{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T15:05:55Z","timestamp":1790003155184,"version":"4.0.1"},"reference-count":38,"publisher":"Oxford University Press (OUP)","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,3,1]]},"DOI":"10.1093\/hmg\/ddt515","type":"journal-article","created":{"date-parts":[[2013,10,25]],"date-time":"2013-10-25T20:46:39Z","timestamp":1382733999000},"page":"1250-1259","source":"Crossref","is-referenced-by-count":49,"title":["NF1 is a critical regulator of muscle development and metabolism"],"prefix":"10.1093","volume":"23","author":[{"given":"Kate","family":"Sullivan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jad","family":"El-Hoss","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kate G.R.","family":"Quinlan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikita","family":"Deo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fleur","family":"Garton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane T.C.","family":"Seto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Gdalevitch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nigel","family":"Turner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gregory J.","family":"Cooney","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mateusz","family":"Kolanczyk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathryn N.","family":"North","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David G.","family":"Little","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aaron","family":"Schindeler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2013,10,24]]},"reference":[{"key":"key\n\t\t\t\t20170503074104_DDT515C1","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1177\/088307380201700802","article-title":"Neurofibromatosis 1, clinical manifestations and diagnostic criteria","volume":"17","author":"Friedman","year":"2002","journal-title":"J. Child. Neurol."},{"key":"key\n\t\t\t\t20170503074104_DDT515C2","doi-asserted-by":"crossref","first-page":"616","DOI":"10.1016\/j.bone.2007.11.006","article-title":"Recent insights into bone development, homeostasis, and repair in type 1 neurofibromatosis (NF1)","volume":"42","author":"Schindeler","year":"2008","journal-title":"Bone"},{"key":"key\n\t\t\t\t20170503074104_DDT515C3","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1001\/jama.1997.03550010065042","article-title":"The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2","volume":"278","author":"Gutmann","year":"1997","journal-title":"JAMA"},{"key":"key\n\t\t\t\t20170503074104_DDT515C4","doi-asserted-by":"crossref","first-page":"928","DOI":"10.1007\/s00198-004-1801-4","article-title":"Decreased bone mineral density and content in neurofibromatosis type 1, lowest local values are located in the load-carrying parts of the body","volume":"16","author":"Kuorilehto","year":"2005","journal-title":"Osteoporos. Int."},{"key":"key\n\t\t\t\t20170503074104_DDT515C5","doi-asserted-by":"crossref","first-page":"1161","DOI":"10.1007\/s00198-005-1940-2","article-title":"Decreased bone mineral density in patients with neurofibromatosis 1","volume":"16","author":"Lammert","year":"2005","journal-title":"Osteoporos. Int."},{"key":"key\n\t\t\t\t20170503074104_DDT515C6","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1136\/jmg.2008.061895","article-title":"Bone health and fracture rate in individuals with neurofibromatosis 1 (NF1)","volume":"46","author":"Tucker","year":"2009","journal-title":"J. Med. Genet."},{"key":"key\n\t\t\t\t20170503074104_DDT515C7","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1086\/504441","article-title":"Double inactivation of NF1 in tibial pseudarthrosis","volume":"79","author":"Stevenson","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170503074104_DDT515C8","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1016\/j.bone.2005.01.022","article-title":"Neurofibromin and its inactivation of Ras are prerequisites for osteoblast functioning","volume":"36","author":"Yu","year":"2005","journal-title":"Bone"},{"key":"key\n\t\t\t\t20170503074104_DDT515C9","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1002\/jnr.490370312","article-title":"Modulation of neurofibromatosis type 1 gene expression during in vitro myoblast differentiation","volume":"37","author":"Gutmann","year":"1994","journal-title":"J. Neurosci. Res."},{"key":"key\n\t\t\t\t20170503074104_DDT515C10","doi-asserted-by":"crossref","first-page":"1725","DOI":"10.1212\/01.WNL.0000098881.95854.5F","article-title":"Neurofibromatosis type 1, motor and cognitive function and T2-weighted MRI hyperintensities","volume":"61","author":"Feldmann","year":"2003","journal-title":"Neurology"},{"key":"key\n\t\t\t\t20170503074104_DDT515C11","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1097\/01.bpb.0000271310.87997.ae","article-title":"Decreased bone mineral density in neurofibromatosis type 1, results from a pediatric cohort","volume":"27","author":"Dulai","year":"2007","journal-title":"J. Pediatr. Orthop."