{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T02:06:52Z","timestamp":1790820412178,"version":"4.1.0"},"reference-count":46,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2009,12,1]],"date-time":"2009-12-01T00:00:00Z","timestamp":1259625600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":1326,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2009,12]]},"DOI":"10.1016\/j.ajhg.2009.11.010","type":"journal-article","created":{"date-parts":[[2009,12,11]],"date-time":"2009-12-11T15:11:32Z","timestamp":1260544292000},"page":"873-882","source":"Crossref","is-referenced-by-count":130,"title":["Loss of Dermatan-4-Sulfotransferase 1 Function Results in Adducted Thumb-Clubfoot Syndrome"],"prefix":"10.1016","volume":"85","author":[{"given":"Munis","family":"D\u00fcndar","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"M\u00fcller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qi","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Pan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beat","family":"Steinmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Vodopiutz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Gruber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tohru","family":"Sonoda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birgit","family":"Krabichler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerd","family":"Utermann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacques U.","family":"Baenziger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lijuan","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas R.","family":"Janecke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2009.11.010_bib1","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1016\/S0959-440X(00)00125-1","article-title":"Recent advances in the\u00a0study of the biosynthesis and functions of sulfated glycosaminoglycans","volume":"10","author":"Sugahara","year":"2000","journal-title":"Curr. Opin. Struct. Biol."},{"key":"10.1016\/j.ajhg.2009.11.010_bib2","doi-asserted-by":"crossref","first-page":"9788","DOI":"10.1074\/jbc.M809339200","article-title":"Two dermatan sulfate epimerases form iduronic acid domains in dermatan sulfate","volume":"284","author":"Pacheco","year":"2009","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ajhg.2009.11.010_bib3","doi-asserted-by":"crossref","first-page":"36344","DOI":"10.1074\/jbc.M105848200","article-title":"Molecular cloning and characterization of a dermatan-specific N-acetylgalactosamine 4-O-sulfotransferase","volume":"276","author":"Evers","year":"2001","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ajhg.2009.11.010_bib4","doi-asserted-by":"crossref","first-page":"36115","DOI":"10.1074\/jbc.M306044200","article-title":"Specificities of three distinct human chondroitin\/dermatan N-acetylgalactosamine 4-O-sulfotransferases demonstrated using partially desulfated dermatan sulfate as an acceptor: Implication of differential roles in dermatan sulfate biosynthesis","volume":"278","author":"Mikami","year":"2003","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ajhg.2009.11.010_bib5","doi-asserted-by":"crossref","first-page":"20188","DOI":"10.1074\/jbc.M002443200","article-title":"Molecular cloning and expression of two distinct human chondroitin 4-O-sulfotransferases that belong to the HNK-1 sulfotransferase gene family","volume":"275","author":"Hiraoka","year":"2000","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ajhg.2009.11.010_bib6","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1016\/j.sbi.2003.08.002","article-title":"Sulfotransferases in glycosaminoglycan biosynthesis","volume":"13","author":"Kusche-Gullberg","year":"2003","journal-title":"Curr. Opin. Struct. Biol."},{"key":"10.1016\/j.ajhg.2009.11.010_bib7","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1093\/glycob\/4.5.685","article-title":"Patterns of uronosyl epimerization and 4-\/6-O-sulphation in chondroitin\/dermatan sulphate from decorin and biglycan of various bovine tissues","volume":"4","author":"Cheng","year":"1994","journal-title":"Glycobiology"},{"key":"10.1016\/j.ajhg.2009.11.010_bib8","doi-asserted-by":"crossref","first-page":"1030","DOI":"10.1038\/nature05817","article-title":"Heparan sulphate proteoglycans fine-tune mammalian physiology","volume":"446","author":"Bishop","year":"2007","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2009.11.010_bib9","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1016\/S0092-8674(03)00715-3","article-title":"Essential role of glycosaminoglycans in Fgf signaling during mouse gastrulation","volume":"114","author":"Garcia-Garcia","year":"2003","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2009.11.010_bib10","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1038\/nrm1681","article-title":"Heparan sulphate proteoglycans: The sweet side of development","volume":"6","author":"Hacker","year":"2005","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.ajhg.2009.11.010_bib11","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1146\/annurev.cellbio.22.010605.093433","article-title":"The molecular diversity of glycosaminoglycans shapes animal development","volume":"22","author":"Bulow","year":"2006","journal-title":"Annu. Rev. Cell Dev. Biol."