{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T13:43:09Z","timestamp":1790516589549,"version":"4.1.0"},"reference-count":54,"publisher":"Oxford University Press (OUP)","issue":"15","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum. Mol. Genet."],"published-print":{"date-parts":[[2015,8,1]]},"DOI":"10.1093\/hmg\/ddv181","type":"journal-article","created":{"date-parts":[[2015,5,16]],"date-time":"2015-05-16T01:47:04Z","timestamp":1431740824000},"page":"4454-4463","source":"Crossref","is-referenced-by-count":28,"title":["A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias"],"prefix":"10.1093","volume":"24","author":[{"given":"Sacha A.","family":"Jensen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Iqbal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alicja","family":"Bulsiewicz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Penny A.","family":"Handford","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2015,5,15]]},"reference":[{"key":"2015070608392084000_24.15.4454.1","doi-asserted-by":"publisher","DOI":"10.1002\/path.1711310104"},{"key":"2015070608392084000_24.15.4454.2","doi-asserted-by":"publisher","DOI":"10.1002\/path.1711240205"},{"key":"2015070608392084000_24.15.4454.3","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.40.2.366"},{"key":"2015070608392084000_24.15.4454.4","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M303159200"},{"key":"2015070608392084000_24.15.4454.5","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M607008200"},{"key":"2015070608392084000_24.15.4454.6","doi-asserted-by":"publisher","DOI":"10.1016\/j.str.2004.02.023"},{"key":"2015070608392084000_24.15.4454.7","doi-asserted-by":"publisher","DOI":"10.1016\/j.matbio.2006.12.006"},{"key":"2015070608392084000_24.15.4454.8","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M209256200"},{"key":"2015070608392084000_24.15.4454.9","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M707820200"},{"key":"2015070608392084000_24.15.4454.10","doi-asserted-by":"crossref","unstructured":"Eswar N. Webb B. Marti-Renom M.A. Madhusudhan M.S. Eramian D. Shen M.Y. Pieper U. Sali A. (2007) Comparative protein structure modeling using MODELLER. Curr. Protoc. Protein Sci., Chapter 2, Unit 2.9.","DOI":"10.1002\/0471140864.ps0209s50"},{"key":"2015070608392084000_24.15.4454.11","doi-asserted-by":"publisher","DOI":"10.1042\/BJ20101320"},{"key":"2015070608392084000_24.15.4454.12","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmb.2003.09.053"},{"key":"2015070608392084000_24.15.4454.13","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/16.22.6659"},{"key":"2015070608392084000_24.15.4454.14","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960329)62:3<233::AID-AJMG7>3.0.CO;2-U"},{"key":"2015070608392084000_24.15.4454.15","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3000488"},{"key":"2015070608392084000_24.15.4454.16","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.05.012"},{"key":"2015070608392084000_24.15.4454.17","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2012.10.060"},{"key":"2015070608392084000_24.15.4454.18","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36044"},{"key":"2015070608392084000_24.15.4454.19","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00845.x"},{"key":"2015070608392084000_24.15.4454.20","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.1.34"},{"key":"2015070608392084000_24.15.4454.21","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.36"},{"key":"2015070608392084000_24.15.4454.22","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31337"},{"key":"2015070608392084000_24.15.4454.23","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg241"},{"key":"2015070608392084000_24.15.4454.24","doi-asserted-by":"crossref","unstructured":"Karttunen L. Ukkonen T. Kainulainen K. Syvanen A.C. Peltonen L. (1998) Two novel fibrillin-1 mutations resulting in premature termination codons but in different mutant transcript levels and clinical phenotypes. Hum. Mutat., Suppl 1, S34\u2013S37.","DOI":"10.1002\/humu.1380110112"},{"key":"2015070608392084000_24.15.4454.25","doi-asserted-by":"publisher","DOI":"10.1006\/jmbi.1995.0270"},{"key":"2015070608392084000_24.15.4454.26","doi-asserted-by":"publisher","DOI":"10.1172\/JCI117930"},{"key":"2015070608392084000_24.15.4454.27","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1996.0492"},{"key":"2015070608392084000_24.15.4454.28","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M111.221804"},{"key":"2015070608392084000_24.15.4454.29","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.13.1987"},{"key":"2015070608392084000_24.15.4454.30","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.275.16.12339"},{"key":"2015070608392084000_24.15.4454.31","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.14.7807"},{"key":"2015070608392084000_24.15.4454.32","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg081"},{"key":"2015070608392084000_24.15.4454.33","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm035"},{"key":"2015070608392084000_24.15.4454.34","doi-asserted-by":"publisher","DOI":"10.1172\/JCI115589"},{"key":"2015070608392084000_24.15.4454.35","doi-asserted-by":"publisher","DOI":"10.1021\/bm5000696"},{"key":"2015070608392084000_24.15.4454.36","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1401697111"},{"key":"2015070608392084000_24.15.4454.37","doi-asserted-by":"publisher","DOI":"10.1016\/S1357-2725(99)00120-X"},{"key":"2015070608392084000_24.15.4454.38","doi-asserted-by":"crossref","unstructured":"Comeglio P. Johnson P. Arno G. Brice G. Evans A. Aragon-Martin J. da Silva F.P. Kiotsekoglou A. Child A. (2007) The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. Hum. Mutat., 28, 928.","DOI":"10.1002\/humu.9505"},{"key":"2015070608392084000_24.15.4454.39","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.01126.x"},{"key":"2015070608392084000_24.15.4454.40","doi-asserted-by":"publisher","DOI":"10.1038\/nature12614"},{"key":"2015070608392084000_24.15.4454.41","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M412832200"},{"key":"2015070608392084000_24.15.4454.42","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M501390200"},{"key":"2015070608392084000_24.15.4454.43","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0048634"},{"key":"2015070608392084000_24.15.4454.44","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M803373200"},{"key":"2015070608392084000_24.15.4454.45","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M104985200"},{"key":"2015070608392084000_24.15.4454.46","doi-asserted-by":"publisher","DOI":"10.1016\/j.febslet.2014.06.061"},{"key":"2015070608392084000_24.15.4454.47","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.003954"},{"key":"2015070608392084000_24.15.4454.48","doi-asserted-by":"publisher","DOI":"10.1016\/j.sbi.2012.07.003"},{"key":"2015070608392084000_24.15.4454.49","doi-asserted-by":"publisher","DOI":"10.1038\/ng1116"},{"key":"2015070608392084000_24.15.4454.50","doi-asserted-by":"publisher","DOI":"10.1038\/ng.199"},{"key":"2015070608392084000_24.15.4454.51","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002425"},{"key":"2015070608392084000_24.15.4454.52","doi-asserted-by":"publisher","DOI":"10.1172\/JCI200420641"},{"key":"2015070608392084000_24.15.4454.53","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-007-0371-x"},{"key":"2015070608392084000_24.15.4454.54","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmb.2010.06.039"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/24\/15\/4454\/17262992\/ddv181.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,8,24]],"date-time":"2017-08-24T11:19:46Z","timestamp":1503573586000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article-lookup\/doi\/10.1093\/hmg\/ddv181"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,5,15]]},"references-count":54,"journal-issue":{"issue":"15","published-online":{"date-parts":[[2015,7,6]]},"published-print":{"date-parts":[[2015,8,1]]}},"alternative-id":["10.1093\/hmg\/ddv181"],"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddv181","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,5,15]]}}}