{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T05:42:21Z","timestamp":1790401341265,"version":"4.1.0"},"reference-count":21,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2011,9,1]],"date-time":"2011-09-01T00:00:00Z","timestamp":1314835200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,16]],"date-time":"2013-07-16T00:00:00Z","timestamp":1373932800000},"content-version":"vor","delay-in-days":684,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/3.0\/"}],"funder":[{"name":"E-rare project JTC 2007 OSTEOPETR"},{"name":"Fondazione Cariplo"},{"name":"Telethon Foundation","award":["GGP10116"],"award-info":[{"award-number":["GGP10116"]}]},{"name":"Ministero della Salute, convenzione 47"},{"name":"European Commission","award":["HEALTH-F2-2008-201099"],"award-info":[{"award-number":["HEALTH-F2-2008-201099"]}]},{"name":"Fonds voor Wetenschappelijk Onderzoek\u2019 [FWO, G.0065.10N"},{"name":"Special Research Funds (BOF TOP and NOI) of the University of Antwerp"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Bone"],"published-print":{"date-parts":[[2011,9]]},"DOI":"10.1016\/j.bone.2011.05.006","type":"journal-article","created":{"date-parts":[[2011,5,12]],"date-time":"2011-05-12T15:18:59Z","timestamp":1305213539000},"page":"568-571","source":"Crossref","is-referenced-by-count":28,"title":["Identification of the first deletion in the LRP5 gene in a patient with Autosomal Dominant Osteopetrosis type I"],"prefix":"10.1016","volume":"49","author":[{"given":"Alessandra","family":"Pangrazio","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eveline","family":"Boudin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elke","family":"Piters","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Damante","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia Lo","family":"Iacono","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela Valentina","family":"D'Elia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Vezzoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wim","family":"Van Hul","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Villa","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.2011.05.006_bb0005","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1016\/8756-3282(88)90021-X","article-title":"Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis","volume":"9","author":"Bollerslev","year":"1988","journal-title":"Bone"},{"key":"10.1016\/j.bone.2011.05.006_bb0010","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1016\/S0092-8674(01)00571-2","article-title":"LDL receptor related protein 5 (LRP5) affects bone accrual and eye development","volume":"107","author":"Gong","year":"2001","journal-title":"Cell"},{"key":"10.1016\/j.bone.2011.05.006_bb0015","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1086\/497706","article-title":"Osteoporosis-Pseudoglioma Collaborative Group. Clinical and molecular findings in osteoporosis-pseudoglioma syndrome","volume":"77","author":"Ai","year":"2005","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.bone.2011.05.006_bb0020","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1016\/j.jbspin.2004.10.008","article-title":"LRP5 mutations in osteoporosis-pseudoglioma syndrome and high-bone-mass disorders","volume":"72","author":"Levasseur","year":"2005","journal-title":"Joint Bone Spine"},{"key":"10.1016\/j.bone.2011.05.006_bb0025","doi-asserted-by":"crossref","first-page":"1513","DOI":"10.1056\/NEJMoa013444","article-title":"High bone density due to a mutation in LDL-receptor-related protein 5","volume":"346","author":"Boyden","year":"2002","journal-title":"N Engl J Med"},{"key":"10.1016\/j.bone.2011.05.006_bb0030","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1086\/338450","article-title":"A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait","volume":"70","author":"Little","year":"2002","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.bone.2011.05.006_bb0035","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1086\/368277","article-title":"Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density","volume":"72","author":"Van Wesenbeeck","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.bone.2011.05.006_bb0040","doi-asserted-by":"crossref","first-page":"878","DOI":"10.1359\/JBMR.041223","article-title":"Oropharyngeal skeletal disease accompanying high bone mass and novel LRP5 mutation","volume":"20","author":"Rickels","year":"2005","journal-title":"J Bone Miner Res"},{"key":"10.1016\/j.bone.2011.05.006_bb0045","doi-asserted-by":"crossref","first-page":"708","DOI":"10.1359\/jbmr.070211","article-title":"Novel LRP5 missense mutation in a patient with a high bone mass phenotype results in decreased DKK1-mediated inhibition of Wnt