{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T13:28:35Z","timestamp":1790774915560,"version":"4.1.0"},"reference-count":68,"publisher":"The Company of Biologists","issue":"5","license":[{"start":{"date-parts":[[2020,9,3]],"date-time":"2020-09-03T00:00:00Z","timestamp":1599091200000},"content-version":"vor","delay-in-days":1952,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2015,5,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n               <jats:p>Mutations in the secreted glycoprotein ADAMTSL2 cause recessive geleophysic dysplasia (GD) in humans and Musladin\u2013Lueke syndrome (MLS) in dogs. GD is a severe, often lethal, condition presenting with short stature, brachydactyly, stiff skin, joint contractures, tracheal-bronchial stenosis and cardiac valve anomalies, whereas MLS is non-lethal and characterized by short stature and severe skin fibrosis. Although most mutations in fibrillin-1 (FBN1) cause Marfan syndrome (MFS), a microfibril disorder leading to transforming growth factor-\u03b2 (TGF\u03b2) dysregulation, domain-specific FBN1 mutations result in dominant GD. ADAMTSL2 has been previously shown to bind FBN1 and latent TGF\u03b2-binding protein-1 (LTBP1). Here, we investigated mice with targeted Adamtsl2 inactivation as a new model for GD (Adamtsl2\u2212\/\u2212 mice). An intragenic lacZ reporter in these mice showed that ADAMTSL2 was produced exclusively by bronchial smooth muscle cells during embryonic lung development. Adamtsl2\u2212\/\u2212 mice, which died at birth, had severe bronchial epithelial dysplasia with abnormal glycogen-rich inclusions in bronchial epithelium resembling the cellular anomalies described previously in GD. An increase in microfibrils in the bronchial wall was associated with increased FBN2 and microfibril-associated glycoprotein-1 (MAGP1) staining, whereas LTBP1 staining was increased in bronchial epithelium. ADAMTSL2 was shown to bind directly to FBN2 with an affinity comparable to FBN1. The observed extracellular matrix (ECM) alterations were associated with increased bronchial epithelial TGF\u03b2 signaling at 17.5\u2005days of gestation; however, treatment with TGF\u03b2-neutralizing antibody did not correct the epithelial dysplasia. These investigations reveal a new function of ADAMTSL2 in modulating microfibril formation, and a previously unsuspected association with FBN2. Our studies suggest that the bronchial epithelial dysplasia accompanying microfibril dysregulation in Adamtsl2\u2212\/\u2212 mice cannot be reversed by TGF\u03b2 neutralization, and thus might be mediated by other mechanisms.<\/jats:p>","DOI":"10.1242\/dmm.017046","type":"journal-article","created":{"date-parts":[[2015,3,12]],"date-time":"2015-03-12T00:43:02Z","timestamp":1426120982000},"page":"487-499","source":"Crossref","is-referenced-by-count":75,"title":["<i>Adamtsl2<\/i> deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia \u2013 a novel mouse model providing insights into geleophysic dysplasia"],"prefix":"10.1242","volume":"8","author":[{"given":"Dirk","family":"Hubmacher","sequence":"first","affiliation":[{"name":"Department of Biomedical Engineering, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren W.","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Biomedical Engineering, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert P.","family":"Mecham","sequence":"additional","affiliation":[{"name":"Department of Cell Biology and Physiology, Washington University School of Medicine, Saint Louis, MO 63110, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dieter P.","family":"Reinhardt","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Cell Biology and Faculty of Dentistry, McGill University, 3640 University Street, Montreal, Quebec, Canada\u2008H3A 0C7"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suneel S.","family":"Apte","sequence":"additional","affiliation":[{"name":"Department of Biomedical Engineering, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","reference":[{"key":"2021052800084527900_DMM017046C1","doi-asserted-by":"publisher","first-page":"417","DOI":"10.1136\/jmg.2010.087544","article-title":"Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia","volume":"48","author":"Allali","year":"2011","journal-title":"J. Med. Genet."