Search results
- 1.0576835 - ÚMG 2024 RIV US eng J - Journal Article
Stolařová, Lenka - Kleiblová, P. - Zemánková, P. - Šťastná, B. - Janatová, M. - Soukupová, J. - Achatz, M. I. - Ambrosone, Ch. - Apostolou, P. - Arun, K. B. - Auer, P. - Barnard, M. - Bertelsen, B. - Japan, B. - Blok, M. J. - Boddicker, N. - Brunet, J. - Burnside, E. S. - Calvello, M. - Campbell, I. - Chan, S. H. - Chen, F. - Chiang, J. B. - Coppa, A. - Cortesi, L. - Crujeiras-Gonzalez, A. - Leeneer, K. D. - Putter, R. D. - DePersia, A. - Macůrek, Libor - Kleibl, Z. … Total 112 authors
ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.
Clinical Cancer Research. Roč. 29, č. 16 (2023), s. 3037-3050. ISSN 1078-0432. E-ISSN 1557-3265
R&D Projects: GA MŠMT LX22NPO5102; GA MZd NV19-03-00279
Institutional support: RVO:68378050
Keywords : breast cancer risk * Germline pathogenic variants * CHEK2 * germline genetic testing
OECD category: Cell biology
Impact factor: 11.5, year: 2022
Method of publishing: Open access
https://aacrjournals.org/clincancerres/article/29/16/3037/728222/ENIGMA-CHEK2gether-Project-A-Comprehensive-Study
Permanent Link: https://hdl.handle.net/11104/0346232File Download Size Commentary Version Access clinical cancer research-stolarova l.-23.pdf 1 18.8 MB Publisher’s postprint open-access - 2.0571430 - ÚMG 2024 RIV CH eng J - Journal Article
Otahalová, B. - Volková, Z. - Soukupová, J. - Kleiblová, P. - Janatová, M. - Vočka, M. - Macůrek, Libor - Kleibl, Z.
Importance of Germline and Somatic Alterations in Human MRE11, RAD50, and NBN Genes Coding for MRN Complex.
International Journal of Molecular Sciences. Roč. 24, č. 6 (2023), č. článku 5612. ISSN 1661-6596
R&D Projects: GA MZd NU22-03-00276; GA MŠMT LX22NPO5102
Institutional support: RVO:68378050
Keywords : atld * DNA repair * hereditary cancer syndromes * mre11 * nbn * nbs * nbsld * ngs * rad50 * tp53 * variant interpretation
OECD category: Biochemistry and molecular biology
Impact factor: 5.6, year: 2022
Method of publishing: Open access
https://www.mdpi.com/1422-0067/24/6/5612
Permanent Link: https://hdl.handle.net/11104/0342653File Download Size Commentary Version Access ijms-Otahalova_B_23.pdf 0 4 MB Publisher’s postprint open-access - 3.0539741 - ÚMG 2021 RIV CH eng J - Journal Article
Stolařová, Lenka - Jelinkova, S. - Štorchová, Radka - Machackova, E. - Zemankova, P. - Vocka, M. - Kodet, O. - Král, J. - Černá, M. - Volková, Z. - Janatová, M. - Soukupová, J. - Stránecký, V. - Dundr, P. - Foretová, L. - Macůrek, Libor - Kleiblová, P. - Kleibl, Z.
Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes.
Biomedicines. Roč. 8, č. 10 (2020), č. článku 404. E-ISSN 2227-9059
R&D Projects: GA MZd NV16-30954A; GA MZd NV19-03-00279
Institutional support: RVO:68378050
Keywords : melanoma * familial melanoma * hereditary cancer predisposition * germline mutations * panel sequencing * ngs
OECD category: Oncology
Impact factor: 6.081, year: 2020
Method of publishing: Open access
https://www.mdpi.com/2227-9059/8/10/404
Permanent Link: http://hdl.handle.net/11104/0317441 - 4.0539738 - ÚMG 2021 RIV CH eng J - Journal Article
Stolařová, Lenka - Kleiblová, P. - Janatová, M. - Soukupová, J. - Zemankova, P. - Macůrek, Libor - Kleibl, Z.
CHEK2 Germline Variants in Cancer Predisposition: Stalemate Rather than Checkmate.
