Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F15%3A10295819" target="_blank" >RIV/00216208:11130/15:10295819 - isvavai.cz</a>
Alternative codes found
RIV/00064203:_____/15:10295819
Result on the web
<a href="http://dx.doi.org/10.1016/j.jaci.2015.03.005" target="_blank" >http://dx.doi.org/10.1016/j.jaci.2015.03.005</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.jaci.2015.03.005" target="_blank" >10.1016/j.jaci.2015.03.005</a>
Alternative languages
Result language
angličtina
Original language name
Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency
Original language description
Background: The endonuclease ARTEMIS, which is encoded by the DCLRE1C gene, is a component of the nonhomologous end-joining pathway and participates in hairpin opening during the V(D)J recombination process and repair of a subset of DNA double-strand breaks. Patients with ARTEMIS deficiency usually present with severe combined immunodeficiency (SCID) and cellular radiosensitivity, but hypomorphic mutations can cause milder phenotypes (leaky SCID). Objective: We sought to correlate the functional effectof human DCLRE1C mutations on phenotypic presentation in patients with ARTEMIS deficiency. Methods: We studied the recombination and DNA repair activity of 41 human DCLRE1C mutations in Dclre1c(-/-) v-abl kinase-transformed pro-B cells retrovirally engineered with a construct that allows quantification of recombination activity by means of flow cytometry. For assessment of DNA repair efficacy, resolution of gamma H2AX accumulation was studied after ionizing radiation. Results: Low or abs
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
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2015
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Journal of Allergy and Clinical Immunology
ISSN
0091-6749
e-ISSN
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Volume of the periodical
136
Issue of the periodical within the volume
1
Country of publishing house
US - UNITED STATES
Number of pages
18
Pages from-to
140-"U276"
UT code for WoS article
000357542200016
EID of the result in the Scopus database
2-s2.0-84949125497