},{"key":"2021052800084527900_DMM017046C2","doi-asserted-by":"publisher","first-page":"275","DOI":"10.1083\/jcb.200105046","article-title":"Regulation of limb patterning by extracellular microfibrils","volume":"154","author":"Arteaga-Solis","year":"2001","journal-title":"J. Cell Biol."},{"key":"2021052800084527900_DMM017046C3","doi-asserted-by":"publisher","first-page":"e12817","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":"2021052800084527900_DMM017046C4","doi-asserted-by":"publisher","first-page":"158","DOI":"10.1242\/jcs.134270","article-title":"Epithelial-mesenchymal status influences how cells deposit fibrillin microfibrils","volume":"127","author":"Baldwin","year":"2014","journal-title":"J. Cell Sci."},{"key":"2021052800084527900_DMM017046C5","doi-asserted-by":"publisher","first-page":"8337","DOI":"10.1167\/iovs.13-13121","article-title":"Nonselective assembly of fibrillin 1 and fibrillin 2 in the rodent ocular zonule and in cultured cells: implications for marfan syndrome","volume":"54","author":"Beene","year":"2013","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"2021052800084527900_DMM017046C6","doi-asserted-by":"publisher","first-page":"2787","DOI":"10.1056\/NEJMoa0706585","article-title":"Angiotensin II blockade and aortic-root dilation in Marfan's syndrome","volume":"358","author":"Brooke","year":"2008","journal-title":"N. Engl. J. Med."},{"key":"2021052800084527900_DMM017046C7","doi-asserted-by":"publisher","first-page":"8016","DOI":"10.1074\/jbc.M511599200","article-title":"Fibrillins 1 and 2 perform partially overlapping functions during aortic development","volume":"281","author":"Carta","year":"2006","journal-title":"J. Biol. Chem."},{"key":"2021052800084527900_DMM017046C8","doi-asserted-by":"publisher","first-page":"26418","DOI":"10.1074\/jbc.M703341200","article-title":"Potential role for heparan sulfate proteoglycans in regulation of transforming growth factor-beta (TGF-beta) by modulating assembly of latent TGF-beta-binding protein-1","volume":"282","author":"Chen","year":"2007","journal-title":"J. Biol. Chem."},{"key":"2021052800084527900_DMM017046C9","doi-asserted-by":"publisher","first-page":"204","DOI":"10.1038\/nm1536","article-title":"Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states","volume":"13","author":"Cohn","year":"2007","journal-title":"Nat. Med."},{"key":"2021052800084527900_DMM017046C10","first-page":"1329","article-title":"Abnormal muscle mechanosignaling triggers cardiomyopathy in mice with Marfan syndrome","volume":"124","author":"Cook","year":"2014","journal-title":"J. Clin. Invest."},{"key":"2021052800084527900_DMM017046C11","doi-asserted-by":"publisher","first-page":"461","DOI":"10.1016\/j.ygeno.2003.08.023","article-title":"Differential expression of fibrillin-3 adds to microfibril variety in human and avian, but not rodent, connective tissues","volume":"83","author":"Corson","year":"2004","journal-title":"Genomics"},{"key":"2021052800084527900_DMM017046C12","doi-asserted-by":"publisher","first-page":"2003","DOI":"10.1016\/j.febslet.2012.05.027","article-title":"Matrix-dependent perturbation of TGFbeta signaling and disease","volume":"586","author":"Doyle","year":"2012","journal-title":"FEBS Lett."