{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T04:13:40Z","timestamp":1793333620150,"version":"4.5.0"},"reference-count":39,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2013,5,3]],"date-time":"2013-05-03T00:00:00Z","timestamp":1367539200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Calcif Tissue Int"],"published-print":{"date-parts":[[2013,7]]},"DOI":"10.1007\/s00223-013-9732-8","type":"journal-article","created":{"date-parts":[[2013,5,2]],"date-time":"2013-05-02T13:32:56Z","timestamp":1367501576000},"page":"93-100","source":"Crossref","is-referenced-by-count":7,"title":["Localization of the Gene for Hyperostosis Cranialis Interna to Chromosome 8p21 with Analysis of Three Candidate Genes"],"prefix":"10.1007","volume":"93","author":[{"given":"V. M.","family":"Borra","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. J.","family":"Waterval","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. J.","family":"Stokroos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. J.","family":"Manni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W.","family":"Van Hul","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2013,5,3]]},"reference":[{"key":"9732_CR1","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1615\/CritRevEukarGeneExpr.v20.i3.20","volume":"20","author":"B Perdu","year":"2010","unstructured":"Perdu B, Van Hul W (2010) Sclerosing bone disorders: too much of a good thing. Crit Rev Eukaryot Gene Expr 20:195\u2013212","journal-title":"Crit Rev Eukaryot Gene Expr"},{"key":"9732_CR2","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1056\/NEJM199002153220707","volume":"322","author":"JJ Manni","year":"1990","unstructured":"Manni JJ, Scaf JJ, Huygen PL, Cruysberg JR, Verhagen WI (1990) Hyperostosis cranialis interna. A new hereditary syndrome with cranial-nerve entrapment. N Engl J Med 322:450\u2013454","journal-title":"N Engl J Med"},{"key":"9732_CR3","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1002\/ajmg.a.33205","volume":"152A","author":"JJ Waterval","year":"2010","unstructured":"Waterval JJ, Stokroos RJ, Bauer NJ, De Bondt RB, Manni JJ (2010) Phenotypic manifestations and management of hyperostosis cranialis interna, a hereditary bone dysplasia affecting the calvaria and the skull base. Am J Med Genet A 152A:547\u2013555","journal-title":"Am J Med Genet A"},{"key":"9732_CR4","doi-asserted-by":"crossref","first-page":"75","DOI":"10.3109\/00016489209100786","volume":"112","author":"JJ Manni","year":"1992","unstructured":"Manni JJ, Huygen PL, Noten JF, Kuijpers W (1992) Eighth cranial nerve dysfunction in hyperostosis cranialis interna. Acta Otolaryngol 112:75\u201382","journal-title":"Acta Otolaryngol"},{"key":"9732_CR5","doi-asserted-by":"crossref","first-page":"1177","DOI":"10.1017\/S0022215109005349","volume":"123","author":"JJ Waterval","year":"2009","unstructured":"Waterval JJ, Stokroos RJ, De Bondt RB, Manni JJ (2009) Facial nerve decompression via middle fossa approach for hyperostosis cranialis interna: a feasible therapeutic approach. J Laryngol Otol 123:1177\u20131180","journal-title":"J Laryngol Otol"},{"key":"9732_CR6","doi-asserted-by":"crossref","first-page":"453","DOI":"10.3174\/ajnr.A2830","volume":"33","author":"JJ Waterval","year":"2012","unstructured":"Waterval JJ, van Dongen TM, Stokroos RJ, De Bondt BJ, Chenault MN, Manni JJ (2012) Imaging features and progression of hyperostosis cranialis interna. AJNR Am J Neuroradiol 33:453\u2013461","journal-title":"AJNR Am J Neuroradiol"},{"key":"9732_CR7","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1016\/0002-9343(62)90235-8","volume":"33","author":"F