Search results
- 1.0519443 - ÚMCH 2021 RIV GB eng J - Journal Article
Arenbergerová, M. - Arenberger, P. - Gkalpakiotis, S. - Sticová, E. - Hůlková, H. - Trhlíková, Olga - Sikora, J.
Palladium causes bizarre skin hyperpigmentation in long‐term dihydrocodeinone ‘Braun’ abusers.
Journal of the European Academy of Dermatology and Venereology. Roč. 34, č. 1 (2020), s. 188-191. ISSN 0926-9959. E-ISSN 1468-3083
Institutional support: RVO:61389013
Keywords : opioids * dihydrocodeinone * palladium
OECD category: Analytical chemistry
Impact factor: 6.166, year: 2020
Method of publishing: Open access
https://onlinelibrary.wiley.com/doi/full/10.1111/jdv.15930
Permanent Link: http://hdl.handle.net/11104/0305387 - 2.0496807 - MBÚ 2019 RIV US eng J - Journal Article
Rybová, J. - Kuchař, L. - Hůlková, H. - Asfaw, B. - Dobrovolný, R. - Sikora, J. - Havlíček, Vladimír - Škultéty, L'udovít - Ledvinová, J.
Specific storage of glycoconjugates with terminal alpha-galactosyl moieties in the exocrine pancreas of Fabry disease patients with blood group B.
Glycobiology. Roč. 28, č. 6 (2018), s. 382-391. ISSN 0959-6658. E-ISSN 1460-2423
R&D Projects: GA MŠMT(CZ) LO1509
Institutional support: RVO:61388971
Keywords : blood group B antigens * ceroid * Fabry disease
OECD category: Biochemistry and molecular biology
Impact factor: 4.194, year: 2018
Permanent Link: http://hdl.handle.net/11104/0289439 - 3.0470496 - 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 - 4.0463462 - 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 - 5.0444865 - MBÚ 2016 RIV DE eng J - Journal Article
Kuchař, L. - Faltýsková, Helena - Ledvinová, J. - Krásný, Lukáš - Dobrovolný, R. - Hůlková, H. - Volný, Michael - Strohalm, Martin - Lemr, Karel - Kryšpínová, L. - Asfaw, B. - Rybová, J. - Desnick, R.J. - Havlíček, Vladimír
Fabry disease: renal sphingolipid distribution in the alpha-Gal A knockout mouse model by mass spectrometric and immunohistochemical imaging.
Analytical and Bioanalytical Chemistry. Roč. 407, č. 8 (2015), s. 2283-2291. ISSN 1618-2642. E-ISSN 1618-2650
R&D Projects: GA MŠMT(CZ) LD13038; GA ČR(CZ) GAP206/12/1150
Institutional support: RVO:61388971
Keywords : Fabry disease * Kidney * Glycosphingolipids
Subject RIV: CE - Biochemistry
Impact factor: 3.125, year: 2015
Permanent Link: http://hdl.handle.net/11104/0247336File Download Size Commentary Version Access Kuchař(Faltýsková)_2015_AnalBioanalChem.pdf 6 1.1 MB Publisher’s postprint require - 6.0440682 - MBÚ 2015 RIV GB eng J - Journal Article
Hůlková, H. - Vlášková, H. - Elleder, M. - Svojanovský, J. - Ševela, K. - Krusová, D. - Hanuš, J. - Souček, M. - Vězda, P. - Márová, I. - Feit, J. - Zambo, I. - Kovačevicova, M. - Kostrouchová, V. - Kostrouch, Z. - Novák, Petr
Systemic AL amyloidosis with unusual cutaneous presentation unmasked by carotenoderma.
Amyloid-Journal of Protein Folding Disorders. Roč. 21, č. 5 (2014), s. 57-61. ISSN 1350-6129. E-ISSN 1744-2818
R&D Projects: GA MŠMT ED1.1.00/02.0109; GA MŠMT(CZ) EE2.3.20.0055; GA MŠMT LO1211; GA MŠMT EE2.3.30.0003
Grant - others:Masaryk University, Brno(CZ) MUNI/A/1012/2009; GA MŠk(CZ) Prvouk-P27/LF1/1; Karlova Universita(CZ) UNCE 20422; Universita Karlova(CZ) UNCE 204011; Universita Karlova(CZ) PRVOUK-P24/LF1/3
Institutional support: RVO:61388971
Keywords : alzheimer * gene * amyloidosis
Subject RIV: EC - Immunology
Impact factor: 2.010, year: 2014
Permanent Link: http://hdl.handle.net/11104/0243783 - 7.0314176 - MBÚ 2009 RIV NL eng J - Journal Article
Vyleťal, P. - Hůlková, H. - Živná, M. - Berná, L. - Novák, Petr - Elleder, M. - Kmoch, S.
Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy.
[Nepřirozená produkce a opracování uromodulinu u pacientů majících Fabryho chorobu je odrazem jeho skladování a úpravy tubulárními buňkami, tento jev je vrátný za podmínek enzymatické léčby.]
Journal of Inherited Metabolic Disease. Roč. 31, č. 4 (2008), s. 508-517. ISSN 0141-8955. E-ISSN 1573-2665
Institutional research plan: CEZ:AV0Z50200510
Keywords : uromodulin * fabry disease * tubular cell
Subject RIV: EE - Microbiology, Virology
Impact factor: 2.691, year: 2008
Permanent Link: http://hdl.handle.net/11104/0164766 - 8.0141712 - FGU-C 980093 RIV CZ cze J - Journal Article
Stratilová, J. - Zeman, J. - Hansíková, H. - Houštěk, Josef - Heřmanská, Jana - Dudková, Z. - Konrádová, V. - Hůlková, H. - Elleder, M.
Mitochondriální myopatie, hluchota a diabetes mellitus 2.typu na podkladě bodové mutace tRNA Leu(UUR) v mitochondriální DNA.
[Mitochondrial myopathies, deafness and diabetes mellitus type 2 based on the point mutation in tRNA Leu(UUR) in mitochondrial DNA.]
Časopis lékařů českých. Roč. 137, č. 14 (1998), s. 430-433. ISSN 0008-7335
R&D Projects: GA MZd IZ4179; GA MZd IZ4035
Grant - others:GA UK(CZ) 156/97
Subject RIV: ED - Physiology
Permanent Link: http://hdl.handle.net/11104/0039433