{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T13:33:45Z","timestamp":1790775225466,"version":"4.1.0"},"reference-count":87,"publisher":"Oxford University Press (OUP)","issue":"24","license":[{"start":{"date-parts":[[2019,10,10]],"date-time":"2019-10-10T00:00:00Z","timestamp":1570665600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01HD090156"],"award-info":[{"award-number":["R01HD090156"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01HD096030"],"award-info":[{"award-number":["R01HD096030"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["EY024943"],"award-info":[{"award-number":["EY024943"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008065","name":"Georgia Research Alliance","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008065","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,12,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Peters plus syndrome (MIM #261540 PTRPLS), characterized by defects in eye development, prominent forehead, hypertelorism, short stature and brachydactyly, is caused by mutations in the \u03b23-glucosyltransferase (B3GLCT) gene. Protein O-fucosyltransferase 2 (POFUT2) and B3GLCT work sequentially to add an O-linked glucose \u03b21-3fucose disaccharide to properly folded thrombospondin type 1 repeats (TSRs). Forty-nine proteins are predicted to be modified by POFUT2, and nearly half are members of the ADAMTS superfamily. Previous studies suggested that O-linked fucose is essential for folding and secretion of POFUT2-modified proteins and that B3GLCT-mediated extension to the disaccharide is essential for only a subset of targets. To test this hypothesis and gain insight into the origin of PTRPLS developmental defects, we developed and characterized two mouse B3glct knockout alleles. Using these models, we tested the role of B3GLCT in enabling function of ADAMTS9 and ADAMTS20, two highly conserved targets whose functions are well characterized in mouse development. The mouse B3glct mutants developed craniofacial and skeletal abnormalities comparable to PTRPLS. In addition, we observed highly penetrant hydrocephalus, white spotting and soft tissue syndactyly. We provide strong genetic and biochemical evidence that hydrocephalus and white spotting in B3glct mutants resulted from loss of ADAMTS20, eye abnormalities from partial reduction of ADAMTS9 and cleft palate from loss of ADAMTS20 and partially reduced ADAMTS9 function. Combined, these results provide compelling evidence that ADAMTS9 and ADAMTS20 were differentially sensitive to B3GLCT inactivation and suggest that the developmental defects in PTRPLS result from disruption of a subset of highly sensitive POFUT2\/B3GLCT targets such as ADAMTS20.<\/jats:p>","DOI":"10.1093\/hmg\/ddz225","type":"journal-article","created":{"date-parts":[[2019,10,1]],"date-time":"2019-10-01T23:33:22Z","timestamp":1569972802000},"page":"4053-4066","source":"Crossref","is-referenced-by-count":34,"title":["ADAMTS9 and ADAMTS20 are differentially affected by loss of B3GLCT in mouse model of Peters plus syndrome"],"prefix":"10.1093","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4713-9264","authenticated-orcid":false,"given":"Bernadette C","family":"Holdener","sequence":"first","affiliation":[{"name":"Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY 11794, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8883-9737","authenticated-orcid":false,"given":"Christopher J","family":"Percival","sequence":"additional","affiliation":[{"name":"Department of Anthropology, Stony Brook University, Stony Brook, NY 11794, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard C","family":"Grady","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY 11794, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel C","family":"Cameron","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY 11794, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven J","family":"Berardinelli","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, Complex Carbohydrate Research Center, University of Georgia, Athens, GA 30602, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ao","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, Complex Carbohydrate Research Center, University of Georgia, Athens, GA 