Cilia kinases in skeletal development and homeostasis

Autor: Sara P. Abraham, Pavel Krejci, Michaela Bosakova, Alexandru Nita

Publikováno v: Developmental dynamics : an official publication of the American Association of AnatomistsREFERENCES. 251(4)

Primary cilia are dynamic compartments that regulate multiple aspects of cellular signaling. The production, maintenance, and function of cilia involve more than 1000 genes in mammals, and their mutations disrupt the ciliary signaling which manifests

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c5d1ad89a7989ca20b5f7013b611ab6
https://pubmed.ncbi.nlm.nih.gov/34582081

Fibroblast growth factor receptor influences primary cilium length through an interaction with intestinal cell kinase

Autor: Bohumil Fafilek, Peter Konik, Iva Gudernova, Jennifer Zieba, Miroslav Varecha, Sara P. Abraham, Tomas Gregor, Ivan Duran, David Šmajs, Gert Jansen, Marketa Tomanova, Pavel Krejci, So Hyun Park, Jieun Song, Tomáš Bárta, Deborah Krakow, Lukas Balek, Alexandru Nita, David Potesil, Zheng Fu, Neha Basheer, Hyuk Wan Ko, Aleš Hampl, Michaela Bosakova, Jana Kučerová, Juraj Bosák, Lukáš Trantírek, Zbynek Zdrahal

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the U.S.A., 116(10), 4316-4325. National Academy of Sciences

Significance A properly functioning primary cilium is prerequisite for both normal development and aging of all ciliated organisms, including humans. In vertebrates, the signaling of Hedgehog family morphogens depends entirely on primary cilium. Rece

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::837d1a7db436aa04d141b528ac31c912
http://europepmc.org/articles/PMC6410813

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

Autor: Marcela Buchtová, Jiri Kohoutek, Ganesh V. Pusapati, Katerina Svozilova, Isabelle Thiffault, Ivan Duran, Lukas Balek, Pavel Krejci, Sara P. Abraham, Michael J. Bamshad, Daniel H. Cohn, Deborah Krakow, Michaela Bosakova, S. Paige Taylor, Tomáš Bárta, Deborah A. Nickerson, Vitezslav Bryja, Tomasz Witold Radaszkiewicz, Eva Hrubá, Eric T. Rush, Miroslav Varecha, Alexandru Nita, Rajat Rohatgi, Jorge H. Martin

Publikováno v: EMBO Molecular Medicine
EMBO Molecular Medicine, Vol 12, Iss 11, Pp n/a-n/a (2020)

Mutations in genes affecting primary cilia cause ciliopathies, a diverse group of disorders often affecting skeletal development. This includes Jeune syndrome or asphyxiating thoracic dystrophy (ATD), an autosomal recessive skeletal disorder. Unravel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::208e6515d54d4288226d733a8d34fa33
https://pubmed.ncbi.nlm.nih.gov/33200460

Elucidation of protein interactions necessary for the maintenance of the BCR-ABL signaling complex

Autor: Nicole H. Cernohorsky, Silvie Foldynová-Trantírková, Bohumil Fafilek, Daniela Zackova, Lukáš Trantírek, Alexandru Nita, Jan Ryneš, Sara P. Abraham, Jiri Mayer, Michaela Bosakova, Tomas Gregor, Pavel Krejci

Publikováno v: Cellular and molecular life sciences : CMLS. 77(19)

Many patients with chronic myeloid leukemia in deep remission experience return of clinical disease after withdrawal of tyrosine kinase inhibitors (TKIs). This suggests signaling of inactive BCR-ABL, which allows the survival of cancer cells, and rel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be5fdbd70c1dc04b10a836a03d8f4437
https://pubmed.ncbi.nlm.nih.gov/31820037