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@article{1387540,
author = {Grodecká, Lucie and Hujová, Pavla and Kramárek, Michal and Krsjakova, Tereza and Kováčová, Tatiana and Vondrášková, Katarína and Ravcukova, Barbora and Hrnčířová, Kristýna and Souček, Přemysl and Freiberger, Tomáš},
article_location = {San Diego},
article_number = {July},
doi = {http://dx.doi.org/10.1016/j.clim.2017.03.010},
keywords = {Splicing prediction; Splicing-affecting variants; Cryptic splice sites; Primary immunodeficiencies},
language = {eng},
issn = {1521-6616},
journal = {Clinical Immunology},
title = {Systematic analysis of splicing defects in selected primary immunodeficiencies-related genes},
url = {http://www.sciencedirect.com/science/article/pii/S1521661616305083?via%3Dihub},
volume = {180},
year = {2017}
}
TY - JOUR
ID - 1387540
AU - Grodecká, Lucie - Hujová, Pavla - Kramárek, Michal - Krsjakova, Tereza - Kováčová, Tatiana - Vondrášková, Katarína - Ravcukova, Barbora - Hrnčířová, Kristýna - Souček, Přemysl - Freiberger, Tomáš
PY - 2017
TI - Systematic analysis of splicing defects in selected primary immunodeficiencies-related genes
JF - Clinical Immunology
VL - 180
IS - July
SP - 33-44
EP - 33-44
PB - Elsevier Inc.
SN - 15216616
KW - Splicing prediction
KW - Splicing-affecting variants
KW - Cryptic splice sites
KW - Primary immunodeficiencies
UR - http://www.sciencedirect.com/science/article/pii/S1521661616305083?via%3Dihub
L2 - http://www.sciencedirect.com/science/article/pii/S1521661616305083?via%3Dihub
N2 - Both variants affecting splice sites and those in splicing regulatory elements (SREs) can impair pre-mRNA splicing, eventually leading to severe diseases. Despite the availability of many prediction tools, prognosis of splicing affection is not trivial, especially when SREs are involved. Here, we present data on 92 in silico-/55 minigene-analysed variants detected in genes responsible for the primary immunodeficiencies development (namely BTIC, CD4OLG, IL2RG, SERPINGI, STAT3, and WAS). Of 20 splicing-affecting variants, 16 affected splice site while 4 disrupted potential SRE. The presence or absence of splicing defects was confirmed in 30 of 32 blood-derived patients' RNAs. Testing prediction tools performance, splice site disruptions and creations were reliably predicted in contrast to SRE-affecting variants for which just ESRseq, Delta HZ(EI)-scores and EX-SKIP predictions showed promising results. Next, we found an interesting pattern in cryptic splice site predictions. These results might help PID-diagnosticians and geneticists cope with potential splicing-affecting variants. (C) 2017 Elsevier Inc. All rights reserved.
ER -
GRODECKÁ, Lucie, Pavla HUJOVÁ, Michal KRAMÁREK, Tereza KRSJAKOVA, Tatiana KOVÁČOVÁ, Katarína VONDRÁŠKOVÁ, Barbora RAVCUKOVA, Kristýna HRNČÍŘOVÁ, Přemysl SOUČEK a Tomáš FREIBERGER. Systematic analysis of splicing defects in selected primary immunodeficiencies-related genes. \textit{Clinical Immunology}. San Diego: Elsevier Inc., 2017, roč.~180, July, s.~33-44. ISSN~1521-6616. Dostupné z: https://dx.doi.org/10.1016/j.clim.2017.03.010.
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