{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T23:59:19Z","timestamp":1790553559162,"version":"4.1.0"},"reference-count":29,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[2017,3,23]],"date-time":"2017-03-23T00:00:00Z","timestamp":1490227200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2017,3,23]],"date-time":"2017-03-23T00:00:00Z","timestamp":1490227200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Hum Genet"],"published-print":{"date-parts":[[2017,8]]},"DOI":"10.1038\/jhg.2017.38","type":"journal-article","created":{"date-parts":[[2017,3,23]],"date-time":"2017-03-23T08:19:25Z","timestamp":1490257165000},"page":"797-801","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":38,"title":["Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia"],"prefix":"10.1038","volume":"62","author":[{"given":"Long","family":"Guo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nursel H","family":"Elcioglu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuji","family":"Mizumoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zheng","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bilge","family":"Noyan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hatice M","family":"Albayrak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuhei","family":"Yamada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noriko","family":"Miyake","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gen","family":"Nishimura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shiro","family":"Ikegawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2017,3,23]]},"reference":[{"key":"BFjhg201738_CR1","doi-asserted-by":"publisher","first-page":"447","DOI":"10.1038\/jhg.2016.143","volume":"62","author":"L Guo","year":"2016","unstructured":"Guo, L ., Elcioglu, N. H ., Iida, A ., Demirkol, Y. K ., Aras, S ., Matsumoto, N. et al. Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2. J. Hum. Genet. 62, 447\u2013451 (2016).","journal-title":"J. Hum. Genet."},{"key":"BFjhg201738_CR2","doi-asserted-by":"publisher","first-page":"437","DOI":"10.1038\/jhg.2016.136","volume":"62","author":"L Guo","year":"2016","unstructured":"Guo, L ., Girisha, K. M ., Iida, A ., Hebbar, M ., Shukla, A ., Shah, H. et al. Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia. J. Hum. Genet. 62, 437\u2013441 (2016).","journal-title":"J. Hum. Genet."},{"key":"BFjhg201738_CR3","doi-asserted-by":"crossref","unstructured":"Wang, Z ., Horemuzova, E ., Iida, A ., Guo, L ., Liu, Y ., Matsumoto, N. et al. Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations. J. Hum. Genet. (e-pub ahead of print 26 January 2017; doi: 10.1038\/jhg.2016.157).","DOI":"10.1038\/jhg.2016.157"},{"key":"BFjhg201738_CR4","doi-asserted-by":"publisher","first-page":"395","DOI":"10.1111\/cge.12455","volume":"87","author":"S Miyatake","year":"2015","unstructured":"Miyatake, S ., Tada, H ., Moriya, S ., Takanashi, J ., Hirano, Y ., Hayashi, M. et al. Atypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy. Clin. Genet. 87, 395\u2013397 (2015).","journal-title":"Clin. Genet."},{"key":"BFjhg201738_CR5","doi-asserted-by":"publisher","first-page":"10953","DOI":"10.1074\/jbc.R112.437038","volume":"288","author":"S Mizumoto","year":"2013","unstructured":"Mizumoto, S ., Ikegawa, S. & Sugahara, K. Human genetic disorders caused by mutations in genes encoding biosynthetic enzymes for sulfated glycosaminoglycans. J. Biol. Chem. 288, 10953\u201310961 (2013).","journal-title":"J. Biol. Chem."},{"key":"BFjhg201738_CR6","doi-asserted-by":"publisher","first-page":"495764","DOI":"10.1155\/2014\/495764","volume":"2014","author":"S Mizumoto","year":"2014","unstructured":"Mizumoto, S ., Yamada, S. & Sugahara, K. Human genetic disorders and knockout mice deficient in glycosaminoglycan. Biomed. Res. Int. 2014, 495764 (2014).","journal-title":"Biomed. Res. Int."