{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T10:07:58Z","timestamp":1780567678025,"version":"3.54.1"},"reference-count":56,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2018,9,1]],"date-time":"2018-09-01T00:00:00Z","timestamp":1535760000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,9,1]],"date-time":"2018-09-01T00:00:00Z","timestamp":1535760000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100002426","name":"Fondazione Telethon","doi-asserted-by":"publisher","award":["GGP13060"],"award-info":[{"award-number":["GGP13060"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007385","name":"Fondazione Cassa di Risparmio in Bologna","doi-asserted-by":"publisher","award":["CRT-2014"],"award-info":[{"award-number":["CRT-2014"]}],"id":[{"id":"10.13039\/100007385","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["GR-2011-02348266"],"award-info":[{"award-number":["GR-2011-02348266"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004462","name":"Consiglio Nazionale delle Ricerche","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004462","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004963","name":"Seventh Framework Programme","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004963","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Bone"],"published-print":{"date-parts":[[2018,9]]},"DOI":"10.1016\/j.bone.2018.06.013","type":"journal-article","created":{"date-parts":[[2018,6,19]],"date-time":"2018-06-19T08:53:19Z","timestamp":1529398399000},"page":"125-136","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":22,"special_numbering":"C","title":["Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1"],"prefix":"10.1016","volume":"114","author":[{"given":"Eleonora","family":"Palagano","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Zuccarini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Prontera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renato","family":"Borgatti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriela","family":"Stangoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandro","family":"Elisei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Mantero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ciro","family":"Menale","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonella","family":"Forlino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Uva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuela","family":"Oppo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Vezzoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Villa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgio R.","family":"Merlo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Sobacchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.bone.2018.06.013_bb0005","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1146\/annurev.cellbio.042308.113308","article-title":"Genetic control of bone formation","volume":"25","author":"Karsenty","year":"2009","journal-title":"Annu. Rev. Cell Dev. Biol."},{"key":"10.1016\/j.bone.2018.06.013_bb0010","doi-asserted-by":"crossref","first-page":"2869","DOI":"10.1002\/ajmg.a.37365","article-title":"Nosology and classification of genetic skeletal disorders: 2015 revision","volume":"167","author":"Bonafe","year":"2015","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.bone.2018.06.013_bb0015","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1002\/ajmg.1320200409","article-title":"A previously undescribed autosomal recessive multiple congenital anomalies\/mental retardation (MCA\/MR) syndrome with fronto-nasal dysostosis, cleft lip\/palate, limb hypoplasia, and postaxial poly-syndactyly: acro-fronto-facio-nasal dysostosis syndrome","volume":"20","author":"Richieri-Costa","year":"1985","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.bone.2018.06.013_bb0020","doi-asserted-by":"crossref","first-page":"800","DOI":"10.1002\/ajmg.1320440616","article-title":"Acro-fronto-facio-nasal dysostosis: report of a new Brazilian family","volume":"44","author":"Richieri-Costa","year":"1992","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.bone.2018.06.013_bb0025","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1002\/ajmg.a.10444","article-title":"Acrofrontofacionasal dysostosis: report of the third Brazilian family","volume":"119","author":"Guion-Almeida","year":"2003","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.bone.2018.06.013_bb0030","doi-asserted-by":"crossref","first-page":"3125","DOI":"10.1002\/ajmg.a.34295","article-title":"Acrofrontofacionasal Dysostosis 1 in two sisters of Indian origin","volume":"155","author":"Prontera","year":"2011","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.bone.2018.06.013_bb0035","doi-asserted-by":"crossref","first-page":"3686","DOI":"10.1093\/nar\/gkq1319","article-title":"Dhx34 and Nbas function in the NMD pathway and are required for embryonic development in zebrafish","volume":"39","author":"Anastasaki","year":"2011","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.bone.2018.06.013_bb0040","doi-asserted-by":"crossref","first-page":"8319","DOI":"10.1093\/nar\/gkt585","article-title":"DHX34 and NBAS form part of an autoregulatory NMD