},{"key":"2021052800084527900_DMM017046C13","doi-asserted-by":"publisher","first-page":"461","DOI":"10.1167\/iovs.10-5955","article-title":"ADAMTSL4, a secreted glycoprotein widely distributed in the eye, binds fibrillin-1 microfibrils and accelerates microfibril biogenesis","volume":"53","author":"Gabriel","year":"2012","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"2021052800084527900_DMM017046C14","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1179\/146532808X302206","article-title":"Clinical and morphological phenotype of geleophysic dysplasia","volume":"28","author":"Giray","year":"2008","journal-title":"Ann. Trop. Paediatr."},{"key":"2021052800084527900_DMM017046C15","doi-asserted-by":"publisher","first-page":"117","DOI":"10.1126\/science.1124287","article-title":"Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome","volume":"312","author":"Habashi","year":"2006","journal-title":"Science"},{"key":"2021052800084527900_DMM017046C16","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1126\/science.1192152","article-title":"Angiotensin II type 2 receptor signaling attenuates aortic aneurysm in mice through ERK antagonism","volume":"332","author":"Habashi","year":"2011","journal-title":"Science"},{"key":"2021052800084527900_DMM017046C17","first-page":"22","article-title":"Punctin, a novel ADAMTS-like molecule (ADAMTSL-1) in extracellular matrix","volume":"22","author":"Hirohata","year":"2002","journal-title":"J. Biol. Chem."},{"key":"2021052800084527900_DMM017046C18","doi-asserted-by":"publisher","first-page":"358","DOI":"10.1126\/science.1192149","article-title":"Noncanonical TGFbeta signaling contributes to aortic aneurysm progression in Marfan syndrome mice","volume":"332","author":"Holm","year":"2011","journal-title":"Science"},{"key":"2021052800084527900_DMM017046C19","doi-asserted-by":"publisher","first-page":"482","DOI":"10.1016\/j.aanat.2012.03.010","article-title":"Development of the oxytalan fiber system in the rat molar periodontal ligament evaluated by light- and electron-microscopic analyses","volume":"194","author":"Inoue","year":"2012","journal-title":"Ann. Anat."},{"key":"2021052800084527900_DMM017046C20","doi-asserted-by":"publisher","first-page":"2750","DOI":"10.1074\/jbc.M209256200","article-title":"Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein","volume":"278","author":"Isogai","year":"2003","journal-title":"J. Biol. Chem."},{"key":"2021052800084527900_DMM017046C21","doi-asserted-by":"publisher","first-page":"39661","DOI":"10.1074\/jbc.M104533200","article-title":"Protein interaction studies of MAGP-1 with tropoelastin and fibrillin-1","volume":"276","author":"Jensen","year":"2001","journal-title":"J. Biol. Chem."},{"key":"2021052800084527900_DMM017046C22","doi-asserted-by":"publisher","first-page":"441","DOI":"10.1177\/39.4.2005373","article-title":"Extraction of extendable beaded structures and their identification as fibrillin-containing extracellular matrix microfibrils","volume":"39","author":"Keene","year":"1991","journal-title":"J. Histochem. Cytochem."},{"key":"2021052800084527900_DMM017046C23","doi-asserted-by":"publisher","first-page":"2696","DOI":"10.1242\/jcs.029819","article-title":"Fibrillin-1 microfibril deposition is dependent on fibronectin assembly","volume":"121","author":"Kinsey","year":"2008","journal-title":"J. Cell Sci."},{"key":"2021052800084527900_DMM017046C24","doi-asserted-by":"publisher","first-page":"431","DOI":"10.1016\/j.matbio.2007.03.003","article-title":"ADAMTS-like 2 (ADAMTSL2) is a secreted glycoprotein that is widely expressed during mouse embryogenesis and is regulated during skeletal myogenesis","volume":"26","author":"Koo","year":"2007","journal-title":"Matrix Biol."