Masaryk University

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    2024

    1. A novel thrombocytopenia-4-causing CYCS gene variant decreases caspase activity: Three-generation study
      ŠTIKA, Jiří, Michaela PEŠOVÁ, Kateřina STAŇO KOZUBÍK, Magdalena SKALNÍKOVÁ, Lenka DOSTÁLOVÁ, Tomas LOJA, Lenka RADOVÁ, Veronika PALUŠOVÁ, Kamila RÉBLOVÁ, Zuzana VRZALOVÁ, Ivona BLAHÁKOVÁ, Jakub TRIZULJAK, Stjepan ULDRIJAN, Jan BLATNÝ, Michal ŠMÍDA, Šárka POSPÍŠILOVÁ and Michael DOUBEK. A novel thrombocytopenia-4-causing CYCS gene variant decreases caspase activity: Three-generation study. British journal of haematology. Hoboken: Wiley-Blackwell, 2024, 9 pp. ISSN 0007-1048. Available from: https://dx.doi.org/10.1111/bjh.19694.
      More: https://is.muni.cz/publication/2430437/en
    2. Del(1p32) is an early and high-risk event in multiple myeloma patients with extraosseous disease
      ŠTORK, Martin, Eva ONDROUŠKOVÁ, Michaela BOHÚNOVÁ, Ivanna BOICHUK, Dominik FRIČ, Zdeněk ADAM, Marta KREJČÍ, Viera SANDECKÁ, Zdeňka KNECHTOVÁ, Lenka RADOVÁ, Zuzana JELÍNKOVÁ, Taťána ADLEROVÁ, Milan KRTIČKA, Vladimír NEKUDA, Marek BORSKÝ, Sabina ŠEVČÍKOVÁ, Marie JAROŠOVÁ and Luděk POUR. Del(1p32) is an early and high-risk event in multiple myeloma patients with extraosseous disease. Blood Cancer Journal. LONDON: SPRINGERNATURE, 2024, vol. 14, No 1, p. 1-3. ISSN 2044-5385. Available from: https://dx.doi.org/10.1038/s41408-024-01131-6.
      More: https://is.muni.cz/publication/2427897/en
    3. Efficacy of ixazomib, lenalidomide, dexamethasone regimen in daratumumab-exposed relapsed/refractory multiple myeloma patients: A retrospective analysis
      FRIČ, Dominik, Martin ŠTORK, Ivanna BOICHUK, Viera SANDECKÁ, Zdeněk ADAM, Marta KREJČÍ, Eva ONDROUŠKOVÁ, Anna FIDRICHOVA, Lenka RADOVÁ, Zdeňka KNECHTOVÁ, Marie JAROŠOVÁ and Luděk POUR. Efficacy of ixazomib, lenalidomide, dexamethasone regimen in daratumumab-exposed relapsed/refractory multiple myeloma patients: A retrospective analysis. European Journal of Haematology. Hoboken: Wiley-Blackwell, 2024, 7 pp. ISSN 0902-4441. Available from: https://dx.doi.org/10.1111/ejh.14292.
      More: https://is.muni.cz/publication/2431577/en
    4. ERIC recommendations for TP53 mutation analysis in chronic lymphocytic leukemia-2024 update
      MALČÍKOVÁ, Jitka, Šárka PAVLOVÁ, Panagiotis BALIAKAS, Thomas CHATZIKONSTANTINOU, Eugen TAUSCH, Mark CATHERWOOD, Davide ROSSI, Thierry SOUSSI, Boris TICHY, Arnon P KATER, Carsten U NIEMANN, Frederic DAVI, Gianluca GAIDANO, Stephan STILGENBAUER, Richard ROSENQUIST, Kostas STAMATOPOULOS, Paolo GHIA and Šárka POSPÍŠILOVÁ. ERIC recommendations for TP53 mutation analysis in chronic lymphocytic leukemia-2024 update. Leukemia. London: Nature Publishing Group, 2024, 14 pp. ISSN 0887-6924. Available from: https://dx.doi.org/10.1038/s41375-024-02267-x.
      More: https://is.muni.cz/publication/2409843/en
    5. Impact of thrombocytopenia-associated c.-118C>T and c.-140C>G ANKRD26 5’UTR variants in three-generational pedigree
      TRIZULJAK, Jakub, Paulína LIKAVCOVÁ, Kateřina STAŇO KOZUBÍK, Zuzana VRZALOVÁ, Jakub HYNŠT, Tereza DEISSOVÁ, Jiří ŠTIKA, Lenka RADOVÁ, Marie PRUDKOVÁ, Jana VACULOVA, Ivona BLAHÁKOVÁ, Petr SMEJKAL, Jan KAMELANDER, Šárka POSPÍŠILOVÁ and Michael DOUBEK. Impact of thrombocytopenia-associated c.-118C>T and c.-140C>G ANKRD26 5’UTR variants in three-generational pedigree. Platelets. PHILADELPHIA: TAYLOR & FRANCIS INC, 2024, vol. 35, No 1, p. 1-6. ISSN 0953-7104. Available from: https://dx.doi.org/10.1080/09537104.2024.2388103.
      More: https://is.muni.cz/publication/2431581/en
    6. Integrative NGS testing reveals clonal dynamics of adverse genomic defects contributing to a natural progression in treatment-naïve CLL patients
      NAVRKALOVÁ, Veronika, Karla PLEVOVÁ, Lenka RADOVÁ, Jakub Paweł PORC, Karol PÁL, Jitka MALČÍKOVÁ, Šárka PAVLOVÁ, Michael DOUBEK, Anna PANOVSKÁ, Jana KOTAŠKOVÁ and Šárka POSPÍŠILOVÁ. Integrative NGS testing reveals clonal dynamics of adverse genomic defects contributing to a natural progression in treatment-naïve CLL patients. British journal of haematology. Hoboken: Wiley-Blackwell, 2024, vol. 204, No 1, p. 240-249. ISSN 0007-1048. Available from: https://dx.doi.org/10.1111/bjh.19191.
      More: https://is.muni.cz/publication/2372237/en
    7. Precision immuno-oncology approach for four malignant tumors in siblings with constitutional mismatch repair deficiency syndrome
      PÁLOVÁ, Hana, Anirban DAS, Petra POKORNÁ, Viera BAJČIOVÁ, Zdenek PAVELKA, Marta JEŽOVÁ, Karol PÁL, Jose R DIMAYACYAC, Logine NEGM, Lucie STENGS, Vanessa BIANCHI, Klára VEJMĚLKOVÁ, Kristýna NOSKOVÁ, Marie JAROŠOVÁ, Soňa MEJSTŘÍKOVÁ, Peter MÚDRY, Michal KÝR, Tomáš MERTA, Pavel TINKA, Klára DRÁBOVÁ, Štefánia AULICKÁ, Robin JUGAS, Uri TABORI, Ondřej SLABÝ and Jaroslav ŠTĚRBA. Precision immuno-oncology approach for four malignant tumors in siblings with constitutional mismatch repair deficiency syndrome. NPJ PRECISION ONCOLOGY. Belin: NATURE PORTFOLIO, 2024, vol. 8, No 1, p. 1-9. ISSN 2397-768X. Available from: https://dx.doi.org/10.1038/s41698-024-00597-8.
      More: https://is.muni.cz/publication/2409797/en
    8. Realizing precision medicine in chronic lymphocytic leukemia: Remaining challenges and potential opportunities
      STAMATOPOULOS, Kostas, Šárka PAVLOVÁ, Othman AL-SAWAF, Thomas CHATZIKONSTANTINOU, Christina KARAMANIDOU, Gianluca GAIDANO, Florence CYMBALISTA, Arnon P KATER, Andy RAWSTRON, Lydia SCARFO, Paolo GHIA and Richard ROSENQUIST. Realizing precision medicine in chronic lymphocytic leukemia: Remaining challenges and potential opportunities. HemaSphere. Philadelphia: Lippincott Williams & Wilkins, 2024, vol. 8, No 7, p. 1-12. ISSN 2572-9241. Available from: https://dx.doi.org/10.1002/hem3.113.
      More: https://is.muni.cz/publication/2421701/en
    9. 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
    10. STAT3 couples activated tyrosine kinase signaling to the oncogenic core transcriptional regulatory circuitry of anaplastic large cell lymphoma
      PRUTSCH, Nicole, Shuning HE, Alla BEREZOVSKAYA, Adam D DURBIN, Neekesh V DHARIA, Kelsey A MAHER, Jamie D MATTHEWS, Lucy HARE, Suzanne Dawn TURNER, Kimberly STEGMAIER, Lukas KENNER, Olaf MERKEL, A Thomas LOOK, Brian J ABRAHAM and Mark W ZIMMERMAN. STAT3 couples activated tyrosine kinase signaling to the oncogenic core transcriptional regulatory circuitry of anaplastic large cell lymphoma. CELL REPORTS MEDICINE. AMSTERDAM: ELSEVIER, 2024, vol. 5, No 3, p. 1-20. ISSN 2666-3791. Available from: https://dx.doi.org/10.1016/j.xcrm.2024.101472.
