Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO) - Cox, Allison J.; Darbro, Benjamin W.; Laxer, Ronald M.; Velez, Gabriel; Bing, Xinyu; Finer, Alexis L.; Erives, Albert; Mahajan, Vinit B.; Bassuk, Alexander G.; Ferguson, Polly J. (PloS one, 2017)
Keywords: Amino Acid Sequence; Analysis; Animal models; Animals; Arthritis; Binding sites; Biocompatibility; Biology and Life Sciences; Bone marrow; Bone remodeling; Care and treatment; Cell Adhesion Molecules - chemistry; Cell Adhesion Molecules - genetics; Cell Line, Tumor; Child; Cytoskeletal Proteins - chemistry; Cytoskeletal Proteins - genetics; Diagnosis; DNA microarrays; Female; Frameshift mutation; Gene mutation; Gene sequencing; Genes; Genes, Recessive; Genetic aspects; Genetics; Genomes; Haplotypes; Humans; Immunology; Inflammation; Inflammatory bowel disease; Inflammatory bowel diseases; Interdisciplinary aspects; Interleukin-10 - genetics; Intestine; Laboratories; Macrophages; Mice; Mutation; Osteomyelitis; Osteomyelitis - genetics; Pain; Parents; Pathogenesis; Pediatrics; Promoter Regions, Genetic; Proteins; Psoriasis; Research and Analysis Methods; Rheumatology; Sequence Homology, Amino Acid; Skin diseases; Transcription factors; Tumor necrosis factor-TNF