},{"key":"2021052800084527900_DMM017046C25","doi-asserted-by":"publisher","first-page":"17156","DOI":"10.1074\/jbc.M111.231571","article-title":"ADAMTS10 protein interacts with Fibrillin-1 and promotes its deposition in extracellular matrix of cultured fibroblasts","volume":"286","author":"Kutz","year":"2011","journal-title":"J. Biol. Chem."},{"key":"2021052800084527900_DMM017046C26","first-page":"418","article-title":"Genetic and molecular aspects of acromelic dysplasia","volume":"6","author":"Le Goff","year":"2009","journal-title":"Pediatr. Endocrinol. Rev."},{"key":"2021052800084527900_DMM017046C27","doi-asserted-by":"publisher","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":"2021052800084527900_DMM017046C28","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1016\/j.ajhg.2011.05.012","article-title":"Mutations in the TGFbeta binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias","volume":"89","author":"Le Goff","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"2021052800084527900_DMM017046C29","doi-asserted-by":"publisher","first-page":"915","DOI":"10.1002\/art.20053","article-title":"Mutant fibrillin 1 from tight skin mice increases extracellular matrix incorporation of microfibril-associated glycoprotein 2 and type I collagen","volume":"50","author":"Lemaire","year":"2004","journal-title":"Arthritis Rheum."},{"key":"2021052800084527900_DMM017046C30","doi-asserted-by":"publisher","first-page":"50795","DOI":"10.1074\/jbc.M210611200","article-title":"Homo- and heterotypic fibrillin-1 and -2 interactions constitute the basis for the assembly of microfibrils","volume":"277","author":"Lin","year":"2002","journal-title":"J. Biol. Chem."},{"key":"2021052800084527900_DMM017046C31","doi-asserted-by":"publisher","first-page":"87","DOI":"10.3109\/03008209509028396","article-title":"Fibrillin-1 and fibrillin-2 show temporal and tissue-specific regulation of expression in developing elastic tissues","volume":"31","author":"Mariencheck","year":"1995","journal-title":"Connect. Tissue Res."},{"key":"2021052800084527900_DMM017046C32","doi-asserted-by":"publisher","first-page":"3006","DOI":"10.1242\/jcs.073437","article-title":"Assembly of fibrillin microfibrils governs extracellular deposition of latent TGF beta","volume":"123","author":"Massam-Wu","year":"2010","journal-title":"J. Cell Sci."},{"key":"2021052800084527900_DMM017046C33","doi-asserted-by":"publisher","first-page":"314","DOI":"10.1016\/j.gep.2009.02.006","article-title":"Adamts5, the gene encoding a proteoglycan-degrading metalloprotease, is expressed by specific cell lineages during mouse embryonic development and in adult tissues","volume":"9","author":"McCulloch","year":"2009","journal-title":"Gene Expr. Patterns"},{"key":"2021052800084527900_DMM017046C34","doi-asserted-by":"publisher","first-page":"435","DOI":"10.1165\/rcmb.2007-0281OC","article-title":"Arg-Gly-Asp-containing domains of fibrillins-1 and -2 distinctly regulate lung fibroblast migration","volume":"38","author":"McGowan","year":"2008","journal-title":"Am. J. Respir. Cell Mol. Biol."},{"key":"2021052800084527900_DMM017046C35","doi-asserted-by":"publisher","first-page":"109","DOI":"10.1007\/s00335-011-9365-z","article-title":"DNA testing and domestic dogs","volume":"23","author":"Mellersh","year":"2012","journal-title":"Mamm. Genome"},{"key":"2021052800084527900_DMM017046C36","doi-asserted-by":"publisher","first-page":"L151","DOI":"10.1152\/ajplung.00389.2006","article-title":"TGF-beta-neutralizing antibodies improve pulmonary alveologenesis and vasculogenesis in the injured newborn lung","volume":"293","author":"Nakanishi","year":"2007","journal-title":"Am. J. Physiol. Lung Cell. Mol. Physiol."