Matches in SemOpenAlex for { <https://semopenalex.org/work/W2947188840> ?p ?o ?g. }
Showing items 1 to 55 of
55
with 100 items per page.
- W2947188840 endingPage "157" @default.
- W2947188840 startingPage "157" @default.
- W2947188840 abstract "The V617F mutation in the JH2 domain of Janus kinase 2 (JAK2) is an oncogenic driver in several myeloproliferative neoplasms (MPNs), including essential thrombocythemia, myelofibrosis, and polycythemia vera (PV). Other mutations in JAK2 have been identified in MPNs, most notably exon 12 mutations in PV. Here, we describe a novel recurrent mutation characterized by a common 4-amino-acid deletion and variable 1-amino-acid insertion (Leu583-Ala586DelInsSer/Gln/Pro) within the JH2 domain of JAK2. All 4 affected patients had eosinophilia, and both patients with Leu583-Ala586DelInsSer fulfilled diagnostic criteria of both PV and chronic eosinophilic leukemia (CEL). Computational and functional studies revealed that Leu583-Ala586DelInsSer (herein referred to as JAK2ex13InDel) deregulates JAK2 through a mechanism similar to JAK2V617F, activates signal transducer and activator of transcription 5 and extracellular signal-regulated kinase, and transforms parental Ba/F3 cells to growth factor independence. In contrast to JAK2V617F, JAK2ex13InDel does not require an exogenous homodimeric type 1 cytokine receptor to transform Ba/F3 cells and is capable of activating β common chain family cytokine receptor (interleukin-3 receptor [IL-3R], IL-5R, and granulocyte-macrophage colony stimulating factor receptor) signaling in the absence of ligand, with the maximum effect observed for IL-5R, consistent with the clinical phenotype of eosinophilia. Recognizing this new PV/CEL-overlap MPN has significant clinical implications, as both PV and CEL patients are at high risk for thrombosis, and concomitant cytoreduction of red cells, neutrophils, and eosinophils may be required for prevention of thromboembolic events. Targeted next-generation sequencing for genes recurrently mutated in myeloid malignancies in patients with unexplained eosinophilia may reveal additional cases of Leu583-Ala586DelInsSer/Gln/Pro, allowing for complete characterization of this unique MPN." @default.
- W2947188840 created "2019-06-07" @default.
- W2947188840 creator A5090164650 @default.
- W2947188840 date "2019-06-01" @default.
- W2947188840 modified "2023-09-25" @default.
- W2947188840 title "Pharmacogenetics in psychosomatics - Where is the profit?" @default.
- W2947188840 doi "https://doi.org/10.1016/j.jpsychores.2019.03.174" @default.
- W2947188840 hasPublicationYear "2019" @default.
- W2947188840 type Work @default.
- W2947188840 sameAs 2947188840 @default.
- W2947188840 citedByCount "0" @default.
- W2947188840 crossrefType "journal-article" @default.
- W2947188840 hasAuthorship W2947188840A5090164650 @default.
- W2947188840 hasConcept C112392421 @default.
- W2947188840 hasConcept C203014093 @default.
- W2947188840 hasConcept C2775855021 @default.
- W2947188840 hasConcept C2778690821 @default.
- W2947188840 hasConcept C2778837598 @default.
- W2947188840 hasConcept C32465701 @default.
- W2947188840 hasConcept C502942594 @default.
- W2947188840 hasConcept C54355233 @default.
- W2947188840 hasConcept C62478195 @default.
- W2947188840 hasConcept C71924100 @default.
- W2947188840 hasConcept C86803240 @default.
- W2947188840 hasConceptScore W2947188840C112392421 @default.
- W2947188840 hasConceptScore W2947188840C203014093 @default.
- W2947188840 hasConceptScore W2947188840C2775855021 @default.
- W2947188840 hasConceptScore W2947188840C2778690821 @default.
- W2947188840 hasConceptScore W2947188840C2778837598 @default.
- W2947188840 hasConceptScore W2947188840C32465701 @default.
- W2947188840 hasConceptScore W2947188840C502942594 @default.
- W2947188840 hasConceptScore W2947188840C54355233 @default.
- W2947188840 hasConceptScore W2947188840C62478195 @default.
- W2947188840 hasConceptScore W2947188840C71924100 @default.
- W2947188840 hasConceptScore W2947188840C86803240 @default.
- W2947188840 hasLocation W29471888401 @default.
- W2947188840 hasOpenAccess W2947188840 @default.
- W2947188840 hasPrimaryLocation W29471888401 @default.
- W2947188840 hasRelatedWork W1543124619 @default.
- W2947188840 hasRelatedWork W1984435581 @default.
- W2947188840 hasRelatedWork W2009085380 @default.
- W2947188840 hasRelatedWork W2157205354 @default.
- W2947188840 hasRelatedWork W2188192784 @default.
- W2947188840 hasRelatedWork W2388836216 @default.
- W2947188840 hasRelatedWork W2481496926 @default.
- W2947188840 hasRelatedWork W3029641958 @default.
- W2947188840 hasRelatedWork W4286449000 @default.
- W2947188840 hasRelatedWork W4303633760 @default.
- W2947188840 hasVolume "121" @default.
- W2947188840 isParatext "false" @default.
- W2947188840 isRetracted "false" @default.
- W2947188840 magId "2947188840" @default.
- W2947188840 workType "article" @default.