Masaryk University

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    2024

    1. B cell subsets reconstitution and immunoglobulin levels in children and adolescents with B non-Hodgkin lymphoma after treatment with single anti CD20 agent dose included in chemotherapeutic protocols: single center and review of the literature
      HLAVÁČKOVÁ, Eva, Zdenka KŘENOVÁ, Arpád KEREKES, Peter SLANINA and Marcela VLKOVÁ. B cell subsets reconstitution and immunoglobulin levels in children and adolescents with B non-Hodgkin lymphoma after treatment with single anti CD20 agent dose included in chemotherapeutic protocols: single center and review of the literature. Biomedical Papers, Olomouc: Palacky University. Olomouc: Palacky University, 2024, vol. 168, No 2, p. 167-176. ISSN 1213-8118. Available from: https://dx.doi.org/10.5507/bp.2023.021.
      More: https://is.muni.cz/publication/2291628/en
    2. Complex analysis of the national Hereditary angioedema cohort in Slovakia - Identification of 12 novel variants in SERPING1 gene
      MARKOCSY, Adam, Katarina HRUBISKOVA, Martin HRUBISKO, Tomáš FREIBERGER, Hana GROMBIŘÍKOVÁ, Lenka DOLESOVA, Ludmila Slivka VAVROVA, Regina Lohajova BEHULOVA, Martina ONDRUSOVA, Peter BANOVCIN, Karolina VORCAKOVA and Milos JESENAK. Complex analysis of the national Hereditary angioedema cohort in Slovakia - Identification of 12 novel variants in SERPING1 gene. WORLD ALLERGY ORGANIZATION JOURNAL. AMSTERDAM: ELSEVIER, 2024, vol. 17, No 3, p. 1-13. ISSN 1939-4551. Available from: https://dx.doi.org/10.1016/j.waojou.2024.100885.
      More: https://is.muni.cz/publication/2407999/en
    3. Detecting familial hypercholesterolemia: An observational study leveraging mandatory universal pediatric total cholesterol screening in Slovakia
      RASLOVA, Katarina, Viera DONICOVA, Katarina GONOVA, Alexander KLABNIK, Lukáš TICHÝ, Ian BRIDGES, Dagmar BUCKOVA, Marie ZACHLEDEROVA, Tomáš FREIBERGER and Branislav VOHNOUT. Detecting familial hypercholesterolemia: An observational study leveraging mandatory universal pediatric total cholesterol screening in Slovakia. Journal of Clinical Lipidology. New York: ELSEVIER SCIENCE INC, 2024, vol. 18, No 4, p. "e537"-"e547", 11 pp. ISSN 1933-2874. Available from: https://dx.doi.org/10.1016/j.jacl.2024.03.009.
      More: https://is.muni.cz/publication/2431917/en
    4. Evaluation of respiratory allergies burden and management in primary care and comparative analysis of health care data from Romania, Poland, Czech Republic and Bulgaria - preliminary study
      LERU, Polliana Mihaela, Vlad Florin ANTON, Zita CHOVANCOVA, Jan BAROŠ, Konrad SOCHA, Valentina PETKOVA and Marcin KUROWSKI. Evaluation of respiratory allergies burden and management in primary care and comparative analysis of health care data from Romania, Poland, Czech Republic and Bulgaria - preliminary study. ROMANIAN JOURNAL OF INTERNAL MEDICINE. WARSAW: SCIENDO, 2024, 27 pp. ISSN 1582-3296. Available from: https://dx.doi.org/10.2478/rjim-2024-0018.
      More: https://is.muni.cz/publication/2409557/en
    5. Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study
      DHARMAYAT, Kanika Inamdar, Antonio J VALLEJO-VAZ, Christophe A T STEVENS, Julia M BRANDTS, Alexander R M LYONS, Urh GROSELJ, Marianne ABIFADEL, Carlos A AGUILAR-SALINAS, Khalid ALHABIB, Mutaz ALKHNIFSAWI, Wael ALMAHMEED, Fahad ALNOURI, Rodrigo ALONSO, Khalid AL-RASADI, Tester F ASHAVAID, Maciej BANACH, Sophie BELIARD, Christoph BINDER, Mafalda BOURBON, Krzysztof CHLEBUS, Pablo CORRAL, Diogo CRUZ, Olivier S DESCAMPS, Euridiki DROGARI, Ronen DURST, Marat V EZHOV, Jacques GENEST, Mariko HARADA-SHIBA, Kirsten B HOLVEN, Steve E HUMPHRIES, Weerapan KHOVIDHUNKIT, Katarina LALIC, Ulrich LAUFS, Evangelos LIBEROPOULOS, Jeanine Roeters van LENNEP, Marcos Miguel LIMA-MARTINEZ, Jie LIN, Vincent MAHER, Winfried MAERZ, Andre R MISEREZ, Olena MITCHENKO, Hapizah NAWAWI, Andrie G PANAYIOTOU, Gyoergy PARAGH, Arman POSTADZHIYAN, Ashraf REDA, Zeljko REINER, Ximena REYES, Fouzia SADIQ, Amirhossein SAHEBKAR, Heribert SCHUNKERT, Aleksandr B SHEK, Eric STROES, Ta-Chen SU, Tavintharan SUBRAMANIAM, Andrey SUSEKOV, Alejandra Vazquez CARDENAS, Thanh Huong TRUONG, Alexandros TSELEPIS, Branislav VOHNOUT, Luya WANG, Shizuya YAMASHITA, Ahmad AL-SARRAF, Nasreen AL-SAYED, Kairat DAVLETOV, Bambang DWIPUTRA, Dan GAITA, Meral KAYIKCIOGLU, Gustavs LATKOVSKIS, A David MARAIS, Anne Thushara MATTHIAS, Erkin MIRRAKHIMOV, Borge G NORDESTGAARD, Zaneta PETRULIONIENE, Belma POJSKIC, Wilson SADOH, Myra TILNEY, Brian TOMLINSON, Anne TYBJAERG-HANSEN, Margus VIIGIMAA, Alberico L CATAPANO, Tomáš FREIBERGER, G Kees HOVINGH, Pedro MATA, Handrean SORAN, Frederick RAAL, Gerald F WATTS, Laura SCHREIER, Virginia BANARES, Susanne GREBER-PLATZER, Margot BAUMGARTNER-KAUT, de Gier CHARLOTTE, Hans DIEPLINGER, Florian HOELLERL, Reinhold INNERHOFER, Daniela KARALL, Julia LISCHKA, Bernhard LUDVIK, Martin MAESER, Sabine SCHOLL-BUERGI, Alexandra THAJER, Hermann TOPLAK, Fabian DEMEURE, Ann MERTENS, Jean-Luc BALLIGAND, Xavier STEPHENNE, Etienne SOKAL, Ivo PETROV, Assen GOUDEV, Fedya NIKOLOV, Snejana TISHEVA, Yoto YOTOV, Ivajlo TZVETKOV, Robert A HEGELE, Daniel GAUDET, Liam BRUNHAM, Isabelle RUEL, Brian MCCRINDLE, Ada CUEVAS, Drazen PERICA, Phivos SYMEONIDES, Efstratios TROGKANIS, Andreas KOSTIS, Andreas IOANNOU, Angeliki MOUZAROU, Anthoula GEORGIOU, Andreas STYLIANOU, George MILTIADOUS, Paris IACOVIDES, Constantinos DELTAS, Michal VRABLIK, Zuzana URBANOVA, Pavel JESINA, Lukas TICHY, Josef HYANEK, Jana DVORAKOVA, Jana CEPOVA, Josef SYKORA, Kristyna BURESOVA, Michal PIPEK, Eva PISTKOVA, Ivana BARTKOVA, Astrid S ULAKOVA, Lenka TOUKALKOVA, Michaela SPENEROVA, Jan MALY, Marianne BENN, Ahmed BENDARY, Atef ELBAHRY, Jean FERRIERES, Dorota FERRIERES, Noel PERETTI, Eric BRUCKERT, Antonio GALLO, Rene VALERO, Florian MOURRE, Karine AOUCHICHE, Rachel REYNAUD, Patrick TOUNIAN, Julie LEMALE, Franck BOCCARA, Philippe MOULIN, Sybil CHARRIERES, Di Filippo MATHILDE, Bertrand CARIOU, Francois PAILLARD, Caroline DOURMAP, Alain PRADIGNAC, Bruno VERGES, Isabelle SIMONEAU, Michel FARNIER, Yves COTTIN, Cecile YELNIK, Regis HANKARD, Francois SCHIELE, Vincent DURLACH, Ariane SULTAN, Alain CARRIE, Jean-Pierre RABES, Veronika SANIN, Roland SCHMIEDER, Sara ATES, Christos V RIZOS, Ioannis SKOUMAS, Konstantinos TZIOMALOS, Loukianos RALLIDIS, Vasileios KOTSIS, Michalis DOUMAS, Emmanouil SKALIDIS, Genovefa KOLOVOU, Vana KOLOVOU, Anastasia GAROUFI, Iosif KOUTAGIAR, Georgios POLYCHRONOPOULOS, Estela KIOURI, Christina ANTZA, Evangelos ZACHARIS, Achilleas ATTILAKOS, George SFIKAS, Charalambos KOUMARAS, Panagiotis ANAGNOSTIS, Georgia ANASTASIOU and George LIAMIS. Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study. Lancet. NEW YORK: ELSEVIER SCIENCE INC, 2024, vol. 403, No 10421, p. 55-66. ISSN 0140-6736. Available from: https://dx.doi.org/10.1016/S0140-6736(23)01842-1.
      More: https://is.muni.cz/publication/2438517/en
    6. Genetic risk score in patients with the APOE2/E2 genotype as a predictor of familial dysbetalipoproteinemia
      SATNY, Martin, Veronika TODOROVOVA, Tereza ALTSCHMIEDOVA, Jaroslav A HUBACEK, Lucie DLOUHA, Vera LANSKA, Vladimír SOŠKA, Ondřej KYSELÁK, Tomáš FREIBERGER, Martin BOBÁK and Michal VRABLIK. Genetic risk score in patients with the APOE2/E2 genotype as a predictor of familial dysbetalipoproteinemia. Journal of Clinical Lipidology. NEW YORK: ELSEVIER SCIENCE INC, 2024, vol. 18, No 2, p. "e230"-"e237", 8 pp. ISSN 1933-2874. Available from: https://dx.doi.org/10.1016/j.jacl.2023.11.010.
      More: https://is.muni.cz/publication/2374298/en
    7. LDLR gene rearrangements in Czech FH patients likely arise from one mutational event
      KONEČNÁ, Kateřina, Petra ZAPLETALOVA, Tomáš FREIBERGER and Lukáš TICHÝ. LDLR gene rearrangements in Czech FH patients likely arise from one mutational event. LIPIDS IN HEALTH AND DISEASE. LONDON: BMC, 2024, vol. 23, No 1, p. 1-11. ISSN 1476-511X. Available from: https://dx.doi.org/10.1186/s12944-024-02013-3.
      More: https://is.muni.cz/publication/2374288/en
    8. Low CD46 expression on activated CD4+ T cells predict improved Th1 cell reactivity to calcitriol in majority of patients with allergic eosinophilic asthma and healthy donors
      ŠTÍCHOVÁ, Julie, Peter SLANINA, Zita CHOVANCOVÁ, Jan BAROŠ, Marek LITZMAN, Jiří LITZMAN and Marcela VLKOVÁ. Low CD46 expression on activated CD4+ T cells predict improved Th1 cell reactivity to calcitriol in majority of patients with allergic eosinophilic asthma and healthy donors. Frontiers in Allergy. Lausanne: Frontiers, 2024, 1-5, No 5, p. 1-18. ISSN 2673-6101. Available from: https://dx.doi.org/10.3389/falgy.2024.1462579.
      More: https://is.muni.cz/publication/2436477/en
    9. Personalized dendritic cell vaccine in multimodal individualized combination therapy improves survival in high-risk pediatric cancer patients
      KÝR, Michal, Peter MÚDRY, Kristýna POLÁŠKOVÁ, Lenka ZDRAŽILOVÁ DUBSKÁ, Regina DEMLOVÁ, Jana KUBÁTOVÁ, Eva HLAVÁČKOVÁ, Kateřina ČERNÁ PILÁTOVÁ, Pavel MAZANEK, Klára VEJMĚLKOVÁ, Vítězslav DUŠEK, Pavel TINKA, Martin BALÁŽ, Tomáš MERTA, Zuzana KUTTNEROVÁ, Terézia TUREKOVÁ, Zdeněk PAVELKA, Petra POKORNÁ, Hana PÁLOVÁ, Marie MLNAŘÍKOVÁ, Marta JEŽOVÁ, Renata KELLNEROVÁ, Sarka KOZAKOVA, Ondřej SLABÝ, Dalibor VALÍK and Jaroslav ŠTĚRBA. Personalized dendritic cell vaccine in multimodal individualized combination therapy improves survival in high-risk pediatric cancer patients. International journal of cancer. HOBOKEN: WILEY, 2024, 12 pp. ISSN 0020-7136. Available from: https://dx.doi.org/10.1002/ijc.35062.
      More: https://is.muni.cz/publication/2418115/en
    10. Phenotype and oxidative burst of low-density neutrophil subpopulations are altered in common variable immunodeficiency patients
      SLANINA, Peter, Julie ŠTÍCHOVÁ, Veronika BOSÁKOVÁ, Iva STANICZKOVÁ ZAMBO, Marcela HORTOVÁ KOHOUTKOVÁ, Petra LÁZNIČKOVÁ, Zita CHOVANCOVÁ, Jiří LITZMAN, Terezie STEJSKALOVÁ, Jan FRIČ and Marcela VLKOVÁ. Phenotype and oxidative burst of low-density neutrophil subpopulations are altered in common variable immunodeficiency patients. CYTOMETRY PART B-CLINICAL CYTOMETRY. UNITED STATES: WILEY, 2024, vol. 106, No 2, p. 99-112. ISSN 1552-4949. Available from: https://dx.doi.org/10.1002/cyto.b.22150.
