{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,8]],"date-time":"2026-11-08T11:39:14Z","timestamp":1794137954706,"version":"4.8.0"},"reference-count":44,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2013,6,1]],"date-time":"2013-06-01T00:00:00Z","timestamp":1370044800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,12,6]],"date-time":"2013-12-06T00:00:00Z","timestamp":1386288000000},"content-version":"vor","delay-in-days":188,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["ajhg.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2013,6]]},"DOI":"10.1016\/j.ajhg.2013.04.016","type":"journal-article","created":{"date-parts":[[2013,5,9]],"date-time":"2013-05-09T15:21:25Z","timestamp":1368112885000},"page":"935-945","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":137,"title":["Defective Initiation of Glycosaminoglycan Synthesis due to B3GALT6 Mutations Causes a Pleiotropic Ehlers-Danlos-Syndrome-like Connective Tissue Disorder"],"prefix":"10.1016","volume":"92","author":[{"given":"Fransiska","family":"Malfait","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ariana","family":"Kariminejad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tim","family":"Van\u00a0Damme","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Gauche","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Delfien","family":"Syx","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Faten","family":"Merhi-Soussi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandrine","family":"Gulberti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sofie","family":"Symoens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suzanne","family":"Vanhauwaert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andy","family":"Willaert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bita","family":"Bozorgmehr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamad\u00a0Hasan","family":"Kariminejad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nazanin","family":"Ebrahimiadib","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid","family":"Hausser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ann","family":"Huysseune","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"Fournel-Gigleux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"De\u00a0Paepe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2013.04.016_bib1","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1369\/0022155412464638","article-title":"An introduction to proteoglycans and their localization","volume":"60","author":"Couchman","year":"2012","journal-title":"J.\u00a0Histochem. Cytochem."},{"key":"10.1016\/j.ajhg.2013.04.016_bib2","doi-asserted-by":"crossref","first-page":"1356","DOI":"10.1042\/BST0381356","article-title":"Heparan sulfate glycomics: towards systems biology strategies","volume":"38","author":"Turnbull","year":"2010","journal-title":"Biochem. Soc. Trans."},{"key":"10.1016\/j.ajhg.2013.04.016_bib3","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.2013.04.016_bib4","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1083\/jcb.200604035","article-title":"Interactions between heparan sulfate and proteins: the concept of specificity","volume":"174","author":"Kreuger","year":"2006","journal-title":"J.\u00a0Cell Biol."},{"key":"10.1016\/j.ajhg.2013.04.016_bib5","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1242\/jcs.113.2.193","article-title":"Synthesis and sorting of proteoglycans","volume":"113","author":"Prydz","year":"2000","journal-title":"J.\u00a0Cell Sci."},{"key":"10.1016\/j.ajhg.2013.04.016_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.2013.04.016_bib7","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1096\/fj.09-136291","article-title":"Epigenetics: methylation-associated repression of heparan sulfate 3-O-sulfotransferase gene expression contributes to the invasive phenotype of H-EMC-SS chondrosarcoma cells","volume":"24","author":"Bui","year":"2010","journal-title":"FASEB J."},{"key":"10.1016\/j.ajhg.2013.04.016_bib8","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1006\/jmbi.2000.4261","article-title":"Molecular cloning and expression of human UDP-d-Xylose:proteoglycan core protein beta-d-xylosyltransferase and its first isoform XT-II","volume":"304","author":"G\u00f6tting","year":"2000","journal-title":"J.\u00a0Mol. Biol."},{"key":"10.1016\/j.ajhg.2013.04.016_bib9","doi-asserted-by":"crossref","first-page":"22915","DOI":"10.1074\/jbc.274.33.22915","article-title":"Human homolog of Caenorhabditis elegans sqv-3 gene is galactosyltransferase I involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans","volume":"274","author":"Okajima","year":"1999","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2013.04.016_bib10","doi-asserted-by":"crossref","first-page":"26165","DOI":"10.1074\/jbc.274.37.26165","article-title":"Cloning and expression of a proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I. A seventh member of the human beta4-galactosyltransferase gene family","volume":"274","author":"Almeida","year":"1999","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2013.04.016_bib11","doi-asserted-by":"crossref","first-page":"48189","DOI":"10.1074\/jbc.M107339200","article-title":"Biosynthesis of the linkage region of glycosaminoglycans: cloning and activity of galactosyltransferase II, the sixth member of