Search results
- 1.0584843 - ÚMG 2025 US eng J - Journal Article
Sunny, Sweetu Susan - Láchová, Jitka - Kašpárek, P. - Pálková, Marcela - Špoutil, František - Procházka, Jan - Sedláček, Radislav - Lišková, P. - Kozmik, Zbyněk
Ovol2 promoter mutations in mice and human illuminate species-specific phenotypic divergence.
Human Molecular Genetics. Roč. 33, č. 6 (2024), s. 491-500. ISSN 0964-6906. E-ISSN 1460-2083
R&D Projects: GA ČR GA21-27364S; GA MŠMT(CZ) LM2018126; GA MŠMT LM2023036; GA MŠMT EF18_046/0015861; GA MŠMT ED2.1.00/19.0395; GA MŠMT(CZ) ED1.1.00/02.0109
Institutional support: RVO:68378050
Keywords : polymorphous corneal-dystrophy * epithelial-mesenchymal transition * noncoding mutations * drosophila-ovo * expression * zeb1 * gene * classification * identification * suppression * cornea * ppcd1 * Ovol2 * pathogenic variant * corneal endothelium
OECD category: Biochemistry and molecular biology
Impact factor: 3.5, year: 2022
Method of publishing: Limited access
https://academic.oup.com/hmg/article-abstract/33/6/491/7424510?redirectedFrom=fulltext&login=false
Permanent Link: https://hdl.handle.net/11104/0352866 - 2.0583694 - ÚMG 2025 GB eng J - Journal Article
Kvapilová, K. - Misenko, P. - Radvanszky, J. - Brzon, O. - Budis, J. - Gazdarica, J. - Pos, O. - Korabecna, M. - Kašný, M. - Szemes, T. - Kvapil, P. - Pačes, Jan - Kozmik, Zbyněk
Validated WGS and WES protocols proved saliva-derived gDNA as an equivalent to blood-derived gDNA for clinical and population genomic analyses.
BMC Genomics. Roč. 25, č. 1 (2024), č. článku 187. ISSN 1471-2164. E-ISSN 1471-2164
Institutional support: RVO:68378050
Keywords : Genomics variant analysis * Saliva-derived gDNA * Whole genome sequencing * Whole exome sequencing * Validation guideline
OECD category: Biochemistry and molecular biology
Impact factor: 4.4, year: 2022
Method of publishing: Open access
https://bmcgenomics.biomedcentral.com/articles/10.1186/s12864-024-10080-0
Permanent Link: https://hdl.handle.net/11104/0352871 - 3.0578356 - ÚMG 2024 RIV US eng J - Journal Article
Kemmler, C. L. - Smolíková, Jana - Moran, H. R. - Mannion, B. J. - Knapp, D. - Lim, F. - Czarkwiani, A. - Aguayo, V. H. - Rapp, V. - Fitch, O. E. - Botschi, S. - Selleri, L. - Farley, E. - Braasch, I. - Yun, M. - Visel, A. - Osterwalder, M. - Mosimann, C. - Kozmik, Zbyněk - Burger, A.
Conserved enhancers control notochord expression of vertebrate Brachyury.
Nature Communications. Roč. 14, č. 1 (2023), s. 6594. E-ISSN 2041-1723
R&D Projects: GA MŠMT(CZ) LM2018126; GA MŠMT ED2.1.00/19.0395; GA MŠMT(CZ) ED1.1.00/02.0109; GA ČR GA23-07056S
Institutional support: RVO:68378050
Keywords : transcription factors * Brachyury/T/TBXT * notochord expression
OECD category: Biochemistry and molecular biology
Impact factor: 16.6, year: 2022
Method of publishing: Open access
https://www.nature.com/articles/s41467-023-42151-3
Permanent Link: https://hdl.handle.net/11104/0347411 - 4.0571759 - ÚMG 2024 RIV CH eng J - Journal Article
Kuželová, Andrea - Dupačová, Naoko - Antošová, Barbora - Sunny, Sweetu Susan - Kozmik Jr, Zbyněk - Pačes, Jan - Skoultchi, A. - Stopka, T. - Kozmik, Zbyněk
Chromatin Remodeling Enzyme Snf2h Is Essential for Retinal Cell Proliferation and Photoreceptor Maintenance.
Cells. Roč. 12, č. 7 (2023), č. článku 1035. E-ISSN 2073-4409
R&D Projects: GA ČR GA21-27364S; GA MZd NU22-05-00374; GA MŠMT LX22NPO5102
Institutional support: RVO:68378050
Keywords : Snf2h * Smarca5 * retina * photoreceptors * cell cycle * apoptosis
OECD category: Biochemistry and molecular biology
Impact factor: 6, year: 2022
Method of publishing: Open access
https://www.mdpi.com/2073-4409/12/7/1035
Permanent Link: https://hdl.handle.net/11104/0343046File Download Size Commentary Version Access cells-kuzelova-23.pdf 0 21.9 MB Publisher’s postprint open-access - 5.0568318 - ÚMG 2023 RIV US eng J - Journal Article
Sunny, Sweetu Susan - Láchová, Jitka - Dupačová, Naoko - Kozmik, Zbyněk
Multiple roles of Pax6 in postnatal cornea development.