30602, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanjiv","family":"Neupane","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Cell Biology, Stony Brook University, Stony Brook, NY 11794, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Megumi","family":"Takeuchi","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, Complex Carbohydrate Research Center, University of Georgia, Athens, GA 30602, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Javier C","family":"Jimenez-Vega","sequence":"additional","affiliation":[{"name":"Department of Bioengineering, Stony Brook University, Stony Brook, NY 11794, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sardar M Z","family":"Uddin","sequence":"additional","affiliation":[{"name":"Department of Orthopaedics, Stony Brook University, Stony Brook, NY 11794, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David E","family":"Komatsu","sequence":"additional","affiliation":[{"name":"Department of Orthopaedics, Stony Brook University, Stony Brook, NY 11794, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Honkanen","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Stony Brook University, Stony Brook, NY 11794, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanne","family":"Dubail","sequence":"additional","affiliation":[{"name":"Department of Biomedical Engineering, Cleveland Clinic Lerner Institute, Cleveland, OH 44195, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suneel S","family":"Apte","sequence":"additional","affiliation":[{"name":"Department of Biomedical Engineering, Cleveland Clinic Lerner Institute, Cleveland, OH 44195, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takashi","family":"Sato","sequence":"additional","affiliation":[{"name":"National Institute of Advanced Industrial Science and Technology, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hisashi","family":"Narimatsu","sequence":"additional","affiliation":[{"name":"National Institute of Advanced Industrial Science and Technology, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steve A","family":"McClain","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Department of Emergency Medicine, Stony Brook University, Stony Brook, NY 11794, USA"},{"name":"Department of Emergency Medicine, Stony Brook University, Stony Brook, NY 11794, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7439-9577","authenticated-orcid":false,"given":"Robert S","family":"Haltiwanger","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, Complex Carbohydrate Research Center, University of Georgia, Athens, GA 30602, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2019,10,10]]},"reference":[{"key":"2020013009364812300_ref1","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1093\/glycob\/cww086","article-title":"Biological roles of glycans","volume":"27","author":"Varki","year":"2017","journal-title":"Glycobiology"},{"key":"2020013009364812300_ref2","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1016\/j.ajhg.2013.10.024","article-title":"Solving glycosylation disorders: fundamental approaches reveal complicated pathways","volume":"94","author":"Freeze","year":"2014","journal-title":"Am. J. Hum. Genet."},{"key":"2020013009364812300_ref3","doi-asserted-by":"crossref","first-page":"141","DOI":"10.3109\/13816818409006113","article-title":"Peters'-plus: a new syndrome","volume":"4","author":"van Schooneveld","year":"1984","journal-title":"Ophthalmic Paed. Gen."},{"key":"2020013009364812300_ref4","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/S0003-3995(02)01120-6","article-title":"The Peters' plus syndrome: a review","volume":"45","author":"Maillette de Buy Wenniger-Prick","year":"2002","journal-title":"Ann. Genet."},{"key":"2020013009364812300_ref5","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1111\/j.1399-0004.2009.01253.x","article-title":"Novel B3GALTL mutation in Peters-plus syndrome","volume":"76","author":"Dassie-Ajdid","year":"2009","journal-title":"Clin. Genet."},{"key":"2020013009364812300_ref6","doi-asserted-by":"crossref","first-page":"7354","DOI":"10.1074\/jbc.M710251200","article-title":"Peters plus syndrome is a new congenital disorder of glycosylation and involves defective O-glycosylation of thrombospondin type 1 repeats","volume":"283","author":"Hess","year":"2008","journal-title":"J. Biol. Chem."