Search results
- 1.0583232 - FGÚ 2025 RIV US eng J - Journal Article
Šilhavý, Jan - Mlejnek, Petr - Šimáková, Miroslava - Liška, František - Malínská, H. - Marková, I. - Hüttl, M. - Miklánková, D. - Mušálková, D. - Stránecký, V. - Kmoch, S. - Sticová, E. - Vrbacký, Marek - Mráček, Tomáš - Pravenec, Michal
Spontaneous nonsense mutation in the tuftelin 1 gene is associated with abnormal hair appearance and amelioration of glucose and lipid metabolism in the rat.
Physiological Genomics. Roč. 56, č. 1 (2024), s. 65-73. ISSN 1094-8341. E-ISSN 1531-2267
R&D Projects: GA MŠMT(CZ) LX22NPO5104; GA MŠMT(CZ) LUAUS23095; GA ČR(CZ) GA21-18993S
Research Infrastructure: NCMG III - 90267
Institutional support: RVO:67985823
Keywords : hepatic proteome * lipid and glucose metabolism * rat * spontaneous nonsense mutation * tuftelin 1 gene * Tuft1
OECD category: Cardiac and Cardiovascular systems
Impact factor: 4.6, year: 2022
https://doi.org/10.1152/physiolgenomics.00084.2023
Permanent Link: https://hdl.handle.net/11104/0351234File Download Size Commentary Version Access 24_0012_0583232.pdf 3 2 MB Publisher’s postprint open-access - 2.0567469 - ÚMG 2023 RIV CH eng J - Journal Article
Součková, O. - Škopová, V. - Barešová, V. - Sedlák, David - Bleyer, A. J. - Kmoch, S. - Zikánová, M.
Metabolites of De Novo Purine Synthesis: Metabolic Regulators and Cytotoxic Compounds.
Metabolites. Roč. 12, č. 12 (2022), č. článku 1210. E-ISSN 2218-1989
R&D Projects: GA MŠMT(CZ) LM2018130
Research Infrastructure: NCMG II - 90132
Institutional support: RVO:68378050
Keywords : purine synthesis * pfas * paics * adsl * atic * cytotoxicity * fgar * air * saicar * aicar
OECD category: Biochemistry and molecular biology
Impact factor: 4.1, year: 2022
Method of publishing: Open access
https://www.mdpi.com/2218-1989/12/12/1210
Permanent Link: https://hdl.handle.net/11104/0338718 - 3.0541626 - 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 - 4.0539594 - 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 - 5.0524742 - 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 - 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 - 7.0522814 - ÚMG 2020 RIV GB eng J - Journal Article
Pelet, A. - Škopová, V. - Steuerwald, U. - Barešová, V. - Zarhrate, M. - Plaza, J. - M. - Hnízda, A. - Krijt, M. - Součková, O. - Wibrand, F. - Andorsdottir, G. - Joensen, F. - Sedlák, David - Bleyer, A. J. - Kmoch, S. - Lyonnet, S. - Zikanov, M.
PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome.
Human Molecular Genetics. Roč. 28, č. 22 (2019), s. 3805-3814. ISSN 0964-6906. E-ISSN 1460-2083
R&D Projects: GA MŠMT(CZ) LQ1604; GA MŠMT LM2015063
Institutional support: RVO:68378050
Keywords : aica-ribosiduria * adenylosuccinate * mutations * ribotide * adsl
OECD category: Genetics and heredity (medical genetics to be 3)
Impact factor: 5.101, year: 2019
Method of publishing: Limited access
https://academic.oup.com/hmg/article/28/22/3805/5584440
Permanent Link: http://hdl.handle.net/11104/0307242 - 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 - 9.0492198 - 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 - 10.0472714 - 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