A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human

Autor Sen, Partha, Gerychova, Romana, Janku, Petr, Jezova, Marta, Valaskova, Iveta, Navarro, Colby, Silva, Iris, Langston, Claire, Welty, Stephen, Belmont, John, Stankiewicz, Pawel
Vydáno 2013

Long-QT founder variant T309I-Kv7.1 with dominant negative pattern may predispose delayed afterdepolarizations under β-adrenergic stimulation

Autor Synková, Iva, Bébarová, Markéta, Andršová, Irena, Chmelikova, Larisa, Švecová, Olga, Hošek, Jan, Pásek, Michal, Vít, Pavel, Valášková, Iveta, Gaillyová, Renata, Navrátil, Rostislav, Novotný, Tomáš
Vydáno v Sci Rep (2021)

Author Correction: Long-QT founder variant T309I-Kv7.1 with dominant negative pattern may predispose delayed afterdepolarizations under β-adrenergic stimulation

Autor Synková, Iva, Bébarová, Markéta, Andršová, Irena, Chmelikova, Larisa, Švecová, Olga, Hošek, Jan, Pásek, Michal, Vít, Pavel, Valášková, Iveta, Gaillyová, Renata, Navrátil, Rostislav, Novotný, Tomáš
Vydáno v Sci Rep (2021)

Towards Clinical Molecular Diagnosis of Inherited Cardiac Conditions: A Comparison of Bench-Top Genome DNA Sequencers

Autor Li, Xinzhong, Buckton, Andrew J., Wilkinson, Samuel L., John, Shibu, Walsh, Roddy, Novotny, Tomas, Valaskova, Iveta, Gupta, Manu, Game, Laurence, Barton, Paul J R., Cook, Stuart A., Ware, James S.
Vydáno 2013

Dystrophin Deficiency Leads to Genomic Instability in Human Pluripotent Stem Cells via NO Synthase-Induced Oxidative Stress

Autor Jelinkova, Sarka, Fojtik, Petr, Kohutova, Aneta, Vilotic, Aleksandra, Marková, Lenka, Pesl, Martin, Jurakova, Tereza, Kruta, Miriama, Vrbsky, Jan, Gaillyova, Renata, Valášková, Iveta, Frák, Ivan, Lacampagne, Alain, Forte, Giancarlo, Dvorak, Petr, Meli, Albano C., Rotrekl, Vladimir
Vydáno v Cells (2019)

Organoids as a Personalized Medicine Tool for Ultra-Rare Mutations in Cystic Fibrosis: the Case of S955P and 1717–2A>G

Autor Silva, Iris AL, Doušová, Tereza, Ramalho, Sofia, Centeio, Raquel, Clarke, Luka A, Railean, Violeta, Botelho, Hugo M, Holubová, Andrea, Valášková, Iveta, Yeh, Jiunn-Tyng, Hwang, Tzyh-Chang, Farinha, Carlos M., Kunzelmann, Karl, Amaral, Margarida D
Vydáno v Biochim Biophys Acta Mol Basis Dis (2020)

Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype

Autor Szafranski, Przemyslaw, Liu, Qian, Karolak, Justyna A., Song, Xiaofei, de Leeuw, Nicole, Faas, Brigitte, Gerychova, Romana, Janku, Petr, Jezova, Marta, Valaskova, Iveta, Gibbs, Kathleen A., Surrey, Lea F., Poisson, Virginie, Bérubé, Denis, Oligny, Luc L., Michaud, Jacques L., Popek, Edwina, Stankiewicz, Paweł
Vydáno v Hum Genet (2019)

Novel FOXF1 mutations in sporadic and familial cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins imply a role for its DNA binding domain

Autor Sen, Partha, Yang, Yaping, Navarro, Colby, Silva, Iris, Szafranski, Przemyslaw, Kolodziejska, Katarzyna E., Dharmadhikari, Avinash V., Mostafa, Hasnaa, Kozakewich, Harry, Kearney, Debra, Cahill, John B., Whitt, Merrissa, Bilic, Masha, Margraf, Linda, Charles, Adrian, Goldblatt, Jack, Gibson, Kathleen, Lantz, Patrick, Garvin, Julian, Petty, John, Kiblawi, Zeina, Zuppan, Craig, McConkie-Rosell, Allyn, McDonald, Marie T., Peterson-Carmichael, Stacey L., Gaede, Jane T., Shivanna, Binoy, Schady, Deborah, Friedlich, Philippe S., Hays, Stephen R., Palafoll, Irene Valenzuela, Siebers-Renelt, Ulrike, Bohring, Axel, Finn, Laura S., Siebert, Joseph R., Galambos, Csaba, Nguyen, Lananh, Riley, Melissa, Chassaing, Nicolas, Vigouroux, Adeline, Rocha, Gustavo, Fernandes, Susana, Brumbaugh, Jane, Roberts, Kari, Ho-ming, Luk, Lo, Ivan, Lam, Stephen, Gerychova, Romana, Jezova, Marta, Valaskova, Iveta, Fellmann, Florence, Afshar, Katayoun, Giannoni, Eric, Muhlethaler, Vincent, Liang, Jinlong, Beckmann, Jacques S., Lioy, Janet, Deshmukh, Hitesh, Srinivasan, Lakshmi, Swarr, Daniel T., Sloman, Melissa, Shaw-Smith, Charles, van Loon, Rosa Laura, Hagman, Cecilia, Sznajer, Yves, Barrea, Catherine, Galant, Christine, Detaille, Thierry, Wambach, Jennifer A., Cole, F. Sessions, Hamvas, Aaron, Prince, Lawrence S., Diderich, Karin E.M., Brooks, Alice S., Verdijk, Rob M., Ravindranathan, Hari, Sugo, Ella, Mowat, David, Baker, Michael L., Langston, Claire, Welty, Stephen, Stankiewicz, Pawel
Vydáno 2013