circuit that regulates endogenous RNA targets in human cells, zebrafish and Caenorhabditis elegans","volume":"41","author":"Longman","year":"2013","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.bone.2018.06.013_bb0045","doi-asserted-by":"crossref","first-page":"2639","DOI":"10.1091\/mbc.e08-11-1104","article-title":"Identification of the neuroblastoma-amplified gene product as a component of the Syntaxin 18 complex implicated in Golgi-to-endoplasmic reticulum retrograde transport","volume":"20","author":"Aoki","year":"2009","journal-title":"Mol. Biol. Cell"},{"key":"10.1016\/j.bone.2018.06.013_bb0050","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1136\/jmg.2009.074815","article-title":"Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huet anomaly","volume":"47","author":"Maksimova","year":"2010","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.bone.2018.06.013_bb0055","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1016\/j.ejmg.2015.11.005","article-title":"Neuroblastoma amplified sequence (NBAS) mutation in recurrent acute liver failure: confirmatory report in a sibship with very early onset, osteoporosis and developmental delay","volume":"58","author":"Capo-Chichi","year":"2015","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.bone.2018.06.013_bb0060","doi-asserted-by":"crossref","first-page":"2902","DOI":"10.1002\/ajmg.a.37338","article-title":"NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina","volume":"167A","author":"Garcia Segarra","year":"2015","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.bone.2018.06.013_bb0065","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1016\/j.ajhg.2015.05.009","article-title":"Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy","volume":"97","author":"Haack","year":"2015","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bone.2018.06.013_bb0070","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1007\/s10545-015-9896-7","article-title":"Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts","volume":"39","author":"Staufner","year":"2016","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.bone.2018.06.013_bb0075","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1016\/j.bone.2016.10.023","article-title":"Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta","volume":"94","author":"Balasubramanian","year":"2017","journal-title":"Bone"},{"key":"10.1016\/j.bone.2018.06.013_bb0080","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1186\/s13052-017-0406-4","article-title":"NBAS mutations cause acute liver failure: when acetaminophen is not a culprit","volume":"43","author":"Calvo","year":"2017","journal-title":"Ital. J. Pediatr."},{"key":"10.1016\/j.bone.2018.06.013_bb0085","doi-asserted-by":"crossref","first-page":"206","DOI":"10.4103\/1319-3767.207714","article-title":"Neuroblastoma amplified sequence gene mutation: a rare cause of recurrent liver failure in children","volume":"23","author":"Hasosah","year":"2017","journal-title":"Saudi J. Gastroenterol."},{"key":"10.1016\/j.bone.2018.06.013_bb0090","doi-asserted-by":"crossref","DOI":"10.1542\/peds.2016-0550","article-title":"Acute liver failure meets SOPH syndrome: a case report on an intermediate phenotype","volume":"139","author":"Kort\u00fcm","year":"2017","journal-title":"Pediatrics"},{"key":"10.1016\/j.bone.2018.06.013_bb0095","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1186\/s12876-017-0636-3","article-title":"Novel NBAS mutations and fever-related recurrent acute liver failure in Chinese children: a retrospective study","volume":"17","author":"Li","year":"2017","journal-title":"BMC Gastroenterol."},{"key":"10.1016\/j.bone.2018.06.013_bb0100","article-title":"Foveal hypoplasia in short stature with optic atrophy and Pelger-Hu\u00ebt anomaly syndrome with neuroblastoma-amplified sequence (NBAS) gene mutation","author":"Park","year":"2017","journal-title":"J. AAPOS"},{"key":"10.1016\/j.bone.2018.06.013_bb0105","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1016\/j.ejmg.2017.05.005","article-title":"Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS","volume":"60","author":"Regateiro","year":"2017","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.bone.2018.06.013_bb0110","first-page":"2245","article-title":"Targeted next-generation sequencing reveals two novel mutations in NBAS in a patient with infantile liver failure syndrome-2","volume":"17","author":"Wang","year":"2018","journal-title":"Mol. Med. Rep."},{"key":"10.1016\/j.bone.2018.06.013_bb0115","doi-asserted-by":"crossref","first-page":"1814","DOI":"10.1002\/jbmr.2517","article-title":"Buried in the middle but guilty: Intronic mutations in the TCIRG1 gene cause human autosomal recessive osteopetrosis","volume":"30","author":"Palagano","year":"2015","journal-title":"J. Bone Miner. Res."},{"key":"10.1016\/j.bone.2018.06.013_bb0120","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1101\/gr.107524.110","article-title":"The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data","volume":"20","author":"Mckenna","year":"2010","journal-title":"Genome Res."