      More: https://is.muni.cz/publication/2358802/en
    11. Splicing analysis of STAT3 tandem donor suggests non-canonical binding registers for U1 and U6 snRNAs
      KRAMÁREK, Michal, Přemysl SOUČEK, Kamila RÉBLOVÁ, Lucie KAJAN GRODECKA and Tomáš FREIBERGER. Splicing analysis of STAT3 tandem donor suggests non-canonical binding registers for U1 and U6 snRNAs. Nucleic acids research. Oxford: Oxford University Press, 2024, vol. 52, No 10, p. 5959-5974. ISSN 0305-1048. Available from: https://dx.doi.org/10.1093/nar/gkae147.
      More: https://is.muni.cz/publication/2407804/en
    12. Tailored antisense oligonucleotides designed to correct aberrant splicing reveal actionable groups of mutations for rare genetic disorders
      WAI, Htoo A, Eliška SVOBODOVÁ, Natalia Romero HERRERA, Andrew G L DOUGLAS, John W HOLLOWAY, Francisco E BARALLE, Marco BARALLE and Diana BARALLE. Tailored antisense oligonucleotides designed to correct aberrant splicing reveal actionable groups of mutations for rare genetic disorders. EXPERIMENTAL AND MOLECULAR MEDICINE. LONDON: SPRINGERNATURE, 2024, 10 pp. ISSN 1226-3613. Available from: https://dx.doi.org/10.1038/s12276-024-01292-1.
      More: https://is.muni.cz/publication/2430477/en
    13. The Chronic Angioedema Registry (CARE): Rationale, Methods and Implementation
      BUTTGEREIT, T, F AULENBACHER, A GUTSCHE, P KOLKHIR, K WELLER, Vera Ayala C, M MAGERL, H FARKAS, A S GRUMACH, E AYGOEREN-PUERSUEN, N BARA, M BEN-SHOSHAN, J BERNSTEIN, S BETSCHEL, L BOUILLET, T CABALLERO, M CANCIAN, A J CASTALDO, S CIMBOLLEK, D M COHN, T CRAIG, D FOMINA, A GELINCIK, V GRIVCHEVA-PANOVSKA, A JINDAL, C KATELARIS, A KESSEL, T KINACIYAN, H J LONGHURST, I MARTINEZ-SAGUER, M RIEDL, C SCHOEFFL, P STAUBACH, A ZANICHELLI, Y ZHI, Balle Boysen H, J S FOK, P H LI, Roman HAKL, M HIDE, J PETER and M MAURER. The Chronic Angioedema Registry (CARE): Rationale, Methods and Implementation. CLINICAL AND EXPERIMENTAL ALLERGY. Hoboken: WILEY, 2024, 5 pp. ISSN 0954-7894. Available from: https://dx.doi.org/10.1111/cea.14527.
      More: https://is.muni.cz/publication/2417976/en
    14. Timing of Onset of Garadacimab for Preventing Hereditary Angioedema Attacks
      STAUBACH, Petra, Raffi TACHDJIAN, H. Henry LI, Roman HAKL, Emel AYGÖREN-PÜRSÜN, Lolis WIEMAN, Lawo JOHN-PHILIP and Timothy J. CRAIG. Timing of Onset of Garadacimab for Preventing Hereditary Angioedema Attacks. Clinical & Experimental Allergy. Hoboken: Wiley, 2024. ISSN 0954-7894. Available from: https://dx.doi.org/10.1111/cea.14568.
      More: https://is.muni.cz/publication/2439817/en

    2023

    1. An investigational oral plasma kallikrein inhibitor for on-demand treatment of hereditary angioedema: atwo-part, randomised, double-blind, placebo-controlled, crossover phase 2 trial
      AYGOEREN-PUERSUEN, Emel, Andrea ZANICHELLI, Danny M COHN, Mauro CANCIAN, Roman HAKL, Tamar KINACIYAN, Markus MAGERL, Inmaculada MARTINEZ-SAGUER, Marcin STOBIECKI, Henriette FARKAS, Sorena KIANI-ALIKHAN, Vesna GRIVCHEVA-PANOVSKA, Jonathan A BERNSTEIN, H Henry LI, Hilary J LONGHURST, Paul K AUDHYA, Michael SMITH, Christopher M YEA, Andreas MAETZEL, Daniel K LEE, Edward P FEENER, Richard GOWER, William R LUMRY, Aleena BANERJI, Marc A RIEDL and Marcus MAURER. An investigational oral plasma kallikrein inhibitor for on-demand treatment of hereditary angioedema: atwo-part, randomised, double-blind, placebo-controlled, crossover phase 2 trial. Lancet. New York: Elsevier Science Inc., 2023, vol. 401, No 10375, p. 458-469. ISSN 0140-6736. Available from: https://dx.doi.org/10.1016/S0140-6736(22)02406-0.
      More: https://is.muni.cz/publication/2279451/en
    2. Autoantibodies against type I IFNs in humans with alternative NF-.B pathway deficiency
      TOM, Le Voyer, Audrey V PARENT, Xian LIU, Axel CEDERHOLM, Adrian GERVAIS, Jeremie ROSAIN, Tina NGUYEN, Malena Perez LORENZO, Elze RACKAITYTE, Darawan RINCHAI, Peng ZHANG, Lucy BIZIEN, Gonca HANCIOGLU, Pascale GHILLANI-DALBIN, Jean-Luc CHARUEL, Quentin PHILIPPOT, Mame Sokhna GUEYE, Majistor Raj Luxman Maglorius RENKILARAJ, Masato OGISHI, Camille SOUDEE, Melanie MIGAUD, Flore ROZENBERG, Mana MOMENILANDI, Quentin RILLER, Luisa IMBERTI, Ottavia M DELMONTE, Gabriele MUELLER, Baerbel KELLER, Julio ORREGO, William Alexander Franco GALLEGO, Tamar RUBIN, Melike EMIROGLU, Nima PARVANEH, Daniel ERIKSSON, Maribel ARANDA-GUILLEN, David I BERRIOS, Linda VONG, Constance H KATELARIS, Peter MUSTILLO, Johannes RAEDLER, Jonathan BOHLEN, Jale Bengi CELIK, Camila ASTUDILLO, Sarah WINTER, Catriona MCLEAN, Aurelien GUFFROY, Joseph L DERISI, David YU, Corey MILLER, Yi FENG, Audrey GUICHARD, Vivien BEZIAT, Jacinta BUSTAMANTE, Qiang PAN-HAMMARSTROM, Yu ZHANG, Lindsey B ROSEN, Steve M HOLLAND, Marita BOSTICARDO, Heather KENNEY, Riccardo CASTAGNOLI, Charlotte A SLADE, Kaan BOZTUG, Nizar MAHLAOUI, Sylvain LATOUR, Roshini S ABRAHAM, Vassilios LOUGARIS, Fabian HAUCK, Anna SEDIVA, Faranaz ATSCHEKZEI, Georgios SOGKAS, M Cecilia POLI, Mary A SLATTER, Boaz PALTERER, Michael D KELLER, Alberto PINZON-CHARRY, Anna SULLIVAN, Luke DRONEY, Daniel SUAN, Melanie WONG, Alisa KANE, Hannah HU, Cindy MA, Hana GROMBIŘÍKOVÁ, Peter CIZNAR, Ilan DALAL, Nathalie ALADJIDI, Miguel HIE, Estibaliz LAZARO, Jose FRANCO, Sevgi KELES, Marion MALPHETTES, Marlene PASQUET, Maria Elena MACCARI, Andrea MEINHARDT, Aydan IKINCIOGULLARI, Mohammad SHAHROOEI, Fatih CELMELI, Patrick FROSK, Christopher C GOODNOW, Paul E GRAY, Alexandre BELOT, Hye Sun KUEHN, Sergio D ROSENZWEIG, Makoto MIYARA, Francesco LICCIARDI, Amelie SERVETTAZ, Vincent BARLOGIS, Le Guenno GUILLAUME, Vera-Maria HERRMANN, Taco KUIJPERS, Gregoire DUCOUX, Francoise SARROT-REYNAULD, Catharina SCHUETZ, Charlotte CUNNINGHAM-RUNDLES, Frederic RIEUX-LAUCAT, Stuart G TANGYE, Cristina SOBACCHI, Rainer DOFFINGER, Klaus WARNATZ, Bodo GRIMBACHER, Claire FIESCHI, Laureline BERTELOOT, Vanessa L BRYANT, Sophie Trouillet ASSANT, Helen SU, Benedicte NEVEN, Laurent ABEL, Qian ZHANG, Bertrand BOISSON, Aurelie COBAT, Emmanuelle JOUANGUY, Olle KAMPE, Paul BASTARD, Chaim M ROIFMAN, Nils LANDEGREN, Luigi D NOTARANGELO, Mark S ANDERSON, Jean-Laurent CASANOVA and Anne PUEL. Autoantibodies against type I IFNs in humans with alternative NF-.B pathway deficiency. Nature. BERLIN: NATURE PORTFOLIO, 2023, vol. 623, No 7988, p. 803-813. ISSN 0028-0836. Available from: https://dx.doi.org/10.1038/s41586-023-06717-x.
      More: https://is.muni.cz/publication/2385397/en
    3. Epidemiological Changes and Improvement in Outcomes of Infective Endocarditis in Europe in the Twenty-First Century: An International Collaboration on Endocarditis (ICE) Prospective Cohort Study (2000-2012)
      AMBROSIONI, Juan, Marta HERNANDEZ-MENESES, Emanuele DURANTE-MANGONI, Pierre TATTEVIN, Lars OLAISON, Tomáš FREIBERGER, John HURLEY, Margaret M HANNAN, Vivian CHU, Bruno HOEN, Asuncion MORENO, Guillermo CUERVO, Jaume LLOPIS and Jose M MIRO. Epidemiological Changes and Improvement in Outcomes of Infective Endocarditis in Europe in the Twenty-First Century: An International Collaboration on Endocarditis (ICE) Prospective Cohort Study (2000-2012). INFECTIOUS DISEASES AND THERAPY. London: SPRINGER LONDON LTD, 2023, vol. 12, No 4, p. 1083-1101. ISSN 2193-8229. Available from: https://dx.doi.org/10.1007/s40121-023-00763-8.
      More: https://is.muni.cz/publication/2379798/en
    4. Gene polymorphisms and serum levels of mannose-binding lectin in Czech patients with recurrent aphthous stomatitis: A case-control study
      IZAKOVIČOVÁ, Pavla, Simona SLEZÁKOVÁ, Zuzana ZAKOSTELSKA JIRASKOVA, Jana ŠÍSTKOVÁ, Natálie MLČŮCHOVÁ, Jirina BARTOVA, Jitka PETANOVA, Pavel KUKLÍNEK, Antonín FASSMANN, Ladislav DUŠEK, Lydie IZAKOVIČOVÁ HOLLÁ and Petra BOŘILOVÁ LINHARTOVÁ. Gene polymorphisms and serum levels of mannose-binding lectin in Czech patients with recurrent aphthous stomatitis: A case-control study. JOURNAL OF ORAL PATHOLOGY & MEDICINE. HOBOKEN: WILEY, 2023, vol. 52, No 1, p. 81-90. ISSN 0904-2512. Available from: https://dx.doi.org/10.1111/jop.13385.
      More: https://is.muni.cz/publication/2247014/en
    5. Genetické vyšetření v kardiologii:Souhrnné vyjádření a doporučení odborníků Pracovní skupiny kardiogenetiky při ČAPK/ČKS , SLG a ČSSL a ST při ČLS JEP (Czech Association for Preventive Cardiology Expert Consensus Statement on the State of Genetic Testing for Inherited Cardiovascular Diseases)
      KREBSOVÁ, Alice, Eva KUTÍLKOVÁ, Veronika ZOUBKOVÁ, Terezia TAVAČOVÁ, Petra PELDOVÁ, Lenka PIHEROVÁ, Pavel VOTÝPKA, Štěpánka POHLOVÁ KUČEROVÁ, Ilga GROCHOVÁ, Andrea GŘEGOŘOVÁ, Daniela ŽÁKOVÁ, Tomáš FREIBERGER, Jan JANOUŠEK, Tomáš NOVOTNÝ and Milan MACEK. Genetické vyšetření v kardiologii:Souhrnné vyjádření a doporučení odborníků Pracovní skupiny kardiogenetiky při ČAPK/ČKS , SLG a ČSSL a ST při ČLS JEP (Czech Association for Preventive Cardiology Expert Consensus Statement on the State of Genetic Testing for Inherited Cardiovascular Diseases). COR ET VASA. PRAGUE: CZECH SOC CARDIOLOGY & CZECH SOC CARDIOVASCULAR SURGERY, 2023, vol. 65, No 5, p. 798-805. ISSN 0010-8650. Available from: https://dx.doi.org/10.33678/cor.2023.057.