},{"key":"2021052800084527900_DMM017046C37","doi-asserted-by":"publisher","first-page":"407","DOI":"10.1038\/ng1116","article-title":"Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome","volume":"33","author":"Neptune","year":"2003","journal-title":"Nat. Genet."},{"key":"2021052800084527900_DMM017046C38","doi-asserted-by":"publisher","first-page":"34126","DOI":"10.1074\/jbc.M110.125328","article-title":"Extracellular microfibrils control osteoblast-supported osteoclastogenesis by restricting TGF{beta} stimulation of RANKL production","volume":"285","author":"Nistala","year":"2010","journal-title":"J. Biol. Chem."},{"key":"2021052800084527900_DMM017046C39","doi-asserted-by":"publisher","first-page":"1107","DOI":"10.1083\/jcb.201003089","article-title":"Fibrillin-1 and -2 differentially modulate endogenous TGF-beta and BMP bioavailability during bone formation","volume":"190","author":"Nistala","year":"2010","journal-title":"J. Cell Biol."},{"key":"2021052800084527900_DMM017046C40","doi-asserted-by":"publisher","first-page":"818","DOI":"10.1080\/01443610500336058","article-title":"Geleophysic dysplasia: a patient with a severe form of the disorder","volume":"25","author":"Panagopoulos","year":"2005","journal-title":"J. Obstet. Gynaecol."},{"key":"2021052800084527900_DMM017046C41","doi-asserted-by":"publisher","first-page":"653","DOI":"10.1086\/315285","article-title":"Maternal antibody transfer in baboons and mice vaccinated with a group B streptococcal polysaccharide conjugate","volume":"181","author":"Paoletti","year":"2000","journal-title":"J. Infect. Dis."},{"key":"2021052800084527900_DMM017046C42","doi-asserted-by":"publisher","first-page":"35044","DOI":"10.1074\/jbc.M206363200","article-title":"Microfibril-associated glycoprotein-2 interacts with fibrillin-1 and fibrillin-2 suggesting a role for MAGP-2 in elastic fiber assembly","volume":"277","author":"Penner","year":"2002","journal-title":"J. Biol. Chem."},{"key":"2021052800084527900_DMM017046C43","doi-asserted-by":"publisher","first-page":"328","DOI":"10.1002\/bdrb.20201","article-title":"An interspecies comparison of placental antibody transfer: new insights into developmental toxicity testing of monoclonal antibodies","volume":"86","author":"Pentsuk","year":"2009","journal-title":"Birth Defects Res. B Dev. Reprod. Toxicol."},{"key":"2021052800084527900_DMM017046C44","first-page":"87","article-title":"Ocular pathology in bovine Marfan's syndrome with demonstration of altered fibrillin immunoreactivity in explanted ciliary body cells","volume":"75","author":"Pessier","year":"1996","journal-title":"Lab. Invest."},{"key":"2021052800084527900_DMM017046C45","doi-asserted-by":"publisher","first-page":"e33560","DOI":"10.1371\/journal.pone.0033560","article-title":"The evolution of extracellular fibrillins and their functional domains","volume":"7","author":"Piha-Gossack","year":"2012","journal-title":"PLoS ONE"},{"key":"2021052800084527900_DMM017046C46","doi-asserted-by":"publisher","first-page":"50","DOI":"10.1002\/(SICI)1096-8628(19960503)63:1&lt;50::AID-AJMG11&gt;3.0.CO;2-T","article-title":"Clinical and ultrastructural findings in three patients with geleophysic dysplasia","volume":"63","author":"Pontz","year":"1996","journal-title":"Am. J. Med. Genet."},{"key":"2021052800084527900_DMM017046C47","doi-asserted-by":"publisher","first-page":"1746","DOI":"10.1128\/CVI.00455-12","article-title":"Acquisition of maternal antibodies both from the placenta and by lactation protects mouse offspring from Yersinia pestis challenge","volume":"19","author":"Qi","year":"2012","journal-title":"Clin. Vaccine Immunol."},{"key":"2021052800084527900_DMM017046C48","doi-asserted-by":"publisher","first-page":"769","DOI":"10.1136\/jmg.2005.039669","article-title":"The molecular genetics of Marfan syndrome and related disorders","volume":"43","author":"Robinson","year":"2006","journal-title":"J. Med. Genet."