},{"key":"10.1016\/j.bone.2018.06.013_bb0125","first-page":"11.10.1","article-title":"From FastQ data to high-confidence variant calls: the genome analysis toolkit best practices pipeline","volume":"43","author":"Van der Auwera","year":"2013","journal-title":"Curr. Protoc. Bioinformatics"},{"key":"10.1016\/j.bone.2018.06.013_bb0130","doi-asserted-by":"crossref","first-page":"1928","DOI":"10.1093\/bioinformatics\/btu135","article-title":"Orione, a web-based framework for NGS analysis in microbiology","volume":"30","author":"Cuccuru","year":"2014","journal-title":"Bioinformatics"},{"key":"10.1016\/j.bone.2018.06.013_bb0135","doi-asserted-by":"crossref","DOI":"10.1093\/nar\/gkr1257","article-title":"A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases","volume":"40","author":"Li","year":"2012","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.bone.2018.06.013_bb0140","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1002\/aja.1002030302","article-title":"Stages of embryonic development of the zebrafish","volume":"203","author":"Kimmel","year":"1995","journal-title":"Dev. Dyn."},{"key":"10.1016\/j.bone.2018.06.013_bb0145","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1080\/10520290701333558","article-title":"A two-color acid-free cartilage and bone stain for zebrafish larvae","volume":"82","author":"Walker","year":"2007","journal-title":"Biotech. Histochem."},{"key":"10.1016\/j.bone.2018.06.013_bb0150","doi-asserted-by":"crossref","first-page":"2897","DOI":"10.1093\/hmg\/ddx171","article-title":"The chaperone activity of 4PBA ameliorates the skeletal phenotype of Chihuahua, a zebrafish model for dominant osteogenesis imperfecta","volume":"26","author":"Gioia","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bone.2018.06.013_bb0155","series-title":"The Griffiths Mental Development Scale. Revisione di Huntley M","author":"Griffiths","year":"1996"},{"key":"10.1016\/j.bone.2018.06.013_bb0160","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1186\/1471-2164-13-194","article-title":"Exome sequencing generates high quality data in non-target regions","volume":"13","author":"Guo","year":"2012","journal-title":"BMC Genomics"},{"key":"10.1016\/j.bone.2018.06.013_bb0165","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1007\/s11914-016-0296-1","article-title":"SOXC genes and the control of skeletogenesis","volume":"14","author":"Lefebvre","year":"2016","journal-title":"Curr. Osteoporos. Rep."},{"key":"10.1016\/j.bone.2018.06.013_bb0170","first-page":"1","article-title":"Ward AC. SOCS proteins in development and disease","volume":"2","author":"Trengove","year":"2013","journal-title":"Am. J. Clin. Exp. Immunol."},{"key":"10.1016\/j.bone.2018.06.013_bb0175","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1159\/000066618","article-title":"Identification and characterisation of the gene TWIST NEIGHBOR (TWISTNB) located in the microdeletion syndrome 7p21 region","volume":"97","author":"Kosan","year":"2002","journal-title":"Cytogenet. Genome Res."},{"key":"10.1016\/j.bone.2018.06.013_bb0180","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1186\/1471-213X-3-6","article-title":"Reduced-folate carrier (RFC) is expressed in placenta and yolk sac, as well as in cells of the developing forebrain, hindbrain, neural tube, craniofacial region, eye, limb buds and heart","volume":"3","author":"Maddox","year":"2003","journal-title":"BMC Dev. Biol."},{"key":"10.1016\/j.bone.2018.06.013_bb0185","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1038\/sj.onc.1202287","article-title":"Co-amplification of a novel gene, NAG, with the N-myc gene in neuroblastoma","volume":"18","author":"Wimmer","year":"1999","journal-title":"Oncogene"},{"key":"10.1016\/j.bone.2018.06.013_bb0190","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0378-1119(03)00459-1","article-title":"The neuroblastoma amplified gene, NAG: genomic structure and characterisation of the 7.3\u202fkb transcript predominantly expressed in neuroblastoma","volume":"307","author":"Scott","year":"2003","journal-title":"Gene"},{"key":"10.1016\/j.bone.2018.06.013_bb0195","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1016\/j.semcdb.2017.08.053","article-title":"Beyond quality control: the role of nonsense-mediated mRNA decay (NMD) in regulating gene expression","volume":"75","author":"Nasif","year":"2018","journal-title":"Semin. Cell Dev. Biol."},{"key":"10.1016\/j.bone.2018.06.013_bb0200","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1242\/dmm.012898","article-title":"Bloomsbury report on mouse embryo phenotyping: recommendations from the IMPC workshop on embryonic lethal screening","volume":"6","author":"Adams","year":"2013","journal-title":"Dis. Model. Mech."},{"key":"10.1016\/j.bone.2018.06.013_bb0205","doi-asserted-by":"crossref","first-page":"846","DOI":"10.1007\/s11626-016-0043-z","article-title":"Isolation and biological characterization of tendon-derived stem cells from fetal bovine","volume":"52","author":"Yang","year":"2016","journal-title":"In Vitro Cell. Dev. Biol. Anim."