{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T04:26:19Z","timestamp":1790483179783,"version":"4.1.0"},"reference-count":84,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2017,3,27]],"date-time":"2017-03-27T00:00:00Z","timestamp":1490572800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"a Grant-in-Aid for Young Scientists (B)","award":["25860037"],"award-info":[{"award-number":["25860037"]}]},{"name":"a Grant-in-Aid for Scientific Research (C)","award":["16K08251"],"award-info":[{"award-number":["16K08251"]}]},{"name":"a Grant-in-Aid for Challenging Scientific Research"},{"DOI":"10.13039\/100008731","name":"Nakatomi Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008731","id-type":"DOI","asserted-by":"publisher"}]},{"name":"the Practical Research Project for Rare\/Intratable Diseases #105","award":["16ek0109105h0002"],"award-info":[{"award-number":["16ek0109105h0002"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pharmaceuticals"],"abstract":"<jats:p>The indispensable roles of dermatan sulfate-proteoglycans (DS-PGs) have been demonstrated in various biological events including construction of the extracellular matrix and cell signaling through interactions with collagen and transforming growth factor-\u03b2, respectively. Defects in the core proteins of DS-PGs such as decorin and biglycan cause congenital stromal dystrophy of the cornea, spondyloepimetaphyseal dysplasia, and Meester-Loeys syndrome. Furthermore, mutations in human genes encoding the glycosyltransferases, epimerases, and sulfotransferases responsible for the biosynthesis of DS chains cause connective tissue disorders including Ehlers-Danlos syndrome and spondyloepimetaphyseal dysplasia with joint laxity characterized by skin hyperextensibility, joint hypermobility, and tissue fragility, and by severe skeletal disorders such as kyphoscoliosis, short trunk, dislocation, and joint laxity. Glycobiological approaches revealed that mutations in DS-biosynthetic enzymes cause reductions in enzymatic activities and in the amount of synthesized DS and also disrupt the formation of collagen bundles. This review focused on the growing number of glycobiological studies on recently reported genetic diseases caused by defects in the biosynthesis of DS and DS-PGs.<\/jats:p>","DOI":"10.3390\/ph10020034","type":"journal-article","created":{"date-parts":[[2017,3,27]],"date-time":"2017-03-27T10:49:10Z","timestamp":1490611750000},"page":"34","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":36,"title":["Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders"],"prefix":"10.3390","volume":"10","author":[{"given":"Shuji","family":"Mizumoto","sequence":"first","affiliation":[{"name":"Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, 150 Yagotoyama, Tempaku-ku, Nagoya 468-8503, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomoki","family":"Kosho","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics, Shinshu University Hospital, 3-1-1 Asahi, Matsumoto, Nagano 390-8621, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuhei","family":"Yamada","sequence":"additional","affiliation":[{"name":"Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, 150 Yagotoyama, Tempaku-ku, Nagoya 468-8503, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuyuki","family":"Sugahara","sequence":"additional","affiliation":[{"name":"Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, 150 Yagotoyama, Tempaku-ku, Nagoya 468-8503, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2017,3,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1146\/annurev.biochem.67.1.609","article-title":"Matrix proteoglycans: From molecular design to cellular function","volume":"67","author":"Iozzo","year":"1998","journal-title":"Annu. Rev. Biochem."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"4583","DOI":"10.1021\/acs.biochem.5b00653","article-title":"Decoding the matrix: Instructive roles of proteoglycan receptors","volume":"54","author":"Neill","year":"2015","journal-title":"Biochemistry"},{"key":"ref_3","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":"ref_4","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/j.sbi.2015.06.004","article-title":"Molecular interactions between chondroitin-dermatan sulfate and growth factors\/receptors\/matrix proteins","volume":"34","author":"Mizumoto","year":"2015","journal-title":"Curr. Opin. Struct. Biol."},{"key":"ref_5","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":"ref_6","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1038\/1746","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":"ref_7","doi-asserted-by":"crossref","first-page":"9636","DOI":"10.1074\/jbc.274.14.9636","article-title":"Fibromodulin-null mice have abnormal collagen fibrils, tissue organization, and altered lumican deposition in tendon","volume":"274","author":"Svensson","year":"1999","journal-title":"J. Biol. Chem."