},{"key":"10.1016\/j.ajhg.2009.11.010_bib12","doi-asserted-by":"crossref","first-page":"5300","DOI":"10.1074\/jbc.M410412200","article-title":"Structural and sequence motifs in dermatan sulfate for promoting fibroblast growth factor-2 (FGF-2) and FGF-7 activity","volume":"280","author":"Taylor","year":"2005","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ajhg.2009.11.010_bib13","doi-asserted-by":"crossref","first-page":"2956","DOI":"10.1074\/jbc.M609296200","article-title":"Neuritogenic activity of chondroitin\/dermatan sulfate hybrid chains of embryonic pig brain and their mimicry from shark liver. Involvement of the pleiotrophin and hepatocyte growth factor signaling pathways","volume":"282","author":"Li","year":"2007","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ajhg.2009.11.010_bib14","doi-asserted-by":"crossref","first-page":"6304","DOI":"10.1016\/S0021-9258(18)88971-2","article-title":"Isolation of dermatan sulfate proteoglycans from mature bovine articular cartilages","volume":"260","author":"Rosenberg","year":"1985","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ajhg.2009.11.010_bib15","doi-asserted-by":"crossref","first-page":"117R","DOI":"10.1093\/glycob\/cwf066","article-title":"Dermatan sulfate: New functions from an old glycosaminoglycan","volume":"12","author":"Trowbridge","year":"2002","journal-title":"Glycobiology"},{"key":"10.1016\/j.ajhg.2009.11.010_bib16","doi-asserted-by":"crossref","first-page":"612","DOI":"10.1016\/j.sbi.2003.09.011","article-title":"Recent advances in the structural biology of chondroitin sulfate and dermatan sulfate","volume":"13","author":"Sugahara","year":"2003","journal-title":"Curr. Opin. Struct. Biol."},{"key":"10.1016\/j.ajhg.2009.11.010_bib17","doi-asserted-by":"crossref","first-page":"18942","DOI":"10.1074\/jbc.M510870200","article-title":"Chondroitin sulfate\/dermatan sulfate hybrid chains in the development of cerebellum. Spatiotemporal regulation of the expression of critical disulfated disaccharides by specific sulfotransferases","volume":"281","author":"Mitsunaga","year":"2006","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ajhg.2009.11.010_bib18","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1111\/j.1399-0004.1997.tb02417.x","article-title":"An autosomal recessive adducted thumb-club foot\u00a0syndrome observed in Turkish cousins","volume":"51","author":"Dundar","year":"1997","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ajhg.2009.11.010_bib19","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1097\/00019605-200110000-00012","article-title":"A case with adducted thumb and club foot syndrome","volume":"10","author":"Dundar","year":"2001","journal-title":"Clin. Dysmorphol."},{"key":"10.1016\/j.ajhg.2009.11.010_bib20","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1136\/jmg.38.4.265","article-title":"Adducted thumb-club foot syndrome in sibs of a consanguineous Austrian family","volume":"38","author":"Janecke","year":"2001","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ajhg.2009.11.010_bib21","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1002\/(SICI)1096-8628(20000410)91:4<280::AID-AJMG8>3.0.CO;2-B","article-title":"Two brothers with distal arthrogryposis, peculiar facial appearance, cleft palate, short stature, hydronephrosis, retentio testis, and normal intelligence: A new type of distal arthrogryposis?","volume":"91","author":"Sonoda","year":"2000","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2009.11.010_bib22","doi-asserted-by":"crossref","first-page":"1015","DOI":"10.1038\/ng1005-1015","article-title":"Allegro version 2","volume":"37","author":"Gudbjartsson","year":"2005","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2009.11.010_bib23","doi-asserted-by":"crossref","first-page":"7850","DOI":"10.1073\/pnas.82.23.7850","article-title":"Structural requirements for sulfation of asparagine-linked oligosaccharides of lutropin","volume":"82","author":"Green","year":"1985","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2009.11.010_bib24","doi-asserted-by":"crossref","first-page":"33674","DOI":"10.1074\/jbc.M804288200","article-title":"Evolutionary differences in glycosaminoglycan fine structure detected by quantitative glycan reductive isotope labeling","volume":"283","author":"Lawrence","year":"2008","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ajhg.2009.11.010_bib25","doi-asserted-by":"crossref","first-page":"2354","DOI":"10.1074\/jbc.M806458200","article-title":"High affinity glycosaminoglycan and autoantigen interaction explains joint specificity in a mouse model of rheumatoid arthritis","volume":"284","author":"Studelska","year":"2009","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ajhg.2009.11.010_bib26","doi-asserted-by":"crossref","first-page":"634","DOI":"10.1016\/S0955-0674(00)00143-5","article-title":"The functions of thrombospondin-1 and-2","volume":"12","author":"Lawler","year":"2000","journal-title":"Curr. Opin. Cell Biol."},{"key":"10.1016\/j.ajhg.2009.11.010_bib27","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1136\/jmg.2002.002311","article-title":"Collagen VI related muscle disorders","volume":"42","author":"Lampe","year":"2005","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ajhg.2009.11.010_bib28","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1038\/ng1511","article-title":"A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2","volume":"37","author":"Loeys","year":"2005","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2009.11.010_bib29","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1038\/sj.ejhg.5201361","article-title":"Defective protein glycosylation in patients with cutis laxa syndrome","volume":"13","author":"Morava","year":"2005","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2009.11.010_bib30","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1038\/ng.2007.45","article-title":"Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2","volume":"40","author":"Kornak","year":"2008","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2009.11.010_bib31","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/S0945-053X(98)90121-4","article-title":"Leucine-rich repeat glycoproteins of the extracellular matrix","volume":"17","author":"Hocking","year":"1998","journal-title":"Matrix Biol."