{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T04:25:50Z","timestamp":1790483150646,"version":"4.1.0"},"reference-count":41,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2014,9,4]],"date-time":"2014-09-04T00:00:00Z","timestamp":1409788800000},"content-version":"vor","delay-in-days":3,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2014,9]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Dermatan sulfate (DS) is a highly sulfated polysaccharide with a variety of biological functions in extracellular matrix organization and processes such as tumorigenesis and wound healing. A distinct feature of DS is the presence of iduronic acid, produced by the two enzymes, DS\u2010epimerase 1 and 2, which are encoded by <jats:italic>Dse<\/jats:italic> and <jats:italic>Dsel<\/jats:italic>, respectively.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We have previously shown that <jats:italic>Dse<\/jats:italic> knockout (KO) mice in a mixed C57BL\/6\u2013129\/SvJ background have an altered collagen matrix structure in skin. In the current work we studied <jats:italic>Dse<\/jats:italic> KO mice in a pure NFR genetic background.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p><jats:italic>Dse<\/jats:italic> KO embryos and newborns had kinked tails and histological staining revealed significantly thicker epidermal layers in <jats:italic>Dse<\/jats:italic> KO mice when compared with heterozygote (Het) or wild\u2010type (WT) littermates. Immunochemical analysis of the epidermal layers in newborn pups showed increased expression of keratin 5 in the basal layer and keratin 1 in the spinous layer. In addition, we observed an abdominal wall defect with herniated intestines in 16% of the <jats:italic>Dse<\/jats:italic> KO embryos. Other, less frequent, developmental defects were exencephaly and spina bifida.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We conclude that the combination of defective collagen structure in the dermis and imbalanced keratinocyte maturation could be responsible for the observed developmental defects in <jats:italic>Dse<\/jats:italic> KO mice. In addition, we propose that <jats:italic>Dse<\/jats:italic> KO mice could be used as a model in pathogenetic studies of human fetal abdominal wall defects. Birth Defects Research (Part A) 100:712\u2013720, 2014. \u00a9 2014 The Authors Birth Defects Research Part A: Clinical and Molecular Teratology Published by Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdra.23300","type":"journal-article","created":{"date-parts":[[2014,9,4]],"date-time":"2014-09-04T19:32:35Z","timestamp":1409859155000},"page":"712-720","source":"Crossref","is-referenced-by-count":18,"title":["Dermatan sulfate epimerase 1 deficient mice as a model for human abdominal wall defects"],"prefix":"10.1002","volume":"100","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8165-6041","authenticated-orcid":false,"given":"Renata","family":"Gustafsson","sequence":"first","affiliation":[{"name":"Department of Experimental Medical Science BMC D10, Lund University Lund Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xanthi","family":"Stachtea","sequence":"additional","affiliation":[{"name":"Department of Experimental Medical Science BMC D12, Lund University Lund Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Maccarana","sequence":"additional","affiliation":[{"name":"Department of Experimental Medical Science BMC D12, Lund University Lund Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Grottling","sequence":"additional","affiliation":[{"name":"Section for Child Surgery Lund University Lund Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik","family":"Eklund","sequence":"additional","affiliation":[{"name":"Clinical Sciences, Section for Pediatrics BMC D12; Lund University Lund Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anders","family":"Malmstr\u00f6m","sequence":"additional","affiliation":[{"name":"Department of Experimental Medical Science BMC D12, Lund University Lund Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c5ke","family":"Oldberg","sequence":"additional","affiliation":[{"name":"Department of Experimental Medical Science BMC B12. 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