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Autor
Adameyko, Igor 1 Andersson, Olov 1 Batkovskyte, Dominyka 1 Chagin, Andrei S 1 Deviatiiarov, Ruslan 1 Fried, Kaj 1 Gazizova, Guzel 1 Gershtein, Yaakov 1 Gusev, Oleg 1 Ivashkin, Evgeny 1 Kaiser, Jozef 1 Kaiser, Markéta 1 Kerckhofs, Greet 1 Newton, Phillip T 1 Schnyder, Daniela 1 Shagimardanova, Elena 1 Xie, Meng 1 Zeberg, Hugo 1 Zikmund, Tomáš 1
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Pracoviště
A N Severtsov Institute of Ecology an... 1 Astrid Lindgren Children's hospital S... 1 Biomechanics Lab Institute of Mechani... 1 Central European Institute of Technol... 1 Centre for Bone and Arthritis Researc... 1 Department of Biosciences and Nutriti... 1 Department of Cell and Molecular Biol... 1 Department of Developmental and Compa... 1 Department of Materials Engineering K... 1 Department of Neuroimmunology Center ... 1 Department of Neuroscience Karolinska... 1 Department of Physiology and Pharmaco... 1 Department of Women's and Children's ... 1 Endocrinology Research Center Moscow ... 1 Intractable Disease Research Center J... 1 Life Improvement by Future Technologi... 1 Pole of Morphology Institute of Exper... 1 Prometheus Division for Skeletal Tiss... 1 Regulatory Genomics Research Center K... 1 School of Psychological and Cognitive... 1
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Autor
Adameyko, Igor 1 Andersson, Olov 1 Batkovskyte, Dominyka 1 Chagin, Andrei S 1 Deviatiiarov, Ruslan 1 Fried, Kaj 1 Gazizova, Guzel 1 Gershtein, Yaakov 1 Gusev, Oleg 1 Ivashkin, Evgeny 1 Kaiser, Jozef 1 Kaiser, Markéta 1 Kerckhofs, Greet 1 Newton, Phillip T 1 Schnyder, Daniela 1 Shagimardanova, Elena 1 Xie, Meng 1 Zeberg, Hugo 1 Zikmund, Tomáš 1
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Pracoviště
A N Severtsov Institute of Ecology an... 1 Astrid Lindgren Children's hospital S... 1 Biomechanics Lab Institute of Mechani... 1 Central European Institute of Technol... 1 Centre for Bone and Arthritis Researc... 1 Department of Biosciences and Nutriti... 1 Department of Cell and Molecular Biol... 1 Department of Developmental and Compa... 1 Department of Materials Engineering K... 1 Department of Neuroimmunology Center ... 1 Department of Neuroscience Karolinska... 1 Department of Physiology and Pharmaco... 1 Department of Women's and Children's ... 1 Endocrinology Research Center Moscow ... 1 Intractable Disease Research Center J... 1 Life Improvement by Future Technologi... 1 Pole of Morphology Institute of Exper... 1 Prometheus Division for Skeletal Tiss... 1 Regulatory Genomics Research Center K... 1 School of Psychological and Cognitive... 1
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Xie, Meng
Autor Xie, Meng ORCID Department of Physiology and Pharmacology, Karolinska Institutet, Stockholm, Sweden Department of Biosciences and Nutrition, Karolinska Institute, Flemingsberg, Sweden School of Psychological and Cognitive Sciences, PKU-IDG/McGovern Institute for Brain Research, Peking University, Beijing, China
- Kaiser, Markéta
- Gershtein, Yaakov
- Schnyder, Daniela
- Deviatiiarov, Ruslan
- Gazizova, Guzel
- Shagimardanova, Elena
- Zikmund, Tomáš
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Kerckhofs, Greet
Autor Kerckhofs, Greet Biomechanics Lab, Institute of Mechanics, Materials, and Civil Engineering (iMMC), UCLouvain, Louvain-la-Neuve, Belgium Pole of Morphology, Institute of Experimental and Clinical Research (IREC), UCLouvain, Woluwe, Belgium Department of Materials Engineering, KU Leuven, Leuven, Belgium Prometheus, Division for Skeletal Tissue Engineering, KU Leuven, Leuven, Belgium
- Ivashkin, Evgeny
NLK
Directory of Open Access Journals
od 2015
Free Medical Journals
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Nature Open Access
od 2010-12-01
PubMed Central
od 2012
Europe PubMed Central
od 2012
ProQuest Central
od 2010-01-01
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od 2015-01-01
Open Access Digital Library
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Medline Complete (EBSCOhost)
od 2012-11-01
Health & Medicine (ProQuest)
od 2010-01-01
ROAD: Directory of Open Access Scholarly Resources
od 2010
PubMed
38531868
DOI
10.1038/s41467-024-46030-3
Knihovny.cz E-zdroje
The development of craniofacial skeletal structures is fascinatingly complex and elucidation of the underlying mechanisms will not only provide novel scientific insights, but also help develop more effective clinical approaches to the treatment and/or prevention of the numerous congenital craniofacial malformations. To this end, we performed a genome-wide analysis of RNA transcription from non-coding regulatory elements by CAGE-sequencing of the facial mesenchyme of human embryos and cross-checked the active enhancers thus identified against genes, identified by GWAS for the normal range human facial appearance. Among the identified active cis-enhancers, several belonged to the components of the PI3/AKT/mTORC1/autophagy pathway. To assess the functional role of this pathway, we manipulated it both genetically and pharmacologically in mice and zebrafish. These experiments revealed that mTORC1 signaling modulates craniofacial shaping at the stage of skeletal mesenchymal condensations, with subsequent fine-tuning during clonal intercalation. This ability of mTORC1 pathway to modulate facial shaping, along with its evolutionary conservation and ability to sense external stimuli, in particular dietary amino acids, indicate that the mTORC1 pathway may play a role in facial phenotypic plasticity. Indeed, the level of protein in the diet of pregnant female mice influenced the activity of mTORC1 in fetal craniofacial structures and altered the size of skeletogenic clones, thus exerting an impact on the local geometry and craniofacial shaping. Overall, our findings indicate that the mTORC1 signaling pathway is involved in the effect of environmental conditions on the shaping of craniofacial structures.
- MeSH
- dánio pruhované * MeSH
- dieta MeSH
- lidé MeSH
- mechanistické cílové místo rapamycinového komplexu 1 MeSH
- myši MeSH
- proteiny MeSH
- signální transdukce * MeSH
- těhotenství MeSH
- zvířata MeSH
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- lidé MeSH
- myši MeSH
- těhotenství MeSH
- ženské pohlaví MeSH
- zvířata MeSH
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- časopisecké články MeSH
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