Buchem Van","year":"1962","unstructured":"Van Buchem F, Hadders H, Hansen J, Woldring M (1962) Hyperostosis corticalis generalisata. Report of seven cases. Am J Med 33:387\u2013397","journal-title":"Am J Med"},{"key":"9732_CR8","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1136\/jmg.2005.033522","volume":"43","author":"K Janssens","year":"2006","unstructured":"Janssens K, Vanhoenacker F, Bonduelle M, Verbruggen L, Van Maldergem L, Ralston S, Guanabens N, Migone N, Wientroub S, Divizia MT, Bergmann C, Bennett C, Simsek S, Melancon S, Cundy T, Van Hul W (2006) Camurati\u2013Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment. J Med Genet 43:1\u201311","journal-title":"J Med Genet"},{"key":"9732_CR9","first-page":"351","volume":"6","author":"H Hansen","year":"1967","unstructured":"Hansen H (1967) Sklerosteose. Handb Kinderheilk 6:351\u2013355","journal-title":"Handb Kinderheilk"},{"key":"9732_CR10","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1086\/302011","volume":"63","author":"KW Broman","year":"1998","unstructured":"Broman KW, Murray JC, Sheffield VC, White RL, Weber JL (1998) Comprehensive human genetic maps: individual and sex-specific variation in recombination. Am J Hum Genet 63:861\u2013869","journal-title":"Am J Hum Genet"},{"key":"9732_CR11","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1038\/72708","volume":"18","author":"M Schuelke","year":"2000","unstructured":"Schuelke M (2000) An economic method for the fluorescent labeling of PCR fragments. Nat Biotechnol 18:233\u2013234","journal-title":"Nat Biotechnol"},{"key":"9732_CR12","doi-asserted-by":"crossref","first-page":"3565","DOI":"10.1093\/bioinformatics\/bti571","volume":"21","author":"K Hoffmann","year":"2005","unstructured":"Hoffmann K, Lindner TH (2005) easyLINKAGE-Plus\u2014automated linkage analyses using large-scale SNP data. Bioinformatics 21:3565\u20133567","journal-title":"Bioinformatics"},{"key":"9732_CR13","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1093\/bioinformatics\/bti009","volume":"21","author":"TH Lindner","year":"2005","unstructured":"Lindner TH, Hoffmann K (2005) easyLINKAGE: a PERL script for easy and automated two-\/multi-point linkage analyses. Bioinformatics 21:405\u2013407","journal-title":"Bioinformatics"},{"key":"9732_CR14","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1186\/1471-2105-6-55","volume":"6","author":"EA Adie","year":"2005","unstructured":"Adie EA, Adams RR, Evans KL, Porteous DJ, Pickard BS (2005) Speeding disease gene discovery by sequence based candidate prioritization. BMC Bioinformatics 6:55","journal-title":"BMC Bioinformatics"},{"key":"9732_CR15","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1038\/nbt1203","volume":"24","author":"S Aerts","year":"2006","unstructured":"Aerts S, Lambrechts D, Maity S, Van Loo P, Coessens B, De Smet F, Tranchevent LC, De Moor B, Marynen P, Hassan B, Carmeliet P, Moreau Y (2006) Gene prioritization through genomic data fusion. Nat Biotechnol 24:537\u2013544","journal-title":"Nat Biotechnol"},{"key":"9732_CR16","doi-asserted-by":"crossref","first-page":"W377","DOI":"10.1093\/nar\/gkn325","volume":"36","author":"LC Tranchevent","year":"2008","unstructured":"Tranchevent LC, Barriot R, Yu S, Van Vooren S, Van Loo P, Coessens B, De Moor B, Aerts S, Moreau Y (2008) ENDEAVOUR update: a web resource for gene prioritization in multiple species. Nucleic Acids Res 36:W377\u2013W384","journal-title":"Nucleic Acids Res"},{"key":"9732_CR17","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/j.bbrc.2011.03.109","volume":"408","author":"L