IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.
Motile and non-motile cilia play critical roles in mammalian development and health. These organelles are composed of a 1000 or more unique proteins, but their assembly depends entirely on proteins synthesized in the cell body and transported into the cilium by intraflagellar transport (IFT). In mam...
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| Principais autores: | , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Public Library of Science (PLoS)
2023-06-01
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| Colecção: | PLoS Genetics |
| Acesso em linha: | https://doi.org/10.1371/journal.pgen.1010796 |
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