},{"key":"BFjhg201738_CR7","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1016\/j.ajhg.2011.05.021","volume":"89","author":"S Baasanjav","year":"2011","unstructured":"Baasanjav, S ., Al-Gazali, L ., Hashiguchi, T ., Mizumoto, S ., Fischer, B ., Horn, D. et al. Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. Am. J. Hum. Genet. 89, 15\u201327 (2011).","journal-title":"Am. J. Hum. Genet."},{"key":"BFjhg201738_CR8","doi-asserted-by":"publisher","first-page":"7176","DOI":"10.1073\/pnas.131188498","volume":"109","author":"BT Kim","year":"2001","unstructured":"Kim, B. T ., Kitagawa, H ., Tamura, J ., Saito, T ., Kusche-Gullberg, M ., Lindahl, U. et al. Human tumor suppressor EXT gene family members EXTL1 and EXTL3 encode alpha 1,4-N-acetylglucosaminyltransferases that likely are involved in heparan sulfate\/heparin biosynthesis. Proc. Natl Acad. Sci. USA 109, 7176\u20137181 (2001).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"BFjhg201738_CR9","doi-asserted-by":"publisher","first-page":"1083","DOI":"10.1093\/oxfordjournals.jbchem.a124810","volume":"117","author":"H Kitagawa","year":"1995","unstructured":"Kitagawa, H ., Tsuchida, K ., Ujikawa, M. & Sugahara, K. Detection and characterization of UDP-GalNAc: chondroitin N-acetylgalactosaminyltransferase in bovine serum using a simple assay method. J. Biochem. 117, 1083\u20131087 (1995).","journal-title":"J. Biochem."},{"key":"BFjhg201738_CR10","doi-asserted-by":"publisher","first-page":"2869","DOI":"10.1002\/ajmg.a.37365","volume":"167","author":"L Bonafe","year":"2015","unstructured":"Bonafe, L ., Cormier-Daire, V ., Hall, C ., Lachman, R ., Mortier, G ., Mundlos, S. et al. Nosology and classification of genetic skeletal disorders: 2015 revision. Am. J. Med. Genet. A 167, 2869\u20132892 (2015).","journal-title":"Am. J. Med. Genet. A"},{"key":"BFjhg201738_CR11","doi-asserted-by":"publisher","first-page":"2436","DOI":"10.1002\/ajmg.a.37823","volume":"170","author":"S Moosa","year":"2016","unstructured":"Moosa, S ., Fano, V ., Obregon, M. G ., Altm\u00fcller, J ., Thiele, H ., N\u00fcrnberg, P. et al. A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival. Am. J. Med. Genet. A 170, 2436\u20132439 (2016).","journal-title":"Am. J. Med. Genet. A"},{"key":"BFjhg201738_CR12","doi-asserted-by":"publisher","first-page":"2470","DOI":"10.1002\/ajmg.a.37173","volume":"167A","author":"H Lee","year":"2015","unstructured":"Lee, H ., Nevarez, L ., Lachman, R. S ., Wilcox, W. R ., Krakow, D ., Cohn, D. H. et al. A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1). Am. J. Med. Genet. A 167A, 2470\u20132473 (2015).","journal-title":"Am. J. Med. Genet. A"},{"key":"BFjhg201738_CR13","doi-asserted-by":"publisher","first-page":"113","DOI":"10.1016\/j.bbrc.2009.03.140","volume":"383","author":"I Takahashi","year":"2009","unstructured":"Takahashi, I ., Noguchi, N ., Nata, K ., Yamada, S ., Kaneiwa, T ., Mizumoto, S. et al. Important role of heparan sulfate in postnatal islet growth and insulin secretion. Biochem. Biophys. Res. Commun. 383, 113\u2013118 (2009).","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"BFjhg201738_CR14","doi-asserted-by":"publisher","first-page":"33905","DOI":"10.1074\/jbc.M112.401646","volume":"287","author":"K Holmborn","year":"2012","unstructured":"Holmborn, K ., Habicher, J ., Kasza, Z ., Eriksson, A. S ., Filipek-Gorniok, B ., Gopal, S. et al. On the roles and regulation of chondroitin sulfate and heparan sulfate in zebrafish pharyngeal cartilage morphogenesis. J. Biol. Chem. 287, 33905\u201333916 (2012).","journal-title":"J. Biol. Chem."