Grgurevic","year":"2011","unstructured":"Grgurevic L, Macek B, Mercep M, Jelic M, Smoljanovic T, Erjavec I, Dumic-Cule I, Prgomet S, Durdevic D, Vnuk D, Lipar M, Stejskal M, Kufner V, Brkljacic J, Maticic D, Vukicevic S (2011) Bone morphogenetic protein (BMP)1\u20133 enhances bone repair. Biochem Biophys Res Commun 408:25\u201331","journal-title":"Biochem Biophys Res Commun"},{"key":"9732_CR18","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1016\/j.ajhg.2012.02.026","volume":"90","author":"PV Asharani","year":"2012","unstructured":"Asharani PV, Keupp K, Semler O, Wang W, Li Y, Thiele H, Yigit G, Pohl E, Becker J, Frommolt P, Sonntag C, Altmuller J, Zimmermann K, Greenspan DS, Akarsu NA, Netzer C, Schonau E, Wirth R, Hammerschmidt M, Nurnberg P, Wollnik B, Carney TJ (2012) Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish. Am J Hum Genet 90:661\u2013674","journal-title":"Am J Hum Genet"},{"key":"9732_CR19","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1002\/bdrc.20060","volume":"78","author":"G Ge","year":"2006","unstructured":"Ge G, Greenspan DS (2006) Developmental roles of the BMP1\/TLD metalloproteinases. Birth Defects Res C Embryo Today 78:47\u201368","journal-title":"Birth Defects Res C Embryo Today"},{"key":"9732_CR20","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1002\/humu.21647","volume":"33","author":"V Martinez-Glez","year":"2012","unstructured":"Martinez-Glez V, Valencia M, Caparros-Martin JA, Aglan M, Temtamy S, Tenorio J, Pulido V, Lindert U, Rohrbach M, Eyre D, Giunta C, Lapunzina P, Ruiz-Perez VL (2012) Identification of a mutation causing deficient BMP1\/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta. Hum Mutat 33:343\u2013350","journal-title":"Hum Mutat"},{"key":"9732_CR21","doi-asserted-by":"crossref","first-page":"3587","DOI":"10.1242\/dev.122.11.3587","volume":"122","author":"N Suzuki","year":"1996","unstructured":"Suzuki N, Labosky PA, Furuta Y, Hargett L, Dunn R, Fogo AB, Takahara K, Peters DM, Greenspan DS, Hogan BL (1996) Failure of ventral body wall closure in mouse embryos lacking a procollagen C-proteinase encoded by Bmp1, a mammalian gene related to Drosophila tolloid. Development 122:3587\u20133595","journal-title":"Development"},{"key":"9732_CR22","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1016\/j.bbrc.2008.10.036","volume":"377","author":"H Nagaoka","year":"2008","unstructured":"Nagaoka H, Mochida Y, Atsawasuwan P, Kaku M, Kondoh T, Yamauchi M (2008) 1,25(OH)2D3 regulates collagen quality in an osteoblastic cell culture system. Biochem Biophys Res Commun 377:674\u2013678","journal-title":"Biochem Biophys Res Commun"},{"key":"9732_CR23","doi-asserted-by":"crossref","first-page":"909","DOI":"10.1074\/jbc.M110.155622","volume":"286","author":"M Iftikhar","year":"2011","unstructured":"Iftikhar M, Hurtado P, Bais MV, Wigner N, Stephens DN, Gerstenfeld LC, Trackman PC (2011) Lysyl oxidase-like-2 (LOXL2) is a major isoform in chondrocytes and is critically required for differentiation. J Biol Chem 286:909\u2013918","journal-title":"J Biol Chem"},{"key":"9732_CR24","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1007\/s00223-009-9252-8","volume":"85","author":"N Pischon","year":"2009","unstructured":"Pischon N, Maki JM, Weisshaupt P, Heng N, Palamakumbura AH, N\u2019Guessan P, Ding A, Radlanski R, Renz H, Bronckers TA, Myllyharju J, Kielbassa AM, Kleber BM, Bernimoulin JP, Trackman PC (2009) Lysyl oxidase (lox) gene deficiency affects osteoblastic phenotype. Calcif Tissue Int 85:119\u2013126","journal-title":"Calcif Tissue