      More: https://is.muni.cz/publication/2409575/en
    11. Targeting NRAS via miR-1304-5p or farnesyltransferase inhibition confers sensitivity to ALK inhibitors in ALK-mutant neuroblastoma
      PUCCI, Perla, Liam C LEE, Miaojun HAN, Jamie D MATTHEWS, Leila JAHANGIRI, Michaela SCHLEDERER, Eleanor MANNERS, Annabel SORBY-ADAMS, Joshua KAGGIE, Ricky M TRIGG, Christopher STEEL, Lucy HARE, Emily R JAMES, Nina PROKOPH, Stephen P DUCRAY, Olaf MERKEL, Firkret RIFATBEGOVIC, Ji LUO, Sabine TASCHNER-MANDL, Lukas KENNER, G A Amos BURKE and Suzanne Dawn TURNER. Targeting NRAS via miR-1304-5p or farnesyltransferase inhibition confers sensitivity to ALK inhibitors in ALK-mutant neuroblastoma. Nature Communications. Berlin: Nature, 2024, vol. 15, No 1, p. 1-19. ISSN 2041-1723. Available from: https://dx.doi.org/10.1038/s41467-024-47771-x.
      More: https://is.muni.cz/publication/2407619/en
    12. The non-canonical BAF chromatin remodeling complex is a novel target of spliceosome dysregulation in SF3B1-mutated chronic lymphocytic leukemia
      HAGERSTRAND, Daniel, Blaz ODER, Diego CORTESE, Ying QU, Amrei BINZER-PANCHAL, Cecilia OSTERHOLM, Teresa Del Peso SANTOS, Leily RABBANI, Hassan Foroughi ASL, Aron SKAFTASON, Viktor LJUNGSTROM, August LUNDHOLM, Maria KOUTROUMANI, Zahra HAIDER, Cecilia JYLHA, John MOLLSTEDT, Larry MANSOURI, Karla PLEVOVÁ, Andreas AGATHANGELIDIS, Lydia SCARFO, Marine ARMAND, Alice F MUGGEN, Neil E KAY, Tait SHANAFELT, Davide ROSSI, Lukas M ORRE, Šárka POSPÍŠILOVÁ, Konstantin BARYLYUK, Frederic DAVI, Mattias VESTERLUND, Anton W LANGERAK, Janne LEHTIO, Paolo GHIA, Kostas STAMATOPOULOS, Lesley-Ann SUTTON and Richard ROSENQUIST. The non-canonical BAF chromatin remodeling complex is a novel target of spliceosome dysregulation in SF3B1-mutated chronic lymphocytic leukemia. Leukemia. LONDON: SPRINGERNATUR, 2024, 14 pp. ISSN 0887-6924. Available from: https://dx.doi.org/10.1038/s41375-024-02379-4.
      More: https://is.muni.cz/publication/2447550/en
    13. The yield of a comprehensive investigation protocol for the diagnosis of true idiopathic ventricular fibrillation in a real-life clinical setting
      LIETAVA, Samuel, Milan SEPŠI, Jana ZÍDKOVÁ, Iva SYNKOVÁ, Milan KOZÁK, Lubomír KŘIVAN, Jitka VLAŠÍNOVÁ, Svatopluk RICHTER, Jan REHOR, Petr KALA, Markéta BÉBAROVÁ and Tomáš NOVOTNÝ. The yield of a comprehensive investigation protocol for the diagnosis of true idiopathic ventricular fibrillation in a real-life clinical setting. Scientific Reports. BERLIN: NATURE PORTFOLIO, 2024, vol. 14, No 1, p. 1-8. ISSN 2045-2322. Available from: https://dx.doi.org/10.1038/s41598-024-64513-7.
      More: https://is.muni.cz/publication/2418613/en
    14. Unveiling the dynamics and molecular landscape of a rare chronic lymphocytic leukemia subpopulation driving refractoriness: insights from single-cell RNA sequencing
      KURUCOVÁ, Terézia, Kamila RÉBLOVÁ, Pavlína JANOVSKÁ, Jakub Paweł PORC, Veronika NAVRKALOVÁ, Šárka PAVLOVÁ, Jitka MALČÍKOVÁ, Karla PLEVOVÁ, Boris TICHÝ, Michael DOUBEK, Vítězslav BRYJA, Jana KOTAŠKOVÁ and Šárka POSPÍŠILOVÁ. Unveiling the dynamics and molecular landscape of a rare chronic lymphocytic leukemia subpopulation driving refractoriness: insights from single-cell RNA sequencing. Molecular oncology. Hoboken: Wiley, 2024, 13 pp. ISSN 1574-7891. Available from: https://dx.doi.org/10.1002/1878-0261.13663.
      More: https://is.muni.cz/publication/2407762/en

    2023

    1. Cerebral organoids derived from patients with Alzheimer´s disease with PSEN1/2 mutations have defective tissue patterning and altered development
      VÁŇOVÁ, Tereza, Jiří SEDMÍK, Jan RAŠKA, Kateřina AMRUZ ČERNÁ, Petr TAUŠ, Veronika POSPÍŠILOVÁ, Markéta NEZVEDOVÁ, Veronika FEDOROVÁ, Soňa KADÁKOVÁ, Hana KLÍMOVÁ, Michaela CAPANDOVÁ, Petra ORVISKÁ, Petr FOJTÍK, Simona BÁRTOVÁ, Karla PLEVOVÁ, Zdeněk SPÁČIL, Hana HŘÍBKOVÁ and Dáša BOHAČIAKOVÁ. Cerebral organoids derived from patients with Alzheimer´s disease with PSEN1/2 mutations have defective tissue patterning and altered development. CELL REPORTS. CAMBRIDGE: CELL PRESS, 2023, vol. 42, No 11, p. 1-27. ISSN 2211-1247. Available from: https://dx.doi.org/10.1016/j.celrep.2023.113310.
      More: https://is.muni.cz/publication/2329980/en
    2. Distinct p53 phosphorylation patterns in chronic lymphocytic leukemia patients are reflected in the activation of circumjacent pathways upon DNA damage
      MANČÍKOVÁ, Veronika, Michaela PEŠOVÁ, Šárka PAVLOVÁ, Robert HELMA, Kristýna ZÁVACKÁ, Václav HEJRET, Petr TAUŠ, Jakub HYNŠT, Karla PLEVOVÁ, Jitka MALČÍKOVÁ and Šárka POSPÍŠILOVÁ. Distinct p53 phosphorylation patterns in chronic lymphocytic leukemia patients are reflected in the activation of circumjacent pathways upon DNA damage. MOLECULAR ONCOLOGY. ENGLAND: WILEY, 2023, vol. 17, No 1, p. 82-97. ISSN 1574-7891. Available from: https://dx.doi.org/10.1002/1878-0261.13337.
      More: https://is.muni.cz/publication/2239430/en
    3. Extensive, 3.8 Mb-Sized Deletion of 22q12 in a Patient with Bilateral Schwannoma, Intellectual Disability, Sensorineural Hearing Loss, and Epilepsy
      TRIZULJAK, Jakub, Jakub DUBEN, Ivona BLAHÁKOVÁ, Zuzana VRZALOVÁ, Kateřina STAŇO KOZUBÍK, Jiří ŠTIKA, Lenka RADOVÁ, Veronika BERGEROVÁ, Soňa MEJSTŘÍKOVÁ, Věra HOŘÍNOVÁ, Radim JANČÁLEK, Šárka POSPÍŠILOVÁ and Michael DOUBEK. Extensive, 3.8 Mb-Sized Deletion of 22q12 in a Patient with Bilateral Schwannoma, Intellectual Disability, Sensorineural Hearing Loss, and Epilepsy. Molecular Syndromology. Basel: S. Karger, 2023, vol. 14, No 5, p. 439-448. ISSN 1661-8769. Available from: https://dx.doi.org/10.1159/000528744.
      More: https://is.muni.cz/publication/2339257/en
    4. Genetic findings in Czech patients with limb girdle muscular dystrophy
      ZÍDKOVÁ, Jana, Tereza KRAMÁŘOVÁ, Johana KOPČILOVÁ, Kamila RÉBLOVÁ, Jana HABERLOVÁ, Radim MAZANEC, Stanislav VOHÁŇKA, Andrea GŘEGOŘOVÁ, Martina LANGOVÁ, Tomáš HONZÍK, Jana ŠOUKALOVÁ, Hana OŠLEJŠKOVÁ, Pavla SOLAŘOVÁ, Emilie VYHNÁLKOVÁ and Lenka FAJKUSOVÁ. Genetic findings in Czech patients with limb girdle muscular dystrophy. Clinical Genetics. Hoboken: Wiley, 2023, vol. 104, No 5, p. 542-553. ISSN 0009-9163. Available from: https://dx.doi.org/10.1111/cge.14407.
