{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T13:08:17Z","timestamp":1787317697459,"version":"build-2736575974"},"reference-count":25,"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\/501100008118","name":"Shandong Academy of Sciences","doi-asserted-by":"publisher","award":["2015GHT03B09"],"award-info":[{"award-number":["2015GHT03B09"]}],"id":[{"id":"10.13039\/501100008118","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100014103","name":"Key Technology Research and Development Program of Shandong","doi-asserted-by":"publisher","award":["2016ZDJS07A10"],"award-info":[{"award-number":["2016ZDJS07A10"]}],"id":[{"id":"10.13039\/100014103","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100014103","name":"Key Technology Research and Development Program of Shandong","doi-asserted-by":"publisher","award":["2016GSF201222"],"award-info":[{"award-number":["2016GSF201222"]}],"id":[{"id":"10.13039\/100014103","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007129","name":"Natural Science Foundation of Shandong Province","doi-asserted-by":"publisher","award":["2015ZRC03171"],"award-info":[{"award-number":["2015ZRC03171"]}],"id":[{"id":"10.13039\/501100007129","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.2018.06.018","type":"journal-article","created":{"date-parts":[[2018,6,21]],"date-time":"2018-06-21T00:37:00Z","timestamp":1529541420000},"page":"144-149","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":30,"special_numbering":"C","title":["Novel WNT1 mutations in children with osteogenesis imperfecta: Clinical and functional characterization"],"prefix":"10.1016","volume":"114","author":[{"given":"Yanqin","family":"Lu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiuzhi","family":"Ren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanzhou","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ghalib","family":"Bardai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Sturm","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yunzhang","family":"Dai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olaf","family":"Riess","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yao","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hu","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tianyou","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naixiang","family":"Zhai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6261-0360","authenticated-orcid":false,"given":"Frank","family":"Rauch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinxiang","family":"Han","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.bone.2018.06.018_bb0005","doi-asserted-by":"crossref","first-page":"1657","DOI":"10.1016\/S0140-6736(15)00728-X","article-title":"Osteogenesis imperfecta","volume":"387","author":"Forlino","year":"2016","journal-title":"Lancet"},{"key":"10.1016\/j.bone.2018.06.018_bb0010","doi-asserted-by":"crossref","first-page":"3427","DOI":"10.1007\/s00198-016-3723-3","article-title":"Osteogenesis imperfecta in children and adolescents-new developments in diagnosis and treatment","volume":"27","author":"Trejo","year":"2016","journal-title":"Osteoporos. Int."},{"key":"10.1016\/j.bone.2018.06.018_bb0015","doi-asserted-by":"crossref","first-page":"3607","DOI":"10.1007\/s00198-016-3709-1","article-title":"DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum","volume":"27","author":"Bardai","year":"2016","journal-title":"Osteoporos. Int."},{"key":"10.1016\/j.bone.2018.06.018_bb0020","doi-asserted-by":"crossref","first-page":"1809","DOI":"10.1056\/NEJMoa1215458","article-title":"WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta","volume":"368","author":"Laine","year":"2013","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.bone.2018.06.018_bb0025","doi-asserted-by":"crossref","first-page":"2678","DOI":"10.1172\/JCI92617","article-title":"Osteocyte-specific WNT1 regulates osteoblast function during bone homeostasis","volume":"127","author":"Joeng","year":"2017","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.bone.2018.06.018_bb0030","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1038\/nrendo.2016.71","article-title":"Osteocytic signalling pathways as therapeutic targets for bone fragility","volume":"12","author":"Plotkin","year":"2016","journal-title":"Nat. Rev. Endocrinol."},{"key":"10.1016\/j.bone.2018.06.018_bb0035","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/j.bone.2017.04.001","article-title":"Impaired WNT signaling and the spine-heterozygous WNT1 mutation causes severe age-related spinal pathology","volume":"101","author":"Makitie","year":"2017","journal-title":"Bone"},{"key":"10.1016\/j.bone.2018.06.018_bb0040","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1136\/jmedgenet-2013-101567","article-title":"Mutations in WNT1 are a cause of osteogenesis imperfecta","volume":"50","author":"Fahiminiya","year":"2013","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.bone.2018.06.018_bb0045","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1016\/j.ajhg.2013.02.010","article-title":"Mutations in WNT1 cause different forms of bone fragility","volume":"92","author":"Keupp","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bone.2018.06.018_bb0050","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1016\/j.ajhg.2013.02.009","article-title":"WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta","volume":"92","author":"Pyott","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bone.2018.06.018_bb0055","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1136\/jmedgenet-2013-101750","article-title":"WNT1 