An ARHGAP25 variant links aberrant Rac1 function to early‐onset skeletal fragility - Mäkitie, Riikka E.; Henning, Petra; Jiu, Yaming; Kämpe, Anders; Kogan, Konstantin; Costantini, Alice; Välimäki, Ville‐Valtteri; Medina‐Gomez, Carolina; Pekkinen, Minna; Salusky, Isidro B.; Schalin‐Jäntti, Camilla; Haanpää, Maria K.; et al. (JBMR plus, 2021)
Keywords: 5' Untranslated regions; Actin; beta-catenin; Biochemistry; Biopsy; Bone cancer; Bone histomorphometry; Bone mineral density; BONE MODELING AND REMODELING; Bone remodeling; Bone strength; Bone turnover; bone-mineral; cell; Cell spreading; CELL/TISSUE SIGNALING ‐ OTHER; Clinical Medicine; Collagen; Creatinine; Cytoskeleton; density; Endocrinology & Metabolism; Enzymes; Fractures; Genes; GENETIC RESEARCH; genome-wide association; Genomes; gtpase-activating proteins; Hospitals; identification; Immunoassay; Klinisk medicin; Labeling; Laboratories; Leukocyte migration; Leukocytes (mononuclear); Macrophages; Membrane ruffling; metaanalysis; Monocytes; mRNA; Mutants; Mutation; mutations; Original; Osteoblastogenesis; Osteoblasts; Osteoclastogenesis; Osteoclasts; OSTEOGENESIS IMPERFECTA; OSTEOPOROSIS; Osteosarcoma; Osteosarcoma cells; other; rho-gtpases; Sarcoma; tissue signaling; Urine; Vertebrae; United Kingdom--UK; United States--US; Finland; CELL/TISSUE SIGNALING ‐ OTHER; BONE MODELING AND REMODELING; OSTEOGENESIS IMPERFECTA; GENETIC RESEARCH; OSTEOPOROSIS