      More: https://is.muni.cz/publication/2348687/en
    6. Hepcidin and ferritin levels as markers of immune cell activation during septic shock, severe COVID-19 and sterile inflammation
      HORTOVÁ KOHOUTKOVÁ, Marcela, Monika SKOTÁKOVÁ, Isaac G. ONYANGO, Miriam SLEZÁKOVÁ, Roman PANOVSKÝ, Lukáš OPATŘIL, Peter SLANINA, Marco DE ZUANI, Ondřej MRKVA, Ivana ANDREJČINOVÁ, Petra LÁZNIČKOVÁ, Martina DVONČOVÁ, Alexandra MÝTNIKOVÁ, Vaughn OSTLAND, Michal ŠITINA, Gorazd B. STOKIN, Vladimír ŠRÁMEK, Marcela VLKOVÁ, Martin HELÁN and Jan FRIČ. Hepcidin and ferritin levels as markers of immune cell activation during septic shock, severe COVID-19 and sterile inflammation. FRONTIERS IN IMMUNOLOGY. SWITZERLAND: FRONTIERS MEDIA SA, 2023, vol. 14, January 2023, p. 1-10. ISSN 1664-3224. Available from: https://dx.doi.org/10.3389/fimmu.2023.1110540.
      More: https://is.muni.cz/publication/2251738/en
    7. How to recognize inborn errors of immunity in a child presenting with a malignancy: guidelines for the pediatric hemato-oncologist
      WERFF, ten Bosch Jutte van der, Eva HLAVÁČKOVÁ, Charlotte DERPOORTER, Ute FISCHER, Francesco SAETTINI, Sujal GHOSH, Roula FARAH, Delfien BOGAERT, Rabea WAGENER, Jan LOEFFEN, Chris M BACON and Simon BOMKEN. How to recognize inborn errors of immunity in a child presenting with a malignancy: guidelines for the pediatric hemato-oncologist. Pediatric Hematology and Oncology. Philadelphia: Taylor & Francis, 2023, vol. 40, No 2, p. 131-146. ISSN 0888-0018. Available from: https://dx.doi.org/10.1080/08880018.2022.2085830.
      More: https://is.muni.cz/publication/2251353/en
    8. Intraoral and maxillofacial abnormalities in patients with autosomal dominant hyper-IgE syndrome
      TAR, Ildiko, Marta SZEGEDI, Ewa KRASUSKA-SLAWINSKA, Edyta HEROPOLITANSKA-PLISZKA, Ewa a BERNATOWSKA, Elif ONCU, Sevgi KELES, Sukru n GUNER, Ismail REISLI, Nevena GESHEVA, Elissaveta NAUMOVA, Lydie IZAKOVIČOVÁ HOLLÁ, Jiří LITZMAN, Igor SAVCHAK, Larysa KOSTYUCHENKO and Melinda ERDOS. Intraoral and maxillofacial abnormalities in patients with autosomal dominant hyper-IgE syndrome. CENTRAL EUROPEAN JOURNAL OF IMMUNOLOGY. POZNAN: TERMEDIA PUBLISHING HOUSE LTD, 2023, vol. 48, No 3, p. 228-236. ISSN 1426-3912. Available from: https://dx.doi.org/10.5114/ceji.2023.130874.
      More: https://is.muni.cz/publication/2345960/en
    9. Myeloid lineage cells evince distinct steady-state level of certain gene groups in dependence on hereditary angioedema severity
      BALLONOVÁ, Lucie, Přemysl SOUČEK, Peter SLANINA, Kamila RÉBLOVÁ, Ondřej ZAPLETAL, Marcela VLKOVÁ, Roman HAKL, Viktor BÍLY, Hana GROMBIŘÍKOVÁ, Eliška SVOBODOVÁ, Petra KULÍŠKOVÁ, Julie ŠTÍCHOVÁ, Marta SOBOTKOVÁ, Zachová RADANA, Jana HANZLÍKOVÁ, Martina VACHOVÁ, Pavlína KRÁLÍČKOVÁ, Irena KRČMOVÁ, Miloš JESEŇÁK and Tomáš FREIBERGER. Myeloid lineage cells evince distinct steady-state level of certain gene groups in dependence on hereditary angioedema severity. FRONTIERS IN GENETICS. LAUSANNE: FRONTIERS MEDIA SA, 2023, vol. 14, July 2023, p. 1-15. ISSN 1664-8021. Available from: https://dx.doi.org/10.3389/fgene.2023.1123914.
      More: https://is.muni.cz/publication/2298959/en
    10. PLAUR splicing pattern in hereditary angioedema patients' monocytes and macrophages
      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.
      More: https://is.muni.cz/publication/2295031/en
    11. Quaternary Benzophenanthridine Alkaloids Act as Smac Mimetics and Overcome Resistance to Apoptosis
      KULÍŠKOVÁ, Petra, Lucie VAŠÁTKOVÁ and Iva SLANINOVÁ. Quaternary Benzophenanthridine Alkaloids Act as Smac Mimetics and Overcome Resistance to Apoptosis. International Journal of Molecular Sciences. BASEL: MDPI, 2023, vol. 24, No 20, p. 1-16. ISSN 1661-6596. Available from: https://dx.doi.org/10.3390/ijms242015405.
      More: https://is.muni.cz/publication/2346798/en
    12. Subcutaneous immunoglobulin 16.5% for the treatment of pediatric patients with primary antibody immunodeficiency
      GUPTA, Sudhir, Roger H. KOBAYASHI, Jiří LITZMAN, Laurel CHERWIN, Sonja HOELLER and Huub KREUWEL. Subcutaneous immunoglobulin 16.5% for the treatment of pediatric patients with primary antibody immunodeficiency. EXPERT REVIEW OF CLINICAL IMMUNOLOGY. UNITED STATES: TAYLOR & FRANCIS LTD, 2023, vol. 19, No 1, p. 7-17. ISSN 1744-666X. Available from: https://dx.doi.org/10.1080/1744666X.2023.2144836.
      More: https://is.muni.cz/publication/2249411/en
    13. Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort
      GROMBIŘÍKOVÁ, Hana, Viktor BÍLY, Přemysl SOUČEK, Michal KRAMÁREK, Roman HAKL, Lucie BALLONOVÁ, Barbora RAVCUKOVA, Dita RICNA, Karolína KOŽENÁ, Lucie KRATOCHVÍLOVÁ, Marta SOBOTKOVA, Radana ZACHOVA, Pavel KUKLÍNEK, Pavlina KRALICKOVA, Irena KRCMOVA, Jana HANZLIKOVA, Martina VACHOVA, Olga KRYSTUFKOVA, Eva DANKOVA, Milos JESENAK, Martina NOVACKOVA, Michal SVOBODA, Jiří LITZMAN and Tomáš FREIBERGER. Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort. Journal of Clinical Immunology. NEW YORK: SPRINGER, 2023, vol. 43, No 8, p. 1974-1991. ISSN 0271-9142. Available from: https://dx.doi.org/10.1007/s10875-023-01565-w.
      More: https://is.muni.cz/publication/2345961/en
    14. 2023 Update on European Atherosclerosis Society Consensus Statement on Homozygous Familial Hypercholesterolaemia: new treatments and clinical guidance
      CUCHEL, Marina, Frederick J RAAL, Robert A HEGELE, Khalid AL-RASADI, Marcello ARCA, Maurizio AVERNA, Eric BRUCKERT, Tomáš FREIBERGER, Daniel GAUDET, Mariko HARADA-SHIBA, Lisa C HUDGINS, Meral KAYIKCIOGLU, Luis MASANA, Klaus G PARHOFER, Jeanine E ROETERS VAN LENNEP, Raul D SANTOS, Erik S G STROES, Gerald F WATTS, Albert WIEGMAN, Jane K STOCK, Lale S TOKGOEZOGLU, Alberico L CATAPANO and Kausik K RAY. 2023 Update on European Atherosclerosis Society Consensus Statement on Homozygous Familial Hypercholesterolaemia: new treatments and clinical guidance. European heart journal. Oxford: Oxford University Press, 2023, vol. 44, No 25, p. 2277-2291. ISSN 0195-668X. Available from: https://dx.doi.org/10.1093/eurheartj/ehad197.
      More: https://is.muni.cz/publication/2311397/en

    2022

    1. Consensus Recommendations for the Clinical Management of Hematological Malignancies in Patients with DNA Double Stranded Break Disorders
      PASTORCZAK, Agata, Andishe ATTARBASCHI, Simon BOMKEN, Arndt BORKHARDT, van der Werff ten Bosch JUTTE, Sarah ELITZUR, Andrew R GENNERY, Eva HLAVÁČKOVÁ, Arpád KEREKES, Zdenka KŘENOVÁ, Wojciech MLYNARSKI, Tomasz SZCZEPANSKI, Tessa WASSENBERG and Jan LOEFFEN. Consensus Recommendations for the Clinical Management of Hematological Malignancies in Patients with DNA Double Stranded Break Disorders. Cancers. Basel: MDPI, 2022, vol. 14, No 8, p. 1-23. ISSN 2072-6694. Available from: https://dx.doi.org/10.3390/cancers14082000.
      More: https://is.muni.cz/publication/2250971/en
    2. Do common infections trigger disease-onset or -severity in CTLA-4 insufficiency?
      KRAUSZ, Máté, Noriko MITSUIKI, Valeria FALCONE, Johanna KOMP, Sara POSADAS-CANTERA, Lorenz HANNS-MARTIN, Jiří LITZMAN, Daniel WOLFF, Maria KANARIOU, Anita HEINKELE, Carsten SPECKMANN, Georg HÄCKER, Hartmut HENGEL, Laura GÁMEZ-DÍAZ and Bodo GRIMBACHER. Do common infections trigger disease-onset or -severity in CTLA-4 insufficiency? Frontiers in immunology. LAUSANNE: FRONTIERS MEDIA SA, 2022, vol. 13, November 2022, p. 1-10. ISSN 1664-3224. Available from: https://dx.doi.org/10.3389/fimmu.2022.1011646.
      More: https://is.muni.cz/publication/2235422/en
    3. Effect of immunosuppressive therapy in inflammatory cardiomyopathy: data from The Czech Inflammatory Cardiomyopathy Immunosuppressive Trial
      POLOCZKOVÁ, Hana, Jan KREJČÍ, Petr HUDE, Eva OZÁBALOVÁ, Július GODAVA, Tomáš HONEK, Víta ŽAMPACHOVÁ, Iva SVOBODOVÁ, Tomáš FREIBERGER and Lenka ŠPINAROVÁ. Effect of immunosuppressive therapy in inflammatory cardiomyopathy: data from The Czech Inflammatory Cardiomyopathy Immunosuppressive Trial. Bratislava Medical Journal - Bratislavské lekárske listy. BRATISLAVA: Univerzita Komenského, 2022, vol. 123, No 1, p. 37-43. ISSN 0006-9248. Available from: https://dx.doi.org/10.4149/BLL_2022_006.
      More: https://is.muni.cz/publication/2247018/en
    4. Long-term efficacy, safety, and tolerability of a subcutaneous immunoglobulin 16.5% (cutaquig (R)) in the treatment of patients with primary immunodeficiencies
      KOBAYASHI, Roger H., Jiří LITZMAN, Isaac MELAMED, J Fernando MANDUJANO, Ai Lan KOBAYASHI, Bruce RITCHIE, Bob GENG, T Prescott ATKINSON, Syed REHMAN, Sonja HOELLER, Eva TURPEL-KANTOR, Huub KREUWEL, J. C. SPEER and Sudhir GUPTA. Long-term efficacy, safety, and tolerability of a subcutaneous immunoglobulin 16.5% (cutaquig (R)) in the treatment of patients with primary immunodeficiencies. Clinical and Experimental Immunology. Hoboken: Wiley, 2022, vol. 210, No 2, p. 91-103. ISSN 0009-9104. Available from: https://dx.doi.org/10.1093/cei/uxac092.
      More: https://is.muni.cz/publication/2240838/en
    5. Overview of subcutaneous immunoglobulin 16.5% in primary and secondary immunodeficiency diseases
      KOBAYASHI, R. H., Jiří LITZMAN, S. RIZVI, H. KREUWEL, S. HOELLER and S. GUPTA. Overview of subcutaneous immunoglobulin 16.5% in primary and secondary immunodeficiency diseases. IMMUNOTHERAPY. London: FUTURE MEDICINE LTD, 2022, vol. 14, No 4, p. 259-270. ISSN 1750-743X. Available from: https://dx.doi.org/10.2217/imt-2021-0313.
      More: https://is.muni.cz/publication/1847090/en
    6. Paediatric familial hypercholesterolaemia screening in Europe: public policy background and recommendations
      GIDDING, Samuel S., Albert WIEGMAN, Urh GROSELJ, Tomáš FREIBERGER, Noel PERETTI, Kanika I DHARMAYAT, Magdalena DACCORD, Nicola BEDLINGTON, Jaka SIKONJA, Kausik K RAY, Raul D SANTOS, Martin HALLE, Lale TOKGOZOGLU, Inaki GUTIERREZ-IBARLUZEA, Fausto J PINTO and Marius GEANTA. Paediatric familial hypercholesterolaemia screening in Europe: public policy background and recommendations. EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY. OXFORD: OXFORD UNIV PRESS, 2022, vol. 29, No 18, p. 2301-2311. ISSN 2047-4873. Available from: https://dx.doi.org/10.1093/eurjpc/zwac200.
      More: https://is.muni.cz/publication/2243399/en
    7. Registry-based analysis of Icatibant and C1-inhibitor use in treatment of laryngeal attacks of hereditary angioedema
      HAKL, Roman, Pavel KUKLÍNEK, Marta SOBOTKOVA, Irena KRCMOVA, Pavlina KRALICKOVA, Martina VACHOVA, Jana HANZLIKOVA, Martina NOVACKOVA, Michal SVOBODA, Ingrid KOVÁČOVÁ and Jiří LITZMAN. Registry-based analysis of Icatibant and C1-inhibitor use in treatment of laryngeal attacks of hereditary angioedema. CLINICAL AND EXPERIMENTAL ALLERGY. HOBOKEN: WILEY, 2022, vol. 52, No 8, p. 994-997. ISSN 0954-7894. Available from: https://dx.doi.org/10.1111/cea.14182.
