Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Kateřina Staňo Kozubík"'
Autor:
Jakub Trizuljak, Paulína Likavcová, Kateřina Staňo Kozubík, Zuzana Vrzalová, Jakub Hynšt, Tereza Deissová, Jiří Štika, Lenka Radová, Marie Prudková, Jana Vaculová, Ivona Blaháková, Petr Smejkal, Jan Kamelander, Šárka Pospíšilová, Michael Doubek
Publikováno v:
Platelets, Vol 35, Iss 1 (2024)
Inherited thrombocytopenias (ITs) encompass a group of rare disorders characterized by diminished platelet count. Recent advancements have unveiled various forms of IT, with inherited thrombocytopenia 2 (THC2) emerging as a prevalent subtype associat
Externí odkaz:
https://doaj.org/article/fc05d1ef48eb442e9b39d2d47ebad9ef
Autor:
Magdalena Skalníková, Kateřina Staňo Kozubík, Jakub Trizuljak, Zuzana Vrzalová, Lenka Radová, Kamila Réblová, Radka Holbová, Terézia Kurucová, Hana Svozilová, Jiří Štika, Ivona Blaháková, Barbara Dvořáčková, Marie Prudková, Olga Stehlíková, Michal Šmída, Leoš Křen, Petr Smejkal, Šárka Pospíšilová, Michael Doubek
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 2, p 885 (2022)
Bernard-Soulier syndrome (BSS) is a rare inherited disorder characterized by unusually large platelets, low platelet count, and prolonged bleeding time. BSS is usually inherited in an autosomal recessive (AR) mode of inheritance due to a deficiency o
Externí odkaz:
https://doaj.org/article/bc2589a90b95416a86507c5f213b1d9a
Autor:
Jakub Trizuljak, Kateřina Staňo Kozubík, Lenka Radová, Michaela Pešová, Karol Pál, Kamila Réblová, Olga Stehlíková, Petr Smejkal, Jiřina Zavřelová, Milan Pacejka, Jiří Mayer, Šárka Pospíšilová, Michael Doubek
Publikováno v:
Platelets, Vol 29, Iss 8, Pp 827-833 (2018)
Mutations in the GP1BA gene have been associated with platelet-type von Willebrand disease and Bernard-Soulier syndrome. Here, we report a novel GP1BA mutation in a family with autosomal dominant macrothrombocytopenia and mild bleeding. We performed
Externí odkaz:
https://doaj.org/article/5689635ac7c94c4a9194ae805cf5ba1d
Autor:
Karla Plevová, Kamila Réblová, Jakub Trizuljak, Tomáš Szotkowski, Michaela Pešová, J. Gumulec, Šárka Pospíšilová, Veronika Fiamoli, Michael Doubek, Lenka Radová, Kateřina Staňo Kozubík, Jiří Mayer, Helena Urbánková
Publikováno v:
International Journal of Hematology. 108:652-657
Here we report a C-terminal RUNX1 mutation in a family with platelet disorder and predisposition to myeloid malignancies. We identified the mutation c.866delG:p.Gly289Aspfs*22 (NM_001754) (RUNX1 b-isoform NM_001001890; c.785delG:p.Gly262Aspfs*22) usi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b7be9187828409b6493f81b01176faf
https://doi.org/10.1007/s12185-018-2514-3
https://doi.org/10.1007/s12185-018-2514-3
Autor:
Kamila Réblová, Michaela Pešová, Martina Doubková, Kateřina Staňo Kozubík, Zuzana Vrzalová, Šárka Pospíšilová, Michael Doubek, Hana Svozilová, Lenka Radová, Karol Pál, Jakub Trizuljak, Klára Svobodová
Publikováno v:
Human Genome Variation
Human Genome Variation, Vol 6, Iss 1, Pp 1-6 (2019)
Human Genome Variation, Vol 6, Iss 1, Pp 1-6 (2019)
Different genes related to alveolar stability have been associated with familial interstitial pneumonia (FIP). Here, we report a novel, rare SFTPA1 variant in a family with idiopathic interstitial pneumonia (IIP). We performed whole-exome sequencing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b613472feceb9ba2c016afd727050ab1
https://doi.org/10.1038/s41439-019-0044-z
