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http://purl.uniprot.org/citations/32553114http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/32553114http://www.w3.org/2000/01/rdf-schema#comment"Functional characterisation of cell-type-specific regulatory networks is key to establish a causal link between genetic variation and phenotype. The osteoclast offers a unique model for interrogating the contribution of co-regulated genes to in vivo phenotype as its multinucleation and resorption activities determine quantifiable skeletal traits. Here we took advantage of a trans-regulated gene network (MMnet, macrophage multinucleation network) which we found to be significantly enriched for GWAS variants associated with bone-related phenotypes. We found that the network hub gene Bcat1 and seven other co-regulated MMnet genes out of 13, regulate bone function. Specifically, global (Pik3cb-/-, Atp8b2+/-, Igsf8-/-, Eml1-/-, Appl2-/-, Deptor-/-) and myeloid-specific Slc40a1 knockout mice displayed abnormal bone phenotypes. We report opposing effects of MMnet genes on bone mass in mice and osteoclast multinucleation/resorption in humans with strong correlation between the two. These results identify MMnet as a functionally conserved network that regulates osteoclast multinucleation and bone mass."xsd:string
http://purl.uniprot.org/citations/32553114http://purl.org/dc/terms/identifier"doi:10.7554/elife.55549"xsd:string
http://purl.uniprot.org/citations/32553114http://purl.uniprot.org/core/author"Pereira M."xsd:string
http://purl.uniprot.org/citations/32553114http://purl.uniprot.org/core/author"Park K.S."xsd:string
http://purl.uniprot.org/citations/32553114http://purl.uniprot.org/core/author"Ko J.H."xsd:string
http://purl.uniprot.org/citations/32553114http://purl.uniprot.org/core/author"Croucher P.I."xsd:string
http://purl.uniprot.org/citations/32553114http://purl.uniprot.org/core/author"Williams G.R."xsd:string
http://purl.uniprot.org/citations/32553114http://purl.uniprot.org/core/author"Logan J."xsd:string
http://purl.uniprot.org/citations/32553114http://purl.uniprot.org/core/author"Kim K.B."xsd:string
http://purl.uniprot.org/citations/32553114http://purl.uniprot.org/core/author"Petretto E."xsd:string
http://purl.uniprot.org/citations/32553114http://purl.uniprot.org/core/author"Behmoaras J."xsd:string
http://purl.uniprot.org/citations/32553114http://purl.uniprot.org/core/author"Rotival M."xsd:string
http://purl.uniprot.org/citations/32553114http://purl.uniprot.org/core/author"Bassett J.D."xsd:string
http://purl.uniprot.org/citations/32553114http://purl.uniprot.org/core/author"Tan A.L.M."xsd:string
http://purl.uniprot.org/citations/32553114http://purl.uniprot.org/core/author"Protheroe H."xsd:string
http://purl.uniprot.org/citations/32553114http://purl.uniprot.org/core/date"2020"xsd:gYear
http://purl.uniprot.org/citations/32553114http://purl.uniprot.org/core/name"Elife"xsd:string
http://purl.uniprot.org/citations/32553114http://purl.uniprot.org/core/pages"e55549"xsd:string
http://purl.uniprot.org/citations/32553114http://purl.uniprot.org/core/title"A trans-eQTL network regulates osteoclast multinucleation and bone mass."xsd:string
http://purl.uniprot.org/citations/32553114http://purl.uniprot.org/core/volume"9"xsd:string
http://purl.uniprot.org/citations/32553114http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/32553114
http://purl.uniprot.org/citations/32553114http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/32553114
http://purl.uniprot.org/uniprot/#_A0A0A6YVX9-mappedCitation-32553114http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/32553114
http://purl.uniprot.org/uniprot/#_A0A0A6YWK7-mappedCitation-32553114http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/32553114