Novel Majeed Syndrome–Causing LPIN2 Mutations Link Bone Inflammation to Inflammatory M2 Macrophages and Accelerated Osteoclastogenesis

OBJECTIVE: To identify novel heterozygous LPIN2 mutations in a patient with Majeed syndrome and characterize the pathomechanisms that lead to the development of sterile osteomyelitis. METHODS: Targeted genetic analysis and functional studies assessing monocyte responses, macrophage differentiation,...

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Detalles Bibliográficos
Autores principales: Bhuyan, Farzana, de Jesus, Adriana A., Mitchell, Jacob, Leikina, Evgenia, VanTries, Rachel, Herzog, Ronit, Onel, Karen B., Oler, Andrew, Montealegre Sanchez, Gina A., Johnson, Kim A., Bichell, Lena, Marrero, Bernadette, De Castro, Luis Fernandez, Huang, Yan, Calvo, Katherine R., Collins, Michael T., Ganesan, Sundar, Chernomordik, Leonid V., Ferguson, Polly J., Goldbach‐Mansky, Raphaela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Autoinflammatory Disease
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8252456/
https://www.ncbi.nlm.nih.gov/pubmed/33314777
http://dx.doi.org/10.1002/art.41624

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