      More: https://is.muni.cz/publication/2355821/en
    5. Germline variant of CTC1 gene in a patient with pulmonary fibrosis and myelodysplastic syndrome
      DOUBKOVÁ, Martina, Zuzana VRZALOVÁ, Marianna ŠTEFÁNIKOVÁ, Libor ČERVINEK, Kateřina STAŇO KOZUBÍK, Ivona BLAHÁKOVÁ, Šárka POSPÍŠILOVÁ and Michael DOUBEK. Germline variant of CTC1 gene in a patient with pulmonary fibrosis and myelodysplastic syndrome. MULTIDISCIPLINARY RESPIRATORY MEDICINE. PAVIA: PAGEPRESS PUBL, 2023, vol. 18, June 2023, p. 1-5. ISSN 1828-695X. Available from: https://dx.doi.org/10.4081/mrm.2023.909.
      More: https://is.muni.cz/publication/2297217/en
    6. Mast cell leukemia: clinical and molecular features and survival outcomes of patients in the ECNM Registry
      KENNEDY, Vanessa E, Cecelia PERKINS, Andreas REITER, Mohamad JAWHAR, Johannes LUEBKE, Hanneke C KLUIN-NELEMANS, William SHOMALI, Cheryl LANGFORD, Justin ABUEL, Olivier HERMINE, Marek NIEDOSZYTKO, Aleksandra GORSKA, Andrzej MITAL, Patrizia BONADONNA, Roberta ZANOTTI, Ilaria TANASI, Mattias MATTSSON, Hans HAGGLUND, Massimo TRIGGIANI, Akif Selim YAVUZ, Jens PANSE, Deborah CHRISTEN, Marc HEIZMANN, Khalid SHOUMARIYEH, Sabine MUELLER, Chiara ELENA, Luca MALCOVATI, Nicolas FIORELLI, Friederike WORTMANN, Vladan VUCINIC, Knut BROCKOW, Christos FOKOLOROS, Sotirios G PAPAGEORGIOU, Christine BREYNAERT, Dominique BULLENS, Michael DOUBEK, Anja ILERHAUS, Irena ANGELOVA-FISCHER, Oleksii SOLOMIANYI, Judit VARKONYI, Vito SABATO, Axel RUEFER, Tanja Daniela SCHUG, Maud A W HERMANS, Anna Belloni FORTINA, Francesca CAROPPO, Horia BUMBEA, Theo GULEN, Karin HARTMANN, Hanneke Oude ELBERINK, Juliana SCHWAAB, Michel AROCK, Peter VALENT, Wolfgang R SPERR and Jason GOTLIB. Mast cell leukemia: clinical and molecular features and survival outcomes of patients in the ECNM Registry. Blood advances. AMSTERDAM: ELSEVIER, 2023, vol. 7, No 9, p. 1713-1724. ISSN 2473-9529. Available from: https://dx.doi.org/10.1182/bloodadvances.2022008292.
      More: https://is.muni.cz/publication/2301603/en
    7. Patient-derived xenograft models of ALK plus ALCL reveal preclinical promise for therapy with brigatinib
      PROKOPH, Nina, Jamie D MATTHEWS, Ricky M TRIGG, Ivonne A MONTES-MOJARRO, G A Amos BURKE, Falko FEND, Olaf MERKEL, Lukas KENNER, Birgit GEOERGER, Robert JOHNSTON, Matthew J MURRAY, Charlotte RIGUAD, Laurence BRUGIERES and Suzanne Dawn TURNER. Patient-derived xenograft models of ALK plus ALCL reveal preclinical promise for therapy with brigatinib. British journal of haematology. Hoboken: Wiley-Blackwell, 2023, vol. 20, No 5, p. 985-994. ISSN 0007-1048. Available from: https://dx.doi.org/10.1111/bjh.18953.
      More: https://is.muni.cz/publication/2368982/en
    8. Prognostic Impact of Organomegaly in Mastocytosis: An Analysis of the European Competence Network on Mastocytosis
      LUEBKE, Johannes, Juliana SCHWAAB, Deborah CHRISTEN, Hanneke Oude ELBERINK, Bart SPAN, Marek NIEDOSZYTKO, Aleksandra GORSKA, Magdalena LANGE, Karoline V GLEIXNER, Emir HADZIJUSUFOVIC, Oleksii SOLOMIANYI, Irena ANGELOVA-FISCHER, Roberta ZANOTTI, Massimiliano BONIFACIO, Patrizia BONADONNA, Khalid SHOUMARIYEH, von Bubnoff NIKOLAS, Sabine MUELLER, Cecelia PERKINS, Chiara ELENA, Luca MALCOVATI, Hans HAGGLUND, Mattias MATTSSON, Roberta PARENTE, Judit VARKONYI, Anna Belloni FORTINA, Francesca CAROPPO, Alexander ZINK, Knut BROCKOW, Christine BREYNAERT, Dominique BULLENS, Akif Selim YAVUZ, Michael DOUBEK, Vito SABATO, Tanja SCHUG, Dietger NIEDERWIESER, Karin HARTMANN, Massimo TRIGGIANI, Jason GOTLIB, Olivier HERMINE, Michel AROCK, Hanneke C KLUIN-NELEMANS, Jens PANSE, Wolfgang R SPERR, Peter VALENT, Andreas REITER and Mohamad JAWHAR. Prognostic Impact of Organomegaly in Mastocytosis: An Analysis of the European Competence Network on Mastocytosis. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY-IN PRACTICE. AMSTERDAM: ELSEVIER, 2023, vol. 11, No 2, p. 581-595. ISSN 2213-2198. Available from: https://dx.doi.org/10.1016/j.jaip.2022.10.051.
      More: https://is.muni.cz/publication/2365494/en
    9. První český pacient s deficitem aminoacylázy 1 (The first Czech patient with aminoacylase I deficiency)
      PROCHÁZKOVÁ, Dagmar, Romana BORSKÁ, Petr CHRASTINA, Lenka FAJKUSOVÁ, Petra KONEČNÁ, Kateřina SLABÁ, Jan ŠENKYŘÍK, Karolína PEŠKOVÁ, Petr JABANDŽIEV and Tomáš HONZÍK. První český pacient s deficitem aminoacylázy 1 (The first Czech patient with aminoacylase I deficiency). CESKA A SLOVENSKA NEUROLOGIE A NEUROCHIRURGIE. CZECH REPUBLIC: CZECH MEDICAL SOC, 2023, vol. 86, No 1, p. 83-85. ISSN 1210-7859. Available from: https://dx.doi.org/10.48095/cccsnn202383.
      More: https://is.muni.cz/publication/2267718/en
    10. STAT3/LKB1 controls metastatic prostate cancer by regulating mTORC1/CREB pathway
      PENCIK, Jan, Cecile PHILIPPE, Michaela SCHLEDERER, Emine ATAS, Matteo PECORARO, Sandra GRUND-GROESCHKE, Wen LI, Amanda TRACZ, Isabel HEIDEGGER, Sabine LAGGER, Karolína TRACHTOVÁ, Monika OBERHUBER, Ellen HEITZER, Osman AKSOY, Heidi A NEUBAUER, Bettina WINGELHOFER, Anna ORLOVA, Nadine WITZENEDER, Thomas DILLINGER, Elisa REDL, Georg GREINER, Andrea DAVID, Johnny R OSTMAN, Simone TANGERMANN, Ivana HERMANOVA, Georg SCHAEFER, Felix STERNBERG, Elena E POHL, Christina STERNBERG, Adam VARADY, Jaqueline HORVATH, Dagmar STOIBER, Tim I MALCOLM, Suzanne Dawn TURNER, Eileen E PARKES, Brigitte HANTUSCH, Gerda EGGER, Stefan ROSE-JOHN, Valeria POLI, Suneil JAIN, Chris W D ARMSTRONG, Gregor HOERMANN, Vincent GOFFIN, Fritz ABERGER, Richard MORIGGL, Arkaitz CARRACEDO, Cathal MCKINNEY, Richard D KENNEDY, Helmut KLOCKER, Michael R SPEICHER, Dean G TANG, Ali A MOAZZAMI, David M HEERY, Marcus HACKER and Lukas KENNER. STAT3/LKB1 controls metastatic prostate cancer by regulating mTORC1/CREB pathway. Molecular Cancer. LONDON: BioMed Central Ltd, 2023, vol. 22, No 1, p. 1-25. ISSN 1476-4598. Available from: https://dx.doi.org/10.1186/s12943-023-01825-8.