},{"key":"2020013009364812300_ref7","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1080\/07853890802301975","article-title":"Peters'-plus syndrome is a congenital disorder of glycosylation caused by a defect in the beta1,3-glucosyltransferase that modifies thrombospondin type 1 repeats","volume":"41","author":"Heinonen","year":"2009","journal-title":"Ann. Med."},{"key":"2020013009364812300_ref8","doi-asserted-by":"crossref","first-page":"562","DOI":"10.1086\/507567","article-title":"Peters plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase","volume":"79","author":"Lesnik Oberstein","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"2020013009364812300_ref9","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1111\/cge.12241","article-title":"Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes","volume":"86","author":"Weh","year":"2014","journal-title":"Clin. Genet."},{"key":"2020013009364812300_ref10","first-page":"283","article-title":"The Peters'-plus syndrome: description of 16 patients and review of the literature","volume":"2","author":"Hennekam","year":"1993","journal-title":"Clin. Dysmorphol."},{"key":"2020013009364812300_ref11","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1002\/pd.4012","article-title":"Hydrocephalus, agenesis of the corpus callosum, and cleft lip\/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele","volume":"33","author":"Schoner","year":"2013","journal-title":"Prenat. Diagn."},{"key":"2020013009364812300_ref12","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1016\/j.cub.2014.11.049","article-title":"Peters plus syndrome mutations disrupt a noncanonical ER quality-control mechanism","volume":"25","author":"Vasudevan","year":"2015","journal-title":"Curr. Biol."},{"key":"2020013009364812300_ref13","doi-asserted-by":"crossref","first-page":"9385","DOI":"10.1074\/jbc.M511974200","article-title":"Two distinct pathways for O-fucosylation of epidermal growth factor-like or thrombospondin type 1 repeats","volume":"281","author":"Luo","year":"2006","journal-title":"J. Biol. Chem."},{"key":"2020013009364812300_ref14","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1007\/s10719-014-9556-4","article-title":"Novel roles for O-linked glycans in protein folding","volume":"31","author":"Vasudevan","year":"2014","journal-title":"Glycoconj. J."},{"key":"2020013009364812300_ref15","doi-asserted-by":"crossref","first-page":"36742","DOI":"10.1074\/jbc.M605912200","article-title":"Identification and characterization of a beta1,3-glucosyltransferase that synthesizes the Glc-beta1,3-Fuc disaccharide on thrombospondin type 1 repeats","volume":"281","author":"Kozma","year":"2006","journal-title":"J. Biol. Chem."},{"key":"2020013009364812300_ref16","doi-asserted-by":"crossref","first-page":"1194","DOI":"10.1093\/glycob\/cwl035","article-title":"Molecular cloning and characterization of a novel human beta1,3-glucosyltransferase, which is localized at the endoplasmic reticulum and glucosylates O-linked fucosylglycan on thrombospondin type 1 repeat domain","volume":"16","author":"Sato","year":"2006","journal-title":"Glycobiology"},{"key":"2020013009364812300_ref17","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1093\/glycob\/cwx034","article-title":"Biological functions of fucose in mammals","volume":"27","author":"Schneider","year":"2017","journal-title":"Glycobiology"},{"key":"2020013009364812300_ref18","doi-asserted-by":"crossref","first-page":"2011","DOI":"10.1042\/BCJ20160148","article-title":"The ADAMTS hyalectanase family: biological insights from diverse species","volume":"473","author":"Dancevic","year":"2016","journal-title":"Biochem. J."},{"key":"2020013009364812300_ref19","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1016\/j.matbio.2015.03.001","article-title":"Insights on ADAMTS proteases and ADAMTS-like proteins from mammalian genetics","volume":"44-46","author":"Dubail","year":"2015","journal-title":"Matrix biol."},{"key":"2020013009364812300_ref20","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1186\/s13059-015-0676-3","article-title":"The ADAMTS (a Disintegrin and metalloproteinase with Thrombospondin motifs) family","volume":"16","author":"Kelwick","year":"2015","journal-title":"Genome Biol."