Cells. Roč. 9, č. 12 (2020), č. článku 2675. E-ISSN 2073-4409
R&D Projects: GA MZd NV19-03-00279
Institutional support: RVO:68378050
Keywords : checkpoint kinase 2 * chk2 * chek2 * kap1 * wip1 * germline mutation * hereditary cancer * breast cancer * prostate cancer * renal cancer * thyroid cancer * colorectal cancer
OECD category: Oncology
Impact factor: 6.600, year: 2020
Method of publishing: Open access
https://www.mdpi.com/2073-4409/9/12/2675
Permanent Link: http://hdl.handle.net/11104/0317439 - 5.0539594 - ÚMG 2021 RIV CH eng J - Journal Article
Lhotova, K. - Stolárová, L. - Zemankova, P. - Vočka, M. - Janatová, M. - Borecka, M. - Černá, M. - Jelinkova, S. - Král, J. - Volková, Z. - Urbanová, M. - Kleiblová, P. - Macháčková, E. - Foretová, L. - Hazova, J. - Vašíčková, P. - Lhota, F. - Koudova, M. - Černá, L. - Tavandzis, S. - Indrakova, J. - Hruskova, L. - Kosarova, M. - Vrtel, R. - Stránecký, V. - Kmoch, S. - Zikan, M. - Macůrek, Libor - Kleibl, Z. - Soukupová, J.
Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer.
Cancers (Basel). Roč. 12, č. 4 (2020), č. článku 956. E-ISSN 2072-6694
Institutional support: RVO:68378050
Keywords : ovarian cancer * next-generation sequencing * predisposition genes * cancer risk * mutation
OECD category: Oncology
Impact factor: 6.639, year: 2020
Method of publishing: Open access
https://www.mdpi.com/2072-6694/12/4/956
Permanent Link: http://hdl.handle.net/11104/0317302 - 6.0523673 - ÚMG 2020 RIV CZ cze J - Journal Article
Kleiblová, P. - Stolařová, L. - Křížová, Kateřina - Lhota, F. - Hojný, J. - Zemánková, P. - Havránek, O. - Vočka, M. - Černá, M. - Lhotová, K. - Borecká, M. - Janatová, M. - Soukupová, J. - Ševčík, J. - Zimovjanová, M. - Kotlas, J. - Panczak, A. - Veselá, K. - Červenková, J. - Schneiderová, M. - Burocziová, Monika - Burdová, Kamila - Stránecký, V. - Foretová, L. - Macháčková, E. - Tavandzis, S. - Kmoch, S. - Macůrek, Libor - Kleibl, Z.
Dědičné mutace v genu CHEK2 jako příčina dispozice k nádorům prsu - typy mutací, jejich biologická a klinická relevance.
[Germline CHEK2 Gene Mutations in Hereditary Breast Cancer Predisposition - Mutation Types and their Biological and Clinical Relevance.]
Klinická onkologie. Roč. 32, č. 2 (2019), 2S36-2S50. ISSN 0862-495X
Institutional support: RVO:68378050
Keywords : Brest carcinoma, , , , * CHEK2 * hereditary mutation * variant of uncertain significance * functional analysis
OECD category: Oncology
Method of publishing: Limited access
Permanent Link: http://hdl.handle.net/11104/0307984 - 7.0520680 - ÚMG 2020 RIV GB eng J - Journal Article
Burocziová, Monika - Burdová, Kamila - Martiníková, Andra Stefania - Kašpárek, Petr - Kleiblová, P. - Danielsen, S.A. - Borecka, M. - Jeníková, Gabriela - Janečková, Lucie - Pavel, Jozef - Zemankova, P. - Schneiderová, M. - Schwarzová, L. - Tichá, I. - Sun, X.-F. - Jirásková, Kateřina - Liška, V. - Vodičková, Ludmila - Vodička, Pavel - Sedláček, Radislav - Kleibl, Z. - Lothe, R. A. - Kořínek, Vladimír - Macůrek, Libor
Truncated PPM1D impairs stem cell response to genotoxic stress and promotes growth of APC-deficient tumors in the mouse colon.