Int"},{"key":"9732_CR25","doi-asserted-by":"crossref","first-page":"1176","DOI":"10.1016\/j.devcel.2012.04.014","volume":"22","author":"KM Chan","year":"2012","unstructured":"Chan KM, Wong HL, Jin G, Liu B, Cao R, Cao Y, Lehti K, Tryggvason K, Zhou Z (2012) MT1-MMP inactivates ADAM9 to regulate FGFR2 signaling and calvarial osteogenesis. Dev Cell 22:1176\u20131190","journal-title":"Dev Cell"},{"key":"9732_CR26","doi-asserted-by":"crossref","first-page":"2793","DOI":"10.4161\/cc.20949","volume":"11","author":"HL Wong","year":"2012","unstructured":"Wong HL, Cao R, Jin G, Chan KM, Cao Y, Zhou Z (2012) When MT1-MMP meets ADAMs. Cell Cycle 11:2793\u20132798","journal-title":"Cell Cycle"},{"key":"9732_CR27","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1002\/jbmr.199","volume":"26","author":"H Ishizuka","year":"2011","unstructured":"Ishizuka H, Garcia-Palacios V, Lu G, Subler MA, Zhang H, Boykin CS, Choi SJ, Zhao L, Patrene K, Galson DL, Blair HC, Hadi TM, Windle JJ, Kurihara N, Roodman GD (2011) ADAM8 enhances osteoclast precursor fusion and osteoclast formation in vitro and in vivo. J Bone Miner Res 26:169\u2013181","journal-title":"J Bone Miner Res"},{"key":"9732_CR28","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1038\/ng.284","volume":"41","author":"U Styrkarsdottir","year":"2009","unstructured":"Styrkarsdottir U, Halldorsson BV, Gretarsdottir S, Gudbjartsson DF, Walters GB, Ingvarsson T, Jonsdottir T, Saemundsdottir J, Snorradottir S, Center JR, Nguyen TV, Alexandersen P, Gulcher JR, Eisman JA, Christiansen C, Sigurdsson G, Kong A, Thorsteinsdottir U, Stefansson K (2009) New sequence variants associated with bone mineral density. Nat Genet 41:15\u201317","journal-title":"Nat Genet"},{"key":"9732_CR29","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1086\/338450","volume":"70","author":"RD Little","year":"2002","unstructured":"Little RD, Carulli JP, Del Mastro RG, Dupuis J, Osborne M, Folz C, Manning SP, Swain PM, Zhao SC, Eustace B, Lappe MM, Spitzer L, Zweier S, Braunschweiger K, Benchekroun Y, Hu X, Adair R, Chee L, FitzGerald MG, Tulig C, Caruso A, Tzellas N, Bawa A, Franklin B, McGuire S, Nogues X, Gong G, Allen KM, Anisowicz A, Morales AJ, Lomedico PT, Recker SM, Van Eerdewegh P, Recker RR, Johnson ML (2002) A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait. Am J Hum Genet 70:11\u201319","journal-title":"Am J Hum Genet"},{"key":"9732_CR30","doi-asserted-by":"crossref","unstructured":"Little RD, Recker RR, Johnson ML (2002) High bone density due to a mutation in LDL-receptor-related protein 5. N Engl J Med 347:943\u2013944; author reply 943\u2013944","DOI":"10.1056\/NEJM200209193471216"},{"key":"9732_CR31","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1111\/j.1399-0004.1984.tb00481.x","volume":"25","author":"P Beighton","year":"1984","unstructured":"Beighton P, Barnard A, Hamersma H, van der Wouden A (1984) The syndromic status of sclerosteosis and van Buchem disease. Clin Genet 25:175\u2013181","journal-title":"Clin Genet"},{"key":"9732_CR32","doi-asserted-by":"crossref","first-page":"393","DOI":"10.7326\/0003-4819-84-4-393","volume":"84","author":"P Beighton","year":"1976","unstructured":"Beighton P, Durr L, Hamersma H (1976) The clinical features of sclerosteosis. A review of the manifestations in twenty-five affected individuals. Ann Intern Med 84:393\u2013397","journal-title":"Ann Intern Med"},{"key":"9732_CR33","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1136\/jmg.39.2.91","volume":"39","author":"W Balemans","year":"2002","unstructured":"Balemans W, Patel N, Ebeling M, Van Hul E, Wuyts W, Lacza C, Dioszegi M, Dikkers FG, Hildering P, Willems PJ, Verheij