},{"key":"2020013009364812300_ref21","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1016\/j.matbio.2018.06.002","article-title":"ADAMTS proteins in human disorders","volume":"71-72","author":"Mead","year":"2018","journal-title":"Matrix biol."},{"key":"2020013009364812300_ref22","doi-asserted-by":"crossref","first-page":"19274","DOI":"10.1073\/pnas.0909755106","article-title":"Crystal structures of the noncatalytic domains of ADAMTS13 reveal multiple discontinuous exosites for von Willebrand factor","volume":"106","author":"Akiyama","year":"2009","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"2020013009364812300_ref23","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1016\/j.sbi.2018.12.005","article-title":"Protein O-fucosylation: structure and function","volume":"56","author":"Holdener","year":"2019","journal-title":"Curr. Opin. Struct. Biol."},{"key":"2020013009364812300_ref24","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1016\/j.ydbio.2016.05.038","article-title":"Genetic and biochemical evidence that gastrulation defects in Pofut2 mutants result from defects in ADAMTS9 secretion","volume":"416","author":"Benz","year":"2016","journal-title":"Dev. Biol."},{"key":"2020013009364812300_ref25","doi-asserted-by":"crossref","first-page":"33974","DOI":"10.1038\/srep33974","article-title":"Impaired ADAMTS9 secretion: a potential mechanism for eye defects in Peters plus syndrome","volume":"6","author":"Dubail","year":"2016","journal-title":"Sci. Rep."},{"key":"2020013009364812300_ref26","doi-asserted-by":"crossref","DOI":"10.1038\/srep41871","article-title":"Unusual life cycle and impact on microfibril assembly of ADAMTS17, a secreted metalloprotease mutated in genetic eye disease","volume":"7","author":"Hubmacher","year":"2017","journal-title":"Sci. Rep."},{"key":"2020013009364812300_ref27","doi-asserted-by":"crossref","first-page":"3287","DOI":"10.1016\/j.febslet.2015.09.012","article-title":"O-fucosylation of CCN1 is required for its secretion","volume":"589","author":"Niwa","year":"2015","journal-title":"FEBS Lett."},{"key":"2020013009364812300_ref28","doi-asserted-by":"crossref","first-page":"17014","DOI":"10.1074\/jbc.M700317200","article-title":"O-fucosylation is required for ADAMTS13 secretion","volume":"282","author":"Ricketts","year":"2007","journal-title":"J. Biol. Chem."},{"key":"2020013009364812300_ref29","doi-asserted-by":"crossref","first-page":"17024","DOI":"10.1074\/jbc.M701065200","article-title":"O-fucosylation of thrombospondin type 1 repeats in ADAMTS-like-1\/punctin-1 regulates secretion: implications for the ADAMTS superfamily","volume":"282","author":"Wang","year":"2007","journal-title":"J. Biol. Chem."},{"key":"2020013009364812300_ref30","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/j.ydbio.2010.07.008","article-title":"O-Fucosylation of thrombospondin type 1 repeats restricts epithelial to mesenchymal transition (EMT) and maintains epiblast pluripotency during mouse gastrulation","volume":"346","author":"Du","year":"2010","journal-title":"Dev. Biol."},{"key":"2020013009364812300_ref31","doi-asserted-by":"crossref","first-page":"1439","DOI":"10.1534\/g3.117.040659","article-title":"The interaction of genetic background and mutational effects in regulation of mouse craniofacial shape","volume":"7","author":"Percival","year":"2017","journal-title":"G3"},{"key":"2020013009364812300_ref32","doi-asserted-by":"crossref","first-page":"32","DOI":"10.7150\/ijbs.16287","article-title":"Deformed skull morphology is caused by the combined effects of the Maldevelopment of calvarias, Cranial Base and brain in FGFR2-P253R mice mimicking human Apert syndrome","volume":"13","author":"Luo","year":"2017","journal-title":"Int. J. Biol. Sci."},{"key":"2020013009364812300_ref33","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1016\/j.matbio.2015.05.004","article-title":"ADAMTS proteins as modulators of microfibril formation and function","volume":"47","author":"Hubmacher","year":"2015","journal-title":"Matrix biol."