{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T00:27:32Z","timestamp":1790036852350,"version":"4.0.1"},"reference-count":16,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2010,3,1]],"date-time":"2010-03-01T00:00:00Z","timestamp":1267401600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2010,3,1]],"date-time":"2010-03-01T00:00:00Z","timestamp":1267401600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2010,3]]},"DOI":"10.1016\/j.ejmg.2009.12.001","type":"journal-article","created":{"date-parts":[[2010,1,5]],"date-time":"2010-01-05T04:09:01Z","timestamp":1262664541000},"page":"89-92","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":25,"title":["Craniosynostosis: A rare complication of pycnodysostosis"],"prefix":"10.1016","volume":"53","author":[{"given":"Sara","family":"Osimani","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Husson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandrine","family":"Passemard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monique","family":"Elmaleh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Perrin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chlo\u00e9","family":"Quelin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Marey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Delalande","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirella","family":"Filocamo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"Verloes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2009.12.001_bib1","first-page":"E633","article-title":"Pycnodysostosis. A report of 3 clinical cases","volume":"13","author":"Alves Pereira","year":"2008","journal-title":"Med. Oral Patol. Oral Cir. Bucal"},{"key":"10.1016\/j.ejmg.2009.12.001_bib2","doi-asserted-by":"crossref","first-page":"260","DOI":"10.14310\/horm.2002.1177","article-title":"Pycnodysostosis: Toulouse-Lautrec's and Aesop's disease?","volume":"1","author":"Bartsocas","year":"2002","journal-title":"Hormones (Athens)"},{"key":"10.1016\/j.ejmg.2009.12.001_bib3","first-page":"383","article-title":"Pycnodysostose et cr\u00e2niost\u00e9nose","volume":"27","author":"Bernard","year":"1980","journal-title":"Ann. P\u00e9diat."},{"key":"10.1016\/j.ejmg.2009.12.001_bib4","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1093\/hmg\/ddl474","article-title":"Novel pycnodysostosis mouse model uncovers cathepsin K function as a potential regulator of osteoclast apoptosis and senescence","volume":"16","author":"Chen","year":"2007","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ejmg.2009.12.001_bib5","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1002\/humu.9490","article-title":"Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis. Mutation in brief #961","volume":"28","author":"Donnarumma","year":"2007","journal-title":"Online Hum. Mutat."},{"key":"10.1016\/j.ejmg.2009.12.001_bib6","doi-asserted-by":"crossref","first-page":"1236","DOI":"10.1126\/science.273.5279.1236","article-title":"Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency","volume":"273","author":"Gelb","year":"1996","journal-title":"Science"},{"key":"10.1016\/j.ejmg.2009.12.001_bib7","doi-asserted-by":"crossref","first-page":"1649","DOI":"10.1359\/jbmr.1999.14.10.1649","article-title":"Mutations of CTSK result in pycnodysostosis via a reduction in cathepsin K protein","volume":"14","author":"Ho","year":"1999","journal-title":"J. Bone Miner Res."},{"key":"10.1016\/j.ejmg.2009.12.001_bib8","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1172\/JCI653","article-title":"Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis","volume":"103","author":"Hou","year":"1999","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.ejmg.2009.12.001_bib9","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1006\/bbrc.1995.1013","article-title":"Molecular cloning of human cDNA for cathepsin K: novel cysteine proteinase predominantly expressed in bone","volume":"206","author":"Inaoka","year":"1995","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.ejmg.2009.12.001_bib10","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1359\/jbmr.060313","article-title":"Mice lacking cathepsin K maintain bone remodeling but develop bone fragility despite high bone mass","volume":"21","author":"Li","year":"2006","journal-title":"J. Bone Miner Res."},{"key":"10.1016\/j.ejmg.2009.12.001_bib11","doi-asserted-by":"crossref","first-page":"1197","DOI":"10.1002\/jbmr.5650100809","article-title":"Cloning and complete coding sequence of a novel human cathepsin expressed in giant cells of osteoclastomas","volume":"10","author":"Li","year":"1995","journal-title":"J. Bone Miner Res."},{"key":"10.1016\/j.ejmg.2009.12.001_bib12","doi-asserted-by":"crossref","first-page":"407","DOI":"10.2174\/1566524023362401","article-title":"Pycnodysostosis: role and regulation of cathepsin K in osteoclast function and human disease","volume":"2","author":"Motyckova","year":"2002","journal-title":"Curr. Mol. Med."},{"key":"10.1016\/j.ejmg.2009.12.001_bib13","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1007\/s10067-007-0740-9","article-title":"Pedicle stress fracture: an unusual complication of pycnodysostosis","volume":"27","author":"Ornetti","year":"2008","journal-title":"Clin. Rheumatol."},{"key":"10.1016\/j.ejmg.2009.12.001_bib14","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1016\/0014-5793(96)00907-6","article-title":"Mouse cathepsin K: cDNA cloning and predominant expression of the gene in osteoclasts, and in some hypertrophying chondrocytes during mouse development","volume":"393","author":"Rantakokko","year":"1996","journal-title":"FEBS Lett."},{"key":"10.1016\/j.ejmg.2009.12.001_bib15","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1007\/s00198-006-0311-y","article-title":"High bone mineral density in pycnodysostotic patients with a novel mutation in the propeptide of cathepsin K","volume":"18","author":"Schilling","year":"2007","journal-title":"Osteoporos. Int."},{"key":"10.1016\/j.ejmg.2009.12.001_bib16","doi-asserted-by":"crossref","first-page":"1106","DOI":"10.1016\/S0021-9258(17)42227-7","article-title":"Molecular cloning of a possible cysteine proteinase predominantly expressed in osteoclasts","volume":"269","author":"Tezuka","year":"1994","journal-title":"J. Biol. Chem."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721209001591?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721209001591?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:37:35Z","timestamp":1761709055000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721209001591"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,3]]},"references-count":16,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2010,3]]}},"alternative-id":["S1769721209001591"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2009.12.001","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2010,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Craniosynostosis: A rare complication of pycnodysostosis","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2009.12.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2009 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}