},{"key":"BFjhg201738_CR15","doi-asserted-by":"publisher","first-page":"4963","DOI":"10.1242\/dev.02084","volume":"132","author":"WHJ Norton","year":"2005","unstructured":"Norton, W. H. J ., Ledin, J ., Grandel, H. & Neumann, C. J. HSPG synthesis by zebrafish Ext2 and Extl3 is required for Fgf10 signalling during limb development. Development 132, 4963\u20134973 (2005).","journal-title":"Development"},{"key":"BFjhg201738_CR16","doi-asserted-by":"publisher","first-page":"354","DOI":"10.1038\/15537","volume":"23","author":"Y Yamada","year":"1999","unstructured":"Yamada, Y ., Arikawa-Hirasawa, E ., Watanabe, H ., Takami, H. & Hassell, J. R. Perlecan is essential for cartilage and cephalic development. Nat. Genet. 23, 354\u2013358 (1999).","journal-title":"Nat. Genet."},{"key":"BFjhg201738_CR17","doi-asserted-by":"publisher","first-page":"152","DOI":"10.1016\/j.ydbio.2005.03.003","volume":"282","author":"BL Viviano","year":"2005","unstructured":"Viviano, B. L ., Silverstein, L ., Pflederer, C ., Paine-Saunders, S ., Mills, K. & Saunders, S. Altered hematopoiesis in glypican-3-deficient mice results in decreased osteoclast differentiation and a delay in endochondral ossification. Dev. Biol. 282, 152\u2013162 (2005).","journal-title":"Dev. Biol."},{"key":"BFjhg201738_CR18","doi-asserted-by":"publisher","first-page":"530","DOI":"10.1038\/nrm1681","volume":"6","author":"U H\u00e4cker","year":"2005","unstructured":"H\u00e4cker, U ., Nybakken, K. & Perrimon, N. Heparan sulphate proteoglycans: the sweet side of development. Nat. Rev. Mol. Cell Biol. 6, 530\u2013541 (2005).","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"BFjhg201738_CR19","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1002\/dvdy.22067","volume":"239","author":"C Fuerer","year":"2010","unstructured":"Fuerer, C ., Habib, S. J. & Nusse, R. A study on the interactions between heparan sulfate proteoglycans and Wnt proteins. Dev. Dyn. 239, 184\u2013190 (2010).","journal-title":"Dev. Dyn."},{"key":"BFjhg201738_CR20","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1016\/B978-0-12-386035-4.00002-1","volume":"291","author":"A Kikuchi","year":"2011","unstructured":"Kikuchi, A ., Yamamoto, H ., Sato, A. & Matsumoto, S. New insights into the mechanism of Wnt signaling pathway activation. Int. Rev. Cell Mol. Biol. 291, 21\u201371 (2011).","journal-title":"Int. Rev. Cell Mol. Biol."},{"key":"BFjhg201738_CR21","doi-asserted-by":"publisher","first-page":"631","DOI":"10.1083\/jcb.118.3.631","volume":"118","author":"BB Olwin","year":"1992","unstructured":"Olwin, B. B. & Rapraeger, A. Repression of myogenic differentiation by aFGF, bFGF, and K-FGF is dependent on cellular heparan sulfate. J. Cell Biol. 118, 631\u2013639 (1992).","journal-title":"J. Cell Biol."},{"key":"BFjhg201738_CR22","doi-asserted-by":"publisher","first-page":"1705","DOI":"10.1126\/science.1646484","volume":"252","author":"AC Rapraeger","year":"1991","unstructured":"Rapraeger, A. C ., Krufka, A. & Olwin, B. B. Requirement of heparan sulfate for bFGF-mediated fibroblast growth and myoblast differentiation. Science 252, 1705\u20131708 (1991).","journal-title":"Science"},{"key":"BFjhg201738_CR23","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1016\/j.devcel.2011.06.027","volume":"21","author":"K Shimokawa","year":"2011","unstructured":"Shimokawa, K ., Kimura-Yoshida, C ., Nagai, N ., Mukai, K ., Matsubara, K ., Watanabe, H. et al. Cell surface heparan sulfate chains regulate local reception of FGF signaling in the mouse embryo. Dev. Cell 21, 257\u2013272 (2011).","journal-title":"Dev. Cell"},{"key":"BFjhg201738_CR24","doi-asserted-by":"publisher","first-page":"2845","DOI":"10.1634\/stemcells.2007-0065","volume":"25","author":"KJ Manton","year":"2007","unstructured":"Manton, K. J ., Leong, D. F. M ., Cool, S. M. & Nurcombe, V. Disruption of heparan and chondroitin sulfate signaling enhances mesenchymal stem cell-derived osteogenic differentiation via bone morphogenetic protein signaling pathways. Stem Cells 25, 2845\u20132854 (2007).","journal-title":"Stem Cells"},{"key":"BFjhg201738_CR25","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1097\/00001432-200204000-00007","volume":"15","author":"D Lilic","year":"2002","unstructured":"Lilic, D. New perspectives on the immunology of chronic mucocutaneous candidiasis. Curr. Opin. Infect. Dis. 15, 143\u2013147 (2002).","journal-title":"Curr. Opin. Infect. Dis."},{"key":"BFjhg201738_CR26","doi-asserted-by":"publisher","first-page":"812","DOI":"10.4103\/0975-7406.163577","volume":"7","author":"SA Warrier","year":"2015","unstructured":"Warrier, S. A. & Sathasivasubramanian, S. Human immunodeficiency virus induced oral candidiasis. J. Pharm. Bioallied Sci. 7, 812 (2015).","journal-title":"J. Pharm. Bioallied Sci."},{"key":"BFjhg201738_CR27","doi-asserted-by":"publisher","first-page":"367","DOI":"10.1016\/j.jaad.2015.01.055","volume":"73","author":"DC Pichard","year":"2015","unstructured":"Pichard, D. C ., Freeman, A. F. & Cowen, E. W. Primary immunodeficiency update: Part II. Syndromes associated with mucocutaneous candidiasis and noninfectious cutaneous manifestations. J. Am. Acad. Dermatol. 73, 367\u2013381 (2015).","journal-title":"J. Am. Acad. Dermatol."},{"key":"BFjhg201738_CR28","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1084\/jem.20161525","volume":"214","author":"S Volpi","year":"2017","unstructured":"Volpi, S ., Yamazaki, Y ., Brauer, P. M ., van Rooijen, E ., Hayashida, A ., Slavotinek, A. et al. EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay. J. Exp. Med. 214, 623\u2013637 (2017).","journal-title":"J. Exp. Med."},{"key":"BFjhg201738_CR29","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1016\/j.ajhg.2017.01.013","volume":"100","author":"MM Oud","year":"2017","unstructured":"Oud, M. M ., Tuijnenburg, P ., Hempel, M ., van Vlies, N ., Ren, Z ., Ferdinandusse, S. et al. Mutations in EXTL3 cause neuro-immuno-skeletal dysplasia syndrome. Am. J. Hum. Genet. 100, 281\u2013296 (2017).","journal-title":"Am. J. Hum. Genet."}],"container-title":["Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/jhg201738.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/jhg201738","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/doifinder\/10.1038\/jhg.2017.38","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"https:\/\/www.nature.com\/articles\/jhg201738.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,23]],"date-time":"2024-06-23T05:36:53Z","timestamp":1719121013000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/jhg201738"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,3,23]]},"references-count":29,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2017,8]]}},"alternative-id":["BFjhg201738"],"URL":"https:\/\/doi.org\/10.1038\/jhg.2017.38","relation":{},"ISSN":["1434-5161","1435-232X"],"issn-type":[{"value":"1434-5161","type":"print"},{"value":"1435-232X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,3,23]]},"assertion":[{"value":"5 February 2017","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 February 2017","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 March 2017","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 March 2017","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no conflict of interest.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"This content has been made available to all.","name":"free","label":"Free to read"}]}}