{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T03:53:57Z","timestamp":1792641237682,"version":"4.5.0"},"reference-count":43,"publisher":"Oxford University Press (OUP)","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2015,6,1]]},"DOI":"10.1093\/hmg\/ddv053","type":"journal-article","created":{"date-parts":[[2015,2,11]],"date-time":"2015-02-11T05:40:44Z","timestamp":1423633244000},"page":"3038-3049","source":"Crossref","is-referenced-by-count":50,"title":["Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta"],"prefix":"10.1093","volume":"24","author":[{"given":"Mathilde","family":"Huckert","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinne","family":"Stoetzel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Supawich","family":"Morkmued","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginie","family":"Laugel-Haushalter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V\u00e9ronique","family":"Geoffroy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean","family":"Muller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7ois","family":"Clauss","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Megana K.","family":"Prasad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9ric","family":"Obry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean Louis","family":"Raymond","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marzena","family":"Switala","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yves","family":"Alembik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"Soskin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Mathieu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph","family":"Hemmerl\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Luc","family":"Weickert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Branka Brukner","family":"Dabovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel B.","family":"Rifkin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annelies","family":"Dheedene","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eveline","family":"Boudin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oana","family":"Caluseriu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Claude","family":"Cholette","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ross","family":"Mcleod","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reynaldo","family":"Antequera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Paule","family":"Gell\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Louis","family":"Coeuriot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louis-Fr\u00e9d\u00e9ric","family":"Jacquelin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Bailleul-Forestier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-C\u00e9cile","family":"Mani\u00e8re","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wim","family":"Van Hul","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Debora","family":"Bertola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"Doll\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"Verloes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Geert","family":"Mortier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00e9l\u00e8ne","family":"Dollfus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agn\u00e8s","family":"Bloch-Zupan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2015,2,10]]},"reference":[{"key":"key\n\t\t\t\t20170503080245_DDV053C1","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1186\/1750-1172-2-17","article-title":"Amelogenesis imperfecta","volume":"2","author":"Crawford","year":"2007","journal-title":"Orphanet J. Rare Dis."},{"key":"key\n\t\t\t\t20170503080245_DDV053C2","volume-title":"Dento\/Oro\/Craniofacial Anomalies and Genetics","author":"Bloch-Zupan","year":"2012"},{"key":"key\n\t\t\t\t20170503080245_DDV053C3","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1111\/j.1399-0004.1996.tb04315.x","article-title":"A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly","volume":"49","author":"Verloes","year":"1996","journal-title":"Clin. Genet."