{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T00:08:09Z","timestamp":1791331689890,"version":"4.3.1"},"reference-count":29,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2002,3,4]],"date-time":"2002-03-04T00:00:00Z","timestamp":1015200000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[2002,4]]},"DOI":"10.1038\/ng850","type":"journal-article","created":{"date-parts":[[2003,9,26]],"date-time":"2003-09-26T14:56:16Z","timestamp":1064588176000},"page":"421-425","source":"Crossref","is-referenced-by-count":240,"title":["Tenascin-X deficiency mimics Ehlers-Danlos syndrome in mice through alteration of collagen deposition"],"prefix":"10.1038","volume":"30","author":[{"given":"Jau Ren","family":"Mao","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Glen","family":"Taylor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Willow B.","family":"Dean","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diane R.","family":"Wagner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veena","family":"Afzal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey C.","family":"Lotz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward M.","family":"Rubin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Bristow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2002,3,4]]},"reference":[{"key":"BFng850z_CR1","doi-asserted-by":"publisher","first-page":"265","DOI":"10.1083\/jcb.122.1.265","volume":"122","author":"J Bristow","year":"1993","unstructured":"Bristow, J., Tee, M.K., Gitelman, S.E., Mellon, S.H. & Miller, W.L. Tenascin-X: a novel extracellular matrix protein encoded by the human XB gene overlapping P450c21B. J. Cell Biol. 122, 265\u2013278 (1993).","journal-title":"J. Cell Biol."},{"key":"BFng850z_CR2","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1016\/S0945-053X(96)90122-5","volume":"15","author":"C Lethias","year":"1996","unstructured":"Lethias, C., DesCollonges, Y., Boutillon, M. & Garrone, R. Flexilin: a new extracellular matrix glycoprotein localized on collagen fibrils. Matrix Biol. 15, 11\u201319 (1996).","journal-title":"Matrix Biol."},{"key":"BFng850z_CR3","doi-asserted-by":"publisher","first-page":"483","DOI":"10.1083\/jcb.125.2.483","volume":"125","author":"K Matsumoto","year":"1994","unstructured":"Matsumoto, K., Saga, Y., Ikemura, T., Sakakura, T. & Chiquet-Ehrismann, R. The distribution of tenascin-X is distinct and often reciprocal to that of tenascin-C. J. Cell Biol. 125, 483\u2013493 (1994).","journal-title":"J. Cell Biol."},{"key":"BFng850z_CR4","doi-asserted-by":"publisher","first-page":"104","DOI":"10.1038\/ng0997-104","volume":"17","author":"GH Burch","year":"1997","unstructured":"Burch, G.H. et al. Tenascin-X deficiency is associated with Ehlers\u2013Danlos Syndrome. Nature Genet. 17, 104\u2013108 (1997).","journal-title":"Nature Genet."},{"key":"BFng850z_CR5","doi-asserted-by":"publisher","first-page":"1167","DOI":"10.1056\/NEJMoa002939","volume":"345","author":"J Schalkwijk","year":"2001","unstructured":"Schalkwijk, J. et al. A recessive form of Ehlers\u2013Danlos syndrome caused by tenascin-X deficiency. N. Engl. J. Med. 345, 1167\u20131175 (2001).","journal-title":"N. Engl. J. Med."},{"key":"BFng850z_CR6","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1002\/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.0.CO;2-O","volume":"77","author":"P Beighton","year":"1998","unstructured":"Beighton, P., De Paepe, A., Steinmann, B., Tsipouras, P. & Wenstrup, R.J. Ehlers\u2013Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers\u2013Danlos National Foundation (USA) and Ehlers\u2013Danlos Support Group (UK). Am. J. Med. Genet. 77, 31\u201337 (1998).","journal-title":"Am. J. Med. Genet."},{"key":"BFng850z_CR7","doi-asserted-by":"publisher","first-page":"390","DOI":"10.1086\/301948","volume":"63","author":"N Burrows","year":"1998","unstructured":"Burrows, N. et al. A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers\u2013Danlos syndrome type II in two British families. Am. J. Hum. Genet. 63, 390\u2013398 (1998).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng850z_CR8","first-page":"547","volume":"60","author":"A De Paepe","year":"1997","unstructured":"De Paepe, A., Nuytinck, L., Hausser, I., Anton-Lamprecht, I. & Naeyaert, J.M. Mutations in the COL5A1 gene are causal in the Ehlers\u2013Danlos syndromes I and II. Am. J. Hum. Genet. 