signaling","volume":"22","author":"Balemans","year":"2007","journal-title":"J Bone Miner Res"},{"key":"10.1016\/j.bone.2011.05.006_bb0050","doi-asserted-by":"crossref","first-page":"2622","DOI":"10.1210\/en.2006-1352","article-title":"The genetics of low-density lipoprotein receptor-related protein 5 in bone: a story of extremes","volume":"148","author":"Balemans","year":"2007","journal-title":"Endocrinology"},{"key":"10.1016\/j.bone.2011.05.006_bb0055","doi-asserted-by":"crossref","first-page":"1277","DOI":"10.1001\/jama.299.11.1277","article-title":"Large-scale analysis of association between LRP5 and LRP6 variants and osteoporosis","volume":"299","author":"van Meurs","year":"2008","journal-title":"JAMA"},{"key":"10.1016\/j.bone.2011.05.006_bb0060","doi-asserted-by":"crossref","first-page":"4677","DOI":"10.1128\/MCB.24.11.4677-4684.2004","article-title":"The LRP5 high-bone-mass G171V mutation disrupts LRP5 interaction with Mesd","volume":"24","author":"Zhang","year":"2004","journal-title":"Mol Cell Biol"},{"key":"10.1016\/j.bone.2011.05.006_bb0065","doi-asserted-by":"crossref","first-page":"4946","DOI":"10.1128\/MCB.25.12.4946-4955.2005","article-title":"Reduced affinity to and inhibition by DKK1 form a common mechanism by which high bone mass-associated missense mutations in LRP5 affect canonical Wnt signaling","volume":"25","author":"Ai","year":"2005","journal-title":"Mol Cell Biol"},{"key":"10.1016\/j.bone.2011.05.006_bb0070","doi-asserted-by":"crossref","first-page":"1738","DOI":"10.1359\/jbmr.060810","article-title":"Bone density ligand, Sclerostin, directly interacts with LRP5 but not LRP5G171V to modulate Wnt activity","volume":"21","author":"Ellies","year":"2006","journal-title":"J Bone Miner Res"},{"key":"10.1016\/j.bone.2011.05.006_bb0075","doi-asserted-by":"crossref","first-page":"38276","DOI":"10.1074\/jbc.M609509200","article-title":"LRP5 mutations linked to high bone mass diseases cause reduced LRP5 binding and inhibition by SOST","volume":"281","author":"Semenov","year":"2006","journal-title":"J Biol Chem"},{"key":"10.1016\/j.bone.2011.05.006_bb0080","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1007\/s00223-008-9130-9","article-title":"The binding between sclerostin and LRP5 is altered by DKK1 and by high-bone mass LRP5 mutations","volume":"82","author":"Balemans","year":"2008","journal-title":"Calcif Tissue Int"},{"key":"10.1016\/j.bone.2011.05.006_bb0085","doi-asserted-by":"crossref","first-page":"1066","DOI":"10.1002\/jcb.22335","article-title":"A cell-based Dkk1 binding assay reveals roles for extracellular domains of LRP5 in Dkk1 interaction and highlights differences between wild-type and the high bone mass mutant LRP5(G171V)","volume":"108","author":"Murrills","year":"2009","journal-title":"J Cell Biochem"},{"key":"10.1016\/j.bone.2011.05.006_bb0090","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/j.gene.2006.12.014","article-title":"Structure-based mutation analysis shows the importance of LRP5 beta-propeller 1 in modulating Dkk1-mediated inhibition of Wnt signaling","volume":"391","author":"Bhat","year":"2007","journal-title":"Gene"},{"key":"10.1016\/j.bone.2011.05.006_bb0095","doi-asserted-by":"crossref","first-page":"1740","DOI":"10.1359\/jbmr.2003.18.10.1740","article-title":"Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis","volume":"18","author":"Frattini","year":"2003","journal-title":"J Bone Miner Res"},{"key":"10.1016\/j.bone.2011.05.006_bb0100","doi-asserted-by":"crossref","first-page":"E1071","DOI":"10.1002\/humu.21167","article-title":"Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations","volume":"31","author":"Pangrazio","year":"2010","journal-title":"Hum Mutat"},{"key":"10.1016\/j.bone.2011.05.006_bb0105","doi-asserted-by":"crossref","first-page":"1788","DOI":"10.1002\/eji.200738118","article-title":"The canonical Wnt signaling pathway plays an important role in lymphopoiesis and hematopoiesis","volume":"38","author":"Staal","year":"2008","journal-title":"Eur J Immunol"}],"container-title":["Bone"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S875632821100980X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S875632821100980X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,12,2]],"date-time":"2018-12-02T15:56:59Z","timestamp":1543766219000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S875632821100980X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,9]]},"references-count":21,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2011,9]]}},"alternative-id":["S875632821100980X"],"URL":"https:\/\/doi.org\/10.1016\/j.bone.2011.05.006","relation":{},"ISSN":["8756-3282"],"issn-type":[{"value":"8756-3282","type":"print"}],"subject":[],"published":{"date-parts":[[2011,9]]}}}