A novel germline hyperactivating JAK2 mutation L604F

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023736%3A_____%2F03%3A00013556" target="_blank" >RIV/00023736:_____/03:00013556 - isvavai.cz</a>

Result on the web

<a href="https://doi.org/10.1007/s00277-023-05423-y" target="_blank" >https://doi.org/10.1007/s00277-023-05423-y</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1007/s00277-023-05423-y" target="_blank" >10.1007/s00277-023-05423-y</a>

Result language

angličtina

Original language name

A novel germline hyperactivating JAK2 mutation L604F

Original language description

Somatic JAK2 mutations are the main molecular cause of the vast majority of polycythemia vera (PV) cases. According to a recent structural model, the prevalent acquired V617F mutation improves the stability of the JAK2 dimer, thereby enhancing the constitutive JAK2 kinase activity. Germline JAK2 mutations usually do not largely alter JAK2 signaling, although they may modulate the impact of V617F. We found an unusual germline JAK2 mutation L604F in homozygous form in a young PV patient, along with a low allele burden JAK2 V617F mutation, and in her apparently healthy sister.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

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OECD FORD branch

30205 - Hematology

Project

—

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2003

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Annals of hematology

ISSN

0939-5555

e-ISSN

—

Volume of the periodical

102

Issue of the periodical within the volume

10

Country of publishing house

DE - GERMANY

Number of pages

10

Pages from-to

2725-2734

UT code for WoS article

001063780800001

EID of the result in the Scopus database

2-s2.0-85168899658