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Because studies of gene and protein function of other tenascins had been poorly predictive of essential functions in vivo, we used a genetic approach that critically relied on an understanding of the genomic locus to uncover an association between inactivating tenascin\u2010X mutations and novel recessive and dominant forms of Ehlers\u2013Danlos syndrome (EDS). Tenascin\u2010X provides the first example of a gene outside of the fibrillar collagens and their processing enzymes that causes EDS. Tenascin\u2010X null mice recapitulate the skin findings of the human disease, confirming a causative role for this gene in EDS. Further evaluation of these mice showed that tenascin\u2010X is an important regulator of collagen deposition in vivo, suggesting a novel mechanism of disease in this form of EDS. Further studies suggest that tenascin\u2010X may do this through both direct and indirect interactions with the collagen fibril. Recent studies show that TNX effects on matrix extend beyond the collagen to the elastogenic pathway and matrix remodeling enzymes. Tenascin\u2010X serves as a compelling example of how human \u201cexperiments of nature\u201d can guide us to an understanding of genes whose function may not be evident from their sequence or in vitro studies of their encoded proteins. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.c.30071","type":"journal-article","created":{"date-parts":[[2005,11,16]],"date-time":"2005-11-16T18:54:52Z","timestamp":1132167292000},"page":"24-30","source":"Crossref","is-referenced-by-count":109,"title":["Tenascin\u2010X, collagen, elastin, and the Ehlers\u2013Danlos syndrome"],"prefix":"10.1002","volume":"139C","author":[{"given":"James","family":"Bristow","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William","family":"Carey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Egging","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joost","family":"Schalkwijk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,11,8]]},"reference":[{"key":"e_1_2_10_2_1","first-page":"233","article-title":"Substrate specificity of Xenopus matrix metalloproteinase stromelysin\u20103","volume":"14","author":"Amano T","year":"2004","journal-title":"Int J Mol Med"},{"key":"e_1_2_10_3_1","doi-asserted-by":"crossref","first-page":"12919","DOI":"10.1016\/S0021-9258(18)31473-X","article-title":"Abundant 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