Informace o projektu
Nové mechanizmy vzniku fatálních kostních ciliopatií u člověka
- Kód projektu
- LH15231
- Období řešení
- 1/2016 - 12/2017
- Investor / Programový rámec / typ projektu
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Ministerstvo školství, mládeže a tělovýchovy ČR
- KONTAKT II (od projektů s počátkem řešení v roce 2011)
- Fakulta / Pracoviště MU
- Lékařská fakulta
The short rib polydactyly syndromes (SRPS) are frequently lethal conditions affecting skeletal development. Although they are broadly characterized as ciliopathies, most of the SRPS result from unknown biologic mechanisms. Elucidation of these mechanisms provides an invaluable opportunity to understand the primary cilia function. The team of Deborah Krakow at the University of California in Los Angeles has recently defined several SRPS genes in a cohort of 150 cases collected over the last 30 years. The team of Pavel Krejci at Masaryk University has developed novel experimental approaches to study the primary cilia, particularly focused on the skeleton. This project proposes a unique collaboration between two complementary teams to elucidate novel mechanisms in SRPS pathology.
Publikace
Počet publikací: 10
2020
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Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling
EMBO MOLECULAR MEDICINE, rok: 2020, ročník: 12, vydání: 11, DOI
2019
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Fibroblast growth factor receptor influences primary cilium length through an interaction with intestinal cell kinase
Proceedings of the National Academy of Sciences of the United States of America, rok: 2019, ročník: 116, vydání: 10, DOI
2018
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Nanodiamonds as "artificial proteins": Regulation of a cell signalling system using low nanomolar solutions of inorganic nanocrystals
Biomaterials, rok: 2018, ročník: 176, vydání: SEP 2018, DOI
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Proteomic analyses of signalling complexes associated with receptor tyrosine kinase identify novel members of fibroblast growth factor receptor 3 interactome
Cellular Signalling, rok: 2018, ročník: 42, vydání: JAN 2018, DOI
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Regulation of ciliary function by fibroblast growth factor signaling identifies FGFR3-related disorders achondroplasia and thanatophoric dysplasia as ciliopathies
Human molecular genetics, rok: 2018, ročník: 27, vydání: 6, DOI
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The inositol phosphatase SHIP2 enables sustained ERK activation downstream of FGF receptors by recruiting Src kinases
SCIENCE SIGNALING, rok: 2018, ročník: 11, vydání: 548, DOI
2017
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A Novel Role for the BMP Antagonist Noggin in Sensitizing Cells to Non-canonical Wnt-5a/Ror2/Disheveled Pathway Activation
Frontiers in Cell and Developmental Biology, rok: 2017, ročník: 5, vydání: MAY, DOI
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Inhibitor repurposing reveals ALK, LTK, FGFR, RET and TRK kinases as the targets of AZD1480
Oncotarget, rok: 2017, ročník: 8, vydání: 65, DOI
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One reporter for in-cell activity profiling of majority of protein kinase oncogenes
eLife, rok: 2017, ročník: 6, vydání: "e21536", DOI
2016
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An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome
Human Molecular Genetics, rok: 2016, ročník: 25, vydání: 18, DOI