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"107R","DOI":"10.1093\/glycob\/cwf065","article-title":"Mice deficient in small leucine-rich proteoglycans: novel in vivo models for osteoporosis, osteoarthritis, Ehlers-Danlos syndrome, muscular dystrophy, and corneal diseases","volume":"12","author":"Ameye","year":"2002","journal-title":"Glycobiology"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1180","DOI":"10.1359\/jbmr.2002.17.7.1180","article-title":"Phenotypic effects of biglycan deficiency are linked to collagen fibril abnormalities, are synergized by decorin deficiency, and mimic Ehlers-Danlos-like changes in bone and other connective tissues","volume":"17","author":"Corsi","year":"2002","journal-title":"J. Bone Miner. Res."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1063","DOI":"10.1172\/JCI12881","article-title":"The Ehlers-Danlos syndrome: On beyond collagens","volume":"107","author":"Mao","year":"2001","journal-title":"J. Clin. Investig."},{"key":"ref_11","doi-asserted-by":"crossref","unstructured":"Oiso, N., and Kawada, A. (2013). Current Genetics in Dermatology, InTech.","DOI":"10.5772\/3340"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1111\/ped.12878","article-title":"CHST14\/D4ST1 deficiency: new form of Ehlers-Danlos syndrome","volume":"58","author":"Kosho","year":"2016","journal-title":"Pediatr. Int."},{"key":"ref_13","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 \u03b2-d-xylosyltransferase and its first isoform XT-II","volume":"304","author":"Kuhn","year":"2000","journal-title":"J. Mol. Biol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"5201","DOI":"10.1074\/jbc.M611665200","article-title":"Human xylosyltransferase II is involved in the biosynthesis of the uniform tetrasaccharide linkage region in chondroitin sulfate and heparan sulfate proteoglycans","volume":"282","author":"Ambrosius","year":"2007","journal-title":"J. Biol. Chem."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"26165","DOI":"10.1074\/jbc.274.37.26165","article-title":"Cloning and expression of a proteoglycan UDP-galactose: \u03b2-xylose \u03b21,4-galactosyltransferase I: A seventh member of the human \u03b24-galactosyltransferase gene family","volume":"274","author":"Almeida","year":"1999","journal-title":"J. Biol. Chem."},{"key":"ref_16","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. Biol. Chem."},{"key":"ref_17","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 \u03b21,3-galactosyltransferase family (\u03b23GalT6)","volume":"276","author":"Bai","year":"2001","journal-title":"J. Biol. Chem."},{"key":"ref_18","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. Biol. Chem."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"38721","DOI":"10.1074\/jbc.M106871200","article-title":"Molecular cloning and expression of a human chondroitin synthase","volume":"276","author":"Kitagawa","year":"2001","journal-title":"J. Biol. Chem."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"23666","DOI":"10.1074\/jbc.M302493200","article-title":"Molecular cloning of a chondroitin polymerizing factor that cooperates with chondroitin synthase for chondroitin polymerization","volume":"278","author":"Kitagawa","year":"2003","journal-title":"J. Biol. Chem."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1042\/BJ20061876","article-title":"Involvement of chondroitin sulfate synthase-3 (chondroitin synthase-2) in chondroitin polymerization through its interaction with chondroitin synthase-1 or chondroitin polymerizing factor","volume":"403","author":"Izumikawa","year":"2007","journal-title":"Biochem. J."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"11396","DOI":"10.1074\/jbc.M707549200","article-title":"Identification of chondroitin sulfate glucuronyltransferase as chondroitin synthase-3 involved in chondroitin polymerization: Chondroitin polymerization is achieved by multiple enzyme complexes consisting of chondroitin synthase family members","volume":"283","author":"Izumikawa","year":"2008","journal-title":"J. Biol. Chem."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"8841","DOI":"10.1074\/jbc.M111434200","article-title":"Molecular cloning and expression of human chondroitin N-acetylgalactosaminyltransferase: The key enzyme for chain initiation and elongation of chondroitin\/dermatan sulfate on the protein linkage region tetrasaccharide shared by heparin\/heparan sulfate","volume":"277","author":"Uyama","year":"2002","journal-title":"J. Biol. Chem."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"3072","DOI":"10.1074\/jbc.M209446200","article-title":"Molecular cloning and expression of a second chondroitin N-acetylgalactosaminyltransferase involved in the initiation and elongation of chondroitin\/dermatan sulfate","volume":"278","author":"Uyama","year":"2003","journal-title":"J. Biol. Chem."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"11560","DOI":"10.1074\/jbc.M513373200","article-title":"Biosynthesis of dermatan sulfate: Chondroitin-glucuronate C5-epimerase is identical to SART2","volume":"281","author":"Maccarana","year":"2006","journal-title":"J. Biol. Chem."