},{"key":"2020013009364812300_ref34","doi-asserted-by":"crossref","first-page":"4029","DOI":"10.1242\/dev.050591","article-title":"Cooperation of two ADAMTS metalloproteases in closure of the mouse palate identifies a requirement for versican proteolysis in regulating palatal mesenchyme proliferation","volume":"137","author":"Enomoto","year":"2010","journal-title":"Development"},{"key":"2020013009364812300_ref35","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1111\/j.1525-142X.2006.05075.x","article-title":"The brachymorph mouse and the developmental-genetic basis for canalization and morphological integration","volume":"8","author":"Hallgrimsson","year":"2006","journal-title":"Evol. Dev."},{"key":"2020013009364812300_ref36","doi-asserted-by":"crossref","first-page":"1483","DOI":"10.1007\/s00381-012-1778-9","article-title":"Phenotype profile of a genetic mouse model for Muenke syndrome","volume":"28","author":"Nah","year":"2012","journal-title":"Childs. Nerv. Syst."},{"key":"2020013009364812300_ref37","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1016\/j.ydbio.2013.12.016","article-title":"Reduced Euchromatin histone methyltransferase 1 causes developmental delay, hypotonia, and cranial abnormalities associated with increased bone gene expression in Kleefstra syndrome mice","volume":"386","author":"Balemans","year":"2014","journal-title":"Dev. Biol."},{"key":"2020013009364812300_ref38","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0184903","article-title":"Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters plus syndrome","volume":"12","author":"Weh","year":"2017","journal-title":"PLoS One"},{"key":"2020013009364812300_ref39","doi-asserted-by":"crossref","first-page":"1519","DOI":"10.1016\/j.celrep.2015.05.005","article-title":"ADAMTS9-mediated extracellular matrix dynamics regulates umbilical cord vascular smooth muscle differentiation and rotation","volume":"11","author":"Nandadasa","year":"2015","journal-title":"Cell Rep."},{"key":"2020013009364812300_ref40","doi-asserted-by":"crossref","first-page":"4665","DOI":"10.1242\/dev.00668","article-title":"A defect in a novel ADAMTS family member is the cause of the belted white-spotting mutation","volume":"130","author":"Rao","year":"2003","journal-title":"Development"},{"key":"2020013009364812300_ref41","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1000003","article-title":"The secreted metalloprotease ADAMTS20 is required for melanoblast survival","volume":"4","author":"Silver","year":"2008","journal-title":"PLoS Genet."},{"key":"2020013009364812300_ref42","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1016\/j.devcel.2009.09.008","article-title":"ADAMTS metalloproteases generate active versican fragments that regulate interdigital web regression","volume":"17","author":"McCulloch","year":"2009","journal-title":"Dev. Cell"},{"key":"2020013009364812300_ref43","doi-asserted-by":"crossref","first-page":"9503","DOI":"10.1074\/jbc.M211009200","article-title":"Characterization of ADAMTS-9 and ADAMTS-20 as a distinct ADAMTS subfamily related to Caenorhabditis elegans GON-1","volume":"278","author":"Somerville","year":"2003","journal-title":"J. Biol. Chem."},{"key":"2020013009364812300_ref44","doi-asserted-by":"crossref","first-page":"2603","DOI":"10.1002\/ajmg.a.32498","article-title":"Mutation analysis of B3GALTL in Peters plus syndrome","volume":"146A","author":"Reis","year":"2008","journal-title":"Am. J. Med. Gen."},{"key":"2020013009364812300_ref45","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1097\/00019605-199310000-00002","article-title":"Kivlin syndrome and Peters'-plus syndrome: are they the same disorder?","volume":"2","author":"Thompson","year":"1993","journal-title":"Clin Dysmorphol."},{"key":"2020013009364812300_ref46","doi-asserted-by":"crossref","first-page":"C1504","DOI":"10.1152\/ajpcell.00579.2002","article-title":"Depletion of cartilage collagen fibrils in mice carrying a dominant negative Col2a1 transgene affects chondrocyte differentiation","volume":"285","author":"Barbieri","year":"2003","journal-title":"Am. J. Physiol. Cell Physiol."},{"key":"2020013009364812300_ref47","first-page":"5","article-title":"Surviving endoplasmic reticulum stress is coupled to altered chondrocyte differentiation and function","volume":"e44","author":"Tsang","year":"2007","journal-title":"PLoS Biol."