{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T13:42:21Z","timestamp":1768916541015,"version":"3.49.0"},"reference-count":22,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2015,3,1]],"date-time":"2015-03-01T00:00:00Z","timestamp":1425168000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Calcif Tissue Int"],"published-print":{"date-parts":[[2015,5]]},"DOI":"10.1007\/s00223-015-9963-y","type":"journal-article","created":{"date-parts":[[2015,2,28]],"date-time":"2015-02-28T02:19:45Z","timestamp":1425089985000},"page":"373-378","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["A Mutation in CTSK Gene in an Autosomal Recessive Pycnodysostosis Family of Chinese Origin"],"prefix":"10.1007","volume":"96","author":[{"given":"Xianglan","family":"Huang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xuan","family":"Qi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mei","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ou","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoping","family":"Xing","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying Ying","family":"Hu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weibo","family":"Xia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2015,3,1]]},"reference":[{"key":"9963_CR1","first-page":"999","volume":"70","author":"P Maroteaux","year":"1962","unstructured":"Maroteaux P, Lamy M (1962) La pycnodysostose. Presse Med 70:999\u20131002","journal-title":"Presse Med"},{"key":"9963_CR2","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1001\/jama.1965.03080090029007","volume":"191","author":"P Maroteaux","year":"1965","unstructured":"Maroteaux P, Lamy M (1965) The malady of Toulouse-Lautrec. JAMA 191:715\u2013717","journal-title":"JAMA"},{"key":"9963_CR3","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1053\/meta.2001.24924","volume":"50","author":"AT Soliman","year":"2001","unstructured":"Soliman AT, Ramadan MA, Sherif A, Aziz BE, Rizk MM (2001) Pycnodysostosis: clinical, radiologic, and endocrine evaluation and linear growth after growth hormone therapy. Metabolism 50:905\u2013911","journal-title":"Metabolism"},{"key":"9963_CR4","doi-asserted-by":"crossref","first-page":"901","DOI":"10.1097\/SCS.0b013e31820f7f3c","volume":"22","author":"A Varol","year":"2011","unstructured":"Varol A, Sabuncuoglu FA, Sencimen M, Akcam T, Olmez H, Basa S (2011) Rigid external maxillary distraction and rhinoplasty for pyknodysostosis. J Craniofac Surg 22:901\u2013904","journal-title":"J Craniofac Surg"},{"key":"9963_CR5","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1007\/s11325-010-0479-4","volume":"16","author":"MG Della","year":"2012","unstructured":"Della MG, Scarano E, Leoni C, Dittoni S, Losurdo A, Testani E, Colicchio S, Gnoni V, Vollono C, Zampino G (2012) Pycnodysostosis with extreme sleep apnea: a possible alternative to tracheotomy. Sleep Breath 16:5\u201310","journal-title":"Sleep Breath"},{"key":"9963_CR6","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1016\/j.ijom.2010.07.006","volume":"40","author":"F Hernandez-Alfaro","year":"2011","unstructured":"Hernandez-Alfaro F, Arenaz BJ, Serra SM, Mareque BJ (2011) Orthognathic surgery in pycnodysostosis: a case report. Int J Oral Maxillofac Surg 40:110\u2013113","journal-title":"Int J Oral Maxillofac Surg"},{"key":"9963_CR7","doi-asserted-by":"crossref","first-page":"6544","DOI":"10.4076\/1757-1626-2-6544","volume":"2","author":"Q Mujawar","year":"2009","unstructured":"Mujawar Q, Naganoor R, Patil H, Thobbi AN, Ukkali S, Malagi N (2009) Pycnodysostosis with unusual findings: a case report. Cases J 2:6544","journal-title":"Cases J"},{"key":"9963_CR8","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1038\/ng0695-235","volume":"10","author":"BD Gelb","year":"1995","unstructured":"Gelb BD, Edelson JG, Desnick RJ (1995) Linkage of pycnodysostosis to chromosome 1q21 by homozygosity mapping. Nat Genet 10:235\u2013237","journal-title":"Nat Genet"},{"key":"9963_CR9","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1038\/ng0695-238","volume":"10","author":"MH Polymeropoulos","year":"1995","unstructured":"Polymeropoulos MH, Ortiz DLR, Ide SE, Torres R, Rubenstein J, Francomano CA (1995) The gene for pycnodysostosis maps to human chromosome 1cen-q21. Nat Genet 10:238\u2013239","journal-title":"Nat Genet"},{"key":"9963_CR10","doi-asserted-by":"crossref","first-page":"1236","DOI":"10.1126\/science.273.5279.1236","volume":"273","author":"BD Gelb","year":"1996","unstructured":"Gelb BD, Shi GP, Chapman HA, Desnick RJ (1996) Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency. Science 273:1236\u20131238","journal-title":"Science"},{"key":"9963_CR11","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1002\/humu.9490","volume":"28","author":"M Donnarumma","year":"2007","unstructured":"Donnarumma M, Regis S, Tappino B, Rosano C, Assereto S, Corsolini F, Di Rocco M, Filocamo M (2007) Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis. Mutation in brief #961. Hum Mutat 28:524","journal-title":"Hum Mutat"},{"key":"9963_CR12","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1006\/bbrc.1995.1013","volume":"206","author":"T Inaoka","year":"1995","unstructured":"Inaoka T, Bilbe G, Ishibashi O, Tezuka K, Kumegawa M, Kokubo T (1995) Molecular cloning of human cDNA for cathepsin