Search results
- 1.0585854 - ÚMG 2025 RIV CH eng J - Journal Article
Jaervelae, V. - Hamze, M. - Komulainen-Ebrahim, J. - Rahikkala, E. - Piispala, J. - Kallio, M. - Kangas, S. M. - Nickl, Tereza - Huttula, M. - Hinttala, R. - Uusimaa, J. - Medina, I. - Immonen, E.
A novel pathogenic SLC12A5 missense variant in epilepsy of infancy with migrating focal seizures causes impaired KCC2 chloride extrusion.
Frontiers in Molecular Neuroscience. Roč. 17, Apr (2024), č. článku 1372662. ISSN 1662-5099. E-ISSN 1662-5099
Institutional support: RVO:68378050
Keywords : k-cl cotransporter * gaba * expression * phosphorylation * mutation * neurons * server * ph * gaba * potassium-chloride co-transporter * chloride * Cl- * epilepsy * neurodevelopmental disorder
OECD category: Biochemistry and molecular biology
Impact factor: 4.8, year: 2022
Method of publishing: Open access
https://www.frontiersin.org/articles/10.3389/fnmol.2024.1372662/full
Permanent Link: https://hdl.handle.net/11104/0353523 - 2.0583232 - 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 - 3.0581026 - 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 - 4.0580684 - 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 - 5.0576183 - 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 - 6.0572429 - 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 - 7.0570872 - 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 - 8.0569308 - 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 - 9.0567736 - 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 - 10.0567282 - 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