Cooperation of germ line JAK2 mutations E846D and R1063H in hereditary erythrocytosis with megakaryocytic atypia
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61989592%3A15110%2F16%3A33160561" target="_blank" >RIV/61989592:15110/16:33160561 - isvavai.cz</a>
Result on the web
<a href="http://www.bloodjournal.org/content/bloodjournal/128/10/1418.full.pdf" target="_blank" >http://www.bloodjournal.org/content/bloodjournal/128/10/1418.full.pdf</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1182/blood-2016-02-698951" target="_blank" >10.1182/blood-2016-02-698951</a>
Alternative languages
Result language
angličtina
Original language name
Cooperation of germ line JAK2 mutations E846D and R1063H in hereditary erythrocytosis with megakaryocytic atypia
Original language description
The role of somatic JAK2 mutations in clonal myeloproliferative neoplasms is well established. Germline JAK2 mutations have previously been described in cases with hereditary polyclonal thrombocytosis. In our work, for the first time in the literature, we studied two JAK2 germline mutations (E846D and R1063H) found in a patient with congenital erythrocytosis and abnormal megakaryopoiesis, partially resembling PV cases with JAK2 exon 12 mutations. Our results revealed that both these mutations exhibit pathologic activation of STAT5 in the specific context of EPOR. Functional analyses of the two germline JAK2 mutations suggested the threshold of JAK2 activity necessary for induction of a congenital disease.
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FD - Oncology and haematology
OECD FORD branch
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Result continuities
Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2016
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Blood (print)
ISSN
0006-4971
e-ISSN
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Volume of the periodical
128
Issue of the periodical within the volume
10
Country of publishing house
US - UNITED STATES
Number of pages
6
Pages from-to
1418-1423
UT code for WoS article
000383945100013
EID of the result in the Scopus database
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