Search Results - "Ballonová, Lucie"
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PLAUR splicing pattern in hereditary angioedema patients’ monocytes and macrophages
Published in Molecular biology reports (01-06-2023)“…Background The PLAUR gene encodes the urokinase-like plasminogen activator receptor (uPAR) and may undergo alternative splicing. Excluding cassette exons 3, 5…”
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Myeloid lineage cells evince distinct steady-state level of certain gene groups in dependence on hereditary angioedema severity
Published in Frontiers in genetics (04-07-2023)“…Hereditary angioedema (HAE) is a rare genetic disorder with variable expressivity even in carriers of the same underlying genetic defect, suggesting other…”
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Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort
Published in Journal of clinical immunology (01-11-2023)“…Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) is a rare and life-threatening condition characterized by recurrent localized edema. We…”
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Journal Article