Search results
- 1.0541626 - 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 - 2.0492198 - 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 - 3.0472714 - 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 - 4.0470496 - FGÚ 2017 RIV GB eng J - Journal Article
Hartmannová, H. - Piherová, L. - Tauchmannová, Kateřina - Kidd, K. - Acott, P. D. - Crocker, J. F. S. - Oussedik, Y. - Mallet, M. - Hodaňová, K. - Stránecký, V. - Přistoupilová, A. - Barešová, V. - Jedličková, I. - Živná, M. - Sovová, J. - Hůlková, H. - Robins, V. - Vrbacký, Marek - Pecina, Petr - Kaplanová, Vilma - Houštěk, Josef - Mráček, Tomáš - Thibeault, Y. - Bleyer, A. J. - Kmoch, S.
Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.
Human Molecular Genetics. Roč. 25, č. 18 (2016), s. 4062-4079. ISSN 0964-6906. E-ISSN 1460-2083
R&D Projects: GA ČR(CZ) GB14-36804G; GA MŠMT(CZ) LL1204
Institutional support: RVO:67985823
Keywords : Acadian variant of Fanconi syndrome * mitochondrial complex I deficiency * NDUFAF6 * C8ORF38 * non-coding mutation * alternative splicing variant * protein isoforms
Subject RIV: EB - Genetics ; Molecular Biology
Impact factor: 5.340, year: 2016
Permanent Link: http://hdl.handle.net/11104/0269081 - 5.0463462 - ÚOCHB 2017 RIV US eng J - Journal Article
Bolar, N. A. - Golzio, C. - Živná, M. - Hayot, G. - Van Hemelrijk, C. - Schepers, D. - Vandeweyer, G. - Hoischen, A. - Huyghe, J. R. - Raes, A. - Matthys, E. - Sys, E. - Azou, M. - Gubler, M. C. - Praet, M. - Van Camp, G. - McFadden, K. - Pediaditakis, I. - Přistoupilová, A. - Hodaňová, K. - Vyleťal, P. - Hartmannová, H. - Stránecký, V. - Hůlková, H. - Barešová, V. - Jedličková, I. - Sovová, J. - Hnízda, Aleš - Kidd, K. - Bleyer, A. J. - Spong, R. S. - Vande Walle, J. - Mortier, G. - Brunner, H. - Van Laer, L. - Kmoch, S. - Katsanis, N. - Loeys, B. L.
Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.
American Journal of Human Genetics. Roč. 99, č. 1 (2016), s. 174-187. ISSN 0002-9297. E-ISSN 1537-6605
R&D Projects: GA MŠMT(CZ) LO1304
Institutional support: RVO:61388963
Keywords : Sec61 * tubulo-interstitial kidney disease * rare disease
Subject RIV: EB - Genetics ; Molecular Biology
Impact factor: 9.025, year: 2016
http://www.sciencedirect.com/science/article/pii/S0002929716301999
Permanent Link: http://hdl.handle.net/11104/0262678 - 6.0359610 - FGÚ 2012 RIV NL eng J - Journal Article
Hejzlarová, Kateřina - Tesařová, M. - Vrbacká-Čížková, A. - Vrbacký, Marek - Hartmannová, H. - Kaplanová, Vilma - Nosková, L. - Kratochvílová, H. - Buzková, J. - Havlíčková, Vendula - Zeman, J. - Kmoch, S. - Houštěk, Josef
Expression and processing of the TMEM70 protein.
Biochimica Et Biophysica Acta-Bioenergetics. Roč. 1807, č. 1 (2011), s. 144-149. ISSN 0005-2728. E-ISSN 1879-2650
R&D Projects: GA MZd(CZ) NS9759; GA MŠMT(CZ) 1M0520; GA ČR(CZ) GAP303/11/0970
Grant - others:UK(CZ) 259089; UK(CZ) 56209; UK(CZ) 37710
Institutional research plan: CEZ:AV0Z50110509
Keywords : mitochondria * ATP synthase * TMEM70 * biogenesis * import
Subject RIV: EB - Genetics ; Molecular Biology
Impact factor: 4.843, year: 2011
Permanent Link: http://hdl.handle.net/11104/0197366 - 7.0346537 - FZÚ 2011 RIV CH eng J - Journal Article
Rezek, Bohuslav - Ukraintsev, Egor - Kromka, Alexander - Ledinský, Martin - Brož, A. - Nosková, L. - Hartmannová, H. - Kalbáčová, M.
