WHIM Syndrome-linked CXCR4 mutations drive osteoporosis

WHIM Syndrome is a rare immunodeficiency caused by gain-of-function CXCR4 mutations. Here we report a decrease in bone mineral density in 25% of WHIM patients and bone defects leading to osteoporosis in a WHIM mouse model. Imbalanced bone tissue is observed in mutant mice combining reduced osteoprog...

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Detalles Bibliográficos
Autores principales: Anginot, Adrienne, Nguyen, Julie, Abou Nader, Zeina, Rondeau, Vincent, Bonaud, Amélie, Kalogeraki, Maria, Boutin, Antoine, Lemos, Julia P., Bisio, Valeria, Koenen, Joyce, Hanna Doumit Sakr, Lea, Picart, Amandine, Coudert, Amélie, Provot, Sylvain, Dulphy, Nicolas, Aurrand-Lions, Michel, Mancini, Stéphane J. C., Lazennec, Gwendal, McDermott, David H., Guidez, Fabien, Blin-Wakkach, Claudine, Murphy, Philip M., Cohen-Solal, Martine, Espéli, Marion, Rouleau, Matthieu, Balabanian, Karl
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10097661/
https://www.ncbi.nlm.nih.gov/pubmed/37045841
http://dx.doi.org/10.1038/s41467-023-37791-4

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