},{"key":"10.1016\/j.bone.2018.06.013_bb0210","doi-asserted-by":"crossref","first-page":"3571","DOI":"10.1016\/j.biomaterials.2014.01.009","article-title":"In vitro chondrogenesis and in vivo repair of osteochondral defect with human induced pluripotent stem cells","volume":"35","author":"Ko","year":"2014","journal-title":"Biomaterials"},{"key":"10.1016\/j.bone.2018.06.013_bb0215","doi-asserted-by":"crossref","first-page":"2813","DOI":"10.1101\/gad.1017802","article-title":"The transcription factor Sox9 has essential roles in successive steps of the chondrocyte differentiation pathway and is required for expression of Sox5 and Sox6","volume":"16","author":"Akiyama","year":"2002","journal-title":"Genes Dev."},{"key":"10.1016\/j.bone.2018.06.013_bb0220","doi-asserted-by":"crossref","first-page":"1557","DOI":"10.1089\/scd.2009.0445","article-title":"Prospective identification and skeletal localization of cells capable of multilineage differentiation in vivo","volume":"19","author":"Taichman","year":"2010","journal-title":"Stem Cells Dev."},{"key":"10.1016\/j.bone.2018.06.013_bb0225","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1016\/j.ydbio.2006.06.036","article-title":"Scleraxis positively regulates the expression of tenomodulin, a differentiation marker of tenocytes","volume":"298","author":"Shukunami","year":"2006","journal-title":"Dev. Biol."},{"key":"10.1016\/j.bone.2018.06.013_bb0230","doi-asserted-by":"crossref","first-page":"1735","DOI":"10.1242\/dev.001115","article-title":"Controlling morpholino experiments: don't stop making antisense","volume":"135","author":"Eisen","year":"2008","journal-title":"Development"},{"key":"10.1016\/j.bone.2018.06.013_bb0235","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1016\/j.gde.2011.03.008","article-title":"Nonsense-mediated mRNA decay (NMD) in animal embryogenesis: to die or not to die, that is the question","volume":"21","author":"Hwang","year":"2011","journal-title":"Curr. Opin. Genet. Dev."},{"key":"10.1016\/j.bone.2018.06.013_bb0240","doi-asserted-by":"crossref","first-page":"1127","DOI":"10.1038\/ng2100","article-title":"Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation","volume":"39","author":"Tarpey","year":"2007","journal-title":"Nat. Genet."},{"key":"10.1016\/j.bone.2018.06.013_bb0245","doi-asserted-by":"crossref","first-page":"844","DOI":"10.1016\/j.stemcr.2016.05.008","article-title":"Nonsense-mediated RNA decay influences human embryonic stem cell fate","volume":"6","author":"Lou","year":"2016","journal-title":"Stem Cell Rep."},{"key":"10.1016\/j.bone.2018.06.013_bb0250","doi-asserted-by":"crossref","first-page":"14","DOI":"10.3174\/ajnr.A2072","article-title":"Syndromes of the first and second branchial arches, part 1: embryology and characteristic defects","volume":"32","author":"Johnson","year":"2011","journal-title":"AJNR Am. J. Neuroradiol."},{"key":"10.1016\/j.bone.2018.06.013_bb0255","first-page":"99","article-title":"Teratogenic causes of malformations","volume":"40","author":"Gilbert-Barness","year":"2010","journal-title":"Ann. Clin. Lab. Sci."},{"key":"10.1016\/j.bone.2018.06.013_bb0260","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1016\/bs.ctdb.2015.07.001","article-title":"Zebrafish craniofacial development: a window into early patterning","volume":"115","author":"Mork","year":"2015","journal-title":"Curr Top Dev Biol."},{"key":"10.1016\/j.bone.2018.06.013_bb0265","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1002\/dvg.22051","article-title":"Craniofacial abnormalities result from knock down of nonsyndromic clefting gene, crispld2, in zebrafish","volume":"50","author":"Yuan","year":"2012","journal-title":"Genesis"},{"key":"10.1016\/j.bone.2018.06.013_bb0270","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0011650","article-title":"UPF2 is a critical regulator of liver development, function and regeneration","volume":"5","author":"Thoren","year":"2010","journal-title":"PLoS One"},{"key":"10.1016\/j.bone.2018.06.013_bb0275","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.32723","article-title":"TANGO1 builds a machine for collagen export by recruiting and spatially organizing COPII, tethers and membranes","volume":"7","author":"Raote","year":"2018","journal-title":"elife"},{"key":"10.1016\/j.bone.2018.06.013_bb0280","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1016\/j.ajhg.2017.06.004","article-title":"From peas to disease: modifier genes, network resilience, and the genetics of health","volume":"101","author":"Riordan","year":"2017","journal-title":"Am. J. Hum. Genet."}],"container-title":["Bone"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S8756328218302448?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S8756328218302448?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,9]],"date-time":"2025-11-09T03:39:23Z","timestamp":1762659563000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S8756328218302448"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,9]]},"references-count":56,"alternative-id":["S8756328218302448"],"URL":"https:\/\/doi.org\/10.1016\/j.bone.2018.06.013","relation":{},"ISSN":["8756-3282"],"issn-type":[{"value":"8756-3282","type":"print"}],"subject":[],"published":{"date-parts":[[2018,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1","name":"articletitle","label":"Article Title"},{"value":"Bone","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.bone.2018.06.013","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}