the beta 1,3-galactosyltransferase family (beta 3GalT6)","volume":"276","author":"Bai","year":"2001","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2013.04.016_bib12","doi-asserted-by":"crossref","first-page":"6615","DOI":"10.1074\/jbc.273.12.6615","article-title":"Molecular cloning and expression of glucuronyltransferase I involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans","volume":"273","author":"Kitagawa","year":"1998","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2013.04.016_bib13","doi-asserted-by":"crossref","first-page":"1342","DOI":"10.1073\/pnas.87.4.1342","article-title":"A genetic 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.2013.04.016_bib14","doi-asserted-by":"crossref","first-page":"3962","DOI":"10.1016\/j.febslet.2010.08.001","article-title":"Molecular characterization of \u03b21,4-galactosyltransferase 7 genetic mutations linked to the progeroid form of Ehlers-Danlos syndrome (EDS)","volume":"584","author":"Bui","year":"2010","journal-title":"FEBS Lett."},{"key":"10.1016\/j.ajhg.2013.04.016_bib15","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/j.ajhg.2011.05.021","article-title":"Faulty initiation of proteoglycan synthesis causes cardiac and joint defects","volume":"89","author":"Baasanjav","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2013.04.016_bib16","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.2013.04.016_bib17","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1016\/j.ajhg.2010.10.003","article-title":"Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling","volume":"87","author":"Li","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2013.04.016_bib18","doi-asserted-by":"crossref","first-page":"966","DOI":"10.1002\/humu.21300","article-title":"Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome","volume":"31","author":"Miyake","year":"2010","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2013.04.016_bib19","doi-asserted-by":"crossref","first-page":"1233","DOI":"10.1002\/humu.21355","article-title":"Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene","volume":"31","author":"Malfait","year":"2010","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2013.04.016_bib20","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1016\/j.ajhg.2009.11.010","article-title":"Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome","volume":"85","author":"D\u00fcndar","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2013.04.016_bib21","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1172\/JCI13737","article-title":"The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins","volume":"108","author":"Duncan","year":"2001","journal-title":"J.\u00a0Clin. Invest."},{"key":"10.1016\/j.ajhg.2013.04.016_bib22","doi-asserted-by":"crossref","first-page":"W593","DOI":"10.1093\/nar\/gkp369","article-title":"HomozygosityMapper\u2013an interactive approach to homozygosity mapping","volume":"37","author":"Seelow","year":"2009","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2013.04.016_bib23","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1086\/519795","article-title":"PLINK: a tool set for whole-genome association and population-based linkage analyses","volume":"81","author":"Purcell","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2013.04.016_bib24","doi-asserted-by":"crossref","first-page":"37342","DOI":"10.1074\/jbc.M110.151951","article-title":"Identification of key functional residues in the active site of human beta1,4-galactosyltransferase 7: a major enzyme in the glycosaminoglycan synthesis pathway","volume":"285","author":"Talhaoui","year":"2010","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2013.04.016_bib25","doi-asserted-by":"crossref","first-page":"20516","DOI":"10.1074\/jbc.M502065200","article-title":"Novel heparan sulfate structures revealed by monoclonal antibodies","volume":"280","author":"van den Born","year":"2005","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2013.04.016_bib26","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1007\/s003350010241","article-title":"Identification, expression analysis, and mapping of B3galt6, a putative galactosyl transferase gene with similarity to Drosophila brainiac","volume":"12","author":"Cole","year":"2001","journal-title":"Mamm. Genome"},{"key":"10.1016\/j.ajhg.2013.04.016_bib27","doi-asserted-by":"crossref","first-page":"6076","DOI":"10.1074\/jbc.M709189200","article-title":"Functional analysis of proteoglycan galactosyltransferase II RNA interference mutant flies","volume":"283","author":"Ueyama","year":"2008","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2013.04.016_bib28","doi-asserted-by":"crossref","first-page":"11735","DOI":"10.1074\/jbc.C200518200","article-title":"The Caenorhabditis elegans genes sqv-2 and sqv-6, which are required for vulval morphogenesis, encode glycosaminoglycan galactosyltransferase II and xylosyltransferase","volume":"278","author":"Hwang","year":"2003","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2013.04.016_bib29","doi-asserted-by":"crossref","first-page":"1228","DOI":"10.1007\/s11064-010-0324-y","article-title":"Functions of chondroitin sulfate and heparan sulfate in the developing brain","volume":"36","author":"Maeda","year":"2011","journal-title":"Neurochem. Res."},{"key":"10.1016\/j.ajhg.2013.04.016_bib30","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.