One reporter for in-cell activity profiling of majority of protein kinase oncogenes

by Iva Gudernova, Silvie Foldynova-Trantirkova, Barbora El Ghannamova, Bohumil Fafilek, Miroslav Varecha, Lukas Balek, Eva Hruba, Lucie Jonatova, Iva Jelinkova, Michaela Kunova Bosakova, Lukas Trantirek, Jiri Mayer, Pavel Krejci
Published 2017-02-01

Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydr...

by Kristina Rücklová, Eva Hrubá, Markéta Pavlíková, Petr Hanák, Martina Farolfi, Petr Chrastina, Hana Vlášková, Bohdan Kousal, Vratislav Smolka, Hana Foltenová, Tomáš Adam, David Friedecký, Pavel Ješina, Jiří Zeman, Viktor Kožich, Tomáš Honzík
Published 2021-08-01

Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling

by Michaela Bosakova, Sara P Abraham, Alexandru Nita, Eva Hruba, Marcela Buchtova, S Paige Taylor, Ivan Duran, Jorge Martin, Katerina Svozilova, Tomas Barta, Miroslav Varecha, Lukas Balek, Jiri Kohoutek, Tomasz Radaszkiewicz, Ganesh V Pusapati, Vitezslav Bryja, Eric T Rush, Isabelle Thiffault, Deborah A Nickerson, Michael J Bamshad, University of Washington Center for Mendelian Genomics, Rajat Rohatgi, Daniel H Cohn, Deborah Krakow, Pavel Krejci
Published 2020-11-01