      More: https://is.muni.cz/publication/2375278/en
    11. Targeting CCR7-PI3Kγ overcomes resistance to tyrosine kinase inhibitors in ALK-rearranged lymphoma
      MASTINI, Cristina, Marco CAMPISI, Enrico PATRUCCO, Giulia MURA, Antonio FERREIRA, Carlotta COSTA, Chiara AMBROGIO, Giulia GERMENA, Cinzia MARTINENGO, Silvia PEOLA, Ines MOTA, Elena VISSIO, Luca MOLINARO, Maddalena ARIGONI, Martina OLIVERO, Raffaele CALOGERO, Nina PROKOPH, Fabrizio TABBO, Brent SHOJI, Laurence BRUGIERES, Birgit GEOERGER, Suzanne Dawn TURNER, Carlos CUESTA-MATEOS, Deborah ALIBERTI, Luca MOLOGNI, Rocco PIAZZA, Carlo GAMBACORTI-PASSERINI, Giorgio G INGHIRAMI, Valeria CHIONO, Roger D KAMM, Emilio HIRSCH, Raphael KOCH, David M WEINSTOCK, Jon C ASTER, Claudia VOENA and Roberto CHIARLE. Targeting CCR7-PI3Kγ overcomes resistance to tyrosine kinase inhibitors in ALK-rearranged lymphoma. Science Translational Medicine. Washington: American Association for the Advancement of Science, 2023, vol. 15, No 702, p. 1-17. ISSN 1946-6234. Available from: https://dx.doi.org/10.1126/scitranslmed.abo3826.
      More: https://is.muni.cz/publication/2339258/en
    12. The evolving landscape of COVID-19 and post-COVID condition in patients with chronic lymphocytic leukemia: A study by ERIC, the European research initiative on CLL
      VISENTIN, Andrea, Thomas CHATZIKONSTANTINOU, Lydia SCARFÒ, Anargyros KAPETANAKIS, Christos DEMOSTHENOUS, Georgios KARAKATSOULIS, Eva MINGA, Dimitra CHAMOU, David ALLSUP, Alejandro Alonso CABRERO, Martin ANDRES, Darko ANTIC, Mónica BAILE, Panagiotis BALIAKAS, Sotiria BESIKLI-DIMOU, Dominique BRON, Sofia CHATZILEONTIADOU, Raul CORDOBA, Correa JUAN-GONZALO, Carolina CUÉLLAR-GARCÍA, Lorenzo De PAOLI, Maria Rosaria De PAOLIS, Julio DELGADO, Maria DIMOU, David DONALDSON, Mark CATHERWOOD, Michael DOUBEK, Maria EFSTATHOPOULOU, Barbara EICHHORST, Salma ELASHWAH, Alicia ENRICO, Blanca ESPINET, Lucia FARINA, Angela FERRARI, Myriam FOGLIETTA, Henrik FREDERIKSEN, Moritz FÜRSTENAU, José A GARCÍA-MARCO, Rocío GARCÍA-SERRA, Rosa COLLADO, Massimo GENTILE, Eva GIMENO, Andreas GLENTHØJ, Maria Gomes da SILVA, Yervand K HAKOBYAN, Yair HERISHANU, José Ángel HERNÁNDEZ-RIVAS, Tobias HEROLD, Idanna INNOCENTI, Gilad ITCHAKI, Ozren JAKSIC, Ann JANSSENS, Оlga B KALASHNIKOVA, Elżbieta KALICIŃSKA, Arnon P KATER, Sabina KERSTING, Jorge LABRADOR, Deepesh LAD, Luca LAURENTI, Levin MARK-DAVID, Enrico LISTA, Alberto LOPEZ-GARCIA, Lara MALERBA, Roberto MARASCA, Monia MARCHETTI, Juan MARQUET, Mattias MATTSSON, Francesca R MAURO, Marta MORAWSKA, Marina MOTTA, Talha MUNIR, Roberta MURRU, Carsten U NIEMANN, Raquel Nunes RODRIGUES, Jacopo OLIVIERI, Lorella ORSUCCI, Maria PAPAIOANNOU, Miguel Arturo PAVLOVSKY, Inga PISKUNOVA, Viola Maria POPOV, Francesca Maria QUAGLIA, Giulia QUARESMINI, Kristian QVIST, Gian Matteo RIGOLIN, Rosa RUCHLEMER, Martin ŠIMKOVIČ, Martin ŠPAČEK, Paolo SPORTOLETTI, Oana STANCA, Tamar TADMOR, Antonella CAPASSO, Giovanni Del POETA, Odit GUTWEIN, Linda Katharina KARLSSON, Ivana MILOSEVIC, Fatima MIRÁS, Gianluigi REDA, Gevorg SAGHUMYAN, Amit SHRESTHA, Doreen Te RAA, Sanne H TONINO, Ellen Van Der SPEK, Michel van GELDER, Roel van KAMPEN, Ewa WASIK-SZCZEPANEK, Tomasz WRÓBEL, Lucrecia Yáñez San SEGUNDO, Mohamed YASSIN, Barbara POCALI, Elisabeth VANDENBERGHE, Sunil IYENGAR, Marzia VARETTONI, Candida VITALE, Marta COSCIA, Alessandro RAMBALDI, Emili MONTSERRAT, Antonio CUNEO, Niki STAVROYIANNI, Livio TRENTIN, Kostas STAMATOPOULOS and Paolo GHIA. The evolving landscape of COVID-19 and post-COVID condition in patients with chronic lymphocytic leukemia: A study by ERIC, the European research initiative on CLL. American Journal of Hematology. Hoboken: Wiley-Blackwell, 2023, vol. 98, No 12, p. 1856-1868. ISSN 0361-8609. Available from: https://dx.doi.org/10.1002/ajh.27093.
      More: https://is.muni.cz/publication/2365493/en
    13. Two sisters with cardiac-urogenital syndrome secondary to pathogenic splicing variant in the MYRF gene with unaffected parents: A case of gonadal mosaicism?
      SLABÁ, Kateřina, Marta JEŽOVÁ, Petra POKORNÁ, Hana PÁLOVÁ, Jana TUČKOVÁ, Jan PAPEŽ, Dagmar PROCHÁZKOVÁ, Petr JABANDŽIEV and Ondřej SLABÝ. Two sisters with cardiac-urogenital syndrome secondary to pathogenic splicing variant in the MYRF gene with unaffected parents: A case of gonadal mosaicism? MOLECULAR GENETICS & GENOMIC MEDICINE. Hoboken: Wiley, 2023, vol. 11, No 5, p. 1-7. ISSN 2324-9269. Available from: https://dx.doi.org/10.1002/mgg3.2139.
      More: https://is.muni.cz/publication/2267901/en
    14. 20 let diagnostiky maligní hypertermie v České a Slovenské republice. (20 years of malignant hyperthermia in Czechia and Slovakia)
      KLINCOVÁ, Martina, Dagmar ŠTĚPÁNKOVÁ, Ivana SCHRÖDEROVÁ, Eva KLABUSAYOVÁ, Edita OŠŤÁDALOVÁ, Iveta VALÁŠKOVÁ, Lenka FAJKUSOVÁ, Jana ZÍDKOVÁ, Renata GAILLYOVÁ and Petr ŠTOURAČ. 20 let diagnostiky maligní hypertermie v České a Slovenské republice. (20 years of malignant hyperthermia in Czechia and Slovakia). ANESTEZIOLOGIE A INTENZIVNI MEDICINA. CZECH REPUBLIC: NAKLADATELSKE STREDISKO C L S J E PURKYNE, 2023, vol. 34, No 3, p. 103-109. ISSN 1214-2158. Available from: https://dx.doi.org/10.36290/aim.2023.045.
      More: https://is.muni.cz/publication/2362998/en

    2022

    1. A GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome
      SKALNÍKOVÁ, Magdalena, Kateřina STAŇO KOZUBÍK, Jakub TRIZULJAK, Zuzana VRZALOVÁ, Lenka RADOVÁ, Kamila RÉBLOVÁ, Radka HOLBOVÁ, Terézia KURUCOVÁ, Hana SVOZILOVÁ, Jiří ŠTIKA, Ivona BLAHÁKOVÁ, Barbara DVOŘÁČKOVÁ, Marie PRUDKOVÁ, Olga STEHLÍKOVÁ, Michal ŠMÍDA, Leoš KŘEN, Petr SMEJKAL, Šárka POSPÍŠILOVÁ and Michael DOUBEK. A GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome. International Journal of Molecular Sciences. Basel: Multidisciplinary Digital Publishing Institute, 2022, vol. 23, No 2, p. 1-13. ISSN 1422-0067. Available from: https://dx.doi.org/10.3390/ijms23020885.