60, 547\u2013554 (1997).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng850z_CR9","doi-asserted-by":"crossref","first-page":"11322","DOI":"10.1016\/S0021-9258(17)39183-4","volume":"260","author":"DR Eyre","year":"1985","unstructured":"Eyre, D.R., Shapiro, F.D. & Aldridge, J.F. A heterozygous collagen defect in a variant of the Ehlers\u2013Danlos syndrome type VII. Evidence for a deleted amino-telopeptide domain in the pro-\u03b1 2(I) chain. J. Biol. Chem. 260, 11322\u201311329 (1985).","journal-title":"J. Biol. Chem."},{"key":"BFng850z_CR10","doi-asserted-by":"publisher","first-page":"228","DOI":"10.1038\/ng1192-228","volume":"2","author":"J Hyland","year":"1992","unstructured":"Hyland, J. et al. A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers\u2013Danlos syndrome type VI. Nature Genet. 2, 228\u2013231 (1992).","journal-title":"Nature Genet."},{"key":"BFng850z_CR11","doi-asserted-by":"publisher","first-page":"241","DOI":"10.1111\/1523-1747.ep12286441","volume":"108","author":"LT Smith","year":"1997","unstructured":"Smith, L.T., Schwarze, U., Goldstein, J. & Byers, P.H. Mutations in the COL3A1 gene result in the Ehlers\u2013Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis. J. Invest. Dermatol. 108, 241\u2013247 (1997).","journal-title":"J. Invest. Dermatol."},{"key":"BFng850z_CR12","first-page":"235","volume":"51","author":"LT Smith","year":"1992","unstructured":"Smith, L.T. et al. Human dermatosparaxis: a form of Ehlers\u2013Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen. Am. J. Hum. Genet. 51, 235\u2013244 (1992).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng850z_CR13","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1038\/ng0796-361","volume":"13","author":"HV Toriello","year":"1996","unstructured":"Toriello, H.V. et al. A translocation interrupts the COL5A1 gene in a patient with Ehlers\u2013Danlos syndrome and hypomelanosis of Ito. Nature Genet. 13, 361\u2013365 (1996).","journal-title":"Nature Genet."},{"key":"BFng850z_CR14","doi-asserted-by":"publisher","first-page":"1733","DOI":"10.1093\/hmg\/5.11.1733","volume":"5","author":"RJ Wenstrup","year":"1996","unstructured":"Wenstrup, R.J., Langland, G.T., Willing, M.C., D'Souza, V.N. & Cole, W.G. A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro \u03b1 1(V) chains results in the gravis form of the Ehlers\u2013Danlos syndrome (type I). Hum. Mol. Genet. 5, 1733\u20131736 (1996).","journal-title":"Hum. Mol. Genet."},{"key":"BFng850z_CR15","doi-asserted-by":"publisher","first-page":"1063","DOI":"10.1172\/JCI12881","volume":"107","author":"JR Mao","year":"2001","unstructured":"Mao, J.R. & Bristow, J. The Ehlers-Danlos syndrome: on beyond collagens. J. Clin. Invest. 107, 1063\u20131069 (2001).","journal-title":"J. Clin. Invest."},{"key":"BFng850z_CR16","doi-asserted-by":"publisher","first-page":"6582","DOI":"10.1073\/pnas.86.17.6582","volume":"86","author":"Y Morel","year":"1989","unstructured":"Morel, Y., Bristow, J., Gitelman, S.E. & Miller, W.L. Transcript encoded on the opposite strand of the human steroid 21-hydroxylase\/complement component C4 gene locus. Proc. Natl Acad. Sci. USA 86, 6582\u20136586 (1989).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"BFng850z_CR17","doi-asserted-by":"publisher","first-page":"259","DOI":"10.1007\/978-1-4419-6856-2","volume-title":"Biomechanics: Mechanical Properties of Living Tissues","author":"Y Fung","year":"1990","unstructured":"Fung, Y. Biomechanics: Mechanical Properties of Living Tissues 259\u2013260 (Springer-Verlag, New York, 1990)."},{"issue":"suppl.","key":"BFng850z_CR18","doi-asserted-by":"publisher","first-page":"17S","DOI":"10.1111\/1523-1747.ep12544620","volume":"79","author":"C Daly","year":"1982","unstructured":"Daly, C. Biomechanical properties of dermis. J. Invest. Dermatol. 79 (suppl.), 17S\u201320S (1982).","journal-title":"J. Invest. Dermatol."},{"key":"BFng850z_CR19","first-page":"4029","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"PH Byers","year":"1995","unstructured":"Byers, P.H. in The Metabolic and Molecular Bases of Inherited Disease Vol. 3 (eds Scriver, C.R., Beaudet, A.L., Sly, W.S. & Valle, D.) 4029\u20134077 (McGraw-Hill, New York, 1995)."