prof. MUDr. Tomáš Freiberger, Ph.D.

2019

• 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

• LDLR variants in the beta-propeller subdomain and their effect on the protein maturation and unfolded protein response.

  DUŠKOVÁ Lucie HUJŇÁKOVÁ Martina ZAPLETALOVÁ Petra FIALOVÁ J. RÉBLOVÁ Kamila TICHÝ Lukáš FREIBERGER Tomáš FAJKUSOVÁ Lenka

  Conference abstract

  Year: 2019, type: Conference abstract

• Lymphoproliferation, immunodeficiency and early-onset inflammatory bowel disease associated with a novel mutation in Caspase 8

  KANDEROVA V. GROMBIRIKOVA H. ZENTSOVA I. RÉBLOVÁ Kamila KLOCPERK A. FEJTKOVA M. BLOOMFIELD M. RAVCUKOVA B. KALINA T. FREIBERGER Tomáš SEDIVA A.

  Article in Periodical

  Haematologica, year: 2019, volume: 104, edition: 1, DOI

• Molecular Techniques Complement Culture-Based Assessment of Bacteria Composition in Mixed Biofilms of Urinary Tract Catheter-Related Samples

  KOTÁSKOVÁ Iva OBRUČOVÁ Hana MALIŠOVÁ Barbora VÍDEŇSKÁ Petra ZWINSOVÁ Barbora PEROUTKOVÁ Tereza DVOŘÁČKOVÁ Milada KUMSTÁT Petr TROJAN Pavel RŮŽIČKA Filip HOLÁ Veronika FREIBERGER Tomáš

  Article in Periodical

  Frontiers in Microbiology, year: 2019, volume: 10, edition: 462, DOI

• Neutrophil and Granulocytic Myeloid-Derived Suppressor Cell-Mediated T Cell Suppression Significantly Contributes to Immune Dysregulation in Common Variable Immunodeficiency Disorders

  VLKOVÁ Marcela CHOVANCOVÁ Zita NECHVÁTALOVÁ Jana CONNELLY Ashley Nicole DAVIS Marcus Darrell SLANINA Peter KUČEROVÁ Lucie LITZMAN Marek GRYMOVÁ Tereza SOUČEK Přemysl FREIBERGER Tomáš LITZMAN Jiří HEL Zdenek

  Article in Periodical

  Journal of immunology, year: 2019, volume: 202, edition: 1, DOI

• Neutrophils Are Dysregulated in Patients with Hereditary Angioedema Types I and II in a Symptom-Free Period

  GRYMOVÁ Tereza VLKOVÁ Marcela SOUČEK Přemysl HAKL Roman NECHVÁTALOVÁ Jana SLANINA Peter ŠTÍCHOVÁ Julie LITZMAN Jiří FREIBERGER Tomáš

  Article in Periodical

  Mediators of Inflammation, year: 2019, volume: 2019, edition: 9515628, DOI

• Novel SAMD9 Mutation in a Patient With Immunodeficiency, Neutropenia, Impaired Anti-CMV Response, and Severe Gastrointestinal Involvement

  FORMANKOVA Renata KANDEROVA Veronika RACKOVA Marketa SVATON Michael BRDICKA Tomas RIHA Petr KESLOVÁ Petra MEJSTRIKOVA Ester ZALIOVA Marketa FREIBERGER Tomáš GROMBIŘÍKOVÁ Hana ZEMANOVA Zuzana VLKOVÁ Marcela FENCL Filip COPOVA Ivana BRONSKY Jiri JABANDŽIEV Petr SEDLACEK Petr ŠOUKALOVÁ Jana ZAPLETAL Ondrej STARY Jan TRKA Jan KALINA Tomas KRAMARZOVA Karolina HLAVÁČKOVÁ Eva LITZMAN Jiří FRONKOVA Eva

  Article in Periodical

  Frontiers in Immunology, year: 2019, volume: 10, edition: SEP 18 2019, DOI

• Sada pro stanovení relativního zastoupení alternativních transkriptů genu PLAUR

  SOUČEK Přemysl FREIBERGER Tomáš BALLONOVÁ L.

  Year: 2019

• Screening of LAMP2 expression in peripheral white blood cells by flow cytometry effectively identifies Danon disease among young females with advanced heart failure.

  KUBANEK M Milos GURKA J MAJER F PIHEROVA L KREBSOVA A CHALOUPKA Anna KREJČÍ Jan FREIBERGER Tomáš ZAKOVA D KALINA T SIKORA J MELENOVSKY V

  Conference abstract

  Year: 2019, type: Conference abstract

• 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