},{"key":"ref_26","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":"ref_27","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":"ref_28","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":"ref_29","doi-asserted-by":"crossref","first-page":"10474","DOI":"10.1074\/jbc.274.15.10474","article-title":"Molecular cloning and characterization of a human uronyl 2-sulfotransferase that sulfates iduronyl and glucuronyl residues in dermatan\/chondroitin sulfate","volume":"274","author":"Kobayashi","year":"1999","journal-title":"J. Biol. Chem."},{"key":"ref_30","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":"ref_31","doi-asserted-by":"crossref","first-page":"28841","DOI":"10.1074\/jbc.274.41.28841","article-title":"Molecular basis for the progeroid variant of Ehlers-Danlos syndrome: Identification and characterization of two mutations in galactosyltransferase I gene","volume":"274","author":"Okajima","year":"1999","journal-title":"J. Biol. Chem."},{"key":"ref_32","first-page":"39","article-title":"A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type","volume":"128","author":"Zaidi","year":"2004","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1007\/s00109-006-0046-4","article-title":"Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers-Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (\u03b24GalT-7)","volume":"84","author":"Seidler","year":"2006","journal-title":"J. Mol. Med. (Berl.)"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1007\/s10528-005-1068-2","article-title":"Defective glycosaminoglycan substitution of decorin in a patient with progeroid syndrome is a direct consequence of two point mutations in the galactosyltransferase I (\u03b24GalT-7) gene","volume":"43","author":"Kresse","year":"2005","journal-title":"Biochem. Genet."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"996","DOI":"10.1093\/hmg\/ddm372","article-title":"Changes in heparan sulfate are associated with delayed wound repair, altered cell migration, adhesion and contractility in the galactosyltransferase I (\u03b24GalT-7) deficient form of Ehlers-Danlos syndrome","volume":"17","author":"Spillmann","year":"2008","journal-title":"Hum. Mol. Genet."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1038\/ejhg.2014.60","article-title":"Expanding the clinical spectrum of B4GALT7 deficiency: Homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome","volume":"23","author":"Cartault","year":"2015","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1016\/S0022-3476(50)80268-8","article-title":"Multiple congenital dislocations associated with characteristic facial abnormality","volume":"37","author":"Larsen","year":"1950","journal-title":"J. Pediatr."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"927","DOI":"10.1016\/j.ajhg.2013.04.003","article-title":"Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders","volume":"92","author":"Nakajima","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"935","DOI":"10.1016\/j.ajhg.2013.04.016","article-title":"A. Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder","volume":"92","author":"Malfait","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1111\/cge.12413","article-title":"Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type): Mutation analysis in 8 affected South African families","volume":"87","author":"Vorster","year":"2015","journal-title":"Clin. Genet."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1007\/s00439-016-1660-z","article-title":"Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue","volume":"135","author":"Alazami","year":"2016","journal-title":"Hum. Genet."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"3761","DOI":"10.1093\/hmg\/ddt227","article-title":"Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome","volume":"22","author":"Mizumoto","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1002\/humu.22774","article-title":"Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis","volume":"36","author":"Syx","year":"2015","journal-title":"Hum. Mutat."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1002\/ajmg.a.30965","article-title":"Ehlers-Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls","volume":"138","author":"Kosho","year":"2005","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"1333","DOI":"10.1002\/ajmg.a.33498","article-title":"A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations","volume":"152","author":"Kosho","year":"2010","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_46","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":"ref_47","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":"Zhang","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"ref_48","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 syndrome observed in Turkish cousins","volume":"51","author":"Dundar","year":"1997","journal-title":"Clin. Genet."