Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO)

Chronic recurrent multifocal osteomyelitis (CRMO) is a rare, pediatric, autoinflammatory disease characterized by bone pain due to sterile osteomyelitis, and is often accompanied by psoriasis or inflammatory bowel disease. There are two syndromic forms of CRMO, Majeed syndrome and DIRA, for which th...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	PloS one 2017-03, Vol.12 (3), p.e0169687-e0169687
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	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 Transcription factors Tumor necrosis factor-TNF
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!