},{"key":"key\n\t\t\t\t20170503080245_DDV053C4","doi-asserted-by":"crossref","first-page":"532","DOI":"10.1002\/ajmg.a.32661","article-title":"Brachyolmia with amelogenesis imperfecta: further evidence of a distinct entity","volume":"149A","author":"Bertola","year":"2009","journal-title":"Am. J. Med. Genet. A"},{"key":"key\n\t\t\t\t20170503080245_DDV053C5","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1016\/j.ajhg.2009.03.007","article-title":"Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3","volume":"84","author":"Noor","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170503080245_DDV053C6","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1186\/1756-0500-6-113","article-title":"Molars and incisors: show your microarray IDs","volume":"6","author":"Laugel-Haushalter","year":"2013","journal-title":"BMC Res. Notes"},{"key":"key\n\t\t\t\t20170503080245_DDV053C7","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1677\/joe.0.1750129","article-title":"Bone defects in latent TGF-beta binding protein (Ltbp)-3 null mice; a role for Ltbp in TGF-beta presentation","volume":"175","author":"Dabovic","year":"2002","journal-title":"J. Endocrinol."},{"key":"key\n\t\t\t\t20170503080245_DDV053C8","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1083\/jcb.200111080","article-title":"Bone abnormalities in latent TGF-[beta] binding protein (Ltbp)-3-null mice indicate a role for Ltbp-3 in modulating TGF-[beta] bioavailability","volume":"156","author":"Dabovic","year":"2002","journal-title":"J. Cell Biol."},{"key":"key\n\t\t\t\t20170503080245_DDV053C9","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/j.bone.2005.02.021","article-title":"Osteopetrosis-like phenotype in latent TGF-beta binding protein 3 deficient mice","volume":"37","author":"Dabovic","year":"2005","journal-title":"Bone"},{"key":"key\n\t\t\t\t20170503080245_DDV053C10","doi-asserted-by":"crossref","first-page":"638","DOI":"10.1016\/j.gde.2011.08.009","article-title":"Genes into geometry: imaging for mouse development in 3D","volume":"21","author":"Nieman","year":"2011","journal-title":"Curr. Opin. Genet. Dev."},{"key":"key\n\t\t\t\t20170503080245_DDV053C11","doi-asserted-by":"crossref","first-page":"781","DOI":"10.1016\/j.ejcb.2007.03.005","article-title":"TGF-beta superfamily signaling is essential for tooth and hair morphogenesis and differentiation","volume":"86","author":"Klopcic","year":"2007","journal-title":"Eur. J. Cell Biol."},{"key":"key\n\t\t\t\t20170503080245_DDV053C12","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1242\/jcs.00229","article-title":"Making sense of latent TGFbeta activation","volume":"116","author":"Annes","year":"2003","journal-title":"J. Cell Sci."},{"key":"key\n\t\t\t\t20170503080245_DDV053C13","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1080\/10408360490460933","article-title":"Latent TGF-beta binding proteins: extracellular matrix association and roles in TGF-beta activation","volume":"41","author":"Hyytiainen","year":"2004","journal-title":"Crit. Rev. Clin. Lab. Sci."},{"key":"key\n\t\t\t\t20170503080245_DDV053C14","doi-asserted-by":"crossref","first-page":"3457","DOI":"10.1242\/jcs.115.17.3457","article-title":"Secretion of human latent TGF-beta-binding protein-3 (LTBP-3) is dependent on co-expression of TGF-beta","volume":"115","author":"Penttinen","year":"2002","journal-title":"J. Cell Sci."},{"key":"key\n\t\t\t\t20170503080245_DDV053C15","doi-asserted-by":"crossref","first-page":"259","DOI":"10.2334\/josnusd1959.32.259","article-title":"Ultrastructural differentiation in the distal ends of ameloblasts from the presecretory zone to the early secretory zone","volume":"32","author":"Inage","year":"1990","journal-title":"J. Nihon Univ. Sch. Dent."},{"key":"key\n\t\t\t\t20170503080245_DDV053C16","first-page":"21","article-title":"In situ hybridization analysis of transforming growth factor-beta 1 RNA expression during mouse tooth development","volume":"3","author":"Zhu","year":"2000","journal-title":"Chin. J. Dent. Res."},{"key":"key\n\t\t\t\t20170503080245_DDV053C17","first-page":"17","article-title":"Immunohistochemistry and in situ hybridization investigation of transforming growth factor-beta: during odontoblast and ameloblast differentiation","volume":"1","author":"Fan","year":"1998","journal-title":"Chin. J. Dent. Res."