\u00a0Cell Biol."},{"key":"10.1016\/j.ajhg.2013.04.016_bib31","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1038\/ng850","article-title":"Tenascin-X deficiency mimics Ehlers-Danlos syndrome in mice through alteration of collagen deposition","volume":"30","author":"Mao","year":"2002","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2013.04.016_bib32","doi-asserted-by":"crossref","first-page":"1167","DOI":"10.1056\/NEJMoa002939","article-title":"A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency","volume":"345","author":"Schalkwijk","year":"2001","journal-title":"N.\u00a0Engl. J. Med."},{"key":"10.1016\/j.ajhg.2013.04.016_bib33","doi-asserted-by":"crossref","first-page":"2215","DOI":"10.1002\/ajmg.a.31899","article-title":"Ehlers-Danlos syndrome due to tenascin-X deficiency: muscle weakness and contractures support overlap with collagen VI myopathies","volume":"143A","author":"Voermans","year":"2007","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.ajhg.2013.04.016_bib34","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.\u00a0Med. Genet."},{"key":"10.1016\/j.ajhg.2013.04.016_bib35","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1111\/j.1432-1033.1994.tb18727.x","article-title":"Recombinant expression and structural and binding properties of alpha 1(VI) and alpha 2(VI) chains of human collagen type VI","volume":"221","author":"Tillet","year":"1994","journal-title":"Eur. J. Biochem."},{"key":"10.1016\/j.ajhg.2013.04.016_bib36","doi-asserted-by":"crossref","first-page":"5250","DOI":"10.1016\/S0021-9258(18)42759-7","article-title":"Binding of the proteoglycan decorin to collagen type VI","volume":"267","author":"Bidanset","year":"1992","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2013.04.016_bib37","doi-asserted-by":"crossref","first-page":"1245","DOI":"10.1021\/bi00457a021","article-title":"Structural and functional features of the alpha 3 chain indicate a bridging role for chicken collagen VI in connective tissues","volume":"29","author":"Bonaldo","year":"1990","journal-title":"Biochemistry"},{"key":"10.1016\/j.ajhg.2013.04.016_bib38","doi-asserted-by":"crossref","first-page":"18947","DOI":"10.1074\/jbc.M100625200","article-title":"Biglycan and decorin bind close to the n-terminal region of the collagen VI triple helix","volume":"276","author":"Wiberg","year":"2001","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2013.04.016_bib39","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1042\/BJ20101061","article-title":"Identification of binding partners interacting with the \u03b11-N-propeptide of type V collagen","volume":"433","author":"Symoens","year":"2011","journal-title":"Biochem. J."},{"key":"10.1016\/j.ajhg.2013.04.016_bib40","doi-asserted-by":"crossref","first-page":"4517","DOI":"10.1242\/jcs.00128","article-title":"Defects in keratinocyte activation during wound healing in the syndecan-1-deficient mouse","volume":"115","author":"Stepp","year":"2002","journal-title":"J.\u00a0Cell Sci."},{"key":"10.1016\/j.ajhg.2013.04.016_bib41","doi-asserted-by":"crossref","first-page":"41928","DOI":"10.1074\/jbc.M404506200","article-title":"Inhibition by the soluble syndecan-1 ectodomains delays wound repair in mice overexpressing syndecan-1","volume":"279","author":"Elenius","year":"2004","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2013.04.016_bib42","doi-asserted-by":"crossref","first-page":"4699","DOI":"10.1158\/0008-5472.CAN-04-0810","article-title":"Impaired angiogenesis, delayed wound healing and retarded tumor growth in perlecan heparan sulfate-deficient mice","volume":"64","author":"Zhou","year":"2004","journal-title":"Cancer Res."},{"key":"10.1016\/j.ajhg.2013.04.016_bib43","first-page":"772","article-title":"Spondylo-epimetaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis. A potentially lethal dwarfing disorder","volume":"64","author":"Beighton","year":"1983","journal-title":"S.\u00a0Afr. Med. J."},{"key":"10.1016\/j.ajhg.2013.04.016_bib44","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1007\/BF00580591","article-title":"Spondylo-epi-metaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis","volume":"5","author":"Beighton","year":"1980","journal-title":"Skeletal Radiol."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929713001778?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929713001778?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,2,16]],"date-time":"2022-02-16T16:37:44Z","timestamp":1645029464000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929713001778"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,6]]},"references-count":44,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2013,6]]}},"alternative-id":["S0002929713001778"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2013.04.016","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2013,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Defective Initiation of Glycosaminoglycan Synthesis due to B3GALT6 Mutations Causes a Pleiotropic Ehlers-Danlos-Syndrome-like Connective Tissue Disorder","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2013.04.016","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2013.04.003","name":"associatedlink","label":"CrossRef DOI link to the associated document"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}