BALLONOVÁ, Lucie, Petra KULÍŠKOVÁ, Peter SLANINA, Julie ŠTÍCHOVÁ, Marcela VLKOVÁ, Roman HAKL, Jiří LITZMAN, Přemysl SOUČEK and Tomáš FREIBERGER. PLAUR splicing pattern in hereditary angioedema patients' monocytes and macrophages. Molecular Biology Reports. DORDRECHT: Springer, 2023, vol. 50, No 6, p. 4975-4982. ISSN 0301-4851. Available from: https://dx.doi.org/10.1007/s11033-023-08391-8.
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Basic information
Original name PLAUR splicing pattern in hereditary angioedema patients' monocytes and macrophages
Authors BALLONOVÁ, Lucie (203 Czech Republic, belonging to the institution), Petra KULÍŠKOVÁ (203 Czech Republic, belonging to the institution), Peter SLANINA (703 Slovakia, belonging to the institution), Julie ŠTÍCHOVÁ (203 Czech Republic, belonging to the institution), Marcela VLKOVÁ (203 Czech Republic, belonging to the institution), Roman HAKL (203 Czech Republic, belonging to the institution), Jiří LITZMAN (203 Czech Republic, belonging to the institution), Přemysl SOUČEK (203 Czech Republic, guarantor, belonging to the institution) and Tomáš FREIBERGER (203 Czech Republic, belonging to the institution).
Edition Molecular Biology Reports, DORDRECHT, Springer, 2023, 0301-4851.
Other information
Original language English
Type of outcome Article in a journal
Field of Study 30101 Human genetics
Country of publisher Netherlands
Confidentiality degree is not subject to a state or trade secret
WWW URL
Impact factor Impact factor: 2.800 in 2022
RIV identification code RIV/00216224:14110/23:00131130
Organization unit Faculty of Medicine
Doi http://dx.doi.org/10.1007/s11033-023-08391-8
UT WoS 000976266200003
Keywords in English PLAUR; uPAR; HAE; Differentiation; Monocyte; Macrophages
Tags 14110114, podil, rivok
Tags International impact, Reviewed
Changed by Changed by: Mgr. Tereza Miškechová, učo 341652. Changed: 23/2/2024 12:38.
Abstract
BackgroundThe PLAUR gene encodes the urokinase-like plasminogen activator receptor (uPAR) and may undergo alternative splicing. Excluding cassette exons 3, 5 and 6 from the transcript results in truncated protein variants whose precise functions have not been elucidated yet. The PLAUR gene is one of several expressed in myeloid cells, where uPAR participates in different cellular processes, including the contact activation system and kallikrein-kinin system, which play an important role in hereditary angioedema (HAE) pathogenesis. A hypothesis about the PLAUR splicing pattern impact on HAE severity was tested.Methods and resultsThe RT-PCR quantified by capillary electrophoresis was used. Although no significant difference in alternative transcript frequency was observed between healthy volunteers and HAE patients, a significant increase in all cassette exon inclusion variants was revealed during monocyte-to-macrophage differentiation.ConclusionsPLAUR alternative splicing in monocytes and macrophages neither was different between HAE patients and healthy controls, nor reflected disease severity. However, the results showed an PLAUR splicing pattern was changing during monocyte-to-macrophage differentiation, but the significance of these changes is unknown and awaits future clarification.
Links
MUNI/A/1098/2022, interní kód MUName: Nespecifická imunita u chorob imunitního systému
Investor: Masaryk University, Non-specific immunity in immune system diseases
MUNI/A/1244/2021, interní kód MUName: Vrozená imunita a její abnormality v rozvoji imunopatologických stavů
Investor: Masaryk University
NU21-05-00438, research and development projectName: Úloha alternativních forem uPAR v rozvoji imunopatologických reakcí
Investor: Ministry of Health of the CR, Subprogram 1 - standard
NV18-05-00330, research and development projectName: Genetická determinace závažnosti otoků podmíněných bradykininem u pacientů s hereditárním angioedémem
Investor: Ministry of Health of the CR, Genetic determination of bradykinin-mediated angioedema severity in patients with hereditary angioedema
PrintDisplayed: 20/7/2024 02:19