Mgr. Lucie Grodecká, Ph.D.

2021

• A spectrum of SERPING1 mutations and clinical characterisation of Czech Hereditary Angioedema patients.

  GROMBIŘÍKOVÁ Hana RAVČUKOVÁ Barbora GRODECKÁ Lucie HUJOVÁ Pavla HAKL Roman KUKLÍNEK Pavel ZACHOVÁ Radana SOBOTKOVÁ M. KRÁLÍČKOVÁ Pavlína KRYŠTŮVKOVÁ Olga ŠEDIVÁ Anna LITZMAN Jiří FREIBERGER Tomáš

  Conference abstract

  Year: 2021, type: Conference abstract

2020

• Deep Intronic Mutation in SERPING1 Caused Hereditary Angioedema Through Pseudoexon Activation

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

  Article in Periodical

  Journal of Clinical Immunology, year: 2020, volume: 40, edition: 3, DOI

• Effect of intronic mutations on pseudoexon inclusion

  SVOBODOVÁ Eliška SOUČEK Přemysl FREIBERGER Tomáš GRODECKÁ Lucie

  Conference abstract

  Year: 2020, type: Conference abstract

• 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

• Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-beta

  LI J. RITELLI M. MA C. S. RAO G. HABIB T. CORVILAIN E. BOUGARN S. CYPOWYJ S. GRODECKÁ Lucie LEVY R. BEZIAT V. SHANG L. PAYNE K. AVERY D. T. MIGAUD M. BOUCHERIT S. BOUGHORBEL S. GUENNOUN A. CHRABIEH M. RAPAPORT F. BIGIO B. ITAN Y. BOISSON B. CORMIER-DAIRE V. SYX D. MALFAIT F. ZOPPI N. ABEL L. FREIBERGER Tomáš DIETZ H. C. MARR N. TANGYE S. G. COLOMBI M. CASANOVA J. L. PUEL A. FIESCHI C.

  Article in Periodical

  SCIENCE IMMUNOLOGY, year: 2019, volume: 4, edition: 41, DOI

• Impact of acceptor splice site NAGTAG motif on exon recognition

  HUJOVÁ Pavla GRODECKÁ Lucie SOUČEK Přemysl FREIBERGER Tomáš

  Article in Periodical

  MOLECULAR BIOLOGY REPORTS, year: 2019, volume: 46, edition: 3, DOI

• SERPING1 exon 3 splicing variants using alternative acceptor splice sites

  GRYMOVÁ Tereza GRODECKÁ Lucie SOUČEK Přemysl FREIBERGER Tomáš

  Article in Periodical

  Molecular Immunology, year: 2019, volume: 107, edition: MAR 2019, DOI

2018

• A new deep intronic mutation caused aberrant splicing in a family diagnosed with hereditary angioedema

  HUJOVÁ Pavla GRODECKÁ Lucie SOUČEK Přemysl GROMBIŘÍKOVÁ Hana RAVČUKOVÁ Barbora KUKLÍNEK Pavel HAKL Roman FREIBERGER Tomáš

  Year: 2018, type:

2017

• Clinical and molecular characterisation of czech hereditary angioedema patients.

  FREIBERGER Tomáš RAVČUKOVÁ Barbora GROMBIŘÍKOVÁ Hana GRODECKÁ Lucie HUJOVÁ Pavla HAKL Roman KUKLÍNEK Pavel ZACHOVA R SOBOTKOVA M KRALICKOVA P KRYSTUFKOVA O SEDIVA A LITZMAN Jiří

  Appeared in Conference without Proceedings

  Year: 2017, type: Appeared in Conference without Proceedings