},{"key":"key\n\t\t\t\t20170503080245_DDV053C18","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1111\/eos.12056","article-title":"Expression of Clu and Tgfb1 during murine tooth development: effects of in-vivo transfection with anti-miR-214","volume":"121","author":"Khan","year":"2013","journal-title":"Eur. J. Oral Sci."},{"issue":"(Suppl 1)","key":"key\n\t\t\t\t20170503080245_DDV053C19","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1111\/j.1600-0722.2006.00276.x","article-title":"Overexpression of transforming growth factor-beta1 in teeth results in detachment of ameloblasts and enamel defects","volume":"114","author":"Haruyama","year":"2006","journal-title":"Eur. J. Oral Sci."},{"key":"key\n\t\t\t\t20170503080245_DDV053C20","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1002\/ar.20901","article-title":"TGF-beta1 and TGFBR1 are expressed in ameloblasts and promote MMP20 expression","volume":"292","author":"Gao","year":"2009","journal-title":"Anat. Rec. (Hoboken)"},{"key":"key\n\t\t\t\t20170503080245_DDV053C21","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1111\/j.1600-0722.2009.00612.x","article-title":"Transforming growth factor-beta1 expression is up-regulated in maturation-stage enamel organ and may induce ameloblast apoptosis","volume":"117","author":"Tsuchiya","year":"2009","journal-title":"Eur. J. Oral Sci"},{"key":"key\n\t\t\t\t20170503080245_DDV053C22","doi-asserted-by":"crossref","first-page":"1022","DOI":"10.1177\/0022034514545629","article-title":"Fluoride Affects Enamel Protein Content via TGF-beta1-mediated KLK4 Inhibition","volume":"93","author":"Suzuki","year":"2014","journal-title":"J. Dent. Res."},{"key":"key\n\t\t\t\t20170503080245_DDV053C23","doi-asserted-by":"crossref","first-page":"e82267","DOI":"10.1371\/journal.pone.0082267","article-title":"TGF-ss regulates enamel mineralization and maturation through KLK4 expression","volume":"8","author":"Cho","year":"2013","journal-title":"PLoS One"},{"key":"key\n\t\t\t\t20170503080245_DDV053C24","doi-asserted-by":"crossref","first-page":"1011","DOI":"10.1177\/0022034513504783","article-title":"Polarity of mature human odontoblasts","volume":"92","author":"Tjaderhane","year":"2013","journal-title":"J. Dent. Res."},{"key":"key\n\t\t\t\t20170503080245_DDV053C25","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1111\/j.1600-0722.2010.00722.x","article-title":"Gene expression and dental enamel structure in developing mouse incisor","volume":"118","author":"Sehic","year":"2010","journal-title":"Eur. J. Oral Sci."},{"key":"key\n\t\t\t\t20170503080245_DDV053C26","doi-asserted-by":"crossref","first-page":"e35200","DOI":"10.1371\/journal.pone.0035200","article-title":"Targeted overexpression of amelotin disrupts the microstructure of dental enamel","volume":"7","author":"Lacruz","year":"2012","journal-title":"PLoS One"},{"key":"key\n\t\t\t\t20170503080245_DDV053C27","doi-asserted-by":"crossref","first-page":"240","DOI":"10.3389\/fphys.2014.00240","article-title":"Kallikrein-related peptidase-4 (KLK4): role in enamel formation and revelations from ablated mice","volume":"5","author":"Bartlett","year":"2014","journal-title":"Front. Physiol."},{"key":"key\n\t\t\t\t20170503080245_DDV053C28","doi-asserted-by":"crossref","first-page":"679","DOI":"10.1016\/j.bone.2008.06.016","article-title":"Latent TGF-beta binding proteins (LTBPs)-1 and -3 coordinate proliferation and osteogenic differentiation of human mesenchymal stem cells","volume":"43","author":"Koli","year":"2008","journal-title":"Bone"},{"key":"key\n\t\t\t\t20170503080245_DDV053C29","first-page":"RA164","article-title":"Transforming growth factor beta1, bone connection","volume":"12","author":"Kanaan","year":"2006","journal-title":"Med. Sci. Monit."},{"key":"key\n\t\t\t\t20170503080245_DDV053C30","article-title":"22 TGF-\u03b2 Family Signaling in Skeletal Development, Maintenance, and Disease","volume-title":"The TGF-Beta Family","author":"Alliston","year":"2008"},{"key":"key\n\t\t\t\t20170503080245_DDV053C31","doi-asserted-by":"crossref","first-page":"1635","DOI":"10.1002\/ajmg.a.36502","article-title":"Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course","volume":"164","author":"Grigelioniene","year":"2014","journal-title":"Am. J. Med. Genet. A"},{"key":"key\n\t\t\t\t20170503080245_DDV053C32","doi-asserted-by":"crossref","first-page":"1381","DOI":"10.1002\/humu.22377","article-title":"Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations","volume":"34","author":"Iida","year":"2013","journal-title":"Hum. Mutat."