},{"key":"2021052800084527900_DMM017046C49","doi-asserted-by":"publisher","first-page":"846","DOI":"10.1091\/mbc.E08-08-0830","article-title":"Fibrillin assembly requires fibronectin","volume":"20","author":"Sabatier","year":"2009","journal-title":"Mol. Biol. Cell"},{"key":"2021052800084527900_DMM017046C50","doi-asserted-by":"publisher","first-page":"38602","DOI":"10.1074\/jbc.M111.243451","article-title":"ADAMTSL6beta protein rescues fibrillin-1 microfibril disorder in a Marfan syndrome mouse model through the promotion of fibrillin-1 assembly","volume":"286","author":"Saito","year":"2011","journal-title":"J. Biol. Chem."},{"key":"2021052800084527900_DMM017046C51","doi-asserted-by":"publisher","first-page":"4916","DOI":"10.1074\/jbc.271.9.4916","article-title":"Cell-type specific recognition of RGD- and non-RGD-containing cell binding domains in fibrillin-1","volume":"271","author":"Sakamoto","year":"1996","journal-title":"J. Biol. Chem."},{"key":"2021052800084527900_DMM017046C52","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1002\/(SICI)1096-8628(19971003)72:1&lt;85::AID-AJMG18&gt;3.0.CO;2-Q","article-title":"Patients with geleophysic dysplasia are not always geleophysic","volume":"72","author":"Santolaya","year":"1997","journal-title":"Am. J. Med. Genet."},{"key":"2021052800084527900_DMM017046C53","doi-asserted-by":"publisher","first-page":"671","DOI":"10.1016\/S0945-053X(00)00115-3","article-title":"Revised genomic structure of the human MAGP1 gene and identification of alternate transcripts in human and mouse tissues","volume":"19","author":"Segade","year":"2000","journal-title":"Matrix Biol."},{"key":"2021052800084527900_DMM017046C54","doi-asserted-by":"publisher","first-page":"11050","DOI":"10.1074\/jbc.M110347200","article-title":"Identification of a matrix-binding domain in MAGP1 and MAGP2 and intracellular localization of alternative splice forms","volume":"277","author":"Segade","year":"2002","journal-title":"J. Biol. Chem."},{"key":"2021052800084527900_DMM017046C55","doi-asserted-by":"publisher","first-page":"13874","DOI":"10.1074\/jbc.M707820200","article-title":"Targeting of bone morphogenetic protein growth factor complexes to fibrillin","volume":"283","author":"Sengle","year":"2008","journal-title":"J. Biol. Chem."},{"key":"2021052800084527900_DMM017046C56","doi-asserted-by":"publisher","first-page":"2504","DOI":"10.1167\/iovs.13-11619","article-title":"Development, composition, and structural arrangements of the ciliary zonule of the mouse","volume":"54","author":"Shi","year":"2013","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"2021052800084527900_DMM017046C57","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1016\/S0022-3476(05)80534-7","article-title":"Geleophysic dysplasia: a storage disorder affecting the skin, bone, liver, heart, and trachea","volume":"117","author":"Shohat","year":"1990","journal-title":"J. Pediatr."},{"key":"2021052800084527900_DMM017046C58","doi-asserted-by":"publisher","first-page":"487","DOI":"10.1002\/ajmg.1320190310","article-title":"Geleophysic dysplasia","volume":"19","author":"Spranger","year":"1984","journal-title":"Am. J. Med. Genet."},{"key":"2021052800084527900_DMM017046C59","doi-asserted-by":"publisher","first-page":"875","DOI":"10.1177\/44.8.8756760","article-title":"Latent transforming growth factor-beta 1 and its binding protein are components of extracellular matrix microfibrils","volume":"44","author":"Taipale","year":"1996","journal-title":"J. Histochem. Cytochem."},{"key":"2021052800084527900_DMM017046C60","doi-asserted-by":"publisher","first-page":"36035","DOI":"10.1074\/jbc.M104985200","article-title":"Interactions of fibrillin-1 with heparin\/heparan sulfate, implications for microfibrillar assembly","volume":"276","author":"Tiedemann","year":"2001","journal-title":"J. Biol. Chem."