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1.

0098745 - BC 2008 SIGLE LU eng A - Abstract
Konvička, Martin - Schmitt, T. - Beneš, Jiří
What factors limit the habitat selection by alpine relic butterflies? Genus Erebia in Sudetan Mts. (Czech Republic and Poland).
[Co rozhoduje o habitatové vazbě reliktních vysokohorských motýlů? Rod Erebia v sudetských pohořích České republiky a Polska.]
Abstracts. Luxembourg: National Museum of Natural History, 2007. s. 48-49.
[Phylogeography and Conservation of Postglacial Relicts. 18.10.2007-20.10.2007, Luxembourg]
Institutional research plan: CEZ:AV0Z50070508
Keywords : Erebia
Subject RIV: EH - Ecology, Behaviour
Permanent Link: http://hdl.handle.net/11104/0157572

2.

0470496 - FGÚ 2017 RIV GB eng J - Journal Article
Hartmannová, H. - Piherová, L. - Tauchmannová, Kateřina - Kidd, K. - Acott, P. D. - Crocker, J. F. S. - Oussedik, Y. - Mallet, M. - Hodaňová, K. - Stránecký, V. - Přistoupilová, A. - Barešová, V. - Jedličková, I. - Živná, M. - Sovová, J. - Hůlková, H. - Robins, V. - Vrbacký, Marek - Pecina, Petr - Kaplanová, Vilma - Houštěk, Josef - Mráček, Tomáš - Thibeault, Y. - Bleyer, A. J. - Kmoch, S.
Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.
Human Molecular Genetics. Roč. 25, č. 18 (2016), s. 4062-4079. ISSN 0964-6906. E-ISSN 1460-2083
R&D Projects: GA ČR(CZ) GB14-36804G; GA MŠMT(CZ) LL1204
Institutional support: RVO:67985823
Keywords : Acadian variant of Fanconi syndrome * mitochondrial complex I deficiency * NDUFAF6 * C8ORF38 * non-coding mutation * alternative splicing variant * protein isoforms
Subject RIV: EB - Genetics ; Molecular Biology
Impact factor: 5.340, year: 2016
Permanent Link: http://hdl.handle.net/11104/0269081

3.

0472714 - ÚMG 2017 RIV US eng J - Journal Article
Davidson, A.E. - Lisková, P. - Evans, C.J. - Dudakova, L. - Nosková, L. - Pontikos, N. - Hartmannová, H. - Hodanová, K. - Stránecký, V. - Kozmik, Zbyněk - Levis, H.J. - Idigo, N. - Sasai, N. - Maher, G.J. - Bellingham, J. - Veli, N. - Ebenezer, N.D. - Cheetham, M.E. - Daniels, J.T. - Thaung, C.M.H. - Jirsová, K. - Plagnol, V. - Filipec, M. - Kmoch, S. - Tuft, S.J. - Hardcastle, A.J.
Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2.
American Journal of Human Genetics. Roč. 98, č. 1 (2016), s. 75-89. ISSN 0002-9297. E-ISSN 1537-6605
R&D Projects: GA MŠMT(CZ) ED1.1.00/02.0109; GA MZd(CZ) NT13116; GA MZd(CZ) NV15-28208A; GA MŠMT(CZ) 7F14156
Institutional support: RVO:68378050
Keywords : gene * cells * chromosome-20 * linkage * differentiation * identification * expression * management * membrane * adhesion
Subject RIV: EB - Genetics ; Molecular Biology
Impact factor: 9.025, year: 2016
Permanent Link: http://hdl.handle.net/11104/0269945

4.

0492198 - ÚOCHB 2019 RIV GB eng J - Journal Article
Zikánová, M. - Wahezi, D. - Hay, A. - Stibůrková, B. - Pitts, C. - Mušálková, D. - Škopová, V. - Barešová, V. - Součková, O. - Hodaňová, K. - Živná, M. - Stránecký, V. - Hartmannová, H. - Hnízda, Aleš - Bleyer, A. J. - Kmoch, S.
Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females.
Rheumatology. Roč. 57, č. 7 (2018), s. 1180-1185. ISSN 1462-0324. E-ISSN 1462-0332
Institutional support: RVO:61388963
Keywords : hereditary gout * PRPS1 superactivity * PRPS1 * X-linked inheritance * gouty arthritis
OECD category: Biochemistry and molecular biology
Impact factor: 5.149, year: 2018
Permanent Link: http://hdl.handle.net/11104/0285742

5.

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/11104/0305940

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	International_Journal_of_Cancer_P_Kleiblova_2019.pdf	6	3.9 MB		Publisher’s postprint	require

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.

0524742 - FGÚ 2021 RIV CH eng J - Journal Article
Kubánek, M. - Schimerová, T. - Piherová, L. - Brodehl, A. - Krebsová, A. - Ratnavadivel, S. - Stanasiuk, C. - Hansíková, H. - Zeman, J. - Paleček, T. - Houštěk, Josef - Drahota, Zdeněk - Nůsková, Hana - Mikešová, Jana - Zámečník, J. - Macek Jr., M. - Ridzoň, P. - Malusková, J. - Stránecký, V. - Melenovský, V. - Milting, H. - Kmoch, S.
Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction.
Journal of Clinical Medicine. Roč. 9, č. 4 (2020), č. článku 937. E-ISSN 2077-0383
R&D Projects: GA MZd(CZ) NV17-28784A
Institutional support: RVO:67985823
Keywords : desmin * dilated cardiomyopathy * mitochondrial dysfunction * myopathy * non-ischemic cardiomyopathy * whole exome sequencing
OECD category: Cardiac and Cardiovascular systems
Impact factor: 4.242, year: 2020
Method of publishing: Open access
https://www.mdpi.com/2077-0383/9/4/937
Permanent Link: http://hdl.handle.net/11104/0309045

8.

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

9.

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

10.

0541626 - FGÚ 2022 RIV GB eng J - Journal Article
Oláhová, M. - Peter, B. - Szilagyi, Z. - Diaz-Maldonado, H. - Singh, M. - Sommerville, E. W. - Blakely, E. L. - Collier, J. J. - Hoberg, E. - Stránecký, V. - Hartmannová, H. - Bleyer, A. J. - McBride, K. L. - Bowden, S. A. - Korandová, Zuzana - Pecinová, Alena - Ropers, H.-H. - Kahrizi, K. - Najmabadi, H. - Tarnopolsky, M. A. - Brady, L. I. - Weaver, K. N. - Prada, C. E. - Ounap, K. - Wojcik, M. H. - Pajusalu, S. - Syeda, S. B. - Pais, L. - Estrella, E. A. - Bruels, Ch. C. - Kunkel, L. M. - Kang, P. B. - Bonnen, P. E. - Mráček, Tomáš - Kmoch, S. - Gorman, G. S. - Falkenberg, M. - Gustafsson, C. M. - Taylor, R. W.
POLRMT mutations impair mitochondrial transcription causing neurological disease.
Nature Communications. Roč. 12, č. 1 (2021), č. článku 1135. E-ISSN 2041-1723
R&D Projects: GA MZd(CZ) NV19-07-00149; GA MŠMT(CZ) LQ1604
Research Infrastructure: NCMG II - 90132
Institutional support: RVO:67985823
Keywords : POLRMT * mitochondrial RNA polymerase * mitochondrial transcription * neurological disease
OECD category: Biochemistry and molecular biology
Impact factor: 17.694, year: 2021
Method of publishing: Open access
https://www.nature.com/articles/s41467-021-21279-0
Permanent Link: http://hdl.handle.net/11104/0319159