Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling

BACKGROUND: Kinesin motor proteins transport intracellular cargo, including mRNA, proteins, and organelles. Pathogenic variants in kinesin-related genes have been implicated in neurodevelopmental disorders and skeletal dysplasias. We identified de novo, heterozygous variants in KIF5B, encoding a kin...

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Detalles Bibliográficos
Autores principales: Marom, Ronit, Zhang, Bo, Washington, Megan E., Song, I-Wen, Burrage, Lindsay C., Rossi, Vittoria C., Berrier, Ava S., Lindsey, Anika, Lesinski, Jacob, Nonet, Michael L., Chen, Jian, Baldridge, Dustin, Silverman, Gary A., Sutton, V. Reid, Rosenfeld, Jill A., Tran, Alyssa A., Hicks, M. John, Murdock, David R., Dai, Hongzheng, Weis, MaryAnn, Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Caswell, Richard, Pottinger, Carrie, Cilliers, Deirdre, Stals, Karen, Eyre, David, Krakow, Deborah, Schedl, Tim, Pak, Stephen C., Lee, Brendan H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10656020/
https://www.ncbi.nlm.nih.gov/pubmed/37934770
http://dx.doi.org/10.1371/journal.pgen.1011005

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