Informace o projektu
The role of TMEM107 in craniofacial structures development
- Kód projektu
- GA21-05146S
- Období řešení
- 1/2021 - 12/2023
- Investor / Programový rámec / typ projektu
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Grantová agentura ČR
- Standardní projekty
- Fakulta / Pracoviště MU
- Přírodovědecká fakulta
- Spolupracující organizace
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Ústav živočišné fyziologie a genetiky AV ČR, v. v. i.
Vysoké učení technické v Brně/Středoevropský technologický institut
Transmembrane protein 107 (TMEM107) is localized in the primary cilium and is enriched at the transition zone acting as a key regulator of protein content and composition of the cilium. Mutations in TMEM107 were previously associated with human syndromes exhibiting a wide range of ciliopathic defects. In the proposed project, we will analyze the role of Tmem107 in craniofacial structures development with a special focus on eye and teeth. The project aims to examine craniofacial phenotype in Tmem107-deficient mice and to reveal cellular and molecular mechanisms underlying it. The direct role of Tmem107 in retinal differentiation will be assessed using 3D retinal organoids derived from human pluripotent stem cells and zebrafish model. Tmem107 protein involvement in primary cilia-dependent Hh signaling will be determined on molecular level in both selected models to closely investigate phenotypes associated with region-specific response of craniofacial structures to Tmem107 deficiency. Combination of different approaches will not only help us to understand processes, which are responsible for craniofacial defects initiation in animal and human patients, but also to specifically address the molecular pathways involved in Tmem107-asscociated ciliopathies.
Publikace
Počet publikací: 4
2024
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ChOP-CT: quantitative morphometrical analysis of the Hindbrain Choroid Plexus by X-ray micro-computed tomography
Fluids and Barriers of the CNS, rok: 2024, ročník: 21, vydání: 1, DOI
2023
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Role of ciliopathy protein TMEM107 in eye development: insights from a mouse model and retinal organoid
Life Science Alliance, rok: 2023, ročník: 6, vydání: 12, DOI
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Zebrafish as a model for ciliopathy caused by Tmem107 loss
Rok: 2023, druh: Konferenční abstrakty
2021
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The Role of Ciliophaty Protein Tmem107 in the Vertebrate Eye Development
Rok: 2021, druh: Konferenční abstrakty