Mgr. Kamila Réblová, Ph.D.

2021

• Functional analysis of germlineETV6 W380Rmutation causing inherited thrombocytopenia and secondary acute lymphoblastic leukemia or essential thrombocythemia

  STAŇO KOZUBÍK Kateřina RADOVÁ Lenka RÉBLOVÁ Kamila ŠMÍDA Michal KUBRICANOVA ZALIOVA Marketa BALOUN Jiří PEŠOVÁ Michaela VRZALOVÁ Zuzana FOLBER František MEJSTŘÍKOVÁ Soňa POSPÍŠILOVÁ Šárka DOUBEK Michael

  Article in Periodical

  Platelets, year: 2021, volume: 32, edition: 6, DOI

• Functional analysis of new variant GP1BA gene in inherited macrotrombocytopenia.

  SKALNÍKOVÁ Magdalena STAŇO KOZUBÍK Kateřina VRZALOVÁ Zuzana RÉBLOVÁ Kamila TRIZULJAK Jakub ŠTIKA Jiří RADOVÁ Lenka POSPÍŠILOVÁ Šárka DOUBEK Michael

  Conference abstract

  Year: 2021, type: Conference abstract

• Phylogenetic Reassessment, Taxonomy, and Biogeography of Codinaea and Similar Fungi

  REBLOVA M. KOLARIK M. NEKVINDOVA J. RÉBLOVÁ Kamila SKLENAR F. MILLER A.N. HERNANDEZ-RESTREPO M.

  Article in Periodical

  Journal of Fungi, year: 2021, volume: 7, edition: 12, DOI

2020

• Importance of base-pair opening for mismatch recognition

  BOUCHAL Tomáš DURNÍK Ivo ILLÍK Viktor RÉBLOVÁ Kamila KULHÁNEK Petr

  Article in Periodical

  Nucleic Acids Research, year: 2020, volume: 48, edition: 20, DOI

• Low Density Lipoprotein Receptor Variants in the Beta-Propeller Subdomain and Their Functional Impact

  DUŠKOVÁ Lucie NOHELOVÁ Lucie LOJA Tomáš FIALOVÁ Jana ZAPLETALOVÁ Petra RÉBLOVÁ Kamila TICHÝ Lukáš FREIBERGER Tomáš FAJKUSOVÁ Lenka

  Article in Periodical

  Frontiers in Genetics, year: 2020, volume: 11, edition: JUN 2020, DOI

2019

• A novel germline mutation in GP1BA gene in family with hereditary macrothrombocytopenia

  STAŇO KOZUBÍK Kateřina TRIZULJAK Jakub PEŠOVÁ Michaela PÁL Karol RÉBLOVÁ Kamila RADOVÁ Lenka POSPÍŠILOVÁ Šárka DOUBEK Michael

  Conference abstract

  Year: 2019, type: Conference abstract

• A novel germline mutation of the SFTPA1 gene in familial interstitial pneumonia

  DOUBKOVÁ Martina STAŇO KOZUBÍK Kateřina RADOVÁ Lenka PEŠOVÁ Michaela TRIZULJAK Jakub PÁL Karol SVOBODOVÁ Klára RÉBLOVÁ Kamila SVOZILOVÁ Hana VRZALOVÁ Zuzana POSPÍŠILOVÁ Šárka DOUBEK Michael

  Article in Periodical

  HUMAN GENOME VARIATION, year: 2019, volume: 6, edition: MAR, DOI

• Activation-induced deaminase and its splice variants associate with trisomy 12 in chronic lymphocytic leukemia

  ZÁPRAŽNÁ Kristína RÉBLOVÁ Kamila SVOBODOVA V. RADOVÁ Lenka BYSTRÝ Vojtěch BALOUN Jiří ĎURECHOVÁ Kristina TOM Nikola LOJA Tomáš BUREŠOVÁ Martina STRÁNSKÁ Kamila OLTOVÁ Alexandra DOUBEK Michael ATCHISON M.L. TRBUŠEK Martin MALČÍKOVÁ Jitka POSPÍŠILOVÁ Šárka

  Article in Periodical

  Annals of hematology, year: 2019, volume: 98, edition: 2, DOI

• Bending of DNA duplexes with mutation motifs

  RŮŽIČKA Michal SOUČEK Přemysl KULHÁNEK Petr RADOVÁ Lenka FAJKUSOVA L. RÉBLOVÁ Kamila

  Article in Periodical

  DNA RESEARCH, year: 2019, volume: 26, edition: 4, DOI

• High-throughput analysis revealed mutations' diverging effects on SMN1 exon 7 splicing

  SOUČEK Přemysl RÉBLOVÁ Kamila KRAMÁREK Michal RADOVÁ Lenka GRYMOVÁ Tereza HUJOVÁ Pavla KOVÁČOVÁ Tatiana LEXA Matej GRODECKÁ Lucie FREIBERGER Tomáš

  Article in Periodical

  RNA BIOLOGY, year: 2019, volume: 16, edition: 10, DOI