},{"key":"2020013009364812300_ref48","doi-asserted-by":"crossref","first-page":"4572","DOI":"10.1093\/hmg\/ddx339","article-title":"Activating the unfolded protein response in osteocytes causes hyperostosis consistent with craniodiaphyseal dysplasia","volume":"26","author":"Chan","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"2020013009364812300_ref49","doi-asserted-by":"crossref","first-page":"11902","DOI":"10.1073\/pnas.172277399","article-title":"Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity","volume":"99","author":"Kokame","year":"2002","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"2020013009364812300_ref50","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1146\/annurev-med-061813-013241","article-title":"ADAMTS13 and von Willebrand factor in thrombotic thrombocytopenic purpura","volume":"66","author":"Zheng","year":"2015","journal-title":"Annu. Rev. Med."},{"key":"2020013009364812300_ref51","doi-asserted-by":"crossref","first-page":"4095","DOI":"10.1093\/hmg\/ddx297","article-title":"Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3","volume":"26","author":"Brouillard","year":"2017","journal-title":"Hum. Mol. Genet."},{"key":"2020013009364812300_ref52","doi-asserted-by":"crossref","first-page":"882","DOI":"10.1038\/gim.2015.188","article-title":"Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome dermatosparaxis type","volume":"18","author":"Van Damme","year":"2016","journal-title":"Genet. Med."},{"key":"2020013009364812300_ref53","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1111\/j.1365-2052.2011.02275.x","article-title":"A premature stop codon in the ADAMTS2 gene is likely to be responsible for dermatosparaxis in Dorper sheep","volume":"43","author":"Zhou","year":"2012","journal-title":"Anim. Genet."},{"key":"2020013009364812300_ref54","doi-asserted-by":"crossref","first-page":"702","DOI":"10.1002\/dvg.22784","article-title":"A new Adamts9 conditional mouse allele identifies its non-redundant role in interdigital web regression","volume":"52","author":"Dubail","year":"2014","journal-title":"Genesis"},{"key":"2020013009364812300_ref55","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1007\/978-1-62703-989-5_9","article-title":"Whole-mount skeletal staining","volume":"1130","author":"Rigueur","year":"2014","journal-title":"Methods Mol. Biol."},{"key":"2020013009364812300_ref56","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1016\/S0092-8674(03)00045-X","article-title":"Mesd encodes an LRP5\/6 chaperone essential for specification of mouse embryonic polarity","volume":"112","author":"Hsieh","year":"2003","journal-title":"Cell"},{"key":"2020013009364812300_ref57","doi-asserted-by":"crossref","first-page":"1494","DOI":"10.2353\/ajpath.2010.090655","article-title":"ADAMTS9 is a cell-autonomously acting, anti-angiogenic metalloprotease expressed by microvascular endothelial cells","volume":"176","author":"Koo","year":"2010","journal-title":"Am. J. Pathol."},{"key":"2020013009364812300_ref58","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1007\/978-1-4939-1139-4_16","article-title":"Analyzing the posttranslational modification status of notch using mass spectrometry","volume":"1187","author":"Kakuda","year":"2014","journal-title":"Methods Mol. Biol."},{"key":"2020013009364812300_ref59","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/j.ajhg.2018.11.003","article-title":"Mutations of ADAMTS9 cause Nephronophthisis-related Ciliopathy","volume":"104","author":"Choi","year":"2019","journal-title":"Am J. Hum. Genet."},{"key":"2020013009364812300_ref60","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1086\/425231","article-title":"ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome","volume":"75","author":"Dagoneau","year":"2004","journal-title":"Am. J. Hum. Genet."},{"key":"2020013009364812300_ref61","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1016\/j.ajhg.2009.09.011","article-title":"Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature","volume":"85","author":"Morales","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"2020013009364812300_ref62","doi-asserted-by":"crossref","first-page":"1195","DOI":"10.1002\/humu.22374","article-title":"The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18","volume":"34","author":"Aldahmesh","year":"2013","journal-title":"Hum. Mutat."