Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia

BACKGROUND: Beyond its structural role in the skeleton, the extracellular matrix (ECM), particularly basement membrane proteins, facilitates communication with intracellular signaling pathways and cell to cell interactions to control differentiation, proliferation, migration and survival. Alteration...

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Detalles Bibliográficos
Autores principales: Barad, Maya, Csukasi, Fabiana, Bosakova, Michaela, Martin, Jorge H., Zhang, Wenjuan, Paige Taylor, S., Lachman, Ralph S., Zieba, Jennifer, Bamshad, Michael, Nickerson, Deborah, Chong, Jessica X., Cohn, Daniel H., Krejci, Pavel, Krakow, Deborah, Duran, Ivan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7695969/
https://www.ncbi.nlm.nih.gov/pubmed/33242826
http://dx.doi.org/10.1016/j.ebiom.2020.103075

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