{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T19:22:34Z","timestamp":1790709754661,"version":"4.1.0"},"reference-count":20,"publisher":"Hindawi Limited","issue":"8","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":1190,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum. Mutat."],"published-print":{"date-parts":[[2012,8]]},"DOI":"10.1002\/humu.22105","type":"journal-article","created":{"date-parts":[[2012,4,26]],"date-time":"2012-04-26T20:29:54Z","timestamp":1335472194000},"page":"1182-1187","source":"Crossref","is-referenced-by-count":112,"title":["LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix"],"prefix":"10.1155","volume":"33","author":[{"given":"Ramona","family":"Haji-Seyed-Javadi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sahar","family":"Jelodari-Mamaghani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seyed Hassan","family":"Paylakhi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shahin","family":"Yazdani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naveed","family":"Nilforushan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian-Bing","family":"Fan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brandy","family":"Klotzle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad Jafar","family":"Mahmoudi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad Jafar","family":"Ebrahimian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noori","family":"Chelich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ehsan","family":"Taghiabadi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kambiz","family":"Kamyab","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Boileau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Coro","family":"Paisan-Ruiz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mostafa","family":"Ronaghi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elahe","family":"Elahi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"98","published-online":{"date-parts":[[2012,5,29]]},"reference":[{"key":"10.1002\/humu.22105-BIB1|cit1","doi-asserted-by":"crossref","first-page":"664","DOI":"10.1016\/j.ajhg.2009.03.017","article-title":"Null mutations in LTBP2 cause primary congenital glaucoma","volume":"84","author":"Ali","year":"2009","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22105-BIB2|cit2","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1038\/ejhg.2010.181","article-title":"LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma\/Gypsy founder population","volume":"19","author":"Azmanov","year":"2011","journal-title":"Eur J Hum Genet"},{"key":"10.1002\/humu.22105-BIB3|cit3","doi-asserted-by":"crossref","first-page":"1049","DOI":"10.7326\/0003-4819-51-5-1049","article-title":"Marfan's syndrome and the Weill-Marchesani syndrome in the S. family","volume":"51","author":"Bowers","year":"1959","journal-title":"Ann Intern Med"},{"key":"10.1002\/humu.22105-BIB4|cit4","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":"10.1002\/humu.22105-BIB5|cit5","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1038\/ejhg.2010.11","article-title":"LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma","volume":"18","author":"Desir","year":"2010","journal-title":"Eur J Hum Genet"},{"key":"10.1002\/humu.22105-BIB6|cit6","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1097\/ICU.0b013e3282f29f01","article-title":"Pathophysiology of zonular diseases","volume":"19","author":"Dureau","year":"2008","journal-title":"Curr Opin Ophthalmol"},{"key":"10.1002\/humu.22105-BIB7|cit7","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1002\/ajmg.a.20289","article-title":"Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome","volume":"123A","author":"Faivre","year":"2003a","journal-title":"Am J Med Genet A"},{"key":"10.1002\/humu.22105-BIB8|cit8","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1136\/jmg.40.1.34","article-title":"In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome","volume":"40","author":"Faivre","year":"2003b","journal-title":"J Med Genet"},{"key":"10.1002\/humu.22105-BIB9|cit9","doi-asserted-by":"crossref","first-page":"6932","DOI":"10.1128\/MCB.15.12.6932","article-title":"Bovine latent transforming growth factor beta 1-binding protein 2: molecular cloning, identification of tissue isoforms, and immunolocalization to elastin-associated microfibrils","volume":"15","author":"Gibson","year":"1995","journal-title":"Mol Cell Biol"},{"key":"10.1002\/humu.22105-BIB10|cit10","first-page":"111","article-title":"Glaucoma in the Marfan syndrome","volume":"90","author":"Izquierdo","year":"1992","journal-title":"Trans Am Ophthalmol Soc"},{"key":"10.1002\/humu.22105-BIB11|cit11","first-page":"2570","article-title":"Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma-a distinct phenotype caused by recessive LTBP2 mutations","volume":"17","author":"Khan","year":"2011","journal-title":"Mol Vis"},{"key":"10.1002\/humu.22105-BIB12|cit12","doi-asserted-by":"crossref","first-page":"e1001306","DOI":"10.1371\/journal.pgen.1001306","article-title":"Mapping of the disease locus and identification of ADAMTS10 as a candidate gene in a canine model of primary open angle glaucoma","volume":"7","author":"Kuchtey","year":"2011","journal-title":"PLoS Genet"},{"key":"10.1002\/humu.22105-BIB13|cit13","first-page":"17156","article-title":"ADAMTS10 interacts with fibrillin-1 and promotes its deposition in extracellular matrix of cultured fibroblasts","volume":"286","author":"Kutz","year":"2011","journal-title":"J BiolChem"},{"key":"10.1002\/humu.22105-BIB14|cit14","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1136\/jmg.2009.072785","article-title":"The revised Ghent nosology for the Marfan syndrome","volume":"47","author":"Loeys","year":"2010","journal-title":"J Med Genet"},{"key":"10.1002\/humu.22105-BIB15|cit15","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":"10.1002\/humu.22105-BIB16|cit16","doi-asserted-by":"crossref","first-page":"3969","DOI":"10.1093\/hmg\/ddp338","article-title":"Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma","volume":"18","author":"Narooie-Nejad","year":"2009","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.22105-BIB17|cit17","doi-asserted-by":"crossref","first-page":"1586","DOI":"10.1172\/JCI200422715","article-title":"TGF-beta-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome","volume":"114","author":"Ng","year":"2004","journal-title":"J Clin Invest"},{"key":"10.1002\/humu.22105-BIB18|cit18","doi-asserted-by":"crossref","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":"10.1002\/humu.22105-BIB19|cit19","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1136\/jmg.37.1.9","article-title":"The molecular genetics of Marfan syndrome and related microfibrillopathies","volume":"37","author":"Robinson","year":"2000","journal-title":"J Med Genet"},{"key":"10.1002\/humu.22105-BIB20|cit20","doi-asserted-by":"crossref","first-page":"2691","DOI":"10.1091\/mbc.11.8.2691","article-title":"Specific sequence motif of 8-Cys repeats of TGF-beta binding proteins, LTBPs, creates a hydrophobic interaction surface for binding of small latent TGF-beta","volume":"11","author":"Saharinen","year":"2000","journal-title":"Mol Biol Cell"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.22105","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1002\/humu.22105\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:53:36Z","timestamp":1672332816000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.22105"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,5,29]]},"references-count":20,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2012,8]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.22105","relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2012,5,29]]}}}