      More: https://is.muni.cz/publication/1863063/en
    2. Achalasia and acromegaly: co-incidence of these diseases or a new syndrome?
      DOLINA, Jiří, Lumír KUNOVSKÝ, Radek KROUPA, Karel STARÝ, Petr JABANDŽIEV, Tereza NEŠPOROVÁ, Karel MÁCA, Tomáš ANDRAŠINA, Filip MAREK, Zdeněk KALA, Jitka VACULOVÁ, Dávid SAID, Martina ZAPLETALOVÁ, Jan LOCHMAN, Hana PÁLOVÁ, Ondřej SLABÝ, Lydie IZAKOVIČOVÁ HOLLÁ and Petra BOŘILOVÁ LINHARTOVÁ. Achalasia and acromegaly: co-incidence of these diseases or a new syndrome? Biomedical Papers. Olomouc: Palacký University Olomouc, Faculty of Medicine and Dentistry, 2022, vol. 166, No 2, p. 228-235. ISSN 1213-8118. Available from: https://dx.doi.org/10.5507/bp.2021.040.
      More: https://is.muni.cz/publication/1786617/en
    3. Clonal haematopoiesis as a risk factor for therapy-related myeloid neoplasms in patients with chronic lymphocytic leukaemia treated with chemo-(immuno)therapy
      VOSO, Maria-Teresa, Tatjana PANDZIC, Giulia FALCONI, Marija DENCIC-FEKETE, De Bellis ELEONORA, Lydia SCARFO, Viktor LJUNGSTROM, Michail ISKAS, Del Poeta GIOVANNI, Pamela RANGHETTI, Stamatia LAIDOU, Antonio CRISTIANO, Karla PLEVOVÁ, Silvia IMBERGAMO, Marie ENGVALL, Antonella ZUCCHETTO, Chiara SALVETTI, Francesca R MAURO, Niki STAVROYIANNI, Lucia CAVELIER, Paolo GHIA, Kostas STAMATOPOULOS, Emiliano FABIANI and Panagiotis BALIAKAS. Clonal haematopoiesis as a risk factor for therapy-related myeloid neoplasms in patients with chronic lymphocytic leukaemia treated with chemo-(immuno)therapy. British journal of haematology. England: Wiley-Blackwell, 2022, vol. 198, No 1, p. 103-113. ISSN 0007-1048. Available from: https://dx.doi.org/10.1111/bjh.18129.
      More: https://is.muni.cz/publication/2211023/en
    4. Cytogenetics in Chronic Lymphocytic Leukemia: ERIC Perspectives and Recommendations
      BALIAKAS, Panagiotis, Blanca ESPINET, Clemens MELLINK, Marie JAROŠOVÁ, Anastasia ATHANASIADOU, Paolo GHIA, Arnon P KATER, David OSCIER, Claudia HAFERLACH and Kostas STAMATOPOULOS. Cytogenetics in Chronic Lymphocytic Leukemia: ERIC Perspectives and Recommendations. HemaSphere. Philadelphia: Lippincott Williams & Wilkins, 2022, vol. 6, No 4, p. 1-7. ISSN 2572-9241. Available from: https://dx.doi.org/10.1097/HS9.0000000000000707.
      More: https://is.muni.cz/publication/2211017/en
    5. Duplication of 8q24 in Chronic Lymphocytic Leukemia: Cytogenetic and Molecular Biologic Analysis of MYC Aberrations
      ONDROUŠKOVÁ, Eva, Michaela BOHÚNOVÁ, Kristýna ZÁVACKÁ, Patrik ČECH, Petra ŠMUHAŘOVÁ, Miroslav BOUDNÝ, Martina ORŠULOVÁ, Anna PANOVSKÁ, Lenka RADOVÁ, Michael DOUBEK, Karla PLEVOVÁ and Marie JAROŠOVÁ. Duplication of 8q24 in Chronic Lymphocytic Leukemia: Cytogenetic and Molecular Biologic Analysis of MYC Aberrations. Frontiers in Oncology. Lausanne: Frontiers Media S.A., 2022, vol. 12, June 2022, p. 1-11. ISSN 2234-943X. Available from: https://dx.doi.org/10.3389/fonc.2022.859618.
      More: https://is.muni.cz/publication/2211030/en
    6. Evolution of TP53 abnormalities during CLL disease course is associated with telomere length changes
      OLBERTOVÁ, Helena, Karla PLEVOVÁ, Šárka PAVLOVÁ, Jitka MALCIKOVA, Jana KOTAŠKOVÁ, Kamila STRÁNSKÁ, Michaela ŠPUNAROVÁ, Martin TRBUŠEK, Veronika NAVRKALOVÁ, Barbara DVOŘÁČKOVÁ, Nikola TOM, Karol PÁL, Marie JAROŠOVÁ, Yvona BRYCHTOVÁ, Anna PANOVSKÁ, Michael DOUBEK and Šárka POSPÍŠILOVÁ. Evolution of TP53 abnormalities during CLL disease course is associated with telomere length changes. BMC Cancer. London: BMC, 2022, vol. 22, No 1, p. 1-11. ISSN 1471-2407. Available from: https://dx.doi.org/10.1186/s12885-022-09221-z.
      More: https://is.muni.cz/publication/2245079/en
    7. Impact of the Types and Relative Quantities of IGHV Gene Mutations in Predicting Prognosis of Patients With Chronic Lymphocytic Leukemia
      KAUFMAN, Matthew, Xiao-Jie YAN, Wentian LI, Emanuela M GHIA, Anton W LANGERAK, Laura Z RASSENTI, Chrysoula BELESSI, Neil E KAY, Frederic DAVI, John C BYRD, Šárka POSPÍŠILOVÁ, Jennifer R BROWN, Mark CATHERWOOD, Zadie DAVIS, David OSCIER, Marco MONTILLO, Livio TRENTIN, Richard ROSENQUIST, Paolo GHIA, Jacqueline C BARRIENTOS, Jonathan E KOLITZ, Steven L ALLEN, Kanti R RAI, Kostas STAMATOPOULOS, Thomas J KIPPS, Donna NEUBERG and Nicholas CHIORAZZI. Impact of the Types and Relative Quantities of IGHV Gene Mutations in Predicting Prognosis of Patients With Chronic Lymphocytic Leukemia. Frontiers in Oncology. Lausanne: Frontiers Media S.A., 2022, vol. 12, July 2022, p. 1-12. ISSN 2234-943X. Available from: https://dx.doi.org/10.3389/fonc.2022.897280.
      More: https://is.muni.cz/publication/2239436/en
    8. Memory B-cell like chronic lymphocytic leukaemia is associated with specific methylation profile of WNT5A promoter and undetectable expression of WNT5A gene
      POPPOVÁ, Lucie, Šárka PAVLOVÁ, Beatriz GONZALEZ, Jana KOTAŠKOVÁ, Karla PLEVOVÁ, Gabrijela DUMBOVIC, Pavlína JANOVSKÁ, Vojtěch BYSTRÝ, Anna PANOVSKÁ, Lucie BEZDĚKOVÁ, Stanislava MAŠLEJOVÁ, Yvona BRYCHTOVÁ, Michael DOUBEK, Marcela KRZYŽÁNKOVÁ, Marek BORSKÝ, Jiří MAYER, Vítězslav BRYJA, Sergio ALONSO and Šárka POSPÍŠILOVÁ. Memory B-cell like chronic lymphocytic leukaemia is associated with specific methylation profile of WNT5A promoter and undetectable expression of WNT5A gene. Epigenetics. Philadelphia: TAYLOR & FRANCIS INC, 2022, vol. 17, No 12, p. 1628-1635. ISSN 1559-2294. Available from: https://dx.doi.org/10.1080/15592294.2022.2050004.
      More: https://is.muni.cz/publication/2245078/en
    9. Next-generation sequencing in children with epilepsy: The importance of precise genotype–phenotype correlation
      HORÁK, Ondřej, Martina BUREŠOVÁ, Senad KOLÁŘ, Klára ŠPANĚLOVÁ, Barbora JEŘÁBKOVÁ, Renata GAILLYOVÁ, Katarína ČESKÁ, Kamila RÉBLOVÁ, Jana ŠOUKALOVÁ, Jana ZÍDKOVÁ, Lenka FAJKUSOVÁ, Hana OŠLEJŠKOVÁ, Ivan REKTOR and Pavlína DANHOFER. Next-generation sequencing in children with epilepsy: The importance of precise genotype–phenotype correlation. EPILEPSY & BEHAVIOR. SAN DIEGO: ACADEMIC PRESS INC ELSEVIER SCIENCE, 2022, vol. 128, March 2022, p. 1-6. ISSN 1525-5050. Available from: https://dx.doi.org/10.1016/j.yebeh.2022.108564.