},{"key":"key\n\t\t\t\t20170503074104_DDT515C12","doi-asserted-by":"crossref","first-page":"2697","DOI":"10.1093\/hmg\/ddr149","article-title":"Neurofibromin (Nf1) is required for skeletal muscle development","volume":"20","author":"Kossler","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170503074104_DDT515C13","first-page":"145","article-title":"Case-control study of the muscular compartments and osseous strength in neurofibromatosis type 1 using peripheral quantitative computed tomography","volume":"5","author":"Stevenson","year":"2005","journal-title":"J. Musculoskelet. Neuronal. Interact."},{"key":"key\n\t\t\t\t20170503074104_DDT515C14","first-page":"15","article-title":"Muscular force is reduced in neurofibromatosis type 1","volume":"9","author":"Souza","year":"2009","journal-title":"J. Musculoskelet. Neuronal. Interact."},{"key":"key\n\t\t\t\t20170503074104_DDT515C15","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1097\/PEP.0b013e3181f9dbc8","article-title":"Motor proficiency in children with neurofibromatosis type 1","volume":"22","author":"Johnson","year":"2010","journal-title":"Pediatr. Phys. Ther."},{"key":"key\n\t\t\t\t20170503074104_DDT515C16","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1038\/ng2004","article-title":"Life extension through neurofibromin mitochondrial regulation and antioxidant therapy for neurofibromatosis-1 in Drosophila melanogaster","volume":"39","author":"Tong","year":"2007","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170503074104_DDT515C17","doi-asserted-by":"crossref","first-page":"1019","DOI":"10.1101\/gad.8.9.1019","article-title":"Targeted disruption of the neurofibromatosis type-1 gene leads to developmental abnormalities in heart and various neural crest-derived tissues","volume":"8","author":"Brannan","year":"1994","journal-title":"Genes Dev."},{"key":"key\n\t\t\t\t20170503074104_DDT515C18","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1002\/gene.20104","article-title":"MyoD-cre transgenic mice, a model for conditional mutagenesis and lineage tracing of skeletal muscle","volume":"41","author":"Chen","year":"2005","journal-title":"Genesis."},{"key":"key\n\t\t\t\t20170503074104_DDT515C19","doi-asserted-by":"crossref","first-page":"5100","DOI":"10.1128\/MCB.22.14.5100-5113.2002","article-title":"Astrocyte-specific inactivation of the neurofibromatosis 1 gene (NF1) is insufficient for astrocytoma formation","volume":"22","author":"Bajenaru","year":"2002","journal-title":"Mol. Cell. Biol."},{"key":"key\n\t\t\t\t20170503074104_DDT515C20","doi-asserted-by":"crossref","first-page":"1053","DOI":"10.1002\/jor.20628","article-title":"Models of tibial fracture healing in normal and Nf1-deficient mice","volume":"26","author":"Schindeler","year":"2008","journal-title":"J. Orthop. Res."},{"key":"key\n\t\t\t\t20170503074104_DDT515C21","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1002\/jbmr.528","article-title":"A murine model of neurofibromatosis type 1 tibial pseudarthrosis featuring proliferative fibrous tissue and osteoclast-like cells","volume":"27","author":"El-Hoss","year":"2012","journal-title":"J. Bone. Miner. Res."},{"key":"key\n\t\t\t\t20170503074104_DDT515C22","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1002\/ajmg.c.30296","article-title":"The musculoskeletal phenotype of the RASopathies","volume":"157","author":"Stevenson","year":"2011","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"key\n\t\t\t\t20170503074104_DDT515C23","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1002\/ajmg.c.30298","article-title":"Skeletal muscle pathology in Costello and cardio-facio-cutaneous syndromes, developmental consequences of germline Ras\/MAPK activation on myogenesis","volume":"157","author":"Tidyman","year":"2011","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"key\n\t\t\t\t20170503074104_DDT515C24","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1016\/j.humov.2011.05.004","article-title":"Lower extremity strength and hopping and jumping ground reaction forces in children with neurofibromatosis type 1","volume":"31","author":"Johnson","year":"2012","journal-title":"Hum. Mov. Sci."