},{"key":"BFng850z_CR20","first-page":"201","volume":"40","author":"A Vogel","year":"1979","unstructured":"Vogel, A., Holbrook, K.A., Steinmann, B., Gitzelmann, R. & Byers, P.H. Abnormal collagen fibril structure in the gravis form (type I) of Ehlers\u2013Danlos syndrome. Lab. Invest. 40, 201\u2013206 (1979).","journal-title":"Lab. Invest."},{"key":"BFng850z_CR21","doi-asserted-by":"publisher","first-page":"491","DOI":"10.1002\/aja.1002030411","volume":"203","author":"GH Burch","year":"1995","unstructured":"Burch, G.H., Bedolli, M.A., McDonough, S., Rosenthal, S.M. & Bristow, J. Embryonic expression of tenascin-X suggest a role in limb, muscle, and heart development. Develop. Dynam. 203, 491\u2013504 (1995).","journal-title":"Develop. Dynam."},{"key":"BFng850z_CR22","doi-asserted-by":"publisher","first-page":"7145","DOI":"10.1073\/pnas.87.18.7145","volume":"18","author":"J Bonadio","year":"1990","unstructured":"Bonadio, J. et al. Transgenic mouse model of the mild dominant form of osteogenesis imperfecta. Proc. Natl Acad. Sci. USA 18, 7145\u20137149 (1990).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"BFng850z_CR23","doi-asserted-by":"publisher","first-page":"1101","DOI":"10.1046\/j.1365-2443.2001.00482.x","volume":"6","author":"K Matsumoto","year":"2001","unstructured":"Matsumoto, K. et al. Tumour invasion and metastasis are promoted in mice deficient in tenascin-X. Genes Cells 6, 1101\u20131111 (2001).","journal-title":"Genes Cells"},{"key":"BFng850z_CR24","doi-asserted-by":"publisher","first-page":"11869","DOI":"10.1073\/pnas.95.20.11869","volume":"95","author":"C Botas","year":"1998","unstructured":"Botas, C. et al. Altered surfactant homeostasis and alveolar type II cell morphology in mice lacking surfactant protein D. Proc. Natl Acad. Sci. USA 95, 11869\u201311874 (1998).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"BFng850z_CR25","doi-asserted-by":"publisher","first-page":"112","DOI":"10.1038\/jid.1969.116","volume":"53","author":"P Cheng","year":"1969","unstructured":"Cheng, P. An improved method for the determination of hydroxyproline in rat skin. J. Invest. Derm. 53, 112\u2013115 (1969).","journal-title":"J. Invest. Derm."},{"key":"BFng850z_CR26","doi-asserted-by":"publisher","first-page":"441","DOI":"10.1006\/jmcc.1996.0040","volume":"28","author":"W Coats","year":"1996","unstructured":"Coats, W., Cheung, D., Han, B., Currier, J. & Faxon, D. Balloon angioplasty significantly increases collagen content but does not alter collagen subtype I\/III ratios in the atherosclerotic rabbit iliac model. J. Mol. Cell. Cardiol. 28, 441\u2013446 (1996).","journal-title":"J. Mol. Cell. Cardiol."},{"key":"BFng850z_CR27","doi-asserted-by":"publisher","first-page":"699","DOI":"10.1042\/bj2400699","volume":"240","author":"J Bateman","year":"1986","unstructured":"Bateman, J., Chan, D., Mascara, T., Rogers, J. & Cole, W. Collagen defects in lethal perinatal osteogenesis imperfecta. Biochem. J. 240, 699\u2013708 (1986).","journal-title":"Biochem. J."},{"key":"BFng850z_CR28","doi-asserted-by":"publisher","first-page":"3838","DOI":"10.1073\/pnas.79.12.3838","volume":"79","author":"G Barsh","year":"1982","unstructured":"Barsh, G., David, K. & Byers, P. Type I osteogenesis imperfecta: a nonfunctional allele for pro\u03b11(I) chains of type I procollagen. Proc. Natl Acad. Sci. USA 79, 3838 (1982).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"BFng850z_CR29","doi-asserted-by":"publisher","first-page":"1821","DOI":"10.1101\/gad.6.10.1821","volume":"6","author":"Y Saga","year":"1992","unstructured":"Saga, Y., Yagi, T., Ikawa, Y., Sakakura, T. & Aizawa, S. Mice develop normally without tenascin. Genes Develop. 6, 1821\u20131831 (1992).","journal-title":"Genes Develop."}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng850z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng850z","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng850z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T18:16:47Z","timestamp":1684433807000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng850z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,3,4]]},"references-count":29,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2002,4]]}},"alternative-id":["BFng850z"],"URL":"https:\/\/doi.org\/10.1038\/ng850","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,3,4]]}}}