      More: https://is.muni.cz/publication/2223041/en
    10. Refined diagnostic criteria for bone marrow mastocytosis: a proposal of the European competence network on mastocytosis
      ZANOTTI, R., M. BONIFACIO, G. LUCCHINI, W. R. SPERR, L. SCAFFIDI, B. VAN ANROOIJ, H. N. C. O. ELBERINK, J. ROSSIGNOL, O. HERMINE, A. GORSKA, M. LANGE, E. HADZIJUSUFOVIC, C. MIETHING, S. MULLER, C. PERKINS, W. SHOMALI, C. ELENA, A. ILLERHAUS, M. JAWHAR, R. PARENTE, F. CAROPPO, O. SOLOMIANYI, A. ZINK, M. MATTSSON, A. S. YAVUZ, J. PANSE, J. VARKONYI, Michael DOUBEK, V. SABATO, C. BREYNAERT, V. VUCINIC, T. SCHUG, H. HAGGLUND, F. WORTMANN, K. BROCKOW, I. ANGELOVA-FISCHER, A. B. FORTINA, M. TRIGGIANI, A. REITER, K. HARTMANN, L. MALCOVATI, J. GOTLIB, K. SHOUMARIYEH, M. NIEDOSZYTKO, M. AROCK, H. C. KLUIN-NELEMANS, P. BONADONNA and P. VALENT. Refined diagnostic criteria for bone marrow mastocytosis: a proposal of the European competence network on mastocytosis. Leukemia. London: Nature Publishing Group, 2022, vol. 36, No 2, p. 516-524. ISSN 0887-6924. Available from: https://dx.doi.org/10.1038/s41375-021-01406-y.
      More: https://is.muni.cz/publication/1834277/en
    11. Single-cell RNA sequencing analysis of T helper cell differentiation and heterogeneity
      JAROUŠEK, Radim, Antónia MIKULOVÁ, Petra DAĎOVÁ, Petr TAUŠ, Terézia KURUCOVÁ, Karla PLEVOVÁ, Boris TICHÝ and Lukáš KUBALA. Single-cell RNA sequencing analysis of T helper cell differentiation and heterogeneity. Biochimica et Biophysica Acta (BBA) - Molecular Cell Research. Elsevier B.V., 2022, vol. 1869, No 10, p. 1-17. ISSN 0167-4889. Available from: https://dx.doi.org/10.1016/j.bbamcr.2022.119321.
      More: https://is.muni.cz/publication/2243724/en
    12. The Absence of Retroelement Activity Is Characteristic for Childhood Acute Leukemias and Adult Acute Lymphoblastic Leukemia
      URAZBAKHTIN, Shamil, Anastasia SMIRNOVA, Anastasiya VOLAKHAVA, Elena ZERKALENKOVA, Maria SALYUTINA, Michael DOUBEK, Hana JELINKOVA, Nelly KHUDAINAZAROVA, Egor VOLCHKOV, Laima BELYAEVA, Ekaterina KOMECH, Šárka PAVLOVÁ, Yuri LEBEDEV, Karla PLEVOVÁ, Yulia OLSHANSKAYA, Alexander KOMKOV and Ilgar MAMEDOV. The Absence of Retroelement Activity Is Characteristic for Childhood Acute Leukemias and Adult Acute Lymphoblastic Leukemia. International Journal of Molecular Sciences. Basel: Multidisciplinary Digital Publishing Institute, 2022, vol. 23, No 3, p. 1756-1768. ISSN 1422-0067. Available from: https://dx.doi.org/10.3390/ijms23031756.
      More: https://is.muni.cz/publication/2212611/en
    13. The EHA Research Roadmap: Malignant Lymphoid Diseases
      DREYLING, Martin, Marc ANDRE, Nicola GOKBUGET, Herve TILLY, Mats JERKEMAN, John GRIBBEN, Andres FERRERI, Pierre MOREL, Stephan STILGENBAUER, Christopher FOX, Maria Ribera JOSE, Sonja ZWEEGMAN, Igor AURER, Csaba BODOR, Birgit BURKHARDT, Christian BUSKE, Dollores Caballero MARIA, Elias CAMPO, Bjoern CHAPUY, Andrew DAVIES, de Leval LAURENCE, Jeanette DOORDUIJN, Massimo FEDERICO, Philippe GAULARD, Francesca GAY, Paolo GHIA, Kirsten GRONBAEK, Hartmut GOLDSCHMIDT, Marie-Jose KERSTEN, Barbara KIESEWETTER, Judith LANDMAN-PARKER, Le Gouill STEVEN, Georg LENZ, Sirpa LEPPA, Armando LOPEZ-GUILLERMO, Elizabeth MACINTYRE, Maria Victoria Mateos MANTEGA, Philippe MOREAU, Carol MORENO, Bertrand NADEL, Jessica OKOSUN, Roger OWEN, Šárka POSPÍŠILOVÁ, Christiane POTT, Tadeusz ROBAK, Michelle SPINA, Kostas STAMATOPOULOS, Jan STARY, Karin TARTE, Allessandra TEDESCHI, Catherine THIEBLEMONT, Ralf Ulrich TRAPPE, Lorenz H TRUMPER and Gilles SALLES. The EHA Research Roadmap: Malignant Lymphoid Diseases. HemaSphere. Philadelphia: Lippincott Williams & Wilkins, 2022, vol. 6, No 6, p. 1-18. ISSN 2572-9241. Available from: https://dx.doi.org/10.1097/HS9.0000000000000726.
      More: https://is.muni.cz/publication/2211019/en
    14. Thrombotic and bleeding complications in patients with chronic lymphocytic leukemia and severe COVID-19: a study of ERIC, the European Research Initiative on CLL
      ANTIC, Darko, Natasa MILIC, Thomas CHATZIKONSTANTINOU, Lydia SCARFO, Vladimir OTASEVIC, Nina RAJOVIC, David ALLSUP, Alejandro Alonso CABRERO, Martin ANDRES, Monica Baile GONZALES, Antonella CAPASSO, Rosa COLLADO, Raul CORDOBA, Carolina CUELLAR-GARCIA, Juan Gonzalo CORREA, De Paoli LORENZO, De Paolis Maria ROSARIA, Del Poeta GIOVANNI, Maria DIMOU, Michael DOUBEK, Maria EFSTATHOPOULOU, Shaimaa EL-ASHWAH, Alicia ENRICO, Blanca ESPINET, Lucia FARINA, Angela FERRARI, Myriam FOGLIETTA, Alberto LOPEZ-GARCIA, Jose A GARCIA-MARCO, Rocio GARCIA-SERRA, Massimo GENTILE, Eva GIMENO, da Silva Maria GOMES, Odit GUTWEIN, Yervand K HAKOBYAN, Yair HERISHANU, Jose Angel HERNANDEZ-RIVAS, Tobias HEROLD, Gilad ITCHAKI, Ozren JAKSIC, Ann JANSSENS, Olga B KALASHNIKOVA, Elzbieta KALICINSKA, Arnon P KATER, Sabina KERSTING, Maya KOREN-MICHOWITZ, Jorge LABRADOR, Deepesh LAD, Luca LAURENTI, Alberto FRESA, Mark-David LEVIN, Carlota Mayor BASTIDA, Lara MALERBA, Roberto MARASCA, Monia MARCHETTI, Juan MARQUET, Biljana MIHALJEVIC, Ivana MILOSEVIC, Fatima MIRAS, Marta MORAWSKA, Marina MOTTA, Talha MUNIR, Roberta MURRU, Raquel NUNES, Jacopo OLIVIERI, Miguel Arturo PAVLOVSKY, Inga PISKUNOVA, Viola Maria POPOV, Francesca Maria QUAGLIA, Giulia QUARESMINI, Gianluigi REDA, Gian Matteo RIGOLIN, Amit SHRESTHA, Martin SIMKOVIC, Svetlana SMIRNOVA, Martin SPACEK, Paolo SPORTOLETTI, Oana STANCA, Niki STAVROYIANNI, Te Raa DOREEN, Kristina TOMIC, Sanne TONINO, Livio TRENTIN, Van der Spek ELLEN, van Gelder MICHEL, Marzia VARETTONI, Andrea VISENTIN, Candida VITALE, Vojin VUKOVIC, Ewa WASIK-SZCZEPANEK, Tomasz WROBEL, San Segundo Lucrecia YANEZ, Mohamed YASSIN, Marta COSCIA, Alessandro RAMBALDI, Emili MONTSERRAT, Robin FOA, Antonio CUNEO, Marc CARRIER, Paolo GHIA and Kostas STAMATOPOULOS. Thrombotic and bleeding complications in patients with chronic lymphocytic leukemia and severe COVID-19: a study of ERIC, the European Research Initiative on CLL. JOURNAL OF HEMATOLOGY & ONCOLOGY. LONDON: BMC, 2022, vol. 15, No 1, p. 1-13. ISSN 1756-8722. Available from: https://dx.doi.org/10.1186/s13045-022-01333-0.