      More: https://is.muni.cz/publication/2215440/en
    8. Risk Factors for Severe COVID-19 and Hospital Admission in Patients With Inborn Errors of Immunity-Results From a Multicenter Nationwide Study
      MILOTA, Tomas, Marta SOBOTKOVA, Jitka SMETANOVA, Marketa BLOOMFIELD, Jana VYDLAKOVA, Zita CHOVANCOVÁ, Jiří LITZMAN, Roman HAKL, Jiri NOVAK, Ivana MALKUSOVA, Jana HANZLIKOVA, Dalibor JILEK, Beata HUTYROVA, Vitezslav NOVAK, Irena KRCMOVA, Anna SEDIVA and Pavlina KRALICKOVA. Risk Factors for Severe COVID-19 and Hospital Admission in Patients With Inborn Errors of Immunity-Results From a Multicenter Nationwide Study. Frontiers in Immunology. Laussane: Frontiers, 2022, vol. 13, February 2022, p. 1-8. ISSN 1664-3224. Available from: https://dx.doi.org/10.3389/fimmu.2022.835770.
      More: https://is.muni.cz/publication/1847088/en
    9. The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification
      CHORA, J. R., M. A. IACOCCA, Lukas TICHÝ, H. WAND, C. L. KURTZ, H. ZIMMERMANN, A. LEON, M. WILLIAMS, C. L. HUMPHRIES, A. J. HOOPER, M. TRINDER, L. R. BRUNHAM, A. COSTA PEREIRA, C. E. JANNES, M. CHEN, J. CHONIS, J. WANG, S. KIM, T. JOHNSTON, Přemysl SOUČEK, Michal KRAMÁREK, S. E LEIGH., A. CARRIÉ, E. J. SIJBRANDS, R. A HEGELE., Tomáš FREIBERGER, J. W. KNOWLES and M. BOURBON. The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification. Genetics In Medicine. United States: Lippincott, Williams & Wilkins, 2022, vol. 24, No 2, p. 293-306. ISSN 1098-3600. Available from: https://dx.doi.org/10.1016/j.gim.2021.09.012.
      More: https://is.muni.cz/publication/1863070/en
    10. Therapeutic options for CTLA-4 insufficiency
      EGG, D., I. C. RUMP, N. MITSUIKI, J. ROJAS-RESTREPO, M. E. MACCARI, C. SCHWAB, A. GABRYSCH, K. WARNATZ, S. GOLDACKER, V. PATIÑO, D. WOLFF, S. OKADA, S. HAYAKAWA, Y. SHIKAMA, K. KANDA, K. IMAI, M. SOTOMATSU, M. KUWASHIMA, T. KAMIYA, T. MORIO, K. MATSUMOTO, T. MORI, Y. YOSHIMOTO, I. DYBEDAL, M. KANARIOU, Z. Y. KUCUK, H. CHAPDELAINE, L. PETRUZELKOVA, H. M. LORENZ, K. E. SULLIVAN, J. HEIMALL, M. MOUTSCHEN, Jiří LITZMAN, M. RECHER, M. H. ALBERT, F. HAUCK, S. SENEVIRATNE, J. PACHLOPNIK SCHMID, A. KOLIOS, G. UNGLIK, C. KLEMANN, S. SNAPPER, L. GIULINO-ROTH, Michael SVATON, C. D. PLATT, S. HAMBLETON, O. NETH, G. GOSSE, S. REINSCH, D. HOLZINGER, Y. J. KIM, S. BAKHTIAR, F. ATSCHEKZEI, R. SCHMIDT, G. SOGKAS, S. CHANDRAKASAN, W. RAE, B. DERFALVI, H. V. MARQUART, A. OZEN, A. KIYKIM, E. KARAKOC-AYDINER, P. KRÁLÍČKOVÁ, G. DE BREE, D. KIRITSI, M. G. SEIDEL, R. KOBBE, J. DANTZER, L. ALSINA, T. ARMANGUE, V. LOUGARIS, P. AGYEMAN, S. NYSTRÖM, D. BUCHBINDER, P. D. ARKWRIGHT and B. GRIMBACHER. Therapeutic options for CTLA-4 insufficiency. Journal of Allergy and Clinical Immunology. New York: Mosby-Elseiver, 2022, vol. 149, No 2, p. 736-746. ISSN 0091-6749. Available from: https://dx.doi.org/10.1016/j.jaci.2021.04.039.
      More: https://is.muni.cz/publication/1847092/en
    11. Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study
      TROMP, Tycho R, Merel L. HARTGERS, G Kees HOVINGH, Antonio J. VALLEJO-VAZ, Kausik K. RAY, Handrean SORAN, Tomáš FREIBERGER, Stefano BERTOLINI, Mariko HARADA-SHIBA, Dirk J. BLOM, Frederick J. RAAL and Marina CUCHEL. Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study. Lancet. New York: Elsevier Science Inc., 2022, vol. 399, No 10326, p. 719-728. ISSN 0140-6736. Available from: https://dx.doi.org/10.1016/S0140-6736(21)02001-8.
      More: https://is.muni.cz/publication/2211024/en

    2021

    1. A case of homozygous familial hypercholesterolemia with an atypical phenotype and delayed clinical symptoms
      KYSELÁK, Ondřej, Vladimír SOŠKA, Jan KOVAR, Lukas TICHY, Hana GROMBIŘÍKOVÁ, Jaroslav A. HUBACEK and Tomáš FREIBERGER. A case of homozygous familial hypercholesterolemia with an atypical phenotype and delayed clinical symptoms. Journal of Clinical Lipidology. New York: Elsevier, 2021, vol. 15, No 3, p. 435-440. ISSN 1933-2874. Available from: https://dx.doi.org/10.1016/j.jacl.2021.04.006.
      More: https://is.muni.cz/publication/1769337/en
    2. Acquired Angioedema with C1 Inhibitor Deficiency: Occurrence, Clinical Features, and Management: A Nationwide Retrospective Study in the Czech Republic Patients
      SOBOTKOVA, Marta, Radana ZACHOVA, Roman HAKL, Pavel KUKLÍNEK, Pavlina KRALICKOVA, Irena KRCMOVA, Jana HANZLIKOVA, Martina VACHOVA and Jirina BARTUNKOVA. Acquired Angioedema with C1 Inhibitor Deficiency: Occurrence, Clinical Features, and Management: A Nationwide Retrospective Study in the Czech Republic Patients. International archives of allergy and immunology. Basel: Karger, 2021, vol. 182, No 7, p. 642-649. ISSN 1018-2438. Available from: https://dx.doi.org/10.1159/000512933.
      More: https://is.muni.cz/publication/1743549/en
    3. Actinotignum schaalii: Relation to Concomitants and Connection to Patients’ Conditions in Polymicrobial Biofilms of Urinary Tract Catheters and Urines
      KOTÁSKOVÁ, Iva, Vít SYROVÁTKA, Hana OBRUČOVÁ, Petra VÍDEŇSKÁ, Barbora ZWINSOVÁ, Veronika HOLÁ, Eva BLAŠTÍKOVÁ, Filip RŮŽIČKA and Tomáš FREIBERGER. Actinotignum schaalii: Relation to Concomitants and Connection to Patients’ Conditions in Polymicrobial Biofilms of Urinary Tract Catheters and Urines. Microorganisms. Basel: MDPI, 2021, vol. 9, No 3, p. 1-23. ISSN 2076-2607. Available from: https://dx.doi.org/10.3390/microorganisms9030669.
      More: https://is.muni.cz/publication/1758116/en
    4. Comparison of the mutation spectrum and association with pre and post treatment lipid measures of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries
      FUTEMA, M., U. RAMASWAMI, Lukas TICHY, M. P. BOGSRUD, K. B. HOLVEN, J. R. VAN LENNEP, A. WIEGMAN, OS DESCAMPS, A. DE LEENER, E. FASTRE, Michal VRABLIK, Tomáš FREIBERGER, H. ESTERBAUER, H. DIEPLINGER, S. GREBER-PLATZER, A. M. MEDEIROS, M. BOURBON, V. MOLLAKI, E. DROGARI and S. E. HUMPHRIES. Comparison of the mutation spectrum and association with pre and post treatment lipid measures of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries. Atherosclerosis. Clare: ELSEVIER SCI IRELAND LTD, 2021, vol. 319, FEB 2021, p. 108-117. ISSN 0021-9150. Available from: https://dx.doi.org/10.1016/j.atherosclerosis.2021.01.008.
      More: https://is.muni.cz/publication/1758051/en
    5. Dissection of the Pre-Germinal Center B-Cell Maturation Pathway in Common Variable Immunodeficiency Based on Standardized Flow Cytometric EuroFlow Tools
      DEL PINO-MOLINA, L., E. LOPEZ-GRANADOS, Q. LECREVISSE, J. CANIZALES, M. PEREZ-ANDRES, E. BLANCO, M. WENTINK, C. BONROY, Jana NECHVÁTALOVÁ, Tomas MILOTA, A. K. KIENZLER, J. PHILIPPE, A. E. SOUSA, M. VAN DER BURG, Tomas KALINA, J. J. M. VAN DONGEN and A. ORFAO. Dissection of the Pre-Germinal Center B-Cell Maturation Pathway in Common Variable Immunodeficiency Based on Standardized Flow Cytometric EuroFlow Tools. Frontiers in Immunology. LAUSANNE: FRONTIERS MEDIA SA, 2021, vol. 11, FEB 2021, p. 1-14. ISSN 1664-3224. Available from: https://dx.doi.org/10.3389/fimmu.2020.603972.
      More: https://is.muni.cz/publication/1776207/en
    6. Global guideline for the diagnosis and management of rare mould infections: an initiative of the European Confederation of Medical Mycology in cooperation with the International Society for Human and Animal Mycology and the American Society for Microbiology
      HOENIGL, M., J. SALMANTON-GARCIA, T. J. WALSH, M. NUCCI, C. F. NEOH, J. D. JENKS, M. LACKNER, R. SPRUTE, A. M. S. AL-HATMI, M. BASSETTI, F. CARLESSE, Tomáš FREIBERGER, P. KOEHLER, T. LEHRNBECHER, A. KUMAR, J. PRATTES, M. RICHARDSON, S. REVANKAR, M. A. SLAVIN, J. STEMLER, B. SPIESS, S. J. TAJ-ALDEEN, A. WARRIS, P. C. Y. WOO, J. A. H. YOUNG, K. ALBUS, D. ARENZ, V. ARSIC-ARSENIJEVIC, J. P. BOUCHARA, T. R. CHINNIAH, A. CHOWDHARY, G. S. DE HOOG, G. DIMOPOULOS, R. F. DUARTE, P. HAMAL, J. F. MEIS, S. MFINANGA, F. QUEIROZ-TELLES, T. F. PATTERSON, G. RAHAV, T. R. ROGERS, C. ROTSTEIN, R. WAHYUNINGSIH, D. SEIDEL and O. A. CORNELY. Global guideline for the diagnosis and management of rare mould infections: an initiative of the European Confederation of Medical Mycology in cooperation with the International Society for Human and Animal Mycology and the American Society for Microbiology. Lancet Infectious Diseases. Oxford: Elsevier SCI LTD, 2021, vol. 21, No 8, p. "E246"-"E257", 12 pp. ISSN 1473-3099. Available from: https://dx.doi.org/10.1016/S1473-3099(20)30784-2.
      More: https://is.muni.cz/publication/1828119/en
    7. Global guideline for the diagnosis and management of rare yeast infections: an initiative of the ECMM in cooperation with ISHAM and ASM
      CHEN, S. C. A., J. PERFECT, A. L. COLOMBO, O. A. CORNELY, A. H. GROLL, D. SEIDEL, K. ALBUS, J. N. DE ALMEDIA, G. GARCIA-EFFRON, N. GILROY, C. LASS-FLORL, L. OSTROSKY-ZEICHNER, L. PAGANO, T. PAPP, R. RAUTEMAA-RICHARDSON, J. SALMANTON-GARCIA, A. SPEC, J. STEINMANN, S. ARIKAN-AKDAGLI, D. E. ARENZ, R. SPRUTE, L. DURAN-GRAEFF, Tomáš FREIBERGER, C. GIRMENIA, M. HARRIS, S. S. KANJ, M. ROUDBARY, O. LORTHOLARY, J. MELETIADIS, E. SEGAL, F. F. TUON, N. WIEDERHOLD, T. BICANIC, J. CHANDER, Y. C. CHEN, P. R. HSUEH, M. IP, P. MUNOZ, I. SPRIET, E. TEMFACK, L. THOMPSON, A. M. TORTORANO, A. VELEGRAKI and N. P. GOVENDER. Global guideline for the diagnosis and management of rare yeast infections: an initiative of the ECMM in cooperation with ISHAM and ASM. Lancet Infectious Diseases. Oxford: Elsevier SCI LTD, 2021, vol. 21, No 12, p. "E375"-"E386", 12 pp. ISSN 1473-3099. Available from: https://dx.doi.org/10.1016/S1473-3099(21)00203-6.
