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 - 2.0581026 - ÚŽFG 2024 RIV CH eng J - Journal Article
Hurník, P. - Režnarová, J. - Chyrá, Z. - Motyka, O. - Putnová Moldovan, Barbora - Čermáková, Z. - Blažek, T. - Fomanek, M. - Gaykalova, D. A. - Buchtová, Marcela - Ševčíková, T. - Štembírek, Jan
Enhancing oral squamous cell carcinoma prediction: the prognostic power of the worst pattern of invasion and the limited impact of molecular resection margins.
Frontiers in Oncology. Roč. 13, Dec 22 (2023), č. článku 1287650. ISSN 2234-943X. E-ISSN 2234-943X
R&D Projects: GA MZd(CZ) NV19-08-00383
Institutional support: RVO:67985904
Keywords : orofacial oncology * squamous cell carcinoma * mutation * surgical margins * biomarkers
OECD category: Oncology
Impact factor: 4.7, year: 2022
Method of publishing: Open access
https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2023.1287650/full
Permanent Link: https://hdl.handle.net/11104/0349684 - 3.0580684 - ÚEM 2024 RIV GB eng J - Journal Article
Corradi, Ch. - Lencioni, G. - Gentiluomo, M. - Felici, A. - Latiano, A. - Kiudelis, G. - van Eijck, C.H.J. - Marta, K. - Lawlor, R.T. - Tavano, F. - Boggi, U. - Dijk, F. - Cavestro, G.M. - Vermeulen, R.C.H. - Hackert, T. - Petrone, M.Ch. - Uzunoglu, F.G. - Archibugi, L. - Izbicki, J.R. - Morelli, L. - Zerbi, A. - Landi, S. - Stocker, H. - Talar-Wojnarowska, R. - Di Franco, G. - Vodička, Pavel … Total 62 authors
Polymorphic variants involved in methylation regulation: a strategy to discover risk loci for pancreatic ductal adenocarcinoma.
Journal of Medical Genetics. Roč. 60, č. 10 (2023), s. 980-986. ISSN 0022-2593. E-ISSN 1468-6244
Institutional support: RVO:68378041
Keywords : DNA methylation * genetic variation * genetics * molecular epidemiology * germ-line mutation
OECD category: Human genetics
Impact factor: 4, year: 2022
Method of publishing: Limited access
https://jmg.bmj.com/content/60/10/980
Permanent Link: https://hdl.handle.net/11104/0350868 - 4.0576183 - ÚOCHB 2024 RIV GB eng J - Journal Article
Stringer, Robin Nicholas - Cmarko, Leoš - Zamponi, G. W. - De Waard, M. - Weiss, N.
Electrophysiological characterization of a Cav3.2 calcium channel missense variant associated with epilepsy and hearing loss.
Molecular Brain. Roč. 16, č. 1 (2023), č. článku 68. E-ISSN 1756-6606
R&D Projects: GA MŠMT(CZ) LX22NPO5104
Institutional support: RVO:61388963
Keywords : Cav3.2 * CACNA1H * calcium channels * channelopathy * epilepsy * hearing * ion channels * mutation * T-type channels
OECD category: Biochemistry and molecular biology
Impact factor: 3.6, year: 2022
Method of publishing: Open access
https://doi.org/10.1186/s13041-023-01058-2
Permanent Link: https://hdl.handle.net/11104/0345776File Download Size Commentary Version Access 10.1186s13041-023-01058-2.pdf 0 1.7 MB Publisher’s postprint open-access - 5.0572429 - ÚMG 2024 RIV US eng J - Journal Article
Janušová, Šárka - Krchlíková, Veronika - Hron, Tomáš - Elleder, Daniel - Štěpánek, Ondřej
Identification of GC-rich LAT genes in birds.
PLoS ONE. Roč. 18, č. 4 (2023), č. článku e0283431. ISSN 1932-6203. E-ISSN 1932-6203
R&D Projects: GA MŠMT(CZ) LX22NPO5103
Institutional support: RVO:68378050
Keywords : T-CELL-RECEPTOR * ACTIVATION * LINKER * PHOSPHORYLATION * MUTATION * PROTEINS
OECD category: Biochemistry and molecular biology
Impact factor: 3.7, year: 2022
Method of publishing: Open access
https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0283431
Permanent Link: https://hdl.handle.net/11104/0343162File Download Size Commentary Version Access plosone_Janusova_23.pdf 1 1.3 MB Publisher’s postprint open-access - 6.0570872 - ÚFCH JH 2024 RIV GB eng J - Journal Article
Pokorná, Šárka - Khersonsky, O. - Lipsh-Sokolik, R. - Goldenzweig, A. - Nielsen, R. - Ashani, Y. - Peleg, Y. - Unger, T. - Albeck, S. - Dym, O. - Tirosh, A. - Tarayra, R. - Hocquemiller, M. - Laufer, R. - Ben-Dor, S. - Silman, I. - Sussman, J. L. - Fleishman, S. J. - Futerman, A. H.
