Zobrazeno 1 - 10
of 43
pro vyhledávání: '"Iveta Valášková"'
Autor:
Iva Synková, Markéta Bébarová, Irena Andršová, Larisa Chmelikova, Olga Švecová, Jan Hošek, Michal Pásek, Pavel Vít, Iveta Valášková, Renata Gaillyová, Rostislav Navrátil, Tomáš Novotný
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)
Abstract The variant c.926C > T (p.T309I) in KCNQ1 gene was identified in 10 putatively unrelated Czech families with long QT syndrome (LQTS). Mutation carriers (24 heterozygous individuals) were more symptomatic compared to their non-affected relati
Externí odkaz:
https://doaj.org/article/78136d3d7b394d9da2840cbe7a5654c8
Autor:
Iva Synková, Markéta Bébarová, Irena Andršová, Larisa Chmelikova, Olga Švecová, Jan Hošek, Michal Pásek, Pavel Vít, Iveta Valášková, Renata Gaillyová, Rostislav Navrátil, Tomáš Novotný
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-3 (2021)
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Externí odkaz:
https://doaj.org/article/7c77c1c50fb8444f9500e1f8d6f47bde
Autor:
Sarka Jelinkova, Petr Fojtik, Aneta Kohutova, Aleksandra Vilotic, Lenka Marková, Martin Pesl, Tereza Jurakova, Miriama Kruta, Jan Vrbsky, Renata Gaillyova, Iveta Valášková, Ivan Frák, Alain Lacampagne, Giancarlo Forte, Petr Dvorak, Albano C. Meli, Vladimir Rotrekl
Publikováno v:
Cells, Vol 8, Iss 1, p 53 (2019)
Recent data on Duchenne muscular dystrophy (DMD) show myocyte progenitor’s involvement in the disease pathology often leading to the DMD patient’s death. The molecular mechanism underlying stem cell impairment in DMD has not been described. We cr
Externí odkaz:
https://doaj.org/article/281f75eead514e94bca7293ac89a6fc7
Autor:
Martina Klincová, Dagmar Štěpánková, Ivana Schröderová, Eva Klabusayová, Edita Ošťádalová, Iveta Valášková, Lenka Fajkusová, Jana Zídková, Renata Gaillyová, Petr Štourač
Publikováno v:
British journal of anaesthesia. 129(2)
Autor:
Michal Pásek, Iva Synková, Larisa Chmelikova, Rostislav Navrátil, Renata Gaillyová, Irena Andršová, Olga Švecová, Pavel Vít, Iveta Valášková, Jan Hošek, Markéta Bébarová, Tomáš Novotný
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-3 (2021)
Scientific Reports
Scientific Reports
The variant c.926C T (p.T309I) in KCNQ1 gene was identified in 10 putatively unrelated Czech families with long QT syndrome (LQTS). Mutation carriers (24 heterozygous individuals) were more symptomatic compared to their non-affected relatives (17 ind
Autor:
Sofia Ramalho, Karl Kunzelmann, Hugo M. Botelho, Tzyh Chang Hwang, Jiunn Tyng Yeh, Iveta Valášková, Tereza Doušová, Luka A. Clarke, A. Holubová, Carlos M. Farinha, Iris A.L. Silva, Margarida D. Amaral, R. Centeio, Violeta Railean
Publikováno v:
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease
Biochim Biophys Acta Mol Basis Dis
Biochim Biophys Acta Mol Basis Dis
BACKGROUND: For most of the >2,000 CFTR gene variants reported, neither the associated disease liability nor the underlying basic defect are known, and yet these are essential for disease prognosis and CFTR-based therapeutics. Here we aimed to charac
Publikováno v:
Journal of Cystic Fibrosis. 19:S15-S16
Autor:
Xiaofei Song, Romana Gerychová, Jacques L. Michaud, Justyna A. Karolak, Qian Liu, Denis Bérubé, Brigitte H. W. Faas, Przemyslaw Szafranski, Nicole de Leeuw, Kathleen Gibbs, Petr Janku, Marta Jezova, Edwina J. Popek, Luc L. Oligny, Lea F. Surrey, Iveta Valášková, Virginie Poisson, Pawel Stankiewicz
Publikováno v:
Human Genetics, 138, 1301-1311
Hum Genet
Human Genetics, 138, 11-12, pp. 1301-1311
Hum Genet
Human Genetics, 138, 11-12, pp. 1301-1311
Item does not contain fulltext Haploinsufficiency of FOXF1 causes alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV), a lethal neonatal lung developmental disorder. We describe two similar heterozygous CNV deletions involving
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14fe0cd7c149f1d488140223005a07bb
http://hdl.handle.net/2066/215578
http://hdl.handle.net/2066/215578
Autor:
Martin Pešl, Lenka Jurikova, Eva Makaturová, Vladimír Rotrekl, Iveta Valášková, Petr Dvorak, Lenka Marková, Petr Vondráček, Alain Lacampagne, Šárka Jelínková, Albano C. Meli
Publikováno v:
STEM CELL RESEARCH
Stem Cell Research
Stem Cell Research, 2019, 40, pp.101562. ⟨10.1016/j.scr.2019.101562⟩
Stem Cell Research, Vol 40, Iss, Pp-(2019)
Stem Cell Research, Elsevier, 2019, 40, pp.101562. ⟨10.1016/j.scr.2019.101562⟩
Stem Cell Research
Stem Cell Research, 2019, 40, pp.101562. ⟨10.1016/j.scr.2019.101562⟩
Stem Cell Research, Vol 40, Iss, Pp-(2019)
Stem Cell Research, Elsevier, 2019, 40, pp.101562. ⟨10.1016/j.scr.2019.101562⟩
Duchenne muscular dystrophy (DMD) affects 1:3500–5000 newborn boys and manifests with progressive skeletal muscle wasting, respiratory failure and eventual heart failure. Symptoms show different onset from patients' childhood to the second decade o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4677f5cfcd04a6d413fc8fb02bf40a41
https://is.muni.cz/publication/1579778
https://is.muni.cz/publication/1579778
Autor:
Martin Pešl, Jan Vrbsky, Renata Gaillyová, Lenka Marková, Aleksandra Vilotić, Ivan Frák, Giancarlo Forte, Albano C. Meli, Iveta Valášková, Alain Lacampagne, Aneta Kohutova, Miriama Krutá, Tereza Jurakova, Petr Dvorak, Vladimír Rotrekl, Petr Fojtík, Šárka Jelínková
Publikováno v:
Cells
Cells, MDPI, 2019, 8 (1), pp.53. ⟨10.3390/cells8010053⟩
Volume 8
Issue 1
Cells, Vol 8, Iss 1, p 53 (2019)
Cells, 2019, 8 (1), pp.53. ⟨10.3390/cells8010053⟩
Cells, MDPI, 2019, 8 (1), pp.53. ⟨10.3390/cells8010053⟩
Volume 8
Issue 1
Cells, Vol 8, Iss 1, p 53 (2019)
Cells, 2019, 8 (1), pp.53. ⟨10.3390/cells8010053⟩
International audience; Recent data on Duchenne muscular dystrophy (DMD) show myocyte progenitor’s involvement in the disease pathology often leading to the DMD patient’s death. The molecular mechanism underlying stem cell impairment in DMD has n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67a1a64496f8a2c22a21e0860cd62f87
https://hal.archives-ouvertes.fr/hal-01986076
https://hal.archives-ouvertes.fr/hal-01986076