},{"key":"key\n\t\t\t\t20170503074104_DDT515C25","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1002\/mus.23324","article-title":"Peripheral muscle weakness in RASopathies","volume":"46","author":"Stevenson","year":"2012","journal-title":"Muscle Nerve"},{"key":"key\n\t\t\t\t20170503074104_DDT515C26","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1016\/j.bone.2012.07.011","article-title":"Deterioration of fracture healing in the mouse model of NF1 long bone dysplasia","volume":"51","author":"El Khassawna","year":"2012","journal-title":"Bone"},{"key":"key\n\t\t\t\t20170503074104_DDT515C27","doi-asserted-by":"crossref","DOI":"10.1002\/jbmr.1992","article-title":"Hyperactive transforming growth factor-\u03b21 signaling potentiates skeletal defects in a neurofibromatosis type 1 mouse model","author":"Rhodes","year":"2013","journal-title":"J. Bone. Miner. Res."},{"key":"key\n\t\t\t\t20170503074104_DDT515C28","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1002\/gene.10092","article-title":"Expression of Cre Recombinase in the developing mouse limb bud driven by a Prxl enhancer","volume":"33","author":"Logan","year":"2002","journal-title":"Genesis"},{"key":"key\n\t\t\t\t20170503074104_DDT515C29","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1016\/j.bbadis.2009.10.005","article-title":"A suggested role for mitochondria in Noonan syndrome","volume":"1802","author":"Lee","year":"2010","journal-title":"Biochim. Biophys. Acta"},{"key":"key\n\t\t\t\t20170503074104_DDT515C30","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1038\/ejhg.2010.171","article-title":"Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway","volume":"19","author":"Kleefstra","year":"2011","journal-title":"Eur. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170503074104_DDT515C31","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1007\/s10545-007-0612-0","article-title":"Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency","volume":"30","author":"Aeby","year":"2007","journal-title":"J. Inherit. Metab. Dis."},{"key":"key\n\t\t\t\t20170503074104_DDT515C32","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1186\/1476-4598-8-54","article-title":"Increased OXPHOS activity precedes rise in glycolytic rate in H-RasV12\/E1A transformed fibroblasts that develop a Warburg phenotype","volume":"8","author":"de Groof","year":"2009","journal-title":"Mol. Cancer"},{"key":"key\n\t\t\t\t20170503074104_DDT515C33","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1016\/j.nmd.2010.06.018","article-title":"Disorders of muscle lipid metabolism, diagnostic and therapeutic challenges","volume":"20","author":"Lafor\u00eat","year":"2010","journal-title":"Neuromuscul. Disord."},{"key":"key\n\t\t\t\t20170503074104_DDT515C34","doi-asserted-by":"crossref","first-page":"2264","DOI":"10.1128\/MCB.01450-08","article-title":"The RasGAP proteins Ira2 and neurofibromin are negatively regulated by Gpb1 in yeast and ETEA in humans","volume":"30","author":"Phan","year":"2010","journal-title":"Mol. Cell. Biol."},{"key":"key\n\t\t\t\t20170503074104_DDT515C35","doi-asserted-by":"crossref","first-page":"920","DOI":"10.1126\/science.1068452","article-title":"Neurofibromas in NF1, Schwann cell origin and role of tumor environment","volume":"296","author":"Zhu","year":"2002","journal-title":"Science"},{"key":"key\n\t\t\t\t20170503074104_DDT515C36","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/j.bone.2005.08.009","article-title":"Botox induced muscle paralysis rapidly degrades bone","volume":"38","author":"Warner","year":"2006","journal-title":"Bone"},{"key":"key\n\t\t\t\t20170503074104_DDT515C37","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1016\/j.nmd.2010.06.012","article-title":"Validation of an automated computational method for skeletal muscle fibre morphometry","volume":"20","author":"Garton","year":"2010","journal-title":"Neuromusc. Disord."},{"key":"key\n\t\t\t\t20170503074104_DDT515C38","doi-asserted-by":"crossref","first-page":"1076","DOI":"10.1093\/hmg\/ddm380","article-title":"An Actn3 knockout mouse provides mechanistic insights into the association between \u03b1 actinin-3 deficiency and human athletic performance","volume":"17","author":"MacArthur","year":"2008","journal-title":"Hum. Mol. Genet."}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/23\/5\/1250\/14142288\/ddt515.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,8,22]],"date-time":"2017-08-22T23:00:56Z","timestamp":1503442856000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article-lookup\/doi\/10.1093\/hmg\/ddt515"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,10,24]]},"references-count":38,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2013,10,24]]},"published-print":{"date-parts":[[2014,3,1]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddt515","relation":{},"ISSN":["1460-2083","0964-6906"],"issn-type":[{"value":"1460-2083","type":"electronic"},{"value":"0964-6906","type":"print"}],"subject":[],"published":{"date-parts":[[2013,10,24]]}}}