},{"key":"2020013009364812300_ref63","first-page":"16","article-title":"The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy. Orphanet","volume":"8","author":"Peluso","year":"2013","journal-title":"J. Rare Dis."},{"key":"2020013009364812300_ref64","doi-asserted-by":"crossref","first-page":"1485","DOI":"10.1002\/humu.23299","article-title":"Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial, and other systemic features in a three-generation human pedigree","volume":"38","author":"Hendee","year":"2017","journal-title":"Hum. Mutat."},{"key":"2020013009364812300_ref65","doi-asserted-by":"crossref","first-page":"6369","DOI":"10.1167\/iovs.10-5597","article-title":"A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae","volume":"51","author":"Christensen","year":"2010","journal-title":"Invest. Ophth. Vis. Sci."},{"key":"2020013009364812300_ref66","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1136\/bjophthalmol-2012-302367","article-title":"Ectopia lentis et pupillae in four generations caused by novel mutations in the ADAMTSL4 gene","volume":"97","author":"Sharifi","year":"2013","journal-title":"Br. J. Ophthalmol."},{"key":"2020013009364812300_ref67","doi-asserted-by":"crossref","first-page":"3675","DOI":"10.1093\/hmg\/ddy276","article-title":"ADAMTS10-mediated tissue disruption in Weill-Marchesani syndrome","volume":"27","author":"Mularczyk","year":"2018","journal-title":"Hum. Mol. Genet."},{"key":"2020013009364812300_ref68","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1016\/j.matbio.2018.09.004","article-title":"Adamts10 inactivation in mice leads to persistence of ocular microfibrils subsequent to reduced fibrillin-2 cleavage","volume":"77","author":"Wang","year":"2018","journal-title":"Matrix biol."},{"key":"2020013009364812300_ref69","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1186\/s40575-019-0071-6","article-title":"Glaucoma-causing ADAMTS17 mutations are also reproducibly associated with height in two domestic dog breeds: selection for short stature may have contributed to increased prevalence of glaucoma","volume":"6","author":"Jeanes","year":"2019","journal-title":"Canine Genet. Epidemiol."},{"key":"2020013009364812300_ref70","article-title":"Adamts17 is involved in skeletogenesis through modulation of BMP-Smad1\/5\/8 pathway","author":"Oichi","year":"2019","journal-title":"Cell. Mol. Life Sci."},{"key":"2020013009364812300_ref71","doi-asserted-by":"crossref","first-page":"1585","DOI":"10.1242\/bio.019711","article-title":"Adamts18 deletion results in distinct developmental defects and provides a model for congenital disorders of lens, lung, and female reproductive tract development","volume":"5","author":"Ataca","year":"2016","journal-title":"Biol. Open"},{"key":"2020013009364812300_ref72","first-page":"6958","article-title":"Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation","volume":"24","author":"Collin","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"2020013009364812300_ref73","doi-asserted-by":"crossref","first-page":"1119","DOI":"10.1038\/ng.199","article-title":"ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation","volume":"40","author":"Le Goff","year":"2008","journal-title":"Nat. Genet."},{"key":"2020013009364812300_ref74","doi-asserted-by":"crossref","first-page":"2779","DOI":"10.1242\/dev.00505","article-title":"Connective tissue growth factor coordinates chondrogenesis and angiogenesis during skeletal development","volume":"130","author":"Ivkovic","year":"2003","journal-title":"Development"},{"key":"2020013009364812300_ref75","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1007\/s12079-016-0360-8","article-title":"The pivotal role of CCN2 in mammalian palatogenesis","volume":"11","author":"Tarr","year":"2017","journal-title":"J. Cell Commun. Signal."},{"key":"2020013009364812300_ref76","doi-asserted-by":"crossref","first-page":"12817","DOI":"10.1371\/journal.pone.0012817","article-title":"An ADAMTSL2 founder mutation causes Musladin-Lueke syndrome, a heritable disorder of beagle dogs, featuring stiff skin and joint contractures","volume":"5","author":"Bader","year":"2010","journal-title":"PLoS One"},{"key":"2020013009364812300_ref77","doi-asserted-by":"crossref","first-page":"2707","DOI":"10.1096\/fj.201800753RR","article-title":"Impairment of chondrogenesis and microfibrillar network in Adamtsl2 deficiency","volume":"33","author":"Delhon","year":"2019","journal-title":"FASEB J."