale Matthew B MB Goltsev Yury Y Gibbs Kenneth D KD Merker Jason D JD Zehnder James L JL Nolan Garry P GP Gotlib Jason J
Blood 20100419 6
Dysregulated Janus kinase-signal transducer and activator of transcription (JAK-STAT) signaling due to activation of tyrosine kinases is a common feature of myeloid malignancies. Here we report the first human disease-related mutations in the adaptor protein LNK, a negative regulator of JAK-STAT signaling, in 2 patients with JAK2 V617F-negative myeloproliferative neoplasms (MPNs). One patient exhibited a 5 base-pair deletion and missense mutation leading to a premature stop codon and loss of the ...[more]