PLAUR splicing pattern in hereditary angioedema patients'
monocytes and macrophages

J 2023

PLAUR splicing pattern in hereditary angioedema patients' monocytes and macrophages

BALLONOVÁ, Lucie; Petra KULÍŠKOVÁ; Peter SLANINA; Julie ŠTÍCHOVÁ; Marcela VLKOVÁ et. al.

Základní údaje

Originální název

PLAUR splicing pattern in hereditary angioedema patients' monocytes and macrophages

Autoři

BALLONOVÁ, Lucie; Petra KULÍŠKOVÁ; Peter SLANINA; Julie ŠTÍCHOVÁ; Marcela VLKOVÁ; Roman HAKL; Jiří LITZMAN; Přemysl SOUČEK a Tomáš FREIBERGER

Vydání

Molecular Biology Reports, DORDRECHT, Springer, 2023, 0301-4851

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30101 Human genetics

Stát vydavatele

Nizozemské království

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 2.600

Kód RIV

RIV/00216224:14110/23:00131130

Organizační jednotka

Lékařská fakulta

DOI

https://doi.org/10.1007/s11033-023-08391-8

UT WoS

000976266200003

EID Scopus

2-s2.0-85153281124

Klíčová slova anglicky

PLAUR; uPAR; HAE; Differentiation; Monocyte; Macrophages

Štítky

14110114, 14314010, podil, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 23. 2. 2024 12:38, Mgr. Tereza Miškechová

Anotace

V originále

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.

Návaznosti

MUNI/A/1098/2022, interní kód MU

Název: Nespecifická imunita u chorob imunitního systému

Investor: Masarykova univerzita, Nespecifická imunita u chorob imunitního systému

MUNI/A/1244/2021, interní kód MU

Název: Vrozená imunita a její abnormality v rozvoji imunopatologických stavů

Investor: Masarykova univerzita, Vrozená imunita a její abnormality v rozvoji imunopatologických stavů

NU21-05-00438, projekt VaV

Název: Úloha alternativních forem uPAR v rozvoji imunopatologických reakcí

Investor: Ministerstvo zdravotnictví ČR, Úloha alternativních forem uPAR v rozvoji imunopatologických reakcí, Podprogram 1 - standardní

NV18-05-00330, projekt VaV

Název: Genetická determinace závažnosti otoků podmíněných bradykininem u pacientů s hereditárním angioedémem

Investor: Ministerstvo zdravotnictví ČR, Genetická determinace závažnosti otoků podmíněných bradykininem u pacientů s hereditárním angioedémem

Citovat

BALLONOVÁ, Lucie; Petra KULÍŠKOVÁ; Peter SLANINA; Julie ŠTÍCHOVÁ; Marcela VLKOVÁ; Roman HAKL; Jiří LITZMAN; Přemysl SOUČEK a Tomáš FREIBERGER. PLAUR splicing pattern in hereditary angioedema patients' monocytes and macrophages. Molecular Biology Reports. DORDRECHT: Springer, 2023, roč. 50, č. 6, s. 4975-4982. ISSN 0301-4851. Dostupné z: https://doi.org/10.1007/s11033-023-08391-8.

@article{2295031,
   author = {Ballonová, Lucie and Kulíšková, Petra and Slanina, Peter and Štíchová, Julie and Vlková, Marcela and Hakl, Roman and Litzman, Jiří and Souček, Přemysl and Freiberger, Tomáš},
   article_location = {DORDRECHT},
   article_number = {6},
   doi = {https://doi.org/10.1007/s11033-023-08391-8},
   keywords = {PLAUR; uPAR; HAE; Differentiation; Monocyte; Macrophages},
   language = {eng},
   issn = {0301-4851},
   journal = {Molecular Biology Reports},
   title = {PLAUR splicing pattern in hereditary angioedema patients' monocytes and macrophages},
   url = {https://link.springer.com/article/10.1007/s11033-023-08391-8},
   volume = {50},
   year = {2023}
}

TY  - JOUR
ID  - 2295031
AU  - Ballonová, Lucie - Kulíšková, Petra - Slanina, Peter - Štíchová, Julie - Vlková, Marcela - Hakl, Roman - Litzman, Jiří - Souček, Přemysl - Freiberger, Tomáš
PY  - 2023
TI  - PLAUR splicing pattern in hereditary angioedema patients' monocytes and macrophages
JF  - Molecular Biology Reports
VL  - 50
IS  - 6
SP  - 4975-4982
EP  - 4975-4982
PB  - Springer
SN  - 03014851
KW  - PLAUR
KW  - uPAR
KW  - HAE
KW  - Differentiation
KW  - Monocyte
KW  - Macrophages
UR  - https://link.springer.com/article/10.1007/s11033-023-08391-8
N2  - 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.
ER  -

BALLONOVÁ, Lucie; Petra KULÍŠKOVÁ; Peter SLANINA; Julie ŠTÍCHOVÁ; Marcela VLKOVÁ; Roman HAKL; Jiří LITZMAN; Přemysl SOUČEK a Tomáš FREIBERGER. PLAUR splicing pattern in hereditary angioedema patients' monocytes and macrophages. \textit{Molecular Biology Reports}. DORDRECHT: Springer, 2023, roč.~50, č.~6, s.~4975-4982. ISSN~0301-4851. Dostupné z: https://doi.org/10.1007/s11033-023-08391-8.

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