PLAUR splicing pattern in hereditary angioedema patients' monocytes and macrophages

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F23%3A00131130" target="_blank" >RIV/00216224:14110/23:00131130 - isvavai.cz</a>

Result on the web

<a href="https://link.springer.com/article/10.1007/s11033-023-08391-8" target="_blank" >https://link.springer.com/article/10.1007/s11033-023-08391-8</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1007/s11033-023-08391-8" target="_blank" >10.1007/s11033-023-08391-8</a>

Result language

angličtina

Original language name

PLAUR splicing pattern in hereditary angioedema patients' monocytes and macrophages

Original language description

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.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

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OECD FORD branch

30101 - Human genetics

Project

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2023

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Molecular Biology Reports

ISSN

0301-4851

e-ISSN

1573-4978

Volume of the periodical

50

Issue of the periodical within the volume

6

Country of publishing house

NL - THE KINGDOM OF THE NETHERLANDS

Number of pages

8

Pages from-to

4975-4982

UT code for WoS article

000976266200003

EID of the result in the Scopus database

2-s2.0-85153281124