Search results
- 1.0543446 - ÚMG 2022 RIV US eng J - Journal Article
Gewartowska, O. - Aranaz Novalichez, Goretti - Krawczyk, P.S. - Mroczek, S. - Kusio-Kobialka, M. - Tarkowski, B. - Špoutil, František - Benada, Oldřich - Kofroňová, Olga - Szwedziak, P. - Cysewski, D. - Gruchota, J. - Szpila, M. - Chlebowski, A. - Sedláček, Radislav - Procházka, Jan - Dziembowski, A.
Cytoplasmic polyadenylation by TENT5A is required for proper bone formation.
Cell Reports. Roč. 35, č. 3 (2021), č. článku 109015. ISSN 2211-1247. E-ISSN 2211-1247
R&D Projects: GA MŠMT(CZ) LM2015040; GA MŠMT(CZ) LM2018126; GA MŠMT EF16_013/0001789; GA MŠMT ED2.1.00/19.0395; GA MŠMT(CZ) ED1.1.00/02.0109; GA ČR GJ19-19025Y
Institutional support: RVO:68378050 ; RVO:61388971
Keywords : FAM46A * Nanopore * TENT5A * collagen * direct RNA sequencing * osteoblasts * osteogenesis * osteogenesis imperfecta * poly(A) tail * polyadenylation
OECD category: Cell biology; Cell biology (MBU-M)
Impact factor: 9.995, year: 2021
Method of publishing: Limited access
https://www.cell.com/cell-reports/fulltext/S2211-1247(21)00329-6?_returnURL=https%3A%2F%2Flinkinghub.elsevier.com%2Fretrieve%2Fpii%2FS2211124721003296%3Fshowall%3Dtrue
Permanent Link: http://hdl.handle.net/11104/0320651 - 2.0539808 - ÚMG 2021 RIV US eng J - Journal Article
Swan, A.L. - Rozman, Jan - Procházka, Jan - Špoutil, František - Sedláček, Radislav … Total 65 authors
Mouse mutant phenotyping at scale reveals novel genes controlling bone mineral density.
PLoS Genetics. Roč. 16, č. 12 (2020), č. článku e1009190. ISSN 1553-7404. E-ISSN 1553-7404
R&D Projects: GA MŠMT(CZ) LM2015040; GA MŠMT(CZ) LM2018126; GA MŠMT(CZ) ED1.1.00/02.0109; GA MŠMT ED2.1.00/19.0395; GA MŠMT EF16_013/0001789
Institutional support: RVO:68378050
Keywords : GENOME-WIDE ASSOCIATION * OSTEOGENESIS IMPERFECTA * ANIMAL-MODELS * SEX * COLLAGEN * DIFFERENTIATION * IDENTIFICATION * METAANALYSIS * DISCOVERY * MUTATION
OECD category: Technologies involving identifying the functioning of DNA, proteins and enzymes and how they influence the onset of disease and maintenance of well-being (gene-based diagnostics and therapeutic interventions (pharmacogenomics, gene-based therapeutics)
Impact factor: 5.917, year: 2020
Method of publishing: Open access
https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1009190
Permanent Link: http://hdl.handle.net/11104/0317508 - 3.0373487 - ÚI 2012 RIV CZ eng J - Journal Article
Šormová, L. - Mazura, Ivan
Osteogenesis Imperfecta Type I-IV, the Collagenous Disorder of Connective Tissue in Czech Population.
European Journal for Biomedical Informatics. Roč. 7, č. 1 (2011), s. 59-64. ISSN 1801-5603
R&D Projects: GA MŠMT(CZ) 1M06014
Institutional research plan: CEZ:AV0Z10300504
Keywords : osteogenesis imperfecta * collagen type I * COL1A1 * COL1A2 * MLBR * mutations
Subject RIV: IN - Informatics, Computer Science
Permanent Link: http://hdl.handle.net/11104/0206577 - 4.0316150 - ÚI 2009 RIV US eng A - Abstract
Mazura, Ivan - Mařík, I. - Zemková, D. - Nutsu-Mazura, F. - Hudáková, O. - Novosad, P. - Zvárová, Jana
Comparison of Molecular Genetic and Anhropometric Study in a Cohort of Czech Osteogenesis Imperfecta Patients.
[Srovnání molekulárně genetické a antropometrické studie u českých pacientů s osteogenesis imperfecta.]
58th Annual Meeting of the American Society of Human Genetics. Baltimore: ASHG, 2008. s. 113-113.
[Annual Meeting of the American Society of Human Genetics /58./. 11.11.2008-15.11.2008, Philadelphia]
R&D Projects: GA MŠMT(CZ) 1M06014
Institutional research plan: CEZ:AV0Z10300504
Keywords : collagen genes * osteogenesis imperfecta * anthropometric data
Subject RIV: EB - Genetics ; Molecular Biology
Permanent Link: http://hdl.handle.net/11104/0166155 - 5.0314063 - ÚI 2009 RIV CZ cze J - Journal Article
Šormová, L. - Mazurová, F. - Mazura, Ivan
Vliv typu mutace v genu COL1A1 na fenotyp osob s diagnózou osteogenesis imperfecta.
[Effects of Mutation Type in Gene COL1A1 on Phenotype Patients with Diagnosis Osteogenesis Imperfecta.]
Pohybové ústrojí. Roč. 15, 3-4 (2008), s. 332-338. ISSN 1212-4575.
[Diagnostic, Comprehensive Treatment and Biomechanics of Locomotor Effects. Prague-Sydney-Lublin Symposium /10./. Prague, 24.09.2008-25.09.2008]
R&D Projects: GA MŠMT(CZ) 1M06014
Institutional research plan: CEZ:AV0Z10300504
Keywords : osteogenesis imperfecta * COL1A1 * kolagen * kolagenopatie * mutace
Subject RIV: EB - Genetics ; Molecular Biology
Permanent Link: http://hdl.handle.net/11104/0164694 - 6.0314028 - ÚI 2009 CZ cze A - Abstract
Sluková, V. - Mazurová, F. - Mazura, Ivan
Vliv typu mutace v genu COL1A2 na klinický obraz pacientů s osteogenesis imperfecta.
Pohybové ústrojí. Roč. 15, 3-4 (2008), s. 338-338. ISSN 1212-4575.
[Diagnostic, Comprehensive Treatment and Biomechanics of Locomotor Effects. Prague-Sydney-Lublin Symposium /10./. 24.09.2008-25.09.2008, Prague]
Institutional research plan: CEZ:AV0Z10300504
Keywords : osteogenesis imperfecta * kolagen * COL1A2 * regionální model
Subject RIV: EB - Genetics ; Molecular Biology
Permanent Link: http://hdl.handle.net/11104/0164667 - 7.0305368 - ÚI 2008 US eng A - Abstract
Mazura, Ivan - Mařík, I. - Mazurová, F. - Barešová, V. - Mazurová, S. - Hudáková, O. - Novosad, P.
Genotype - Phenotype Correlation in Czech Osteogenesis Imperfecta Patients.
[Vzájemný vztah genotyp - fenotyp v souboru českých pacientů s osteogenesis imperfecta.]
57th Annual Meeting of American Society of Human Genetics. Rockville Pike: ASHG, 2007. s. 151-151.
[Annual Meeting of American Society of Human Genetics /57./. 23.10.2007-27.10.2007, San Diego]
R&D Projects: GA MŠMT LN00B107
Institutional research plan: CEZ:AV0Z10300504
Keywords : osteogenesis imperfecta * collagen molecules * genetic analysis
Permanent Link: http://hdl.handle.net/11104/0158684