      More: https://is.muni.cz/publication/1828120/en
    8. Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)
      VALLEJO-VAZ, Antonio J., Christophe A. T. STEVENS, Alexander R. M. LYONS, Kanika I. DHARMAYAT, Tomáš FREIBERGER, G Kees HOVINGH, Pedro MATA, Frederick J. RAAL, Raul D. SANTOS, Handrean SORAN, Gerald F. WATTS, Marianne ABIFADEL, Carlos A. AGUILAR-SALINAS, Khalid F. ALHABIB, Mutaz ALKHNIFSAWI, Wael ALMAHMEED, Fahad ALNOURI, Rodrigo ALONSO, Khalid AL-RASADI, Ahmad AL-SARRAF, Nasreen AL-SAYED, Francisco ARAUJO, Tester F. ASHAVAID, Maciej BANACH, Sophie BÉLIARD, Marianne BENN, Christoph J. BINDER, Martin P. BOGSRUD, Mafalda BOURBON, Krzysztof CHLEBUS, Pablo CORRAL, Kairat DAVLETOV, Olivier S. DESCAMPS, Ronen DURST, Marat EZHOV, Dan GAITA, Jacques GENEST, Urh GROSELJ, Mariko HARADA-SHIBA, Kirsten B HOLVEN, Meral KAYIKCIOGLU, Weerapan KHOVIDHUNKIT, Katarina LALIC, Gustavs LATKOVSKIS, Ulrich LAUFS, Evangelos LIBEROPOULOS, Marcos M. LIMA-MARTINEZ, Jie LIN, Vincent MAHER, David MARAIS, Winfried MÄRZ, Erkin MIRRAKHIMOV, André R. MISEREZ, Olena MITCHENKO, Hapizah NAWAWI, Børge G. NORDESTGAARD, Andrie G. PANAYIOTOU, György PARAGH, Zaneta PETRULIONIENE, Belma POJSKIC, Arman POSTADZHIYAN, Katarina RASLOVA, Ashraf REDA, Željko REINER, Fouzia SADIQ, Wilson Ehidiamen SADOH, Heribert SCHUNKERT, Aleksandr B. SHEK, Mario STOLL, Erik STROES, Ta-Chen SU, Tavintharan SUBRAMANIAM, Andrey V. SUSEKOV, Myra TILNEY, Brian TOMLINSON, Thanh Huong TRUONG, Alexandros D. TSELEPIS, Anne TYBJÆRG-HANSEN, Alejandra Vázquez CÁRDENAS, Margus VIIGIMAA, Luya WANG, Shizuya YAMASHITA, Lale TOKGOZOGLU, Alberico L. CATAPANO and Kausik K. RAY. Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC). Lancet. New York: Elsevier Science Inc., 2021, vol. 398, No 10312, p. 1713-1725. ISSN 0140-6736. Available from: https://dx.doi.org/10.1016/S0140-6736(21)01122-3.
      More: https://is.muni.cz/publication/1828123/en
    9. Hematopoietic stem cell transplantation positively affects the natural history of cancer in Nijmegen breakage syndrome
      WOLSKA-KUSNIERZ, Beata, Agata PASTORCZAK, Wojciech FENDLER, Anna WAKULINSKA, Bozena DEMBOWSKA-BAGINSKA, Edyta HEROPOLITANSKA-PLISZKA, Barbara PIATOSA, Barbara PIETRUCHA, Krzysztof KALWAK, Marek USSOWICZ, Anna PIECZONKA, Katarzyna DRABKO, Monika LEJMAN, Sylwia KOLTAN, Jolanta GOZDZIK, Jan STYCZYNSKI, Alina FEDOROVA, Natalia MIAKOVA, Elena DERIPAPA, Larysa KOSTYUCHENKO, Zdenka KŘENOVÁ, Eva HLAVÁČKOVÁ, Andrew GENNERY, Karl-Walter SYKORA, Sujal GHOSH, Michael H ALBERT, Dmitry BALASHOV, Mary EAPEN, Peter SVEC, Markus G SEIDEL, Sara Sebnem KILIC, Agnieszka TOMASZEWSKA, Ewa WIESIK-SZEWCZYK, Alexandra KREINS, Johann GREIL, Jochen BUECHNER, Bendik LUND, Hanna GREGOREK, Krystyna CHRZANOWSKA and Wojciech MLYNARSKI. Hematopoietic stem cell transplantation positively affects the natural history of cancer in Nijmegen breakage syndrome. Clinical Cancer Research. Philadelphia: American Association for Cancer Research, 2021, vol. 27, No 2, p. 575-584. ISSN 1078-0432. Available from: https://dx.doi.org/10.1158/1078-0432.CCR-20-2574.
      More: https://is.muni.cz/publication/1697377/en
    10. Immunosuppression Affects Neutrophil Functions: Does Calcineurin-NFAT Signaling Matter?
      VYMAZAL, Ondřej, Kamila KÝROVÁ, Marco DE ZUANI, Marcela VLKOVÁ, Marcela HORTOVÁ KOHOUTKOVÁ and Jan FRIČ. Immunosuppression Affects Neutrophil Functions: Does Calcineurin-NFAT Signaling Matter? Frontiers in Immunology. LAUSANNE: FRONTIERS MEDIA SA, 2021, vol. 12, November 2021, p. 1-9. ISSN 1664-3224. Available from: https://dx.doi.org/10.3389/fimmu.2021.770515.
      More: https://is.muni.cz/publication/1834640/en
    11. Možnosti sledování subpopulací B lymfocytů v periferní krvi v rutinní imunologické laboratoři (Possibilities for the analysis of peripheral blood B cell subpopulations in a routine immunological laboratory)
      ŠTÍCHOVÁ, Julie, Jana NECHVÁTALOVÁ, Jiří LITZMAN and Marcela VLKOVÁ. Možnosti sledování subpopulací B lymfocytů v periferní krvi v rutinní imunologické laboratoři (Possibilities for the analysis of peripheral blood B cell subpopulations in a routine immunological laboratory). Epidemiologie, mikrobiologie, imunologie. Praha: Mladá fronta a.s., 2021, vol. 70, No 4, p. 264-280. ISSN 1210-7913.
      More: https://is.muni.cz/publication/1829380/en
    12. Nucleotides in both donor and acceptor splice sites are responsible for choice in NAGNAG tandem splice sites
      HUJOVÁ, Pavla, Přemysl SOUČEK, Lenka RADOVÁ, Michal KRAMAREK, Tatiana KOVÁČOVÁ and Tomáš FREIBERGER. Nucleotides in both donor and acceptor splice sites are responsible for choice in NAGNAG tandem splice sites. Cellular and molecular life sciences. BASEL: SPRINGER BASEL AG, 2021, vol. 78, 21-22, p. 6979-6993. ISSN 1420-682X. Available from: https://dx.doi.org/10.1007/s00018-021-03943-2.
      More: https://is.muni.cz/publication/1828124/en
    13. Oral once-daily berotralstat for the prevention of hereditary angioedema attacks: A randomized, double-blind, placebo-controlled phase 3 trial
      ZURAW, B., W. R. LUMRY, D. T. JOHNSTON, E. AYGOREN-PURSUN, A. BANERJI, J. A. BERNSTEIN, S. C. CHRISTIANSEN, J. S. JACOBS, K. V. SITZ, R. G. GOWER, R. GAGNON, H. J. WEDNER, T. KINACIYAN, Roman HAKL, Jana HANZLIKOVA, J. T. ANDERSON, D. L. MCNEIL, S. B. FRITZ, W. H. YANG, R. TACHDJIAN, P. J. BUSSE, T. J. CRAIG, H. H. LI, H. FARKAS, J. M. BEST, D. CLEMONS, M. CORNPROPST, S. M. DOBO, H. A. IOCCA, D. KARGL, E. NAGY, S. C. MURRAY, P. COLLIS, W. P. SHERIDAN, M. MAURER and M. A. RIEDL. Oral once-daily berotralstat for the prevention of hereditary angioedema attacks: A randomized, double-blind, placebo-controlled phase 3 trial. Journal of allergy and clinical immunology. New York: Mosby-Elsevier, 2021, vol. 148, No 1, p. "164"-"172.e9", 18 pp. ISSN 0091-6749. Available from: https://dx.doi.org/10.1016/j.jaci.2020.10.015.
      More: https://is.muni.cz/publication/1786780/en
    14. Patients With Common Variable Immunodeficiency (CVID) Show Higher Gut Bacterial Diversity and Levels of Low-Abundance Genes Than the Healthy Housemates
      BOSÁK, Juraj, Matej LEXA, Kristýna FIEDOROVÁ, Darshak Chandulal GADARA, Lenka MICENKOVÁ, Zdeněk SPÁČIL, Jiří LITZMAN, Tomáš FREIBERGER and David ŠMAJS. Patients With Common Variable Immunodeficiency (CVID) Show Higher Gut Bacterial Diversity and Levels of Low-Abundance Genes Than the Healthy Housemates. Frontiers in Immunology. LAUSANNE: FRONTIERS MEDIA SA, 2021, vol. 12, May 2021, p. 1-13. ISSN 1664-3224. Available from: https://dx.doi.org/10.3389/fimmu.2021.671239.
      More: https://is.muni.cz/publication/1798287/en
    15. Prospective Cohort Study of Infective Endocarditis in People Who Inject Drugs
      PERICAS, J. M., J. LLOPIS, E. ATHAN, M. HERNANDEZ-MENESES, M. M. HANNAN, D. R. MURDOCH, Z. KANAFANI, Tomáš FREIBERGER, J. STRAHILEVITZ, N. FERNANDEZ-HIDALGO, C. LAMAS, E. DURANTE-MANGONI, P. TATTEVIN, F. NACINOVICH, V. H. CHU and J. M. MIRO. Prospective Cohort Study of Infective Endocarditis in People Who Inject Drugs. Journal of the American College of Cardiology. New York: Elsevier Science INC, 2021, vol. 77, No 5, p. 544-555. ISSN 0735-1097. Available from: https://dx.doi.org/10.1016/j.jacc.2020.11.062.
      More: https://is.muni.cz/publication/1776200/en
    16. Recombinant human C1 esterase inhibitor for hereditary angioedema attacks: A European registry
      VALERIEVA, A., M. T. STAEVSKA, V. GRIVCHEVA-PANOVSKA, M. JESENAK, K. V. KOHALMI, K. HRUBISKOVA, A. ZANICHELLI, L. BELLIZZI, A. RELAN, Roman HAKL and H. FARKAS. Recombinant human C1 esterase inhibitor for hereditary angioedema attacks: A European registry. WORLD ALLERGY ORGANIZATION JOURNAL. AMSTERDAM: ELSEVIER, 2021, vol. 14, No 4, p. 1-8. ISSN 1939-4551. Available from: https://dx.doi.org/10.1016/j.waojou.2021.100535.
      More: https://is.muni.cz/publication/1774646/en
    17. TNFR2 expression is a hallmark of human memory B cells with suppressive function
      TICHA, Olga, Peter SLANINA, Lukas MOOS, Julie ŠTÍCHOVÁ, Marcela VLKOVÁ and Isabelle BEKEREDJIAN-DING. TNFR2 expression is a hallmark of human memory B cells with suppressive function. EUROPEAN JOURNAL OF IMMUNOLOGY. HOBOKEN: WILEY, 2021, vol. 51, No 5, p. 1195-1205. ISSN 0014-2980. Available from: https://dx.doi.org/10.1002/eji.202048988.
      More: https://is.muni.cz/publication/1769698/en

    2020

    1. Comparison of the characteristics at diagnosis and treatment of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries
      RAMASWAMI, U., M. FUTEMA, M. P. BOGSRUD, K. B. HOLVEN, J. R. VAN LENNEP, A. WIEGMAN, O. S. DESCAMPS, M. VRABLIK, Tomáš FREIBERGER, H. DIEPLINGER, S. GREBER-PLATZER, G. HANAUER-MADER, M. BOURBON, E. DROGARI and S. E. HUMPHRIES. Comparison of the characteristics at diagnosis and treatment of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries. Atherosclerosis. Clare: ELSEVIER SCI IRELAND LTD, 2020, vol. 292, JAN 2020, p. 178-187. ISSN 0021-9150. Available from: https://dx.doi.org/10.1016/j.atherosclerosis.2019.11.012.
      More: https://is.muni.cz/publication/1670343/en
    2. Comprehensive Molecular Profiling for Relapsed/Refractory Pediatric Burkitt Lymphomas-Retrospective Analysis of Three Real-Life Clinical Cases-Addressing Issues on Randomization and Customization at the Bedside
      POLÁŠKOVÁ, Kristýna, Tomáš MERTA, Alexandra MARTINČEKOVÁ, Danica ZAPLETALOVÁ, Michal KÝR, Pavel MAZÁNEK, Zdenka KŘENOVÁ, Peter MÚDRY, Marta JEŽOVÁ, Jiří TŮMA, Jarmila SKOTÁKOVÁ, Ivana ČERVINKOVÁ, Dalibor VALÍK, Lenka ZDRAŽILOVÁ DUBSKÁ, Hana NOSKOVÁ, Karol PÁL, Ondřej SLABÝ, Pavel FABIAN, Šárka KOZÁKOVÁ, Jakub NERADIL, Renata VESELSKÁ, Veronika KANDEROVÁ, Jiří ŠTARHA, Tomáš FREIBERGER, Giannoula Lakka KLEMENT and Jaroslav ŠTĚRBA. Comprehensive Molecular Profiling for Relapsed/Refractory Pediatric Burkitt Lymphomas-Retrospective Analysis of Three Real-Life Clinical Cases-Addressing Issues on Randomization and Customization at the Bedside. Frontiers in Oncology. Lausanne: Frontiers Media S.A., 2020, vol. 9, FEB 2020, p. 1-9. ISSN 2234-943X. Available from: https://dx.doi.org/10.3389/fonc.2019.01531.
      More: https://is.muni.cz/publication/1670461/en
    3. Deep Intronic Mutation in SERPING1 Caused Hereditary Angioedema Through Pseudoexon Activation
      HUJOVÁ, Pavla, Přemysl SOUČEK, Lucie GRODECKÁ, Hana GROMBIŘÍKOVÁ, Barbora RAVČUKOVÁ, Pavel KUKLÍNEK, Roman HAKL, Jiří LITZMAN and Tomáš FREIBERGER. Deep Intronic Mutation in SERPING1 Caused Hereditary Angioedema Through Pseudoexon Activation. Journal of Clinical Immunology. New York: Springer, 2020, vol. 40, No 3, p. 435-446. ISSN 0271-9142. Available from: https://dx.doi.org/10.1007/s10875-020-00753-2.