      More: https://is.muni.cz/publication/2251393/en
    15. Very rare near-haploid acute lymphoblastic leukemia resistant to immunotherapy and CAR-T therapy in 19-year-old male patient
      ARPÁŠ, Tomáš, Hana JELÍNKOVÁ, Štěpán HRABOVSKÝ, Martina ORŠULOVÁ, Zuzana VRZALOVÁ, Veronika NAVRKALOVÁ, Eva BRHELOVÁ, Lenka BRYJOVÁ, Alena BULIKOVÁ, Eva ONDROUŠKOVÁ, Markéta ŠEJNOHOVÁ, František FOLBER, Petra ŠEDOVÁ, Jiří MAYER, Šárka POSPÍŠILOVÁ, Marie JAROŠOVÁ and Michael DOUBEK. Very rare near-haploid acute lymphoblastic leukemia resistant to immunotherapy and CAR-T therapy in 19-year-old male patient. CLINICAL CASE REPORTS. ENGLAND: WILEY, 2022, vol. 10, No 3, p. 1-5. ISSN 2050-0904. Available from: https://dx.doi.org/10.1002/ccr3.5545.
      More: https://is.muni.cz/publication/2211899/en

    2021

    1. A SNaPshot Assay for Determination of the Mannose-Binding Lectin Gene Variants and an Algorithm for Calculation of Haplogenotype Combinations
      MRÁZKOVÁ, Jana, Petr SISTEK, Jan LOCHMAN, Lydie IZAKOVIČOVÁ HOLLÁ, Zdeněk DANĚK and Petra BOŘILOVÁ LINHARTOVÁ. A SNaPshot Assay for Determination of the Mannose-Binding Lectin Gene Variants and an Algorithm for Calculation of Haplogenotype Combinations. Diagnostics. Basel: MDPI, 2021, vol. 11, No 2, p. 1-17. ISSN 2075-4418. Available from: https://dx.doi.org/10.3390/diagnostics11020301.
      More: https://is.muni.cz/publication/1767999/en
    2. ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings
      FAROLFI, Martina, Anna CECHOVA, Nina ONDRUSKOVA, Jana ZÍDKOVÁ, Bohdan KOUSAL, Hana HANSIKOVA, Tomas HONZIK and Petra LISKOVA. ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings. BMC OPHTHALMOLOGY. LONDON: BMC, 2021, vol. 21, No 1, p. 1-7. ISSN 1471-2415. Available from: https://dx.doi.org/10.1186/s12886-021-02013-2.
      More: https://is.muni.cz/publication/1816338/en
    3. Bioinformatic strategies for the analysis of genomic aberrations detected by targeted NGS panels with clinical application
      HYNŠT, Jakub, Veronika NAVRKALOVÁ, Karol PÁL and Šárka POSPÍŠILOVÁ. Bioinformatic strategies for the analysis of genomic aberrations detected by targeted NGS panels with clinical application. PeerJ. London: PEERJ INC, 2021, vol. 9, MAR 2021, p. 1-29. ISSN 2167-8359. Available from: https://dx.doi.org/10.7717/peerj.10897.
      More: https://is.muni.cz/publication/1768001/en
    4. COVID-19 severity and mortality in patients with CLL: an update of the international ERIC and Campus CLL study
      CHATZIKONSTANTINOU, T., A. KAPETANAKIS, L. SCARFO, G. KARAKATSOULIS, D. ALLSUP, A. A. CABRERO, M. ANDRES, D. ANTIC, M. BAILE, P. BALIAKAS, D. BRON, A. CAPASSO, S. CHATZILEONTIADOU, R. CORDOBA, J.G. CORREA, C. CUELLAR-GARCIA, L. DE PAOLI, M. R. DE PAOLIS, G. DEL POETA, C. DEMOSTHENOUS, M. DIMOU, D. DONALDSON, Michael DOUBEK, M. EFSTATHOPOULOU, B. EICHHORST, S. EL-ASHWAH, A. ENRICO, B. ESPINET, L. FARINA, A. FERRARI, M. FOGLIETTA, H. FREDERIKSEN, M. FURSTENAU, J. A. GARCIA-MARCO, R. GARCIA-SERRA, M. GENTILE, E. GIMENO, A. GLENTHOJ, M. G. DA SILVA, O. GUTWEIN, Y. K. HAKOBYAN, Y. HERISHANU, J. A. HERNANDEZ-RIVAS, T. HEROLD, I. INNOCENTI, G. ITCHAKI, O. JAKSIC, A. JANSSENS, O. B. KALASHNIKOVA, E. KALICINSKA, L. K. KARLSSON, A. P. KATER, S. KERSTING, J. LABRADOR, D. LAD, L. LAURENTI, M. D. LEVIN, E. LISTA, A. LOPEZ-GARCIA, L. MALERBA, R. MARASCA, M. MARCHETTI, J. MARQUET, M. MATTSSON, F. R. MAURO, I. MILOSEVIC, F. MIRAS, M. MORAWSKA, M. MOTTA, T. MUNIR, R. MURRU, C. U. NIEMANN, R. N. RODRIGUES, J. OLIVIERI, L. ORSUCCI, M. PAPAIOANNOU, M. A. PAVLOVSKY, I. PISKUNOVA, V. M. POPOV, F. M. QUAGLIA, G. QUARESMINI, K. QVIST, G. REDA, G. M. RIGOLIN, R. RUCHLEMER, G. SAGHUMYAN, A. SHRESTHA, M. SIMKOVIC, M. SPACEK, P. SPORTOLETTI, O. STANCA, N. STAVROYIANNI, T. TADMOR, D. TE RAA, S. H. TONINO, L. TRENTIN, E. VAN DER SPEK, M. VAN GELDER, R. VAN KAMPEN, M. VARETTONI, A. VISENTIN, C. VITALE, E. WASIK-SZCZEPANEK, T. WROBEL, L. Y. SAN SEGUNDO, M. YASSIN, M. COSCIA, A. RAMBALDI, E. MONTSERRAT, R. FOA, A. CUNEO, K. STAMATOPOULOS and P. GHIA. COVID-19 severity and mortality in patients with CLL: an update of the international ERIC and Campus CLL study. Leukemia. London: Nature Publishing Group, 2021, vol. 35, No 12, p. 3444-3454. ISSN 0887-6924. Available from: https://dx.doi.org/10.1038/s41375-021-01450-8.
      More: https://is.muni.cz/publication/1824585/en
    5. Extremely low birthweight neonates with phenylketonuria require special dietary management
      ZEMANOVÁ, Markéta, Petr CHRASTINA, Václav SEBRON, Dagmar PROCHÁZKOVÁ, Helena JAHNOVÁ, Petra SANAKOVA, Lucie PROCHÁZKOVÁ, Barbara TESAŘOVÁ and Jiří ZEMAN. Extremely low birthweight neonates with phenylketonuria require special dietary management. Acta pediatrica. HOBOKEN: Wiley, 2021, vol. 110, No 11, p. 2994-2999. ISSN 0803-5253. Available from: https://dx.doi.org/10.1111/apa.16035.
      More: https://is.muni.cz/publication/1784124/en
    6. Chromothripsis in Chronic Lymphocytic Leukemia: A Driving Force of Genome Instability
      ZÁVACKÁ, Kristýna and Karla PLEVOVÁ. Chromothripsis in Chronic Lymphocytic Leukemia: A Driving Force of Genome Instability. Frontiers in Oncology. Lausanne: Frontiers Media S.A., 2021, vol. 11, November 2021, p. 1-9. ISSN 2234-943X. Available from: https://dx.doi.org/10.3389/fonc.2021.771664.
      More: https://is.muni.cz/publication/1832343/en
    7. Impact of Antibiotics Associated with the Development of Toxic Epidermal Necrolysis on Early and Late-Onset Infectious Complications
      LIPOVÝ, Břetislav, Jakub HOLOUBEK, Marketa HANSLIANOVA, Michaela CVANOVÁ, Leo KLEIN, Ivana GROSSOVA, Robert ZAJICEK, Peter BUKOVCAN, Jan KOLLER, Matus BARAN, Peter LENGYEL, Lukas EIMER, Marie JANDOVA, Milan KOSTAL, Pavel BRYCHTA and Petra BOŘILOVÁ LINHARTOVÁ. Impact of Antibiotics Associated with the Development of Toxic Epidermal Necrolysis on Early and Late-Onset Infectious Complications. Microorganisms. Basel: MDPI, 2021, vol. 9, No 1, p. 1-15. ISSN 2076-2607. Available from: https://dx.doi.org/10.3390/microorganisms9010202.