Design of a stable human acid-β-glucosidase: towards improved Gaucher disease therapy and mutation classification.
FEBS Journal. Roč. 290, č. 13 (2023), s. 3383-3399. ISSN 1742-464X. E-ISSN 1742-4658
Institutional support: RVO:61388955
Keywords : Gaucher disease * gene therapy * in silico mutation classification * pross * Rosetta * SNPs
OECD category: Physical chemistry
Impact factor: 5.4, year: 2022
Method of publishing: Open access
Permanent Link: https://hdl.handle.net/11104/0342198File Download Size Commentary Version Access 0570872.pdf 0 1.6 MB open access Publisher’s postprint open-access - 7.0569308 - BFÚ 2024 RIV CH eng J - Journal Article
Bidula, S. - Brázda, Václav
Genomic Analysis of Non-B Nucleic Acids Structures in SARS-CoV-2: Potential Key Roles for These Structures in Mutability, Translation, and Replication?
Genes. Roč. 14, č. 1 (2023), č. článku 157. E-ISSN 2073-4425
R&D Projects: GA ČR(CZ) GA22-21903S
Institutional support: RVO:68081707
Keywords : SARS-CoV-2 * inverted repeats * G-quadruplex * pseudoknot * spike protein * mutation * adaptation
OECD category: Genetics and heredity (medical genetics to be 3)
Impact factor: 3.5, year: 2022
Method of publishing: Open access
https://www.mdpi.com/2073-4425/14/1/157
Permanent Link: https://hdl.handle.net/11104/0344340 - 8.0567736 - BFÚ 2024 RIV US eng J - Journal Article
Dobrovolná, Michaela - Brázda, Václav - Warner, E. F. - Bidula, S.
Inverted repeats in the monkeypox virus genome are hot spots for mutation.
Journal of Medical Virology. Roč. 95, č. 1 (2023). ISSN 0146-6615. E-ISSN 1096-9071
Institutional support: RVO:68081707
Keywords : apobec * evolution * inverted repeats * monkeypox * mutation
OECD category: Virology
Impact factor: 12.7, year: 2022
Method of publishing: Open access
https://onlinelibrary.wiley.com/doi/10.1002/jmv.28322
Permanent Link: https://hdl.handle.net/11104/0344248 - 9.0567282 - ÚEM 2023 RIV CH eng J - Journal Article
Dušek, J. - Nedvědová, L. - Scheinost, O. - Hanzl, M. - Kantorová, E. - Fendrstatová, E. - Šrám, Radim - Kotoučková, L. - Voráček, J.
Frequency of Leiden Mutation in Newborns with Birth Weight below 1500 g.
HEALTHCARE-BASEL. Roč. 10, č. 5 (2022), č. článku 865. E-ISSN 2227-9032
R&D Projects: GA MŠMT(CZ) EF16_019/0000798
Institutional support: RVO:68378041
Keywords : leiden mutation * thrombophilia * APC resistance * premature birth
OECD category: Public and environmental health
Impact factor: 2.8, year: 2022
Method of publishing: Open access
https://www.mdpi.com/2227-9032/10/5/865
Permanent Link: https://hdl.handle.net/11104/0338554 - 10.0566109 - ÚMG 2023 RIV GB eng J - Journal Article
Cihlářová, Zuzana - Kubovčiak, Jan - Sobol, Margaryta - Krejčíková, Kateřina - Šáchová, Jana - Kolář, Michal - Staněk, David - Bařinka, Cyril - Yoon, G. - Caldecott, Keith - Hanzlíková, Hana
BRAT1 links Integrator and defective RNA processing with neurodegeneration.
Nature Communications. Roč. 13, č. 1 (2022), č. článku 5026. E-ISSN 2041-1723
R&D Projects: GA ČR GA22-00885S; GA ČR GA21-04132S; GA MŠMT(CZ) EF16_019/0000785; GA MŠMT(CZ) LM2018129; GA MŠMT(CZ) EF18_046/0016045; GA MŠMT(CZ) ED1.1.00/02.0109
Research Infrastructure: Czech-BioImaging II - 90129
Institutional support: RVO:68378050 ; RVO:86652036
Keywords : Multifocal seizure syndromelethal * Lethal neonatal regidity * Histone messenger-RNAS * Transcription * Complex * Association * Disruption * Mutation
OECD category: Cell biology; Cell biology (BTO-N)
Impact factor: 16.6, year: 2022
Method of publishing: Open access
https://www.nature.com/articles/s41467-022-32763-6
Permanent Link: https://hdl.handle.net/11104/0337543