      More: https://is.muni.cz/publication/1677116/en
    4. EuroFlow Standardized Approach to Diagnostic Immunopheneotyping of Severe PID in Newborns and Young Children
      KALINA, T., M. BAKARDJIEVA, M. BLOM, M. PEREZ-ANDRES, B. BARENDREGT, V. KANDEROVA, C. BONROY, J. PHILIPPE, E. BLANCO, I. PICO-KNIJNENBURG, J. H. M. P. PAPING, B. WOLSKA-KUSNIERZ, M. PAC, J. TKAZCYK, F. HAERYNCK, H. H. AKAR, R. FORMANKOVA, Tomáš FREIBERGER, M. SVATORI, A. SEDIVA, S. ARRIBA-MENDEZ, A. ORFAO, J. J. M. VAN DONGEN and M. VAN DER BURG. EuroFlow Standardized Approach to Diagnostic Immunopheneotyping of Severe PID in Newborns and Young Children. Frontiers in Immunology. LAUSANNE: FRONTIERS MEDIA SA, 2020, vol. 11, MAR 2020, p. 1-14. ISSN 1664-3224. Available from: https://dx.doi.org/10.3389/fimmu.2020.00371.
      More: https://is.muni.cz/publication/1673740/en
    5. European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management
      BRODSZKI, Nicholas, Ashley FRAZER-ABEL, Anete S. GRUMACH, Anete S. KIRSCHFINK, Jiří LITZMAN, Elena PEREZ, Mikko R. J. SEPPANEN, Kathleen E. SULLIVAN and Stephen JOLLES. European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management. Journal of Clinical Immunology. New York: Springer, 2020, vol. 40, No 4, p. 576-591. ISSN 0271-9142. Available from: https://dx.doi.org/10.1007/s10875-020-00754-1.
      More: https://is.muni.cz/publication/1670607/en
    6. Genetics of Familial Hypercholesterolemia: New Insights
      VRABLIK, Michal, Lukas TICHY, Tomáš FREIBERGER, Vladimir BLAHA, Martin SATNY and Jaroslav A. HUBACEK. Genetics of Familial Hypercholesterolemia: New Insights. Frontiers in Genetics. Laussane: FRONTIERS MEDIA SA, 2020, vol. 11, OCT 2020, p. 1-10. ISSN 1664-8021. Available from: https://dx.doi.org/10.3389/fgene.2020.574474.
      More: https://is.muni.cz/publication/1688924/en
    7. International Society of Cardiovascular Infectious Diseases Guidelines for the Diagnosis, Treatment and Prevention of Disseminated Mycobacterium chimaera Infection Following Cardiac Surgery with Cardiopulmonary Bypass
      HASSE, B., M. M. HANNAN, P. M. KELLER, F. P. MAURER, R. SOMMERSTEIN, D. MERTZ, D. WAGNER, N. FERNANDEZ-HIDALGO, J. NOMURA, V. MANFRIN, D. BETTEX, A. H. CONTE, E. DURANTE-MANGONI, T. H. C. TANG, R. L. STUART, J. LUNDGREN, S. GORDON, M. C. JARASHOW, P. W. SCHREIBER, S. NIEMANN, T. A. KOHL, C. L. DALEY, A. J. STEWARDSON, C. J. WHITENER, K. PERKINS, D. PLACHOURAS, T. LAMAGNI, M. CHAND, Tomáš FREIBERGER, S. ZWEIFEL, P. SANDER, B. SCHULTHESS, J. E. SCRIVEN, H. SAX, J. VAN INGEN, C. A. MESTRES, D. DIEKEMA, B. A. BROWN-ELLIOTT, R. J. WALLACE, L. M. BADDOUR, J. M. MIRO and B. HOEN. International Society of Cardiovascular Infectious Diseases Guidelines for the Diagnosis, Treatment and Prevention of Disseminated Mycobacterium chimaera Infection Following Cardiac Surgery with Cardiopulmonary Bypass. The journal of hospital infection. London: W.B. Saunders, 2020, vol. 104, No 2, p. 214-235. ISSN 0195-6701. Available from: https://dx.doi.org/10.1016/j.jhin.2019.10.009.
      More: https://is.muni.cz/publication/1673725/en
    8. Low Density Lipoprotein Receptor Variants in the Beta-Propeller Subdomain and Their Functional Impact
      DUŠKOVÁ, Lucie, Lucie NOHELOVÁ, Tomáš LOJA, Jana FIALOVÁ, Petra ZAPLETALOVÁ, Kamila RÉBLOVÁ, Lukáš TICHÝ, Tomáš FREIBERGER and Lenka FAJKUSOVÁ. Low Density Lipoprotein Receptor Variants in the Beta-Propeller Subdomain and Their Functional Impact. Frontiers in Genetics. Laussane: FRONTIERS MEDIA SA, 2020, vol. 11, JUN 2020, p. 1-10. ISSN 1664-8021. Available from: https://dx.doi.org/10.3389/fgene.2020.00691.
      More: https://is.muni.cz/publication/1677117/en
    9. Mendelian Susceptibility to Mycobacterial Disease: The First Case of a Diagnosed Adult Patient in the Czech Republic
      PRUCHA, Miroslav, Hana GROMBIŘÍKOVÁ, Pavel ZDRAHAL, Marketa BLOOMFIELD, Zuzana PARACKOVA and Tomáš FREIBERGER. Mendelian Susceptibility to Mycobacterial Disease: The First Case of a Diagnosed Adult Patient in the Czech Republic. CASE REPORTS IN IMMUNOLOGY. LONDON: HINDAWI LTD, 2020, vol. 2020, DEC 2020, p. 1-5. ISSN 2090-6609. Available from: https://dx.doi.org/10.1155/2020/8836685.
      More: https://is.muni.cz/publication/1734857/en
    10. Neurological manifestation of immune system dysregulation resulting from CTLA-4 receptor mutation: a case report
      KOLČAVA, Jan, Jiří LITZMAN, Josef BEDNAŘÍK, Jakub STULÍK and Pavel ŠTOURAČ. Neurological manifestation of immune system dysregulation resulting from CTLA-4 receptor mutation: a case report. MULTIPLE SCLEROSIS AND RELATED DISORDERS. OXFORD: ELSEVIER SCI LTD, 2020, vol. 45, October 2020, p. 1-4. ISSN 2211-0348. Available from: https://dx.doi.org/10.1016/j.msard.2020.102313.
      More: https://is.muni.cz/publication/1672077/en
    11. Novel XIAP mutation causing enhanced spontaneous apoptosis and disturbed NOD2 signalling in a patient with atypical adult-onset Crohn's disease
      PARACKOVA, Zuzana, Tomas MILOTA, Petra VRABCOVA, Jitka SMETANOVA, Michael SVATON, Tomáš FREIBERGER, Veronika KANDEROVA and Anna SEDIVA. Novel XIAP mutation causing enhanced spontaneous apoptosis and disturbed NOD2 signalling in a patient with atypical adult-onset Crohn's disease. CELL DEATH & DISEASE. LONDON: NATURE PUBLISHING GROUP, 2020, vol. 11, No 6, p. 1-11. ISSN 2041-4889. Available from: https://dx.doi.org/10.1038/s41419-020-2652-4.
      More: https://is.muni.cz/publication/1673768/en
    12. Recombinant human C1 esterase inhibitor as short-term prophylaxis in patients with hereditary angioedema
      VALERIEVA, Anna, Maria STAEVSKA, Milos JESENAK, Katarina HRUBISKOVA, Marta SOBOTKOVA, Radana ZACHOVA, Roman HAKL, Sladjana ANDREJEVIC, Tobias SUITER, Vesna GRIVCHEVA-PANOVSKA, Ljerka KARADZA-LAPIC, Daniel SOTERES, Ralph SHAPIRO, Jeffrey RUMBYRT, Raffi TACHDJIAN, Vinay MEHTA, F. Ida HSU and Andrea ZANICHELLI. Recombinant human C1 esterase inhibitor as short-term prophylaxis in patients with hereditary angioedema. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE. AMSTERDAM: ELSEVIER, 2020, vol. 8, No 2, p. 799-802. ISSN 2213-2198. Available from: https://dx.doi.org/10.1016/j.jaip.2019.08.011.
      More: https://is.muni.cz/publication/1637706/en
    13. Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia: A Global Call to Action
      WILEMON, K. A., J. PATEL, C. AGUILAR-SALINAS, C. D. AHMED, M. ALKHNIFSAWI, W. ALMAHMEED, R. ALONSO, K. AL-RASADI, L. BADIMON, L. M. BERNAL, M. P. BOGSRUD, L. T. BRAUN, L. BRUNHAM, A. L. CATAPANO, K. CILLIKOVA, P. CORRAL, R. CUEVAS, J. C. DEFESCHE, O. S. DESCAMPS, S. DE FERRANTI, J. L. EISELE, G. ELIKIR, E. FOLCO, Tomáš FREIBERGER, F. FUGGETTA, I. M. GASPAR, A. G. GESZTES, U. GROSELJ, I. HAMILTON-CRAIG, G. HANAUER-MADER, M. HARADA-SHIBA, G. HASTINGS, G. K. HOVINGH, M. C. IZAR, A. JAMISON, G. N. KARLSSON, M. KAYIKCIOGLU, S. KOOB, M. KOSEKI, S. LANE, M. M. LIMA-MARTINEZ, G. LOPEZ, T. L. MARTINEZ, D. MARAIS, L. MARION, P. MATA, I. MAURINA, D. MAXWELL, R. MEHTA, G. A. MENSAH, A. R. MISEREZ, D. NEELY, S. J. NICHOLLS, A. NOHARA, B. G. NORDESTGAARD, L. OSE, A. PALLIDIS, J. PANG, J. PAYNE, A. L. PETERSON, M. P. POPESCU, R. PURI, K. K. RAY, A. REDA, T. SAMPIETRO, R. D. SANTOS, I. SCHALKERS, L. SCHREIER, M. D. SHAPIRO, E.. SIJBRANDS, D. SOFFER, C. STEFANUTTI, M. STOLL, R. G. SY, M. L. TAMAYO, M. K. TILNEY, L. TOKGOZOGLU, B. TOMLINSON, A. J. VALLEJO-VAZ, A. VAZQUEZ-CARDENAS, P. V. DE LUCA, D. S. WALD, G. F. WATTS, N. K. WENGER, M. WOLF, D. WOOD, A: ZEGERIUS, T. A. GAZIANO and S. S. GIDDING. Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia: A Global Call to Action. JAMA Cardiology. Chicago: American Medical Association, 2020, vol. 5, No 2, p. 217-229. ISSN 2380-6583. Available from: https://dx.doi.org/10.1001/jamacardio.2019.5173.
      More: https://is.muni.cz/publication/1677118/en
    14. Serotonin transporter gene (SLC6A4) variability in patients with recurrent aphthous stomatitis
      SLEZÁKOVÁ, Simona, Petra BOŘILOVÁ LINHARTOVÁ, Jirina BARTOVA, Jitka PETANOVA, Pavel KUKLÍNEK, Antonín FASSMANN and Lydie IZAKOVIČOVÁ HOLLÁ. Serotonin transporter gene (SLC6A4) variability in patients with recurrent aphthous stomatitis. Archives of Oral Biology. Oxford: Pergamon-Elsevier, 2020, vol. 110, FEB 2020, p. 1-6. ISSN 0003-9969. Available from: https://dx.doi.org/10.1016/j.archoralbio.2019.104628.
      More: https://is.muni.cz/publication/1653758/en
    15. Splicing Enhancers at Intron-Exon Borders Participate in Acceptor Splice Sites Recognition
      KOVÁČOVÁ, Tatiana, Přemysl SOUČEK, Pavla HUJOVÁ, Tomáš FREIBERGER and Lucie GRODECKÁ. Splicing Enhancers at Intron-Exon Borders Participate in Acceptor Splice Sites Recognition. International Journal of Molecular Sciences. Basel: Multidisciplinary Digital Publishing Institute, 2020, vol. 21, No 18, p. 1-18. ISSN 1422-0067. Available from: https://dx.doi.org/10.3390/ijms21186553.
      More: https://is.muni.cz/publication/1690936/en
    16. The Clinical and Genetic Spectrum of 82 Patients WithRAGDeficiency Including a c.256_257delAA Founder Variant in Slavic Countries
      SHARAPOVA, S. O., M. SKOMSKA-PAWLISZAK, Y. A. RODINA, B. WOLSKA-KUSNIERZ, N. DABROWSKA-LEONIK, B. MIKOLUC, O. E. PASHCHENKO, S. PASIC, Tomáš FREIBERGER, T. MILOTA, R. FORMANKOVA, A. SZAFLARSKA, M. SIEDLAR, T. AVCIN, G. MARKELJ, P. CIZNAR, K. KALWAK, S. KOTTAN, T. JACKOWSKA, K. DRABKO, A. GAGRO, M. PAC, E. NAUMOVA, S. KANDILAROVA, K. BABOL-POKORA, D. S. VARABYOU, B. H. BARENDREGT, E. V. RAYKINA, T. V. VARLAMOVA, A. V. PAVLOVA, Hana GROMBIŘÍKOVÁ, M. DEBELJAK, I. V. MERSIYANOVA, A. V BONDARENKO, L. I. CHERNYSHOVA, L. V. KOSTYUCHENKO, M. N. GUSEVA, J. RASCON, A. MULEVICIENE, E. PREIKSAITIENE, C. B. GEIER, A. LEISS-PILLER, Y. YAMAZAKI, T. KAWAI, J. E. WALTER, I.V. KONDRATENKO, A. SEDIVA, M. VAN DER BURG, N. B. KUZMENKO, L. D. NOTARANGELO, E. BERNATOWSKA and O. V. ALEINIKOVA. The Clinical and Genetic Spectrum of 82 Patients WithRAGDeficiency Including a c.256_257delAA Founder Variant in Slavic Countries. Frontiers in Immunology. LAUSANNE: FRONTIERS MEDIA SA, 2020, vol. 11, June 2020, p. 1-13. ISSN 1664-3224. Available from: https://dx.doi.org/10.3389/fimmu.2020.00900.