Assembly of osteoblastic cell micro-arrays on diamond guided by protein pre-adsorption.
Diamond and Related Materials. Roč. 19, 2-3 (2010), s. 153-157. ISSN 0925-9635. E-ISSN 1879-0062
R&D Projects: GA MŠMT(CZ) LC06040; GA AV ČR KAN400100701; GA MŠMT LC510
Institutional research plan: CEZ:AV0Z10100521
Keywords : diamond * proteins * cell adhesion * atomic force microscopy * Raman spectroscopy * biomaterials
Subject RIV: BM - Solid Matter Physics ; Magnetism
Impact factor: 1.825, year: 2010
Permanent Link: http://hdl.handle.net/11104/0187545 - 8.0318461 - ÚMG 2009 RIV GB eng J - Journal Article
Čížková, Alena - Stránecký, V. - Ivánek, Robert - Hartmannová, H. - Nosková, L. - Piherová, L. - Tesařová, M. - Hansíková, H. - Honzík, T. - Zeman, J. - Divina, Petr - Potocká, A. - Paul, J. - Sperl, W. - Mayr, J. A. - Seneca, S. - Houštěk, J. - Kmoch, S.
Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency.
[Vývoj lidského mitochondriálního oligonukleotidového čipu (h-MitoArray).]
BMC Genomics. Roč. 9, - (2008), s. 38-38. ISSN 1471-2164. E-ISSN 1471-2164
R&D Projects: GA ČR(CZ) GD303/03/H065; GA ČR(CZ) GA303/07/0781
Grant - others:GA MZd(CZ) NR8069
Institutional research plan: CEZ:AV0Z50110509; CEZ:AV0Z50520514
Keywords : microarray * mitochondria * F1Fo ATP synthase deficiency
Subject RIV: EB - Genetics ; Molecular Biology
Impact factor: 3.926, year: 2008
Permanent Link: http://hdl.handle.net/11104/0167870 - 9.0315194 - FGÚ 2009 RIV US eng J - Journal Article
Čížková, Alena - Stránecký, V. - Mayr, J. A. - Tesařová, M. - Havlíčková, Vendula - Paul, Jan - Ivánek, R. - Kuss, A. W. - Hansíková, H. - Kaplanová, Vilma - Vrbacký, Marek - Hartmannová, H. - Nosková, L. - Honzík, T. - Drahota, Zdeněk - Magner, M. - Hejzlarová, Kateřina - Sperl, W. - Zeman, J. - Houštěk, Josef - Kmoch, S.
TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.
[Mutace genu TMEM70 jsou příčinou izolovaného defektu ATP syntázy a vedou k neonatální mitochondriální encefalokardiomyopatii.]
Nature Genetics. Roč. 40, č. 11 (2008), s. 1288-1290. ISSN 1061-4036. E-ISSN 1546-1718
R&D Projects: GA MŠMT(CZ) 1M0520; GA ČR GD305/08/H037; GA ČR(CZ) GD303/03/H065
Grant - others:Univerzita Karlova(CZ) 97807
Institutional research plan: CEZ:AV0Z50110509
Keywords : ATPase biogenesis * TMEM70 * mitochondrial disease
Subject RIV: EB - Genetics ; Molecular Biology
Impact factor: 30.259, year: 2008
Permanent Link: http://hdl.handle.net/11104/0165465 - 10.0153293 - MBU-M 990151 RIV NL eng J - Journal Article
Krijt, J. - Kmoch, S. - Hartmannová, H. - Havlíček, Vladimír - Šebesta, I.
Identification and determination of succinyladenosine in human cerebrospinal fluid.
Journal of Chromatography-B. Roč. 726, - (1999), s. 53-58. ISSN 0378-4347
R&D Projects: GA MZd IZ3608; GA MŠMT VS96127
Subject RIV: EE - Microbiology, Virology
Impact factor: 1.666, year: 1999
Permanent Link: http://hdl.handle.net/11104/0050798