},{"key":"ref_49","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":"ref_50","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":"ref_51","doi-asserted-by":"crossref","first-page":"1507","DOI":"10.1002\/humu.21586","article-title":"A response to: loss of dermatan-4-sulfotransferase 1 (D4ST1\/CHST14) function represents the first dermatan sulfate biosynthesis defect, \u201cdermatan sulfate-deficient Adducted Thumb-Clubfoot Syndrome\u201d. Which name is appropriate, \u201cAdducted Thumb-Clubfoot Syndrome\u201d or \u201cEhlers-Danlos syndrome?\u201d","volume":"32","author":"Kosho","year":"2011","journal-title":"Hum. Mutat."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"1949","DOI":"10.1002\/ajmg.a.34115","article-title":"Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome: observation of two additional patients and comprehensive review of 20 reported patients","volume":"155","author":"Shimizu","year":"2011","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_53","first-page":"1344","article-title":"Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene","volume":"158","author":"Chitayat","year":"2012","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"850","DOI":"10.1002\/ajmg.a.35232","article-title":"Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation","volume":"158","author":"Voermans","year":"2012","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"2935","DOI":"10.1002\/ajmg.a.35613","article-title":"Re-assigned diagnosis of D4ST1-deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) after initial diagnosis of Marden-Walker syndrome","volume":"158","author":"Winters","year":"2012","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1002\/ajmg.a.37383","article-title":"The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations","volume":"170","author":"Janecke","year":"2016","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_57","first-page":"830","article-title":"A 45-year-old woman with Ehlers-Danlos syndrome caused by dermatan 4-O-sulfotransferase-1 deficiency: Implications for early ageing","volume":"96","author":"Kono","year":"2016","journal-title":"Acta Derm. Venereol."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"832","DOI":"10.1111\/1346-8138.13273","article-title":"Dermatan 4-O-sulfotransferase 1-deficient Ehlers-Danlos syndrome complicated by a large subcutaneous hematoma on the back","volume":"43","author":"Mochida","year":"2016","journal-title":"J. Dermatol."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"2042","DOI":"10.1002\/ajmg.a.37118","article-title":"A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity","volume":"167","author":"Salpietro","year":"2015","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1167\/iovs.04-0804","article-title":"Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene","volume":"46","author":"Bredrup","year":"2005","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1016\/j.ajo.2006.03.064","article-title":"A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy","volume":"142","author":"Rodahl","year":"2006","journal-title":"Am. J. Ophthalmol."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"1473","DOI":"10.1097\/ICO.0b013e3182137788","article-title":"A novel mutation of the decorin gene identified in a Korean family with congenital hereditary stromal dystrophy","volume":"30","author":"Kim","year":"2011","journal-title":"Cornea"},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1097\/ICO.0000000000000055","article-title":"Novel decorin mutation in a Chinese family with congenital stromal corneal dystrophy","volume":"33","author":"Jing","year":"2014","journal-title":"Cornea"},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1097\/00003226-200201000-00025","article-title":"Report of a new family with dominant congenital heredity stromal dystrophy of the cornea","volume":"21","author":"Casteels","year":"2002","journal-title":"Cornea"},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"1243","DOI":"10.1016\/j.ajhg.2016.04.004","article-title":"BGN mutations in X-linked spondyloepimetaphyseal dysplasia","volume":"98","author":"Cho","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"ref_66","doi-asserted-by":"crossref","unstructured":"Meester, J.A., Vandeweyer, G., Pintelon, I., Lammens, M., Van Hoorick, L., De Belder, S., Waitzman, K., Young, L., Markham, L.W., and Vogt, J. (2016). Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections. Genet. Med.","DOI":"10.1038\/gim.2016.126"},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"5517","DOI":"10.1128\/MCB.00430-09","article-title":"Dermatan sulfate epimerase 1-deficient mice have reduced content and changed distribution of iduronic acids in dermatan sulfate and an altered collagen structure in skin","volume":"29","author":"Maccarana","year":"2009","journal-title":"Mol. Cell. Biol."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1016\/S0021-9258(17)43635-0","article-title":"Biosynthesis of dermatan sulfate. II. Substrate specificity of the C-5 uronosyl epimerase","volume":"259","year":"1984","journal-title":"J. Biol. Chem."