Mgr. Tatiana Kováčová, Ph.D.

2021

• Nucleotides in both donor and acceptor splice sites are responsible for choice in NAGNAG tandem splice sites

  HUJOVÁ Pavla SOUČEK Přemysl RADOVÁ Lenka KRAMAREK Michal KOVÁČOVÁ Tatiana FREIBERGER Tomáš

  Article in Periodical

  Cellular and molecular life sciences, year: 2021, volume: 78, edition: 21-22, DOI

2020

• Splicing Enhancers at Intron-Exon Borders Participate in Acceptor Splice Sites Recognition

  KOVÁČOVÁ Tatiana SOUČEK Přemysl HUJOVÁ Pavla FREIBERGER Tomáš GRODECKÁ Lucie

  Article in Periodical

  International Journal of Molecular Sciences, year: 2020, volume: 21, edition: 18, DOI

2019

• 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

2017

• Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation

  GRODECKÁ Lucie KOVÁČOVÁ Tatiana KRAMÁREK Michal SENECA S. STOUFFS K. DE LAET C. MAJER F. KRŠJAKOVÁ Tereza HUJOVÁ Pavla HRNČÍŘOVÁ Kristýna SOUČEK Přemysl LISSENS W. BURATTI E. FREIBERGER Tomáš

  Article in Periodical

  JOURNAL OF MOLECULAR MEDICINE-JMM, year: 2017, volume: 95, edition: 3, DOI

• HAE caused by a novel deep intronic mutation in SERPING1 indroducing a cryptic exon.

  GROMBIŘÍKOVÁ Hana HUJOVÁ Pavla SOUČEK Přemysl GRODECKÁ Lucie RAVČUKOVÁ Barbora KOVÁČOVÁ Tatiana KRSJAKOVA T KUKLÍNEK Pavel HAKL Roman LITZMAN Jiří FREIBERGER Tomáš

  Conference abstract

  Year: 2017, type: Conference abstract

• Systematic analysis of splicing defects in selected primary immunodeficiencies-related genes

  GRODECKÁ Lucie HUJOVÁ Pavla KRAMÁREK Michal KRSJAKOVA Tereza KOVÁČOVÁ Tatiana VONDRÁŠKOVÁ Katarína RAVCUKOVA Barbora HRNČÍŘOVÁ Kristýna SOUČEK Přemysl FREIBERGER Tomáš

  Article in Periodical

  Clinical Immunology, year: 2017, volume: 180, edition: July, DOI

2014

• No Major Effect of the CDH1 c.2440-6C > G Mutation on Splicing Detected in Last Exon-Specific Splicing Minigene Assay

  GRODECKÁ Lucie KRAMÁREK Michal LOCKEROVÁ Pavla KOVÁČOVÁ Tatiana RAVČUKOVÁ Barbora RICHTEROVÁ Radmila KYSELOVÁ Kateřina AUGSTE Eva FREIBERGER Tomáš

  Article in Periodical

  GENES CHROMOSOMES & CANCER, year: 2014, volume: 53, edition: 9, DOI