High prevalence of rare FBLIM1 gene variants in an Italian cohort of patients with Chronic Non-bacterial Osteomyelitis (CNO).

Adamo Pio d'AdamoAnna Monica BiancoGiovanna FerraraMartina La BiancaAntonella InsalacoAlberto TommasiniManuela PardeoMarco CattaliniFrancesco La TorreMartina FinettiClotilde AlizziGabriele SimoniniVirginia MessiaSerena PastoreRolando CimazMarco GattornoAndrea Taddionull null

Published in: Pediatric rheumatology online journal (2020)

Considering the high frequency of rare variants in our CNO cohort, our data seem to confirm a possible role of FBLIM1 in the pathogenesis of CNO suggesting that CNO is a disorder of chronic inflammation and imbalanced bone remodeling.

Keyphrases

high frequency
copy number
transcranial magnetic stimulation
oxidative stress
electronic health record
big data
dna methylation
gene expression
bone loss
deep learning
artificial intelligence
body composition
genome wide identification
data analysis