},{"key":"key\n\t\t\t\t20170503080245_DDV053C33","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/j.yjmcc.2012.10.016","article-title":"TRPV4 channels mediate cardiac fibroblast differentiation by integrating mechanical and soluble signals","volume":"54","author":"Adapala","year":"2013","journal-title":"J. Mol. Cell. Cardiol."},{"key":"key\n\t\t\t\t20170503080245_DDV053C34","doi-asserted-by":"crossref","first-page":"R49","DOI":"10.1186\/ar3762","article-title":"Altered responsiveness to TGF-beta results in reduced Papss2 expression and alterations in the biomechanical properties of mouse articular cartilage","volume":"14","author":"Ramaswamy","year":"2012","journal-title":"Arthritis Res. Ther."},{"key":"key\n\t\t\t\t20170503080245_DDV053C35","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1016\/S0002-9440(10)62986-0","article-title":"Lung alveolar septation defects in Ltbp-3-null mice","volume":"167","author":"Colarossi","year":"2005","journal-title":"Am. J. Pathol."},{"key":"key\n\t\t\t\t20170503080245_DDV053C36","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1002\/jcp.10296","article-title":"Growth retardation as well as spleen and thymus involution in latent TGF-beta binding protein (Ltbp)-3 null mice","volume":"196","author":"Chen","year":"2003","journal-title":"J. Cell. Physiol."},{"key":"key\n\t\t\t\t20170503080245_DDV053C37","doi-asserted-by":"crossref","first-page":"1393","DOI":"10.1002\/cne.21621","article-title":"Expression of latent transforming growth factor beta binding proteins in the rat brain","volume":"507","author":"Dobolyi","year":"2008","journal-title":"J. Comp. Neurol."},{"key":"key\n\t\t\t\t20170503080245_DDV053C38","doi-asserted-by":"crossref","first-page":"313","DOI":"10.3389\/fphys.2014.00313","article-title":"Analysis of enamel development using murine model systems: approaches and limitations","volume":"5","author":"Pugach","year":"2014","journal-title":"Front. Physiol."},{"key":"key\n\t\t\t\t20170503080245_DDV053C39","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1600-0722.2007.00504.x","article-title":"Mouse models of tooth abnormalities","volume":"116","author":"Fleischmannova","year":"2008","journal-title":"Eur. J. Oral Sci."},{"key":"key\n\t\t\t\t20170503080245_DDV053C40","doi-asserted-by":"crossref","DOI":"10.7717\/peerj.796","article-title":"VaRank: a simple and powerful tool for ranking genetic variants","author":"Geoffroy","year":"2015","journal-title":"PeerJ"},{"key":"key\n\t\t\t\t20170503080245_DDV053C41","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1136\/jmedgenet-2012-100875","article-title":"Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alstrom syndromes","volume":"49","author":"Redin","year":"2012","journal-title":"J. Med. Genet."},{"key":"key\n\t\t\t\t20170503080245_DDV053C42","doi-asserted-by":"crossref","first-page":"773","DOI":"10.1016\/j.ajhg.2011.11.002","article-title":"Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects","volume":"89","author":"Bloch-Zupan","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"key\n\t\t\t\t20170503080245_DDV053C43","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1159\/000342833","article-title":"From the transcription of genes involved in ectodermal dysplasias to the understanding of associated dental anomalies","volume":"3","author":"Laugel-Haushalter","year":"2012","journal-title":"Mol. Syndromol."}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/24\/11\/3038\/14143160\/ddv053.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,29]],"date-time":"2022-04-29T07:37:15Z","timestamp":1651217835000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article-lookup\/doi\/10.1093\/hmg\/ddv053"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,2,10]]},"references-count":43,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2015,2,10]]},"published-print":{"date-parts":[[2015,6,1]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddv053","relation":{},"ISSN":["1460-2083","0964-6906"],"issn-type":[{"value":"1460-2083","type":"electronic"},{"value":"0964-6906","type":"print"}],"subject":[],"published":{"date-parts":[[2015,2,10]]}}}