      More: https://is.muni.cz/publication/1673759/en

    2019

    1. Bacterial but Not Fungal Gut Microbiota Alterations Are Associated With Common Variable Immunodeficiency (CVID) Phenotype
      FIEDOROVÁ, Kristýna, Matěj RADVANSKÝ, Juraj BOSÁK, Hana GROMBIŘÍKOVÁ, Eva NĚMCOVÁ, Pavlina KRÁLÍČKOVÁ, Michaela ČERNOCHOVÁ, Iva KOTÁSKOVÁ, Matej LEXA, Jiří LITZMAN, David ŠMAJS and Tomáš FREIBERGER. Bacterial but Not Fungal Gut Microbiota Alterations Are Associated With Common Variable Immunodeficiency (CVID) Phenotype. Frontiers in Immunology. LAUSANNE: FRONTIERS MEDIA SA, 2019, vol. 10, No 1914, p. 1-14. ISSN 1664-3224. Available from: https://dx.doi.org/10.3389/fimmu.2019.01914.
      More: https://is.muni.cz/publication/1553877/en
    2. Capability of Fluorescent Capillary Electrophoresis To Distinguish Species of the Candida parapsilosis Complex
      KOTÁSKOVÁ, Iva, Hana OBRUČOVÁ, Veronika LÝČKOVÁ, Filip RŮŽIČKA and Tomáš FREIBERGER. Capability of Fluorescent Capillary Electrophoresis To Distinguish Species of the Candida parapsilosis Complex. Journal of Clinical Microbiology. Washington: American Society for Microbiology, 2019, vol. 57, No 5, p. 1-3. ISSN 0095-1137. Available from: https://dx.doi.org/10.1128/JCM.00135-19.
      More: https://is.muni.cz/publication/1539496/en
    3. Clinical Efficacy, Safety and Tolerability of a New Subcutaneous Immunoglobulin 16.5% (Octanorm [Cutaquig (R)]) in the Treatment of Patients With Primary Immunodeficiencies
      KOBAYASHI, Roger H., Sudhir GUPTA, Isaac MELAMED, Fernando J. MANDUJANO, Ai Lan KOBAYASHI, Bruce RITCHIE, Bob GENG, Thomas Prescott ATKINSON, Syed REHMAN, Eva TURPEL-KANTOR and Jiří LITZMAN. Clinical Efficacy, Safety and Tolerability of a New Subcutaneous Immunoglobulin 16.5% (Octanorm [Cutaquig (R)]) in the Treatment of Patients With Primary Immunodeficiencies. Frontiers in Immunology. LAUSANNE: FRONTIERS MEDIA SA, 2019, vol. 10, No 40, p. 1-12. ISSN 1664-3224. Available from: https://dx.doi.org/10.3389/fimmu.2019.00040.
      More: https://is.muni.cz/publication/1521040/en
    4. Common variable immunodeficiency patients display elevated plasma levels of granulocyte activation markers elastase and myeloperoxidase
      LITZMAN, Jiří, Zita CHOVANCOVÁ, Petr BEJDÁK, Marek LITZMAN, Zdeněk HEL and Marcela VLKOVÁ. Common variable immunodeficiency patients display elevated plasma levels of granulocyte activation markers elastase and myeloperoxidase. INTERNATIONAL JOURNAL OF IMMUNOPATHOLOGY AND PHARMACOLOGY. THOUSAND OAKS: SAGE PUBLICATIONS INC, 2019, vol. 33, UNSP 2058738419843381, p. 1-10. ISSN 0394-6320. Available from: https://dx.doi.org/10.1177/2058738419843381.
      More: https://is.muni.cz/publication/1527055/en
    5. CVID-Associated Tumors: Czech Nationwide Study Focused on Epidemiology, Immunology, and Genetic Background in a Cohort of Patients With CVID
      KRALICKOVA, Pavlina, Tomas MILOTA, Jiří LITZMAN, Ivana MALKUSOVA, Dalibor JILEK, Jitka PETANOVA, Jana VYDLAKOVA, Alena ZIMULOVA, Eva FRONKOVA, Michael SVATON, Veronika KANDEROVA, Marketa BLOOMFIELD, Zuzana PARACKOVA, Adam KLOCPERK, Jiri HAVIGER, Tomas KALINA and Anna SEDIVA. CVID-Associated Tumors: Czech Nationwide Study Focused on Epidemiology, Immunology, and Genetic Background in a Cohort of Patients With CVID. Frontiers in Immunology. LAUSANNE: FRONTIERS MEDIA SA, 2019, vol. 9, No 3135, p. 1-11. ISSN 1664-3224. Available from: https://dx.doi.org/10.3389/fimmu.2018.03135.
      More: https://is.muni.cz/publication/1521636/en
    6. Czech Hizentra Noninterventional Study With Rapid Push: Efficacy, Safety, Tolerability, and Convenience of Therapy With 20% Subcutaneous Immunoglobulin
      MILOTA, Tomas, Marketa BLOOMFIELD, Pavlina KRALICKOVA, Dalibor JILEK, Vitezslav NOVAK, Jiří LITZMAN, Helena POSOVA, Lucie MRAZOVA, Jana POLONIOVA, Miroslav PRUCHA, Pavel ROZSIVAL, Vlasta RAUSCHOVA, Gunnar PHILIPP and Anna SEDIVA. Czech Hizentra Noninterventional Study With Rapid Push: Efficacy, Safety, Tolerability, and Convenience of Therapy With 20% Subcutaneous Immunoglobulin. Clinical Therapeutics. BRIDGEWATER: Elsevier, 2019, vol. 41, No 11, p. 2231-2238. ISSN 0149-2918. Available from: https://dx.doi.org/10.1016/j.clinthera.2019.08.013.
      More: https://is.muni.cz/publication/1604796/en
    7. Defects in memory B-cell and plasma cell subsets expressing different immunoglobulin-subclasses in patients with CVID and immunoglobulin subclass deficiencies
      BLANCO, Elena, Martin PEREZ-ANDRES, Sonia ARRIBA-MENDEZ, Cristina SERRANO, Ignacio CRIADO, Lucia DEL PINO-MOLINA, Susana SILVA, Ignacio MADRUGA, Marina BAKARDJIEVA, Catarina MARTINS, Ana SERRA-CAETANO, Alfonso ROMERO, Teresa CONTRERAS-SANFELICIANO, Carolien BONROY, Francisco SALA, Alejandro MARTIN, Jose Maria BASTIDA, Felix LORENTE, Carlos PRIETO, Ignacio DAVILA, Miguel MARCOS, Tomas KALINA, Marcela VLKOVÁ, Zita CHOVANCOVÁ, Ana Isabel CORDEIRO, Jan PHILIPPE, Filomeen HAERYNCK, Eduardo LOPEZ-GRANADOS, Ana E. SOUSA, Mirjam VAN DER BURG, Jacques J. M. VAN DONGEN and Alberto ORFAO. Defects in memory B-cell and plasma cell subsets expressing different immunoglobulin-subclasses in patients with CVID and immunoglobulin subclass deficiencies. Journal of allergy and clinical immunology. New York: Mosby-Elsevier, 2019, vol. 144, No 3, p. 809-824. ISSN 0091-6749. Available from: https://dx.doi.org/10.1016/j.jaci.2019.02.017.
      More: https://is.muni.cz/publication/1623036/en
    8. Early-life exposure to household chemicals and wheezing in children
      MIKEŠ, Ondřej, Markéta VRBOVÁ, Jana KLÁNOVÁ, Pavel ČUPR, Jan ŠVANCARA and Hynek PIKHART. Early-life exposure to household chemicals and wheezing in children. Science of the Total Environment. Amsterdam: Elsevier Science, 2019, vol. 663, May, p. 418-425. ISSN 0048-9697. Available from: https://dx.doi.org/10.1016/j.scitotenv.2019.01.254.
      More: https://is.muni.cz/publication/1548477/en
    9. EuroFlow-Based Flowcytometric Diagnostic Screening and Classification of Primary Immunodeficiencies of the Lymphoid System
      DONGEN VAN, Jacques J. M., Mirjam BURG VAN DER, Tomas KALINA, Martin PEREZ-ANDRES, Ester MEJSTRIKOVA, Marcela VLKOVÁ, Eduardo LOPEZ-GRANADOS, Marjolein WENTINK, Anne-Kathrin KIENZLER, Jan PHILIPPE, Ana E. SOUSA, Menno C. ZELM VAN, Elena BLANCO and Alberto ORFAO. EuroFlow-Based Flowcytometric Diagnostic Screening and Classification of Primary Immunodeficiencies of the Lymphoid System. Frontiers in Immunology. LAUSANNE: FRONTIERS MEDIA SA, 2019, vol. 10, JUN 13 2019, p. 1-21. ISSN 1664-3224. Available from: https://dx.doi.org/10.3389/fimmu.2019.01271.
      More: https://is.muni.cz/publication/1622836/en
    10. Fluorescent Capillary Electrophoresis Is Superior to Culture in Detecting Candida Species from Samples of Urinary Catheters and Ureteral Stents with Mono- or Polyfungal Biofilm Growth
      OBRUCOVA, H., Iva KOTÁSKOVÁ, R. TIHELKOVA, Veronika HOLÁ, Filip RŮŽIČKA and Tomáš FREIBERGER. Fluorescent Capillary Electrophoresis Is Superior to Culture in Detecting Candida Species from Samples of Urinary Catheters and Ureteral Stents with Mono- or Polyfungal Biofilm Growth. Journal of Clinical Microbiology. Washington: American Society for Microbiology, 2019, vol. 57, No 4, p. nestrankovano, 10 pp. ISSN 0095-1137. Available from: https://dx.doi.org/10.1128/JCM.01861-18.
      More: https://is.muni.cz/publication/1531658/en
    11. Gastrointestinal Complications in Primary Immunoglobulin Deficiencies
      LITZMAN, Jiří. Gastrointestinal Complications in Primary Immunoglobulin Deficiencies. In D'Elios, Mario Milco, Rizzi, Marta. Humoral Primary Immunodeficiencies. Basel: Springer, 2019, p. 361-378. Rare Diseases of the Immune System. ISBN 978-3-319-91784-9.
      More: https://is.muni.cz/publication/1521676/en
    12. High-throughput analysis revealed mutations' diverging effects on SMN1 exon 7 splicing
      SOUČEK, Přemysl, Kamila RÉBLOVÁ, Michal KRAMÁREK, Lenka RADOVÁ, Tereza GRYMOVÁ, Pavla HUJOVÁ, Tatiana KOVÁČOVÁ, Matej LEXA, Lucie GRODECKÁ and Tomáš FREIBERGER. High-throughput analysis revealed mutations' diverging effects on SMN1 exon 7 splicing. RNA BIOLOGY. PHILADELPHIA: TAYLOR & FRANCIS INC, 2019, vol. 16, No 10, p. 1364-1376. ISSN 1547-6286. Available from: https://dx.doi.org/10.1080/15476286.2019.1630796.
      More: https://is.muni.cz/publication/1550500/en
    13. Human native endocarditis caused by Streptococcus canis-a case report
      MALIŠOVÁ, Barbora, Petr ŠANTAVÝ, Yvona LOVEČKOVÁ, Bořivoj HLADKÝ, Iva KOTÁSKOVÁ, Jiří POL, Vladimír LONSKÝ, Petr NĚMEC and Tomáš FREIBERGER. Human native endocarditis caused by Streptococcus canis-a case report. Journal of Pathology, Microbiology and Immunology, APMIS. Hoboken: Wiley, 2019, vol. 127, No 1, p. 41-44. ISSN 0903-4641. Available from: https://dx.doi.org/10.1111/apm.12905.
      More: https://is.muni.cz/publication/1489144/en
    14. Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-beta
      LI, J., M. RITELLI, C. S. MA, G. RAO, T. HABIB, E. CORVILAIN, S. BOUGARN, S. CYPOWYJ, Lucie GRODECKÁ, R. LEVY, V. BEZIAT, L. SHANG, K. PAYNE, D. T. AVERY, M. MIGAUD, S. BOUCHERIT, S. BOUGHORBEL, A. GUENNOUN, M. CHRABIEH, F. RAPAPORT, B. BIGIO, Y. ITAN, B. BOISSON, V. CORMIER-DAIRE, D. SYX, F. MALFAIT, N. ZOPPI, L. ABEL, Tomáš FREIBERGER, H. C. DIETZ, N. MARR, S. G. TANGYE, M. COLOMBI, J. L. CASANOVA, A. PUEL and C. FIESCHI. Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-beta. SCIENCE IMMUNOLOGY. WASHINGTON: AMER ASSOC ADVANCEMENT SCIENCE, 2019, vol. 4, No 41, p. 1-13. ISSN 2470-9468. Available from: https://dx.doi.org/10.1126/sciimmunol.aax7965.