},{"key":"2020013009364812300_ref78","doi-asserted-by":"crossref","first-page":"961","DOI":"10.1161\/01.RES.0000248426.35019.89","article-title":"The matricellular protein CCN1 is essential for cardiac development","volume":"99","author":"Mo","year":"2006","journal-title":"Circ. Res."},{"key":"2020013009364812300_ref79","doi-asserted-by":"crossref","first-page":"8709","DOI":"10.1128\/MCB.22.24.8709-8720.2002","article-title":"CYR61 (CCN1) is essential for placental development and vascular integrity","volume":"22","author":"Mo","year":"2002","journal-title":"Mol. Cell. Biol."},{"key":"2020013009364812300_ref80","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1002\/jbmr.2308","article-title":"Thrombospondin-1 regulates bone homeostasis through effects on bone matrix integrity and nitric oxide signaling in osteoclasts","volume":"30","author":"Amend","year":"2015","journal-title":"J. Bone Miner. Res."},{"key":"2020013009364812300_ref81","doi-asserted-by":"crossref","first-page":"1096","DOI":"10.1095\/biolreprod.103.023911","article-title":"Adamts-1 is essential for the development and function of the urogenital system","volume":"70","author":"Mittaz","year":"2004","journal-title":"Biol. Reprod."},{"key":"2020013009364812300_ref82","doi-asserted-by":"crossref","first-page":"1806","DOI":"10.1002\/dvdy.22662","article-title":"Partially redundant functions of Adamts1 and Adamts4 in the perinatal development of the renal medulla","volume":"240","author":"Boerboom","year":"2011","journal-title":"Dev. Dyn."},{"key":"2020013009364812300_ref83","doi-asserted-by":"crossref","first-page":"1996","DOI":"10.1002\/ajmg.a.40424","article-title":"A recessive truncating variant in thrombospondin-1 domain containing protein 1 gene THSD1 is the underlying cause of nonimmune hydrops fetalis, congenital cardiac defects, and haemangiomas in four patients from a consanguineous family","volume":"176","author":"Abdelrahman","year":"2018","journal-title":"Am. J. Med. Gen."},{"key":"2020013009364812300_ref84","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1016\/j.devcel.2007.11.018","article-title":"Endocardial Brg1 represses ADAMTS1 to maintain the microenvironment for myocardial morphogenesis","volume":"14","author":"Stankunas","year":"2008","journal-title":"Dev. Cell"},{"key":"2020013009364812300_ref85","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1016\/j.ydbio.2011.06.041","article-title":"Altered versican cleavage in ADAMTS5 deficient mice; a novel etiology of myxomatous valve disease","volume":"357","author":"Dupuis","year":"2011","journal-title":"Dev. Biol."},{"key":"2020013009364812300_ref86","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1038\/nature14269","article-title":"Global genetic analysis in mice unveils central role for cilia in congenital heart disease","volume":"521","author":"Li","year":"2015","journal-title":"Nature"},{"key":"2020013009364812300_ref87","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1016\/j.matbio.2010.01.005","article-title":"Reduced versican cleavage due to Adamts9 haploinsufficiency is associated with cardiac and aortic anomalies","volume":"29","author":"Kern","year":"2010","journal-title":"Matrix biol."}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/advance-article-pdf\/doi\/10.1093\/hmg\/ddz225\/31119054\/ddz225.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/28\/24\/4053\/32291456\/ddz225.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/28\/24\/4053\/32291456\/ddz225.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,1,30]],"date-time":"2020-01-30T09:37:16Z","timestamp":1580377036000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article\/28\/24\/4053\/5584444"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,10,10]]},"references-count":87,"journal-issue":{"issue":"24","published-online":{"date-parts":[[2019,10,10]]},"published-print":{"date-parts":[[2019,12,15]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddz225","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2019,12,15]]},"published":{"date-parts":[[2019,10,10]]}}}