Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Katerina Stano-Kozubik"'
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:
Šárka Pospíšilová, Jiri Baloun, Sona Mejstrikova, Marketa Zaliova Kubricanova, František Folber, Michael Doubek, Lenka Radová, Zuzana Vrzalová, Katerina Stano Kozubik, Michal Šmída, Michaela Pesova, Kamila Réblová
Publikováno v:
Platelets. 32:838-841
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://explore.openaire.eu/search/publication?articleId=doi_________::f5baed8cee1fe7662b4de3eebdc10467
https://doi.org/10.1080/09537104.2020.1802416
https://doi.org/10.1080/09537104.2020.1802416
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. 32(6)
Germline mutations in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::38169227838a163812f7506f59fdcaab
https://pubmed.ncbi.nlm.nih.gov/32819174
https://pubmed.ncbi.nlm.nih.gov/32819174
Autor:
Katerina Stano Kozubik, Michael Doubek, Lenka Radová, Jakub Trizuljak, Šárka Pospíšilová, Zuzana Vrzalová
Publikováno v:
Blood. 134:2343-2343
Introduction Inherited thrombocytopenias (IT) are a heterogeneous group of 33 different forms of monogenic disorders caused by molecular defects affecting 40 genes at least. The pathogenic germline variants play an important role in the development a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::188d872dcde7ef3e4a6bdd358463e9df
https://doi.org/10.1182/blood-2019-122696
https://doi.org/10.1182/blood-2019-122696
Autor:
Michael Doubek, Katerina Stano Kozubik, Jiri Mayer, Šárka Pospíšilová, Marek Borsky, Boris Tichy, Yvona Brychtová, Katerina Musilova, Marek Mráz, Karla Plevová, Petr Kuglík
Publikováno v:
Leukemia Research
Leukemia Research; Vol 37
Leukemia Research; Vol 37
The technology of array comparative genomic hybridization (array-CGH/aCGH) enabled the identification of novel genomic aberrations in chronic lymphocytic leukemia (CLL) including the monoallelic and biallelic deletions affecting 22q11 locus. In contr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1fedf319d43a7ffed01e3bfa7e1fe5b
https://doi.org/10.1016/j.leukres.2013.03.018
https://doi.org/10.1016/j.leukres.2013.03.018
Autor:
Serena Barozzi, Giuseppe Loffredo, Carlo L. Balduini, Chiara Gnan, Alessandra Balduini, Caterina Marconi, Michael Doubek, Lenka Radová, Christian A. Di Buduo, Federica Melazzini, Caterina Alfano, Anna Savoia, Daniela De Rocco, Valeria Bozzi, Tommaso Pippucci, Flavia Palombo, Marco Seri, Michela Faleschini, Katerina Stano Kozubik, Patrizia Noris, Šárka Pospíšilová, Alessandro Pecci
Publikováno v:
Melazzini, F, Palombo, F, Balduini, A, De Rocco, D, Marconi, C, Noris, P, Gnan, C, Pippucci, T, Bozzi, V, Faleschini, M, Barozzi, S, Doubek, M, Di Buduo, C A, Stano Kozubik, K, Radova, L, Loffredo, G, Pospisilova, S, Alfano, C, Seri, M, Balduini, C L, Pecci, A & Savoia, A 2016, ' Clinical and pathogenetic features of ETV6 related thrombocytopenia with predisposition to acute lymphoblastic leukemia ', Haematologica . https://doi.org/10.3324/haematol.2016.147496
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://explore.openaire.eu/search/publication?articleId=doi_dedup___::83233113a8ad149287cd6d0d49a813d1
https://hdl.handle.net/11368/2896835
https://hdl.handle.net/11368/2896835
Autor:
Jitka Malčíková, Iveta Valášková, Ludmila Bourková, Katerina Stano-Kozubik, Jana Šmardová, Marek Borsky, Hana Skuhrová Francová, Šárka Pospíšilová, Martin Trbušek, Jana Kotašková, Michael Doubek, Viera Hrabčáková, Yvona Brychtová, Jiri Mayer, Boris Tichy
Publikováno v:
Cancer Genetics and Cytogenetics. 189:53-58
B-cell chronic lymphocytic leukemia (CLL) is an incurable disease with a highly variable clinical course. A proportion of patients eventually progress to a higher stage of malignancy. A recent association has been observed between the presence of abe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec9eb45563eacf37f463a58370c0bf6a
https://doi.org/10.1016/j.cancergencyto.2008.10.003
https://doi.org/10.1016/j.cancergencyto.2008.10.003
Autor:
Kvetoslava Liskova, Katerina Stano-Kozubik, Renata Hrabálková, Jana Špeldová, Jitka Malčíková, Miluše Svitáková, Lenka Zlamalikova, Jitka Hausnerová, Jan Šmarda, Jana Šmardová, Barbora Ravčuková, Jiri Jarkovsky, Ivona Blaháková
Publikováno v:
Oncology reports. 35(3)
Lung cancer is the leading cause of cancer-related deaths worldwide. The p53 tumor suppressor is a transcription factor controlling expression of its target genes in response to various stress stimuli. Mutations of the TP53 gene occur very frequently
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e33eb1f7bac837268ceda6013aaab74
https://pubmed.ncbi.nlm.nih.gov/26718964
https://pubmed.ncbi.nlm.nih.gov/26718964