      More: https://is.muni.cz/publication/1637576/en
    15. Imaging of Bronchial Pathology in Antibody Deficiency: Data from the European Chest CT Group
      SCHUTZ, Katharina, Diana ALECSANDRU, Bodo GRIMBACHER, Jamanda HADDOCK, Annemarie BRUINING, Gertjan DRIESSEN, Esther DE VRIES, Peter M. VAN HAGEN, Ieneke HARTMANN, Francesco FRAIOLI, Cinzia MILITO, Milica MITREVSKI, Isabella QUINTI, Goffredo SERRA, Peter KELLEHER, Michael LOEBINGER, Jiří LITZMAN, Věra POSTRÁNECKÁ, Vojtěch THON, Judith BABAR, Alison M. CONDLIFFE, Andrew EXLEY, Dinakantha KUMARARATNE, Nick SCREATON, Alison JONES, Maria P. BONDIONI, Vassilios LOUGARIS, Alessandro PLEBANI, Annarosa SORESINA, Cesare SIRIGNANO, Giuseppe SPADARO, Nermeen GALAL, Luis I. GONZALEZ-GRANADO, Sabine DETTMER, Robert STIRLING, Helen CHAPEL, Mary LUCAS, Smita PATEL, Claire-Michele FARBER, Isabelle MEYTS, Arpan K. BANERJEE, Scott HACKETT, John R. HURST, Klaus WARNATZ, Benjamin GATHMANN and Ulrich BAUMANN. Imaging of Bronchial Pathology in Antibody Deficiency: Data from the European Chest CT Group. Journal of Clinical Immunology. New York: Springer, 2019, vol. 39, No 1, p. 45-54. ISSN 0271-9142. Available from: https://dx.doi.org/10.1007/s10875-018-0577-9.
      More: https://is.muni.cz/publication/1549656/en
    16. Impact of acceptor splice site NAGTAG motif on exon recognition
      HUJOVÁ, Pavla, Lucie GRODECKÁ, Přemysl SOUČEK and Tomáš FREIBERGER. Impact of acceptor splice site NAGTAG motif on exon recognition. MOLECULAR BIOLOGY REPORTS. DORDRECHT: Springer, 2019, vol. 46, No 3, p. 2877-2884. ISSN 0301-4851. Available from: https://dx.doi.org/10.1007/s11033-019-04734-6.
      More: https://is.muni.cz/publication/1550501/en
    17. Lymphoproliferation, immunodeficiency and early-onset inflammatory bowel disease associated with a novel mutation in Caspase 8
      KANDEROVA, V., H. GROMBIRIKOVA, I. ZENTSOVA, Kamila RÉBLOVÁ, A. KLOCPERK, M. FEJTKOVA, M. BLOOMFIELD, B. RAVCUKOVA, T. KALINA, Tomáš FREIBERGER and A. SEDIVA. Lymphoproliferation, immunodeficiency and early-onset inflammatory bowel disease associated with a novel mutation in Caspase 8. Haematologica. PAVIA: FERRATA STORTI FOUNDATION, 2019, vol. 104, No 1, p. "E32"-"E34", 3 pp. ISSN 0390-6078. Available from: https://dx.doi.org/10.3324/haematol.2018.201673.
      More: https://is.muni.cz/publication/1531637/en
    18. Molecular Techniques Complement Culture-Based Assessment of Bacteria Composition in Mixed Biofilms of Urinary Tract Catheter-Related Samples
      KOTÁSKOVÁ, Iva, Hana OBRUČOVÁ, Barbora MALIŠOVÁ, Petra VÍDEŇSKÁ, Barbora ZWINSOVÁ, Tereza PEROUTKOVÁ, Milada DVOŘÁČKOVÁ, Petr KUMSTÁT, Pavel TROJAN, Filip RŮŽIČKA, Veronika HOLÁ and Tomáš FREIBERGER. Molecular Techniques Complement Culture-Based Assessment of Bacteria Composition in Mixed Biofilms of Urinary Tract Catheter-Related Samples. Frontiers in Microbiology. Lausanne: Frontiers Media SA, 2019, vol. 10, No 462, p. 1-15. ISSN 1664-302X. Available from: https://dx.doi.org/10.3389/fmicb.2019.00462.
      More: https://is.muni.cz/publication/1539416/en
    19. Muckle-Wells Syndrome Across Four Generations in One Czech Family: Natural Course of the Disease.
      FINGERHUTOVÁ, Šárka, Jana FRÁŇOVÁ, Eva HLAVÁČKOVÁ, Eva JANČOVÁ, Leona PROCHÁZKOVÁ, Kamila BERÁNKOVÁ, Markéta TESAŘOVÁ, EEva HONSOVÁ and Pavla DOLEŽALOVÁ. Muckle-Wells Syndrome Across Four Generations in One Czech Family: Natural Course of the Disease. Frontiers in Immunogy. Lausanne: Frontiers, 2019, vol. 10, APR 16 2019, p. 1-7. ISSN 1664-3224. Available from: https://dx.doi.org/10.3389/fimmu.2019.00802.
      More: https://is.muni.cz/publication/1551156/en
    20. Neutrophil and Granulocytic Myeloid-Derived Suppressor Cell-Mediated T Cell Suppression Significantly Contributes to Immune Dysregulation in Common Variable Immunodeficiency Disorders
      VLKOVÁ, Marcela, Zita CHOVANCOVÁ, Jana NECHVÁTALOVÁ, Ashley Nicole CONNELLY, Marcus Darrell DAVIS, Peter SLANINA, Lucie KUČEROVÁ, Marek LITZMAN, Tereza GRYMOVÁ, Přemysl SOUČEK, Tomáš FREIBERGER, Jiří LITZMAN and Zdenek HEL. Neutrophil and Granulocytic Myeloid-Derived Suppressor Cell-Mediated T Cell Suppression Significantly Contributes to Immune Dysregulation in Common Variable Immunodeficiency Disorders. Journal of immunology. Bethesda: American association of immunologists, 2019, vol. 202, No 1, p. 93-104. ISSN 0022-1767. Available from: https://dx.doi.org/10.4049/jimmunol.1800102.
      More: https://is.muni.cz/publication/1545802/en
    21. Neutrophils Are Dysregulated in Patients with Hereditary Angioedema Types I and II in a Symptom-Free Period
      GRYMOVÁ, Tereza, Marcela VLKOVÁ, Přemysl SOUČEK, Roman HAKL, Jana NECHVÁTALOVÁ, Peter SLANINA, Julie ŠTÍCHOVÁ, Jiří LITZMAN and Tomáš FREIBERGER. Neutrophils Are Dysregulated in Patients with Hereditary Angioedema Types I and II in a Symptom-Free Period. Mediators of Inflammation. New York: Hindawi Publishing Corporation, 2019, vol. 2019, No 9515628, p. 1-12. ISSN 0962-9351. Available from: https://dx.doi.org/10.1155/2019/9515628.
      More: https://is.muni.cz/publication/1545803/en
    22. Novel SAMD9 Mutation in a Patient With Immunodeficiency, Neutropenia, Impaired Anti-CMV Response, and Severe Gastrointestinal Involvement
      FORMANKOVA, Renata, Veronika KANDEROVA, Marketa RACKOVA, Michael SVATON, Tomas BRDICKA, Petr RIHA, Petra KESLOVÁ, Ester MEJSTRIKOVA, Marketa ZALIOVA, Tomáš FREIBERGER, Hana GROMBIŘÍKOVÁ, Zuzana ZEMANOVA, Marcela VLKOVÁ, Filip FENCL, Ivana COPOVA, Jiri BRONSKY, Petr JABANDŽIEV, Petr SEDLACEK, Jana ŠOUKALOVÁ, Ondrej ZAPLETAL, Jan STARY, Jan TRKA, Tomas KALINA, Karolina KRAMARZOVA, Eva HLAVÁČKOVÁ, Jiří LITZMAN and Eva FRONKOVA. Novel SAMD9 Mutation in a Patient With Immunodeficiency, Neutropenia, Impaired Anti-CMV Response, and Severe Gastrointestinal Involvement. Frontiers in Immunology. LAUSANNE: FRONTIERS MEDIA SA, 2019, vol. 10, SEP 18 2019, p. 1-8. ISSN 1664-3224. Available from: https://dx.doi.org/10.3389/fimmu.2019.02194.
      More: https://is.muni.cz/publication/1572137/en
    23. Safety of recombinant human C1 esterase inhibitor for hereditary angioedema attacks during pregnancy
      MOLDOVAN, Dumitru, Jonathan A. BERNSTEIN, Roman HAKL, Grzegorz POREBSKI, Kimberly POARCH, William R. LUMRY and Anurag RELAN. Safety of recombinant human C1 esterase inhibitor for hereditary angioedema attacks during pregnancy. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE. AMSTERDAM: ELSEVIER, 2019, vol. 7, No 8, p. 2938-2940. ISSN 2213-2198. Available from: https://dx.doi.org/10.1016/j.jaip.2019.05.042.
      More: https://is.muni.cz/publication/1593096/en
    24. SERPING1 exon 3 splicing variants using alternative acceptor splice sites
      GRYMOVÁ, Tereza, Lucie GRODECKÁ, Přemysl SOUČEK and Tomáš FREIBERGER. SERPING1 exon 3 splicing variants using alternative acceptor splice sites. Molecular Immunology. OXFORD: PERGAMON-ELSEVIER SCIENCE LTD, 2019, vol. 107, MAR 2019, p. 91-96. ISSN 0161-5890. Available from: https://dx.doi.org/10.1016/j.molimm.2019.01.007.
      More: https://is.muni.cz/publication/1545814/en
    25. The Impact of DNA Extraction Methods on Stool Bacterial and Fungal Microbiota Community Recovery
      FIEDOROVÁ, Kristýna, Matěj RADVANSKÝ, Eva NĚMCOVÁ, Hana GROMBIŘÍKOVÁ, Juraj BOSÁK, Michaela ČERNOCHOVÁ, Matej LEXA, David ŠMAJS and Tomáš FREIBERGER. The Impact of DNA Extraction Methods on Stool Bacterial and Fungal Microbiota Community Recovery. Frontiers in Microbiology. Lausanne: Frontiers Media SA, 2019, vol. 10, No 821, p. 1-11. ISSN 1664-302X. Available from: https://dx.doi.org/10.3389/fmicb.2019.00821.
      More: https://is.muni.cz/publication/1549527/en
    26. The Impact of the International Cooperation On Familial Hypercholesterolemia Screening and Treatment: Results from the ScreenPro FH Project
      ČEŠKA, Richard, Gustavs LATKOVSKIS, Marat V. EZHOV, Tomáš FREIBERGER, Katarina LALIC, Olena MITCHENKO, Gyorgy PARAGH, Zaneta PETRULIONIENE, Belma POJSKIC, Katarina RASLOVA, Aleksandr B. SHEK, Branislav VOHNOUT, Tereza ALTSCHMIEDOVÁ and Veronika TODOROVOVÁ. The Impact of the International Cooperation On Familial Hypercholesterolemia Screening and Treatment: Results from the ScreenPro FH Project. CURRENT ATHEROSCLEROSIS REPORTS. PHILADELPHIA: CURRENT MEDICINE GROUP, 2019, vol. 21, No 9, p. 1-12. ISSN 1523-3804. Available from: https://dx.doi.org/10.1007/s11883-019-0797-3.
      More: https://is.muni.cz/publication/1551982/en

    2018

    1. Absence of Surface IgD Does Not Impair Naive B Cell Homeostasis or Memory B Cell Formation in IGHD Haploinsufficient Humans
      NECHVÁTALOVÁ, Jana, Sophinus J. W. BARTOL, Zita CHOVANCOVÁ, Louis BOON, Marcela VLKOVÁ and Menno C. van ZELM. Absence of Surface IgD Does Not Impair Naive B Cell Homeostasis or Memory B Cell Formation in IGHD Haploinsufficient Humans. Journal of immunology. Bethesda: American association of immunologists, 2018, vol. 201, No 7, p. 1928-1935. ISSN 0022-1767. Available from: https://dx.doi.org/10.4049/jimmunol.1800767.
      More: https://is.muni.cz/publication/1455936/en
    2. Association of the NOD-like receptor 3 (NLRP3) gene variability with recurrent aphthous stomatitis in the Czech population
      SLEZÁKOVÁ, Simona, Petra BOŘILOVÁ LINHARTOVÁ, Lucie MASOPUSTOVÁ, Jiřina BÁRTOVÁ, Jitka PETANOVÁ, Pavel KUKLÍNEK, Antonín FASSMANN, Ladislav DUŠEK and Lydie IZAKOVIČOVÁ HOLLÁ. Association of the NOD-like receptor 3 (NLRP3) gene variability with recurrent aphthous stomatitis in the Czech population. Journal of Oral Pathology & Medicine. Hoboken: Wiley, 2018, vol. 47, No 4, p. 434-439. ISSN 0904-2512. Available from: https://dx.doi.org/10.1111/jop.12694.
      More: https://is.muni.cz/publication/1416044/en
    3. CEBPE-Mutant Specific Granule Deficiency Correlates With Aberrant Granule Organization and Substantial Proteome Alterations in Neutrophils
      SERWAS, N.K., J. HUEMER, R. DIECKMANN, E. MEJSTRIKOVA, W. GARNCARZ, Jiří LITZMAN, B. HOEGER, O. ZAPLETAL, A. JANDA, K.L. BENNETT, R. KAIN, D. KERJASCHKY and K. BOZTUG. CEBPE-Mutant Specific Granule Deficiency Correlates With Aberrant Granule Organization and Substantial Proteome Alterations in Neutrophils. Frontiers in Immunology. LAUSANNE: FRONTIERS MEDIA SA, 2018, vol. 9, MAR 29 2018, p. 1-15. ISSN 1664-3224. Available from: https://dx.doi.org/10.3389/fimmu.2018.00588.
      More: https://is.muni.cz/publication/1419903/en
    4. ClinVar database of global familial hypercholesterolemia-associated DNA variants
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