Developmental Biology. Roč. 491, Nov (2022), s. 1-12. ISSN 0012-1606. E-ISSN 1095-564X
R&D Projects: GA MŠMT(CZ) LM2018126; GA MŠMT ED2.1.00/19.0395; GA MŠMT(CZ) ED1.1.00/02.0109; GA ČR GA21-27364S
Institutional support: RVO:68378050
Keywords : eye * development * cornea * pax6 * conditional knockout * E-cadherin * Keratins
OECD category: Biology (theoretical, mathematical, thermal, cryobiology, biological rhythm), Evolutionary biology
Impact factor: 2.7, year: 2022
Method of publishing: Limited access
https://www.sciencedirect.com/science/article/abs/pii/S0012160622001580?via%3Dihub
Permanent Link: https://hdl.handle.net/11104/0339654 - 6.0564837 - ÚMG 2023 RIV DE eng J - Journal Article
Macháčová, Simona - Kozmik, Zbyněk - Kozmiková, Iryna
Identification of Nodal-dependent enhancer of amphioxus Chordin sufficient to drive gene expression into the chordate dorsal organizer.
Development Genes and Evolution. Roč. 232, č. 5-6 (2022), s. 137-145. ISSN 0949-944X. E-ISSN 1432-041X
R&D Projects: GA ČR GA20-25377S
Institutional support: RVO:68378050
Keywords : Chordin * Gene regulation * Nodal * Organizer of gastrulation * Gene regulation * Enhancer * Amphioxus * Chordate evolution * Light-sheet microscopy
OECD category: Biochemistry and molecular biology
Impact factor: 2.4, year: 2022
Method of publishing: Limited access
https://doi.org/10.1007/s00427-022-00698-z
Permanent Link: https://hdl.handle.net/11104/0338313 - 7.0559756 - ÚMG 2023 RIV CZ eng J - Journal Article
Moravikova, J. - Kozmik, Zbyněk - Hlavatá, L. - Putzova, M. - Skalická, P. - Michaelides, M. - Malinka, F. - Ďuďáková, L. - Lišková, P.
Phenotype Variability in Czech Patients Carrying PAX6 Disease-Causing Variants.
Folia Biologica. Roč. 66, č. 4 (2020), s. 123-132. ISSN 0015-5500. E-ISSN 0015-5500
Institutional support: RVO:68378050
Keywords : aniridia * congenital cataract * PAX6 * exon trapping
OECD category: Biology (theoretical, mathematical, thermal, cryobiology, biological rhythm), Evolutionary biology
Impact factor: 0.906, year: 2020
Method of publishing: Open access
https://fb.cuni.cz/file/5931/fb2020a0017.pdf
Permanent Link: https://hdl.handle.net/11104/0332959 - 8.0558437 - ÚMG 2023 RIV GB eng J - Journal Article
Zhang, K. - Baumann, B. - Song, Y. - Sterling, J. - Erler, E. - Guttha, S. - Kozmik, Zbyněk - Dunaief, J.L.
Conditional knockout of hephaestin in the neural retina disrupts retinal iron homeostasis.
Experimental Eye Research. Roč. 218, May (2022), č. článku 109028. ISSN 0014-4835. E-ISSN 1096-0007
Institutional support: RVO:68378050
Keywords : Retina * Iron * Ferrous * Ceruloplasmin * Hephaestin * Age-related macular degeneration
OECD category: Cell biology
Impact factor: 3.4, year: 2022
Method of publishing: Limited access
https://www.sciencedirect.com/science/article/pii/S0014483522001099?via%3Dihub
Permanent Link: https://hdl.handle.net/11104/0332900 - 9.0556181 - ÚMG 2023 RIV GB eng J - Journal Article
Liu, Y. - Baumann, B. - Song, Y. - Zhang, K. - Sterling, J. - Lakhal-Littleton, S. - Kozmik, Zbyněk - Su, G. - Dunaief, J.L.
Minimal effect of conditional ferroportin KO in the neural retina implicates ferrous iron in retinal iron overload and degeneration.
Experimental Eye Research. Roč. 218, February (2022), č. článku 108988. ISSN 0014-4835. E-ISSN 1096-0007
Institutional support: RVO:68378050
Keywords : Retina * Iron * Ferrous * Ferroportin * Ceruloplasmin * Age-related macular degeneration
OECD category: Ophthalmology
Impact factor: 3.4, year: 2022
Method of publishing: Limited access
https://www.sciencedirect.com/science/article/abs/pii/S0014483522000690?via%3Dihub
Permanent Link: http://hdl.handle.net/11104/0330799 - 10.0555020 - ÚMG 2022 RIV CH eng J - Journal Article
Macháčová, Simona - Chmelová, Helena - Vávrová, Anna - Kozmik, Zbyněk - Kozmiková, Iryna
Optical Clearing and Light Sheet Microscopy Imaging of Amphioxus.
Frontiers in Cell and Developmental Biology. Roč. 9, July (2021), č. článku 702986. ISSN 2296-634X. E-ISSN 2296-634X
R&D Projects: GA ČR GA20-25377S
Institutional support: RVO:68378050
Keywords : amphioxus * light sheet microscopy * clearing technique * whole mount immunohistochemistry * photoreceptor * acetylated tubulin * melanopsin
OECD category: Cell biology
Impact factor: 6.081, year: 2021
Method of publishing: Open access
https://www.frontiersin.org/articles/10.3389/fcell.2021.702986/full
Permanent Link: http://hdl.handle.net/11104/0329638