JB, Lindpaintner K, Vickery B, Foernzler D, Van Hul W (2002) Identification of a 52\u00a0kb deletion downstream of the SOST gene in patients with van Buchem disease. J Med Genet 39:91\u201397","journal-title":"J Med Genet"},{"key":"9732_CR34","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1093\/hmg\/10.5.537","volume":"10","author":"W Balemans","year":"2001","unstructured":"Balemans W, Ebeling M, Patel N, Van Hul E, Olson P, Dioszegi M, Lacza C, Wuyts W, Van Den Ende J, Willems P, Paes-Alves AF, Hill S, Bueno M, Ramos FJ, Tacconi P, Dikkers FG, Stratakis C, Lindpaintner K, Vickery B, Foernzler D, Van Hul W (2001) Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST). Hum Mol Genet 10:537\u2013543","journal-title":"Hum Mol Genet"},{"key":"9732_CR35","doi-asserted-by":"crossref","first-page":"19489","DOI":"10.1074\/jbc.M110.190330","volume":"286","author":"O Leupin","year":"2011","unstructured":"Leupin O, Piters E, Halleux C, Hu S, Kramer I, Morvan F, Bouwmeester T, Schirle M, Bueno-Lozano M, Fuentes FJ, Itin PH, Boudin E, de Freitas F, Jennes K, Brannetti B, Charara N, Ebersbach H, Geisse S, Lu CX, Bauer A, Van Hul W, Kneissel M (2011) Bone overgrowth-associated mutations in the LRP4 gene impair sclerostin facilitator function. J Biol Chem 286:19489\u201319500","journal-title":"J Biol Chem"},{"key":"9732_CR36","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1038\/81563","volume":"26","author":"K Janssens","year":"2000","unstructured":"Janssens K, Gershoni-Baruch R, Guanabens N, Migone N, Ralston S, Bonduelle M, Lissens W, Van Maldergem L, Vanhoenacker F, Verbruggen L, Van Hul W (2000) Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati\u2013Engelmann disease. Nat Genet 26:273\u2013275","journal-title":"Nat Genet"},{"key":"9732_CR37","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1086\/368277","volume":"72","author":"L Wesenbeeck Van","year":"2003","unstructured":"Van Wesenbeeck L, Cleiren E, Gram J, Beals RK, Benichou O, Scopelliti D, Key L, Renton T, Bartels C, Gong Y, Warman ML, De Vernejoul MC, Bollerslev J, Van Hul W (2003) Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density. Am J Hum Genet 72:763\u2013771","journal-title":"Am J Hum Genet"},{"key":"9732_CR38","doi-asserted-by":"crossref","unstructured":"Whyte MP, Reinus WH, Mumm S (2004) High-bone-mass disease and LRP5. N Engl J Med 350:2096\u20132099; author reply 2096\u20132099","DOI":"10.1056\/NEJM200405133502017"},{"key":"9732_CR39","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1159\/000334381","volume":"72","author":"JE Bailey-Wilson","year":"2011","unstructured":"Bailey-Wilson JE, Wilson AF (2011) Linkage analysis in the next-generation sequencing era. Hum Hered 72:228\u2013236","journal-title":"Hum Hered"}],"container-title":["Calcified Tissue International"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00223-013-9732-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00223-013-9732-8\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00223-013-9732-8","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,2,15]],"date-time":"2022-02-15T20:47:57Z","timestamp":1644958077000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00223-013-9732-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,5,3]]},"references-count":39,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013,7]]}},"alternative-id":["9732"],"URL":"https:\/\/doi.org\/10.1007\/s00223-013-9732-8","relation":{},"ISSN":["0171-967X","1432-0827"],"issn-type":[{"value":"0171-967X","type":"print"},{"value":"1432-0827","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,5,3]]}}}