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1016\/j.expneurol.2013.01.025","article-title":"Dermatan 4-O-sulfotransferase1 ablation accelerates peripheral nerve regeneration","volume":"247","author":"Rost","year":"2013","journal-title":"Exp. Neurol."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"4051","DOI":"10.1242\/jcs.088120","article-title":"Dermatan sulfotransferase Chst14\/d4st1, but not chondroitin sulfotransferase Chst11\/C4st1, regulates proliferation and neurogenesis of neural progenitor cells","volume":"124","author":"Bian","year":"2011","journal-title":"J. Cell Sci."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1016\/j.ajhg.2010.04.011","article-title":"Haploinsufficiency of TAB2 causes congenital heart defects in humans","volume":"86","author":"Thienpont","year":"2010","journal-title":"Am. J. Hum. Genet."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1038\/5965","article-title":"Mice deficient of Lats1 develop soft-tissue sarcomas, ovarian tumours and pituitary dysfunction","volume":"21","author":"Tao","year":"1999","journal-title":"Nat. Genet."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1016\/j.matbio.2016.09.009","article-title":"Decorin interacting network: A comprehensive analysis of decorin-binding partners and their versatile functions","volume":"55","author":"Gubbiotti","year":"2016","journal-title":"Matrix Biol."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"2409","DOI":"10.1016\/j.ajpath.2011.07.026","article-title":"Pathophysiological mechanisms of autosomal dominant congenital stromal corneal dystrophy: C-terminal-truncated decorin results in abnormal matrix assembly and altered expression of small leucine-rich proteoglycans","volume":"179","author":"Chen","year":"2011","journal-title":"Am. J. Pathol."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"2909","DOI":"10.1167\/iovs.14-16014","article-title":"Development of congenital stromal corneal dystrophy is dependent on export and extracellular deposition of truncated decorin","volume":"56","author":"Mellgren","year":"2015","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1007\/s00441-015-2233-5","article-title":"Collagens and proteoglycans of the cornea: importance in transparency and visual disorders","volume":"363","author":"Massoudi","year":"2016","journal-title":"Cell Tissue Res."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"1869","DOI":"10.1038\/labinvest.3780197","article-title":"A role for decorin in the structural organization of periodontal ligament","volume":"80","author":"Strassburger","year":"2000","journal-title":"Lab. Investig."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"2776","DOI":"10.1074\/jbc.270.6.2776","article-title":"Interaction of biglycan with type I collagen","volume":"270","author":"Harrach","year":"1995","journal-title":"J. Biol. Chem."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1042\/bj3020527","article-title":"Interaction of the small interstitial proteoglycans biglycan, decorin and fibromodulin with transforming growth factor beta","volume":"302","author":"Hildebrand","year":"1994","journal-title":"Biochem. J."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"948","DOI":"10.1096\/fj.03-0899com","article-title":"The small leucine-rich proteoglycan biglycan modulates BMP-4-induced osteoblast differentiation","volume":"18","author":"Chen","year":"2004","journal-title":"FASEB J."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"17022","DOI":"10.1073\/pnas.1110629108","article-title":"Modulation of canonical Wnt signaling by the extracellular matrix component biglycan","volume":"108","author":"Berendsen","year":"2011","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1007\/978-94-007-7893-1_7","article-title":"Loeys-Dietz syndrome","volume":"802","author":"Dietz","year":"2014","journal-title":"Adv. Exp. Med. Biol."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"17365","DOI":"10.1074\/jbc.M110.192682","article-title":"Deficiency of biglycan causes cardiac fibroblasts to differentiate into a myofibroblast phenotype","volume":"286","author":"Dai","year":"2011","journal-title":"J. Biol. Chem."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"2731","DOI":"10.1161\/CIRCULATIONAHA.106.653980","article-title":"Biglycan deficiency causes spontaneous aortic dissection and rupture in mice","volume":"115","author":"Heegaard","year":"2007","journal-title":"Circulation"}],"container-title":["Pharmaceuticals"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1424-8247\/10\/2\/34\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T18:31:20Z","timestamp":1760207480000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1424-8247\/10\/2\/34"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,3,27]]},"references-count":84,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2017,6]]}},"alternative-id":["ph10020034"],"URL":"https:\/\/doi.org\/10.3390\/ph10020034","relation":{},"ISSN":["1424-8247"],"issn-type":[{"value":"1424-8247","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,3,27]]}}}