The formation of a somatic mutation in the HLA-B gene throughout the development of the disease from severe aplastic anaemia to acute myeloid leukaemia
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00023736%3A_____%2F19%3A00012900" target="_blank" >RIV/00023736:_____/19:00012900 - isvavai.cz</a>
Result on the web
<a href="https://doi.org/10.1111/tan.13762" target="_blank" >https://doi.org/10.1111/tan.13762</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1111/tan.13762" target="_blank" >10.1111/tan.13762</a>
Alternative languages
Result language
angličtina
Original language name
The formation of a somatic mutation in the HLA-B gene throughout the development of the disease from severe aplastic anaemia to acute myeloid leukaemia
Original language description
We detected a somatic mutation in the HLA-B gene in a Czech hematooncological patient. We followed the development of this somatic mutation during the transition from severe aplastic anaemia through to myelodysplastic syndrome to acute myeloid leukaemia until haploidentical related transplantation. The somatic mutation differs from HLA-B*14:02 in exon 3 resulting in an exchange from cysteine to serine at position 101 of the mature protein. Homology modelling of mutated S101 in HLA-B*14 indicated possible conformational changes, which might also result in an aberrant expression. The assumption is that somatic mutation arose as a possible result of a selection mediated by a protective immune response against leukaemia
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - 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
Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2019
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
HLA
ISSN
2059-2302
e-ISSN
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Volume of the periodical
94
Issue of the periodical within the volume
S2
Country of publishing house
US - UNITED STATES
Number of pages
4
Pages from-to
30-33
UT code for WoS article
000521282900007
EID of the result in the Scopus database
2-s2.0-85076922120