mutation with recessive osteogenesis imperfecta and profound neurological phenotype","volume":"50","author":"Faqeih","year":"2013","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.bone.2018.06.018_bb0060","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/j.ejmg.2014.10.001","article-title":"Mutations in patients with osteogenesis imperfecta from consanguineous Indian families","volume":"58","author":"Stephen","year":"2015","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.bone.2018.06.018_bb0065","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1136\/jmedgenet-2015-103476","article-title":"Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations","volume":"53","author":"Aldinger","year":"2016","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.bone.2018.06.018_bb0070","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1016\/j.cca.2016.07.012","article-title":"Genotype-phenotype analysis of a rare type of osteogenesis imperfecta in four Chinese families with WNT1 mutations","volume":"461","author":"Liu","year":"2016","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.bone.2018.06.018_bb0075","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1002\/mgg3.257","article-title":"Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta","volume":"5","author":"Caparros-Martin","year":"2017","journal-title":"Mol. Genet. Genomic Med."},{"key":"10.1016\/j.bone.2018.06.018_bb0080","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1038\/pr.2017.149","article-title":"Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3","volume":"82","author":"Umair","year":"2017","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.bone.2018.06.018_bb0085","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1016\/j.ejmg.2017.05.002","article-title":"Novel missense loss-of-function mutations of WNT1 in an autosomal recessive Osteogenesis imperfecta patient","volume":"60","author":"Won","year":"2017","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.bone.2018.06.018_bb0090","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1016\/j.bone.2014.06.041","article-title":"Skeletal characteristics associated with homozygous and heterozygous WNT1 mutations","volume":"67","author":"Palomo","year":"2014","journal-title":"Bone"},{"key":"10.1016\/j.bone.2018.06.018_bb0095","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1542\/peds.109.1.45","article-title":"Centers for Disease Control and Prevention 2000 growth charts for the United States: improvements to the 1977 National Center for Health Statistics version","volume":"109","author":"Ogden","year":"2002","journal-title":"Pediatrics"},{"key":"10.1016\/j.bone.2018.06.018_bb0100","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1038\/gim.2015.131","article-title":"Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta","volume":"18","author":"Bellur","year":"2016","journal-title":"Genet. Med."},{"key":"10.1016\/j.bone.2018.06.018_bb0105","doi-asserted-by":"crossref","first-page":"2975","DOI":"10.1007\/s00198-017-4141-x","article-title":"Long-term follow-up in osteogenesis imperfecta type VI","volume":"28","author":"Trejo","year":"2017","journal-title":"Osteoporos. Int."},{"key":"10.1016\/j.bone.2018.06.018_bb0110","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1007\/s00223-008-9113-x","article-title":"Evidence that abnormal high bone mineralization in growing children with osteogenesis imperfecta is not associated with specific collagen mutations","volume":"82","author":"Roschger","year":"2008","journal-title":"Calcif. Tissue Int."},{"key":"10.1016\/j.bone.2018.06.018_bb0115","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1016\/j.bone.2014.12.023","article-title":"Unique micro- and nano-scale mineralization pattern of human osteogenesis imperfecta type VI bone","volume":"73","author":"Fratzl-Zelman","year":"2015","journal-title":"Bone"},{"key":"10.1016\/j.bone.2018.06.018_bb0120","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1016\/0092-8674(90)90385-R","article-title":"The Wnt-1 (int-1) proto-oncogene is required for development of a large region of the mouse brain","volume":"62","author":"Mcmahon","year":"1990","journal-title":"Cell"},{"key":"10.1016\/j.bone.2018.06.018_bb0125","doi-asserted-by":"crossref","first-page":"1319","DOI":"10.1016\/j.cell.2016.05.053","article-title":"Leveraging rules of nonsense-mediated mRNA decay for genome engineering and personalized medicine","volume":"165","author":"Popp","year":"2016","journal-title":"Cell"}],"container-title":["Bone"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S8756328218302503?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S8756328218302503?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,9]],"date-time":"2025-11-09T03:39:28Z","timestamp":1762659568000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S8756328218302503"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,9]]},"references-count":25,"alternative-id":["S8756328218302503"],"URL":"https:\/\/doi.org\/10.1016\/j.bone.2018.06.018","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":"Novel WNT1 mutations in children with osteogenesis imperfecta: Clinical and functional characterization","name":"articletitle","label":"Article Title"},{"value":"Bone","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.bone.2018.06.018","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"}]}}