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T1  - An ARHGAP25 variant links aberrant Rac1 function to early-onset skeletal fragility 
SN  -  /  
UR  - http://hdl.handle.net/10138/336620 
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A1  - 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 
A2  -  
PB  -  
Y1  - 2021 
LA  - eng 
AB  - 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 and osteoblast function, their significance in human bone health and disease remains elusive. Here, we report defective RhoGTPase regulation as a cause of severe, early-onset, autosomal-dominant skeletal frag... 
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KW  - OSTEOGENESIS IMPERFECTA; OSTEOPOROSIS; BONE MODELING AND REMODELING; CELL; TISSUE SIGNALING; OTHER; GENETIC RESEARCH; GTPASE-ACTIVATING PROTEINS; GENOME-WIDE ASSOCIATION; BONE-MINERAL DENSITY; RHO-GTPASES; BETA-CATENIN; MUTATIONS; IDENTIFICATION; METAANALYSIS; OSTEOCLASTS; 3121 General medicine, internal medicine and other clinical medicine 
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