      More: https://is.muni.cz/publication/1767998/en
    8. Long-QT founder variant T309I-Kv7.1 with dominant negative pattern may predispose delayed afterdepolarizations under β-adrenergic stimulation
      SYNKOVÁ, Iva, Markéta BÉBAROVÁ, Irena ANDRŠOVÁ, Larisa CHMELIKOVA, Olga ŠVECOVÁ, Jan HOSEK, Michal PÁSEK, Pavel VÍT, Iveta VALÁŠKOVÁ, Renata GAILLYOVÁ, Rostislav NAVRATIL and Tomáš NOVOTNÝ. Long-QT founder variant T309I-Kv7.1 with dominant negative pattern may predispose delayed afterdepolarizations under β-adrenergic stimulation. Nature Scientific Reports. London: NATURE RESEARCH, 2021, vol. 11, No 1, p. 1-13. ISSN 2045-2322. Available from: https://dx.doi.org/10.1038/s41598-021-81670-1.
      More: https://is.muni.cz/publication/1765769/en
    9. LYmphoid NeXt-Generation Sequencing (LYNX) Panel A Comprehensive Capture-Based Sequencing Tool for the Analysis of Prognostic and Predictive Markers in Lymphoid Malignancies
      NAVRKALOVÁ, Veronika, Karla PLEVOVÁ, Jakub HYNŠT, Karol PÁL, Andrea MAREČKOVÁ, Tomáš REIGL, Hana JELÍNKOVÁ, Zuzana VRZALOVÁ, Kamila STRÁNSKÁ, Šárka PAVLOVÁ, Anna PANOVSKÁ, Andrea JANÍKOVÁ, Michael DOUBEK, Jana KOTAŠKOVÁ and Šárka POSPÍŠILOVÁ. LYmphoid NeXt-Generation Sequencing (LYNX) Panel A Comprehensive Capture-Based Sequencing Tool for the Analysis of Prognostic and Predictive Markers in Lymphoid Malignancies. The journal of molecular diagnostics. Bethesda, MD: American Society for Investigative Pathology/Association for Molecular Pathology, 2021, vol. 23, No 8, p. 959-974. ISSN 1525-1578. Available from: https://dx.doi.org/10.1016/j.jmoldx.2021.05.007.
      More: https://is.muni.cz/publication/1836805/en
    10. Neurovývojová porucha s mentální retardací spojená s genem PPP2R5D - první případ v České republice (PPP2R5D-related intellectual disability and neurodevelopmental delay - the first case in the Czech Republic)
      SLABÁ, Kateřina, Hana PÁLOVÁ, Petra VESELÁ, Štefánia AULICKÁ, Petra KONEČNÁ, Martin ŠTĚRBA, Petr JABANDŽIEV, Ondřej SLABÝ and Dagmar PROCHÁZKOVÁ. Neurovývojová porucha s mentální retardací spojená s genem PPP2R5D - první případ v České republice (PPP2R5D-related intellectual disability and neurodevelopmental delay - the first case in the Czech Republic). Československá neurologie a neurochirurgie. Prague: CZECH MEDICAL SOC, 2021, vol. 84, No 2, p. 205-207. ISSN 1210-7859. Available from: https://dx.doi.org/10.48095/cccsnn2021205.
      More: https://is.muni.cz/publication/1766136/en
    11. RPS15 mutations rewire RNA translation in chronic lymphocytic leukemia
      NTOUFA, S., M. GEROUSI, S. LAIDOU, F. PSOMOPOULOS, G. TSIOLAS, T. MOYSIADIS, N. PAPAKONSTANTINOU, L. MANSOURI, A. ANAGNOSTOPOULOS, N. STAVROGIANNI, Šárka POSPÍŠILOVÁ, Karla PLEVOVÁ, A.M. MAKRIS, R. ROSENQUIST and K. STAMATOPOULOS. RPS15 mutations rewire RNA translation in chronic lymphocytic leukemia. BLOOD ADVANCES. WASHINGTON: AMER SOC HEMATOLOGY, 2021, vol. 5, No 13, p. 2788-2792. ISSN 2473-9529. Available from: https://dx.doi.org/10.1182/bloodadvances.2020001717.
      More: https://is.muni.cz/publication/1813386/en
    12. The Role of the Oral Microbiota in the Etiopathogenesis of Oral Squamous Cell Carcinoma
      VYHNALOVÁ, Tereza, Zdeněk DANĚK, Daniela GACHOVÁ and Petra BOŘILOVÁ LINHARTOVÁ. The Role of the Oral Microbiota in the Etiopathogenesis of Oral Squamous Cell Carcinoma. Microorganisms. Basel: MDPI, 2021, vol. 9, No 8, p. 1-23. ISSN 2076-2607. Available from: https://dx.doi.org/10.3390/microorganisms9081549.
      More: https://is.muni.cz/publication/1802119/en
    13. Two Novel Mutations in the JAG1 Gene in Pediatric Patients with Alagille Syndrome: The First Case Series in Czech Republic
      PROCHÁZKOVÁ, Dagmar, Romana BORSKÁ, Lenka FAJKUSOVÁ, Petra KONEČNÁ, Eliška HLOUŠKOVÁ, Zdeněk PAVLOVSKÝ, Ondřej SLABÝ and Šárka POSPÍŠILOVÁ. Two Novel Mutations in the JAG1 Gene in Pediatric Patients with Alagille Syndrome: The First Case Series in Czech Republic. Diagnostics. Basel: MDPI, 2021, vol. 11, No 6, p. 1-7. ISSN 2075-4418. Available from: https://dx.doi.org/10.3390/diagnostics11060983.
      More: https://is.muni.cz/publication/1772979/en

    2020

    1. Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report
      SLABÁ, Kateřina, Hana NOSKOVÁ, Petra VESELÁ, Jana TUČKOVÁ, Hana JIČÍNSKÁ, Tomáš HONZÍK, Hana HANSÍKOVÁ, Petra KLEIBLOVÁ, Petr ŠTOURAČ, Petr JABANDŽIEV, Ondřej SLABÝ and Dagmar PROCHÁZKOVÁ. Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report. Frontiers in Genetics. Lausanne: Frontiers, 2020, vol. 11, October 2020, p. 1-7. ISSN 1664-8021. Available from: https://dx.doi.org/10.3389/fgene.2020.561054.
      More: https://is.muni.cz/publication/1686525/en
    2. Organoids as a personalized medicine tool for ultra-rare mutations in cystic fibrosis: The case of S955P and 1717-2A > G
      SILVA, I. A.L ., Tereza DOUSOVA, S. RAMALHO, R. CENTEIO, L. A. CLARKE, V. RAILEAN, H. M. BOTELHO, Andrea HOLUBOVA, Iveta VALÁŠKOVÁ, J. T. YEH, T. C. HWANG, C. M. FARINHA, K. KUNZELMANN and M. D. AMARAL. Organoids as a personalized medicine tool for ultra-rare mutations in cystic fibrosis: The case of S955P and 1717-2A > G. Biochimica et Biophysica Acta - Molecular Basis of Disease. Amsterdam: ELSEVIER SCIENCE BV, 2020, vol. 1866, No 11, p. 1-10. ISSN 0925-4439. Available from: https://dx.doi.org/10.1016/j.bbadis.2020.165905.
      More: https://is.muni.cz/publication/1677936/en
    3. Out-of-Hospital Cardiac Arrest Due to Ventricular Fibrillation in a 5-Year-Old Pediatric Patient
      KLUČKA, Jozef, Tomáš JUŘENČÁK, Petr ŠTOURAČ, Pavel VÍT, Vladimíra FORALOVÁ and Iva SYNKOVÁ. Out-of-Hospital Cardiac Arrest Due to Ventricular Fibrillation in a 5-Year-Old Pediatric Patient. PEDIATRIC EMERGENCY CARE. PHILADELPHIA: LIPPINCOTT WILLIAMS & WILKINS, 2020, vol. 36, No 7, p. "E405"-"E407", 3 pp. ISSN 0749-5161. Available from: https://dx.doi.org/10.1097/PEC.0000000000001444.
      More: https://is.muni.cz/publication/1673137/en
    4. Responsiveness to i.v. immunoglobulin therapy in patients with toxic epidermal necrolysis: A novel pharmaco-immunogenetic concept
      BOŘILOVÁ LINHARTOVÁ, Petra, Daniela GACHOVÁ and Břetislav LIPOVÝ. Responsiveness to i.v. immunoglobulin therapy in patients with toxic epidermal necrolysis: A novel pharmaco-immunogenetic concept. JOURNAL OF DERMATOLOGY. HOBOKEN: WILEY, 2020, vol. 47, No 11, p. 1236-1248. ISSN 0385-2407. Available from: https://dx.doi.org/10.1111/1346-8138.15583.
      More: https://is.muni.cz/publication/1683660/en
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