},{"key":"10.1016\/j.ajhg.2009.11.010_bib32","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1038\/2477","article-title":"Targeted disruption of the biglycan gene leads to an osteoporosis-like phenotype in mice","volume":"20","author":"Xu","year":"1998","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2009.11.010_bib33","doi-asserted-by":"crossref","first-page":"1342","DOI":"10.1073\/pnas.87.4.1342","article-title":"A\u00a0genetic defect in the biosynthesis of dermatan sulfate proteoglycan: Galactosyltransferase I deficiency in fibroblasts from a patient with a progeroid syndrome","volume":"87","author":"Quentin","year":"1990","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2009.11.010_bib34","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1083\/jcb.136.3.729","article-title":"Targeted disruption of decorin leads to abnormal collagen fibril morphology and skin fragility","volume":"136","author":"Danielson","year":"1997","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.ajhg.2009.11.010_bib35","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1016\/j.devcel.2007.07.001","article-title":"The secreted serine protease xHtrA1 stimulates long-range FGF signaling in the early Xenopus embryo","volume":"13","author":"Hou","year":"2007","journal-title":"Dev. Cell"},{"key":"10.1016\/j.ajhg.2009.11.010_bib36","doi-asserted-by":"crossref","first-page":"1277","DOI":"10.1093\/glycob\/cwj027","article-title":"Regulation of the chondroitin\/dermatan fine structure by transforming growth factor-beta1 through effects on polymer-modifying enzymes","volume":"15","author":"Tiedemann","year":"2005","journal-title":"Glycobiology"},{"key":"10.1016\/j.ajhg.2009.11.010_bib37","doi-asserted-by":"crossref","first-page":"3989","DOI":"10.1242\/dev.01948","article-title":"Maintenance of chondroitin sulfation balance by chondroitin-4-sulfotransferase 1 is required for chondrocyte development and growth factor signaling during cartilage morphogenesis","volume":"132","author":"Kluppel","year":"2005","journal-title":"Development"},{"key":"10.1016\/j.ajhg.2009.11.010_bib38","doi-asserted-by":"crossref","first-page":"6281","DOI":"10.1016\/j.febslet.2006.10.037","article-title":"A model of tenascin-X integration within the collagenous network","volume":"580","author":"Lethias","year":"2006","journal-title":"FEBS Lett."},{"key":"10.1016\/j.ajhg.2009.11.010_bib39","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1016\/S0014-5793(01)02361-4","article-title":"Binding of tenascin-X to decorin","volume":"495","author":"Elefteriou","year":"2001","journal-title":"FEBS Lett."},{"key":"10.1016\/j.ajhg.2009.11.010_bib40","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1038\/ng0997-104","article-title":"Tenascin-X deficiency is associated with Ehlers-Danlos syndrome","volume":"17","author":"Burch","year":"1997","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2009.11.010_bib41","doi-asserted-by":"crossref","first-page":"3965","DOI":"10.1182\/blood-2004-02-0598","article-title":"Antithrombotic activity of dermatan sulfate in heparin cofactor II-deficient mice","volume":"104","author":"Vicente","year":"2004","journal-title":"Blood"},{"key":"10.1016\/j.ajhg.2009.11.010_bib42","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1016\/j.thromres.2006.12.014","article-title":"Insight into the profibrinolytic activity of dermatan sulfate: Effects on the activation of plasminogen mediated by tissue and urinary plasminogen activators","volume":"120","author":"Castanon","year":"2007","journal-title":"Thromb. Res."},{"key":"10.1016\/j.ajhg.2009.11.010_bib43","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1146\/annurev.biochem.73.011303.074043","article-title":"Role of glycosylation in development","volume":"73","author":"Haltiwanger","year":"2004","journal-title":"Annu. Rev. Biochem."},{"key":"10.1016\/j.ajhg.2009.11.010_bib44","doi-asserted-by":"crossref","first-page":"10155","DOI":"10.1073\/pnas.0400334101","article-title":"Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement","volume":"101","author":"Thiele","year":"2004","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2009.11.010_bib45","doi-asserted-by":"crossref","first-page":"1368","DOI":"10.1016\/j.ajhg.2008.05.006","article-title":"Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis","volume":"82","author":"Hermanns","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2009.11.010_bib46","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1038\/79987","article-title":"Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene","volume":"26","author":"Akama","year":"2000","journal-title":"Nat. Genet."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929709005254?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929709005254?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,10,15]],"date-time":"2021-10-15T23:17:31Z","timestamp":1634339851000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929709005254"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,12]]},"references-count":46,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2009,12]]}},"alternative-id":["S0002929709005254"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2009.11.010","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2009,12]]}}}