K: novel cysteine proteinase predominantly expressed in bone. Biochem Biophys Res Commun 206:89\u201396","journal-title":"Biochem Biophys Res Commun"},{"key":"9963_CR13","doi-asserted-by":"crossref","first-page":"13453","DOI":"10.1073\/pnas.95.23.13453","volume":"95","author":"P Saftig","year":"1998","unstructured":"Saftig P, Hunziker E, Wehmeyer O, Jones S, Boyde A, Rommerskirch W, Moritz JD, Schu P, von Figura K (1998) Impaired osteoclastic bone resorption leads to osteopetrosis in cathepsin-K-deficient mice. Proc Natl Acad Sci USA 95:13453\u201313458","journal-title":"Proc Natl Acad Sci USA"},{"key":"9963_CR14","doi-asserted-by":"crossref","first-page":"1654","DOI":"10.1359\/jbmr.1999.14.10.1654","volume":"14","author":"M Gowen","year":"1999","unstructured":"Gowen M, Lazner F, Dodds R, Kapadia R, Feild J, Tavaria M, Bertoncello I, Drake F, Zavarselk S, Tellis I, Hertzog P, Debouck C, Kola I (1999) Cathepsin K knockout mice develop osteopetrosis due to a deficit in matrix degradation but not demineralization. J Bone Miner Res 14:1654\u20131663","journal-title":"J Bone Miner Res"},{"key":"9963_CR15","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1359\/jbmr.060313","volume":"21","author":"CY Li","year":"2006","unstructured":"Li CY, Jepsen KJ, Majeska RJ, Zhang J, Ni R, Gelb BD, Schaffler MB (2006) Mice lacking cathepsin K maintain bone remodeling but develop bone fragility despite high bone mass. J Bone Miner Res 21:865\u2013875","journal-title":"J Bone Miner Res"},{"key":"9963_CR16","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1007\/s002230001152","volume":"67","author":"H Uusitalo","year":"2000","unstructured":"Uusitalo H, Hiltunen A, Soderstrom M, Aro HT, Vuorio E (2000) Expression of cathepsins B, H, K, L, and S and matrix metalloproteinases 9 and 13 during chondrocyte hypertrophy and endochondral ossification in mouse fracture callus. Calcif Tissue Int 67:382\u2013390","journal-title":"Calcif Tissue Int"},{"key":"9963_CR17","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1016\/S1357-4310(99)01563-4","volume":"5","author":"F Lazner","year":"1999","unstructured":"Lazner F, Gowen M, Kola I (1999) An animal model for pycnodysostosis: the role of cathepsin K in bone remodelling. Mol Med Today 5:413\u2013414","journal-title":"Mol Med Today"},{"key":"9963_CR18","doi-asserted-by":"crossref","first-page":"1654","DOI":"10.1359\/jbmr.1999.14.10.1654","volume":"14","author":"M Gowen","year":"1999","unstructured":"Gowen M, Lazner F, Dodds R, Kapadia R, Feild J, Tavaria M, Bertoncello I, Drake F, Zavarselk S, Tellis I, Hertzog P, Debouck C, Kola I (1999) Cathepsin K knockout mice develop osteopetrosis due to a deficit in matrix degradation but not demineralization. J Bone Miner Res 14:1654\u20131663","journal-title":"J Bone Miner Res"},{"key":"9963_CR19","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/j.bone.2004.09.020","volume":"36","author":"R Kiviranta","year":"2005","unstructured":"Kiviranta R, Morko J, Alatalo SL, NicAmhlaoibh R, Risteli J, Laitala-Leinonen T, Vuorio E (2005) Impaired bone resorption in cathepsin K-deficient mice is partially compensated for by enhanced osteoclastogenesis and increased expression of other proteases via an increased RANKL\/OPG ratio. Bone 36:159\u2013172","journal-title":"Bone"},{"key":"9963_CR20","doi-asserted-by":"crossref","first-page":"13453","DOI":"10.1073\/pnas.95.23.13453","volume":"95","author":"P Saftig","year":"1998","unstructured":"Saftig P, Hunziker E, Wehmeyer O, Jones S, Boyde A, Rommerskirch W, Moritz JD, Schu P, von Figura K (1998) Impaired osteoclastic bone resorption leads to osteopetrosis in cathepsin-K-deficient mice. Proc Natl Acad Sci U S A 95:13453\u201313458","journal-title":"Proc Natl Acad Sci U S A"},{"key":"9963_CR21","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1177\/147323000903700133","volume":"37","author":"HY Li","year":"2009","unstructured":"Li HY, Ma HW, Wang HQ, Ma WH (2009) Molecular analysis of a novel cathepsin K gene mutation in a Chinese child with pycnodysostosis. J Int Med Res 37:264\u2013269","journal-title":"J Int Med Res"},{"key":"9963_CR22","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1016\/j.gene.2013.03.014","volume":"521","author":"H Zheng","year":"2013","unstructured":"Zheng H, Zhang Z, He JW, Fu WZ, Zhang ZL (2013) A novel mutation (R122Q) in the cathepsin K gene in a Chinese child with Pyknodysostosis. Gene 521:176\u2013179","journal-title":"Gene"}],"container-title":["Calcified Tissue International"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00223-015-9963-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00223-015-9963-y\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00223-015-9963-y","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,8,21]],"date-time":"2019-08-21T07:33:48Z","timestamp":1566372828000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00223-015-9963-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,3,1]]},"references-count":22,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2015,5]]}},"alternative-id":["9963"],"URL":"https:\/\/doi.org\/10.1007\/s00223-015-9963-y","relation":{},"ISSN":["0171-967X","1432-0827"],"issn-type":[{"value":"0171-967X","type":"print"},{"value":"1432-0827","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,3,1]]}}}