Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Barbora Ravčuková"'
Autor:
Veronika Kanderova, Hana Grombirikova, Irena Zentsova, Kamila Reblova, Adam Klocperk, Martina Fejtkova, Marketa Bloomfield, Barbora Ravcukova, Tomas Kalina, Tomas Freiberger, Anna Sediva
Publikováno v:
Haematologica, Vol 104, Iss 1 (2019)
Externí odkaz:
https://doaj.org/article/e499ab134e854d8c9b7d672745285506
Autor:
Lucie Grodecká, Pavla Lockerová, Barbora Ravčuková, Emanuele Buratti, Francisco E Baralle, Ladislav Dušek, Tomáš Freiberger
Publikováno v:
PLoS ONE, Vol 9, Iss 2, p e89570 (2014)
Mutations in the first nucleotide of exons (E(+1)) mostly affect pre-mRNA splicing when found in AG-dependent 3' splice sites, whereas AG-independent splice sites are more resistant. The AG-dependency, however, may be difficult to assess just from pr
Externí odkaz:
https://doaj.org/article/1a828e23d9c641e8b2d7b6964207b25e
Autor:
Romana Kozumplíková, Martin Jouza, Barbora Ravčuková, Eva Hlaváčková, Eva Karásková, Marta Ježová, Tereza Pinkasová, Hana Bučková, Tomáš Freiberger, Jakub Pecl, Petr Jabandžiev, Václava Curtisová, Hana Grombiříková, Kateřina Slabá, Viktor Bíly, Lumír Kunovský
Publikováno v:
Gastroenterologie a hepatologie. 74:481-487
Prezentujeme kazuistiku pacienta se somatickou retardaci a abnormalnim vzhledem vlasů, který trpěl opakovanými epizodami vodnateho hlenoviteho průjmu, postihem jaternich funkci a neprospivanim. U pacienta byly pozorovany těžke průběhy infekc
Autor:
Přemysl Souček, Tomáš Freiberger, Jiří Litzman, Hana Grombiříková, Roman Hakl, Lucie Grodecká, Pavel Kuklínek, Barbora Ravčuková, Pavla Hujová
Publikováno v:
Journal of Clinical Immunology. 40:435-446
Hereditary angioedema (HAE) is a rare autosomal dominant life-threatening disease characterized by low levels of C1 inhibitor (type I HAE) or normal levels of ineffective C1 inhibitor (type II HAE), typically occurring as a consequence of a SERPING1
Autor:
Přemysl Souček, Lucie Grodecká, Tomáš Freiberger, Pavla Hujová, Katarína Vondrášková, Barbora Ravčuková, Tereza Kršjaková, Michal Kramárek, Kristýna Hrnčířová, Tatiana Kováčová
Publikováno v:
Clinical Immunology. 180:33-44
Both variants affecting splice sites and those in splicing regulatory elements (SREs) can impair pre-mRNA splicing, eventually leading to severe diseases. Despite the availability of many prediction tools, prognosis of splicing affection is not trivi
Autor:
Jitka Malčíková, Renata Hrabálková, Jana Šmardová, Lenka Zlamalikova, David Šálek, Mojmír Moulis, Jiri Jarkovsky, Barbora Ravčuková, Miluše Svitáková, Jan Šmarda, Kvetoslava Liskova
Publikováno v:
Oncology Reports. 38:2535-2542
Mutations and deletions of the tumor suppressor TP53 gene are the most frequent genetic alterations detected in human tumors, though they are rather less frequent in lymphomas. However, acquisition of the TP53 mutation was demonstrated to be one of t
Autor:
Nermeen Galal, Radwa Alkady, Caroline Deswarte, Mahitab Abdelkawy, Jeannette Boutros, Taghrid Gaafar, Rabab El Hawary, Safa Meshaal, Jiri Litzman, Aisha Elmarsafy, Barbora Ravčuková, Dalia Abd Elaziz, Jacinta Bustamante, Tomáš Freiberger
Publikováno v:
Journal of Clinical Immunology. 36:610-618
Chronic granulomatous disease (CGD) is an inherited mutational defect in any of the NADPH oxidase complex, CYBB (gp91-phox), NCF1 (p47-phox), CYBA (p22-phox), NCF2 (p67-phox), or NCF4 (p40-phox) leading to inability of phagocytes to perform effective
Autor:
Barbora Ravčuková, Vasilica Plaiasu, Ales Janda, Ioan Gherghina, Alexis-Virgil Cochino, Diana Ochiana, Tomáš Freiberger
Publikováno v:
Journal of Clinical Immunology. 34:142-145
Bruton's agammaglobulinemia is a rare X-linked humoral immunodeficiency manifesting with recurrent bacterial infections early in life. Klinefelter's syndrome caused by an additional X chromosome is the most common sex chromosome disorder. A previousl
Autor:
Jan Šmarda, Sabina Ševčíková, Miluše Svitáková, Barbora Ravčuková, Jana Šmardová, Václav Vybíhal, Lenka Kubiczková, Leos Kren, Kvetoslava Liskova, Jaroslav Michálek
Publikováno v:
Pathology & Oncology Research. 19:421-428
Glioblastoma is the most common and the most aggressive type of brain cancer. Aberrations of the RTK/RAS/PI3K-, p53-, and RB cell signaling pathways were recognized as a core requirement for pathogenesis of glioblastoma. The p53 tumor suppressor func
Autor:
Z. Pikulová, Pavel Kuklínek, Sáva Pešák, Jiří Litzman, Ulrich Salzer, Jiří Jarkovský, Lucie Grodecká, Barbora Ravčuková, Dagmar Štikarovská, Tomáš Freiberger
Publikováno v:
Human Immunology. 73:1147-1154
Mutations in the TNFRSF13B gene, encoding TACI, have been found in common variable immunodefi- ciency (CVID) and selective IgA deficient (IgAD) patients, but only the association with CVID seems to be significant. In this study, Czech CVID, IgAD and