Cell Death & Disease. Roč. 10, č. 11 (2019), č. článku 818. ISSN 2041-4889. E-ISSN 2041-4889
R&D Projects: GA ČR GA16-19437S; GA ČR(CZ) GA18-09709S; GA MŠMT 7F14061; GA MŠMT(CZ) LM2015040; GA MŠMT(CZ) ED1.1.00/02.0109; GA MŠMT ED2.1.00/19.0395
Institutional support: RVO:68378050 ; RVO:68378041
Keywords : dna-damage response * multiple intestinal neoplasia * consensus molecular subtypes * wip1 phosphatase * wip1-dependent regulation * cancer cells * mutations * gene * breast * tumorigenesis
OECD category: Cell biology; Cell biology (UEM-P)
Impact factor: 6.304, year: 2019
Method of publishing: Open access
https://www.nature.com/articles/s41419-019-2057-4
Permanent Link: http://hdl.handle.net/11104/0305939File Download Size Commentary Version Access Cell_Death_Disease_M_Burocziova_2019.pdf 3 4.3 MB Publisher’s postprint require - 8.0508568 - ÚMG 2020 RIV US eng J - Journal Article
Kleiblová, P. - Stolárová, L. - Křížová, Kateřina - Lhota, F. - Hojný, J. - Zemankova, P. - Havranek, O. - Vocka, M. - Černá, M. - Lhotova, K. - Borecka, M. - Janatová, M. - Soukupová, J. - Ševčík, J. - Zimovjanová, M. - Kotlas, J. - Panczak, A. - Veselá, K. - Červenková, J. - Schneiderová, M. - Burocziová, Monika - Burdová, Kamila - Stránecký, V. - Foretová, L. - Machackova, E. - Tavandzis, S. - Kmoch, S. - Macůrek, Libor - Kleibl, Z.
Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer.
International Journal of Cancer. Roč. 145, č. 7 (2019), s. 1782-1797. ISSN 0020-7136. E-ISSN 1097-0215
R&D Projects: GA MŠMT(CZ) LQ1604
Institutional support: RVO:68378050
Keywords : breast cancer * ovarian cancer * germline mutations * chek2 * vus * kap1 * functional assay
OECD category: Human genetics
Impact factor: 5.145, year: 2019
Method of publishing: Limited access
https://onlinelibrary.wiley.com/doi/abs/10.1002/ijc.32385
Permanent Link: http://hdl.handle.net/11104/0305940File Download Size Commentary Version Access International_Journal_of_Cancer_P_Kleiblova_2019.pdf 6 3.9 MB Publisher’s postprint require - 9.0423172 - ÚMG 2014 RIV US eng J - Journal Article
Kleiblová, P. - Shaltiel, I.A. - Benada, Jan - Ševčík, J. - Pecháčková, Soňa - Pohlreich, P. - Voest, E.E. - Dundr, P. - Bártek, Jiří - Kleibl, Z. - Medema, R.H. - Macůrek, Libor
Gain-of-function mutations of PPM1D/Wip1 impair the p53-dependent G1 checkpoint.
Journal of Cell Biology. Roč. 201, č. 4 (2013), s. 511-521. ISSN 0021-9525. E-ISSN 1540-8140
R&D Projects: GA ČR GAP301/10/1525; GA ČR GAP305/12/2485; GA ČR GA13-18392S
Grant - others:GA MZd(CZ) NT13343; EK(XE) 223575; EK(XE) ED0030/01/01
Institutional support: RVO:68378050
Keywords : DNA damage * cell cycle * cancer
Subject RIV: EB - Genetics ; Molecular Biology
Impact factor: 9.786, year: 2013
Permanent Link: http://hdl.handle.net/11104/0229361File Download Size Commentary Version Access 0423172.pdf 10 4.1 MB Publisher’s postprint require 0423172.pdf 6 3.2 MB Publisher’s postprint require - 10.0394847 - BFÚ 2014 RIV US eng J - Journal Article
Ševčík, J. - Falk, Martin - Macůrek, Libor - Kleiblová, P. (ed.) - Lhota, F. (ed.) - Hojný, J. - Štefančíková, Lenka - Janatová, M. - Bártek, Jiří (ed.) - Stříbrná, J. - Hodný, Zdeněk - Ježková, L. - Pohlreich, P. - Kleibl, Z.
Expression of human BRCA1 Delta 17-19 alternative splicing variant with a truncated BRCT domain in MCF-7 cells results in impaired assembly of DNA repair complexes and aberrant DNA damage response.
Cellular Signalling. Roč. 25, č. 5 (2013), s. 1186-1193. ISSN 0898-6568. E-ISSN 1873-3913
R&D Projects: GA ČR(CZ) GAP301/10/1525; GA ČR(CZ) GBP302/12/G157
Grant - others:GA ČR(CZ) GAP301/12/1850
Program: GA
Institutional support: RVO:68081707 ; RVO:68378050
Keywords : STRAND BREAK REPAIR * INDUCED NUCLEAR FOCI * OVARIAN-CANCER
Subject RIV: BO - Biophysics; EB - Genetics ; Molecular Biology (UMG-J)
Impact factor: 4.471, year: 2013
Permanent Link: http://hdl.handle.net/11104/0223008