An ARHGAP25 variant links aberrant Rac1 function to early‐onset skeletal fragility

• Published in: JBMR plus Vol. 5; no. 7; pp. e10509 - n/a
• Main Authors: 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., Rivadeneira, Fernando, Bassett, John H. Duncan, Williams, Graham R., Lerner, Ulf H., Pereira, Renata C., Lappalainen, Pekka, Mäkitie, Outi
• Format: Journal Article
• Language: English
• Published: Hoboken, USA John Wiley & Sons, Inc 01.07.2021; Oxford University Press
• Subjects: 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

ABSTRACT Ras homologous guanosine triphosphatases (RhoGTPases) control several cellular functions, including cytoskeletal actin remodeling and cell migration. Their activities are downregulated by GTPase‐activating proteins (GAPs). Although RhoGTPases are implicated in bone remodeling and osteoclast...