Ontology highlight
ABSTRACT:
SUBMITTER: Qu C
PROVIDER: S-EPMC4396608 | biostudies-literature | 2015 Apr
REPOSITORIES: biostudies-literature
Qu Chao C Bonar Sheri L SL Hickman-Brecks Cynthia L CL Abu-Amer Samer S McGeough Matthew D MD Peña Carla A CA Broderick Lori L Yang Chang C Grimston Susan K SK Kading Jacqueline J Abu-Amer Yousef Y Novack Deborah V DV Hoffman Hal M HM Civitelli Roberto R Mbalaviele Gabriel G
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 20141204 4
Activating-mutations in NOD-like receptor (NLR) family, pyrin domain-containing 3 (NLRP3) cause neonatal-onset multisystem inflammatory disease. However, the ontogeny of skeletal anomalies in this disorder is poorly understood. Mice globally expressing the D301N mutation in Nlrp3 (D303N in human) model the human phenotype, including systemic inflammation and skeletal deformities. To gain insights into the skeletal manifestations, we generated mice in which the expression of D301N Nlrp3 (Nlrp3( D ...[more]