Search Results - "Ballonova, Lucie"

Myeloid lineage cells evince distinct steady-state level of certain gene groups in dependence on hereditary angioedema severity by Ballonová, Lucie, Souček, Přemysl, Slanina, Peter, Réblová, Kamila, Zapletal, Ondřej, Vlková, Marcela, Hakl, Roman, Bíly, Viktor, Grombiříková, Hana, Svobodová, Eliška, Kulíšková, Petra, Štíchová, Julie, Sobotková, Marta, Zachová, Radana, Hanzlíková, Jana, Vachová, Martina, Králíčková, Pavlína, Krčmová, Irena, Jeseňák, Miloš, Freiberger, Tomáš

“…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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PLAUR splicing pattern in hereditary angioedema patients’ monocytes and macrophages by Ballonová, Lucie, Kulíšková, Petra, Slanina, Peter, Štíchová, Julie, Vlková, Marcela, Hakl, Roman, Litzman, Jiří, Souček, Přemysl, Freiberger, Tomáš

“…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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Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort by Grombirikova, Hana, Bily, Viktor, Soucek, Premysl, Kramarek, Michal, Hakl, Roman, Ballonova, Lucie, Ravcukova, Barbora, Ricna, Dita, Kozena, Karolina, Kratochvilova, Lucie, Sobotkova, Marta, Zachova, Radana, Kuklinek, Pavel, Kralickova, Pavlina, Krcmova, Irena, Hanzlikova, Jana, Vachova, Martina, Krystufkova, Olga, Dankova, Eva, Jesenak, Milos, Novackova, Martina, Svoboda, Michal, Litzman, Jiri, Freiberger, Tomas

“…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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