},{"key":"2021052800084527900_DMM017046C61","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1076\/1381-6810(200003)2111-IFT009","article-title":"Microfibril abnormalities of the lens capsule in patients with Marfan syndrome and ectopia lentis","volume":"21","author":"Traboulsi","year":"2000","journal-title":"Ophthalmic Genet."},{"key":"2021052800084527900_DMM017046C62","doi-asserted-by":"publisher","first-page":"4372","DOI":"10.1021\/bi002738z","article-title":"Posttranslational modifications of microfibril associated glycoprotein-1 (MAGP-1)","volume":"40","author":"Trask","year":"2001","journal-title":"Biochemistry"},{"key":"2021052800084527900_DMM017046C63","doi-asserted-by":"publisher","first-page":"25533","DOI":"10.1074\/jbc.M709962200","article-title":"Deficiency in microfibril-associated glycoprotein-1 leads to complex phenotypes in multiple organ systems","volume":"283","author":"Weinbaum","year":"2008","journal-title":"J. Biol. Chem."},{"key":"2021052800084527900_DMM017046C64","doi-asserted-by":"publisher","first-page":"23045","DOI":"10.1074\/jbc.M402656200","article-title":"Identification of a major microfibril-associated glycoprotein-1-binding domain in fibrillin-2","volume":"279","author":"Werneck","year":"2004","journal-title":"J. Biol. Chem."},{"key":"2021052800084527900_DMM017046C65","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1001\/archopht.1995.01100010105028","article-title":"Immunohistochemical localization of fibrillin in human ocular tissues. Relevance to the Marfan syndrome","volume":"113","author":"Wheatley","year":"1995","journal-title":"Arch. Ophthalmol."},{"key":"2021052800084527900_DMM017046C66","doi-asserted-by":"publisher","first-page":"855","DOI":"10.1083\/jcb.124.5.855","article-title":"Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices","volume":"124","author":"Zhang","year":"1994","journal-title":"J. Cell Biol."},{"key":"2021052800084527900_DMM017046C67","doi-asserted-by":"publisher","first-page":"1165","DOI":"10.1083\/jcb.129.4.1165","article-title":"Developmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrils","volume":"129","author":"Zhang","year":"1995","journal-title":"J. Cell Biol."},{"key":"2021052800084527900_DMM017046C68","doi-asserted-by":"publisher","first-page":"3828","DOI":"10.1002\/jcp.24094","article-title":"Specificity of latent TGF-beta binding protein (LTBP) incorporation into matrix: role of fibrillins and fibronectin","volume":"227","author":"Zilberberg","year":"2012","journal-title":"J. Cell. Physiol."}],"container-title":["Disease Models &amp; Mechanisms"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/journals.biologists.com\/dmm\/article-pdf\/8\/5\/487\/2075293\/dmm017046.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/journals.biologists.com\/dmm\/article-pdf\/doi\/10.1242\/dmm.017046\/2032381\/dmm_017046.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"http:\/\/journals.biologists.com\/dmm\/article-pdf\/8\/5\/487\/2075293\/dmm017046.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,5,28]],"date-time":"2021-05-28T01:57:32Z","timestamp":1622167052000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.biologists.com\/dmm\/article\/8\/5\/487\/3688\/Adamtsl2-deletion-results-in-bronchial-fibrillin"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,5,1]]},"references-count":68,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2015,5,1]]}},"URL":"https:\/\/doi.org\/10.1242\/dmm.017046","relation":{},"ISSN":["1754-8411","1754-8403"],"issn-type":[{"value":"1754-8411","type":"electronic"},{"value":"1754-8403","type":"print"}],"subject":[],"published":{"date-parts":[[2015,5,1]]}}}