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Combinations of deletion and missense variations of the dynein-2 DYNC2LI1 subunit found in skeletal ciliopathies cause ciliary defects

Cilia play crucial roles in sensing and transducing extracellular signals. Bidirectional protein trafficking within cilia is mediated by the intraflagellar transport (IFT) machinery containing IFT-A and IFT-B complexes, with the aid of kinesin-2 and dynein-2 motors. The dynein-2 complex drives retro...

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Detalles Bibliográficos
Autores principales: Qiu, Hantian, Tsurumi, Yuta, Katoh, Yohei, Nakayama, Kazuhisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8742128/
https://www.ncbi.nlm.nih.gov/pubmed/34997029
http://dx.doi.org/10.1038/s41598-021-03950-0