Institute of Medical Genetics and Genomics

Articles

• Extensive Parapharyngeal Abscess in a 4-Month-Old Infant

  PETROVÁ Barbora ŠIKOLOVÁ Soňa BARTOŠ Michal JANČÍKOVÁ Jana JABANDŽIEV Petr KLABUSAYOVÁ Eva URÍK Milan

  Article in Periodical

  Ear, Nose & Throat Journal, year: 2024, volume: 103, edition: 6, DOI

• FoxO1/Rictor axis induces a non-genetic adaptation to Ibrutinib via Akt activation in chronic lymphocytic leukemia

  ONDRIŠOVÁ Laura ŠEDA Václav HLAVÁČ Kryštof PAVELKOVÁ Petra HOFERKOVÁ Eva CHIODIN Giorgia KOŠŤÁLOVÁ Lenka MLADONICKÁ PAVLASOVÁ Gabriela FILIP Daniel VEČEŘA Josef FARIA ZENI Pedro OPPELT Jan KAHOUNOVÁ Zuzana VICHOVA Rachel SOUČEK Karel PANOVSKÁ Anna PLEVOVÁ Karla POSPÍŠILOVÁ Šárka ŠIMKOVIČ Martin VRBACKÝ Filip LYSÁK Daniel FERNANDES Stacey M. DAVIDS M.S. MAIQUES-DIAZ Alba CHARALAMPOPOULOU Stella MARTIN-SUBERO Jose I. BROWN Jenifer R. DOUBEK Michael MAYER Jiří MRÁZ Marek

  Article in Periodical

  The Journal of Clinical Investigation, year: 2024, DOI

• Generation of human induced pluripotent stem cell lines from patients with a RYR2 gene variant c.14201A>G (p.Y4734C): Implications for idiopathic ventricular fibrillation and catecholaminergic polymorphic ventricular tachycardia

  ÇELIKER Canan ZELENÁK Štefan LIETAVA Samuel PACHERNÍK Jiří BÉBAROVÁ Markéta ZÍDKOVÁ Jana NOVOTNÝ Tomáš BÁRTA Tomáš

  Article in Periodical

  Stem cell research, year: 2024, volume: 81, edition: December 2024, DOI

• Impact of thrombocytopenia-associated c.-118C>T and c.-140C>G ANKRD26 5’UTR variants in three-generational pedigree

  TRIZULJAK Jakub LIKAVCOVÁ Paulína STAŇO KOZUBÍK Kateřina VRZALOVÁ Zuzana HYNŠT Jakub DEISSOVÁ Tereza ŠTIKA Jiří RADOVÁ Lenka PRUDKOVÁ Marie VACULOVA Jana BLAHÁKOVÁ Ivona SMEJKAL Petr KAMELANDER Jan POSPÍŠILOVÁ Šárka DOUBEK Michael

  Article in Periodical

  Platelets, year: 2024, volume: 35, edition: 1, DOI

• Incidental Germline Findings During Comprehensive Genomic Profiling of Pancreatic and Colorectal Cancer: Single-center, Molecular Tumor Board Experience

  EID Michal TRIZULJAK Jakub TASLEROVÁ Renata GRYC Martin VLAŽNÝ Jakub VILMANOVÁ Sára JELÍNKOVÁ Martina HOMOLOVÁ Alena TUČEK Štěpán HLAVSA Jan GROLICH Tomáš KALA Zdeněk KRÁL Zdeněk SLABÝ Ondřej

  Article in Periodical

  Mutagenesis, year: 2024, DOI

• Integrative NGS testing reveals clonal dynamics of adverse genomic defects contributing to a natural progression in treatment-naïve CLL patients

  NAVRKALOVÁ Veronika PLEVOVÁ Karla RADOVÁ Lenka PORC Jakub Paweł PÁL Karol MALČÍKOVÁ Jitka PAVLOVÁ Šárka DOUBEK Michael PANOVSKÁ Anna KOTAŠKOVÁ Jana POSPÍŠILOVÁ Šárka

  Article in Periodical

  British journal of haematology, year: 2024, volume: 204, edition: 1, DOI

• IκBε deficiency accelerates disease development in chronic lymphocytic leukemia

  BORDINI Jessica LENZI Chiara FRENQUELLI Michela MORABITO Alessia PSEFTOGAS Athanasios BELLONI Daniela MANSOURI Larry TSIOLAS George PEROTTA Eleonora RANGHETTI Pamela GANDINI Francesca GENOVA Francesca HAGERSTRAND Daniel GAVRIILIDIS Georgios KEISARIS Sofoklis PECHLIVANIS Nikolaos DAVI Frederic KAY Neil E LANGERAK Anton W POSPÍŠILOVÁ Šárka SCARFO Lydia MAKRIS Antonios PSOMOPOULOS Fotis E STAMATOPOULOS Kostas ROSENQUIST Richard CAMPANELLA Alessandro GHIA Paolo

  Article in Periodical

  Leukemia, year: 2024, volume: 38, edition: 6, DOI

• JUN mediates the senescence associated secretory phenotype and immune cell recruitment to prevent prostate cancer progression

  REDMER Torben RAIGEL Martin STERNBERG Christina ZIEGLER Roman PROBST Clara LINDNER Desiree AUFINGER Astrid LIMBERGER Tanja TRACHTOVÁ Karolína KODAJOVA Petra HOEGLER Sandra SCHLEDERER Michaela STOIBER Stefan OBERHUBER Monika BOLIS Marco NEUBAUER Heidi A MIRANDA Sara TOMBERGER Martina HARBUSCH Nora S INES Garces de los Fayos Alonso STERNBERG Felix MORIGGL Richard THEURILLAT Jean-Philippe TICHÝ Boris BYSTRÝ Vojtěch PERSSON Jenny L MATHAS Stephan ABERGER Fritz STROBL Birgit POSPÍŠILOVÁ Šárka MERKEL Olaf EGGER Gerda LAGGER Sabine KENNER Lukas

  Article in Periodical

  Molecular Cancer, year: 2024, volume: 23, edition: 1, DOI

• Large TRAPPC11 gene deletions as a cause of muscular dystrophy and their estimated genesis

  KOPČILOVÁ Johana PTÁČKOVÁ Hana KRAMÁŘOVÁ Tereza FAJKUSOVÁ Lenka RÉBLOVÁ Kamila ZEMAN Jiří HONZÍK Tomáš ZDRAŽILOVÁ Lucie ZÁMEČNÍK Josef BALÁŽOVÁ Patrícia VIESTOVÁ Karin KOLNÍKOVÁ Miriam HANSÍKOVÁ Hana ZÍDKOVÁ Jana

  Article in Periodical

  Journal of Medical Genetics, year: 2024, volume: 61, edition: 9, DOI

• LDLR gene rearrangements in Czech FH patients likely arise from one mutational event

  KONEČNÁ Kateřina ZAPLETALOVA Petra FREIBERGER Tomáš TICHÝ Lukáš

  Article in Periodical

  LIPIDS IN HEALTH AND DISEASE, year: 2024, volume: 23, edition: 1, DOI