https://doi.org/10.1038/s41439-019-0044-z
Autor:
Olga Stehlíková, Michaela Pešová, Kamila Réblová, Petr Smejkal, Šárka Pospíšilová, Karol Pál, Jiřina Zavřelová, Jakub Trizuljak, Kateřina Staňo Kozubík, Jiří Mayer, Milan Pacejka, Michael Doubek, Lenka Radová
Publikováno v:
Platelets. 29(8)
Mutations in the GP1BA gene have been associated with platelet-type von Willebrand disease and Bernard-Soulier syndrome. Here, we report a novel GP1BA mutation in a family with autosomal dominant macrothrombocytopenia and mild bleeding. We performed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4bdd3a883fcba971abec41985273bfb
https://pubmed.ncbi.nlm.nih.gov/30332551
https://pubmed.ncbi.nlm.nih.gov/30332551
Autor:
Katerina Stano Kozubik, Lenka Radova, Kamila Reblova, Michal Smida, Marketa Zaliova Kubricanova, Jiri Baloun, Michaela Pesova, Zuzana Vrzalova, Frantisek Folber, Sona Mejstrikova, Sarka Pospisilova, Michael Doubek
Publikováno v:
Platelets, Vol 32, Iss 6, Pp 838-841 (2021)
Germline mutations in ETV6 gene cause inherited thrombocytopenia with leukemia predisposition. Here, we report on functional validation of ETV6 W380R mutation segregating with thrombocytopenia in a family where two family members also suffered from a
Externí odkaz:
https://doaj.org/article/df06206cdabd4b8b86d66e3bdd0b8058
Autor:
Lesley-Ann Sutton, Viktor Ljungström, Anna Enjuanes, Diego Cortese, Aron Skaftason, Eugen Tausch, Katerina Stano Kozubik, Ferran Nadeu, Marine Armand, Jikta Malcikova, Tatjana Pandzic, Jade Forster, Zadie Davis, David Oscier, Davide Rossi, Paolo Ghia, Jonathan C. Strefford, Sarka Pospisilova, Stephan Stilgenbauer, Frederic Davi, Elias Campo, Kostas Stamatopoulos, Richard Rosenquist, European Research Initiative on CLL (ERIC)
Publikováno v:
Haematologica, Vol 106, Iss 3 (2020)
Next-generation sequencing (NGS) has transitioned from research to clinical routine, yet the comparability of different technologies for mutation profiling remains an open question. We performed a European multicenter (n=6) evaluation of three amplic
Externí odkaz:
https://doaj.org/article/715f66afe1e34e4ea30982ecf017a715
Autor:
Federica Melazzini, Flavia Palombo, Alessandra Balduini, Daniela De Rocco, Caterina Marconi, Patrizia Noris, Chiara Gnan, Tommaso Pippucci, Valeria Bozzi, Michela Faleschini, Serena Barozzi, Michael Doubek, Christian A. Di Buduo, Katerina Stano Kozubik, Lenka Radova, Giuseppe Loffredo, Sarka Pospisilova, Caterina Alfano, Marco Seri, Carlo L. Balduini, Alessandro Pecci, Anna Savoia
Publikováno v:
Haematologica, Vol 101, Iss 11 (2016)
ETV6-related thrombocytopenia is an autosomal dominant thrombocytopenia that has been recently identified in a few families and has been suspected to predispose to hematologic malignancies. To gain further information on this disorder, we searched fo
Externí odkaz:
https://doaj.org/article/6b19971dee8c490e89c338cc808590ce
Autor:
Trizuljak, Jakub, Kateřina Staňo Kozubík, Radová, Lenka, Pešová, Michaela, Pál, Karol, Réblová, Kamila, Stehlíková, Olga, Smejkal, Petr, Jiřina Zavřelová, Pacejka, Milan, Jiří Mayer, Šárka Pospíšilová, Doubek, Michael
Mutations in the GP1BA gene have been associated with platelet-type von Willebrand disease and Bernard-Soulier syndrome. Here, we report a novel GP1BA mutation in a family with autosomal dominant macrothrombocytopenia and mild bleeding. We performed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::255d4f1aa4c9c184d3b07a4855022ccc
