{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T14:50:15Z","timestamp":1761058215208},"reference-count":34,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2005,2,5]],"date-time":"2005-02-05T00:00:00Z","timestamp":1107561600000},"content-version":"vor","delay-in-days":4175,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["BioEssays"],"published-print":{"date-parts":[[1993,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A few years ago no one would have suspected that the well\u2010known disorder of connective tissue, Marfan syndrome, could be caused by mutations in a recently discovered extracellular component, fibrillin. Likewise, nobody would have predicted that fibrillin represents a small family of proteins that are associated with several pheno\u2010typically overlapping disorders. The fibrillins are integral constituents of the non\u2010collagenous microfibrils, with an average diameter of 10 nm. These aggregates are distributed in the extracellular matrix of virtually every tissue. Microfibrillar bundles provide the external coating to elastin in elastic fibers, and serve an anchoring function in non\u2010elastic tissues. At higher resolution, individual microfibrils have a \u201cbeads\u2010on\u2010a\u2010string\u201d appearance resulting from the head\u2010to\u2010tail polymerization of multiple fibrillin aggregates. Structurally, fibrillin contains a series of repeated sequences homologous to the epidermal growth factor calcium\u2010binding motif. Characterization of fibrillin mutations in Marfan syndrome patients, together with the elucidation of the structure of the fibrillin proteins, have provided new insights, and raised new questions, about the function of the 10 nm microfibrils. For example, it is possible that the fibrillins, in addition to serving a structural function, might also be involved in regulating cellular activities and morphogenetic programs. It is fitting that the long search for the Marfan syndrome gene has brought a novel group of proteins to the forefront of extracellular matrix biology.<\/jats:p>","DOI":"10.1002\/bies.950150904","type":"journal-article","created":{"date-parts":[[2005,2,25]],"date-time":"2005-02-25T10:08:44Z","timestamp":1109326124000},"page":"589-594","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":38,"title":["The fibrillin\u2010marfan syndrome connection"],"prefix":"10.1002","volume":"15","author":[{"given":"Francesco","family":"Ramirez","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lygia","family":"Pereira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brendan","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,2,5]]},"reference":[{"key":"e_1_2_1_2_2","first-page":"220","article-title":"Un cas d\u00e9formation cong\u00e9nitale des quatre membres plus prononc\u00e9e aux charact\u00e9ris\u00e9e par I'allongement des os avec uncertain degr\u00e9 d'amincissement","volume":"13","author":"Marfan A. B.","year":"1896","journal-title":"Bull. M\u00e9m. Soc. Med. Hop. Paris"},{"key":"e_1_2_1_3_2","doi-asserted-by":"crossref","first-page":"887","DOI":"10.2106\/00004623-197153050-00013","article-title":"Congenital contractural arachnodactyly; a heritable disorder of connective tissue","volume":"53","author":"Beals R. K.","year":"1971","journal-title":"J. Bone Jt Surg."},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199007193230303"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199010043231402"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/352337a0"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.103.6.2499"},{"key":"e_1_2_1_8_2","first-page":"61","volume-title":"Heritable Disorders of Connective Tissue","author":"McKusick V. A.","year":"1972"},{"key":"e_1_2_1_9_2","first-page":"1047","volume-title":"Principles and Practice of Medical Genetics","author":"Pyeritz R. E.","year":"1990"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/ar.1091420205"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-12-363710-9.50009-5"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4615-3770-0_4"},{"key":"e_1_2_1_13_2","doi-asserted-by":"crossref","first-page":"7596","DOI":"10.1016\/S0021-9258(20)89489-7","article-title":"Complementary DNA cloning establishes microfibril\u2010associated glycoprotein(MAGP) to be a discrete component of elastin\u2010associated microfibrils","volume":"266","author":"Gibson M. A.","year":"1991","journal-title":"J. biol. Chem."},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)50203-4"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/352334a0"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1038\/352330a0"},{"key":"e_1_2_1_17_2","first-page":"21381","article-title":"Connective tissue microfibrils; isolation and characterization of three large pepsin\u2010resistant domains of fibrillin","volume":"264","author":"Maddox B. K.","year":"1989","journal-title":"J. biol. Chem."},{"key":"e_1_2_1_18_2","unstructured":"Gibson M. A. Davis E. Filiaggi M.andMecham R. P.(1993). Identification and partial characterization of a new fibrillin\u2010like protein (FLP) [Abstract] Am.J.Med.Genet. in press."},{"key":"e_1_2_1_19_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.7.961"},{"key":"e_1_2_1_20_2","first-page":"410","article-title":"The many faces of epidermal growth factor repeats","volume":"2","author":"Davis C. G.","year":"1990","journal-title":"New Biologist"},{"key":"e_1_2_1_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90064-6"},{"key":"e_1_2_1_22_2","doi-asserted-by":"crossref","first-page":"1067","DOI":"10.1002\/j.1460-2075.1989.tb03474.x","article-title":"Molecular pathology of haemophilia B","volume":"8","author":"Green P.","year":"1984","journal-title":"EMBO J."},{"key":"e_1_2_1_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(90)90069-Q"},{"key":"e_1_2_1_24_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI115589"},{"key":"e_1_2_1_25_2","doi-asserted-by":"publisher","DOI":"10.1177\/39.4.2005373"},{"key":"e_1_2_1_26_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)98752-1"},{"key":"e_1_2_1_27_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI115766"},{"key":"e_1_2_1_28_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.89.13.5917"},{"key":"e_1_2_1_29_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.8430317"},{"key":"e_1_2_1_30_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.4.475"},{"key":"e_1_2_1_31_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0293-99"},{"key":"e_1_2_1_32_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199204023261401"},{"key":"e_1_2_1_33_2","first-page":"173","article-title":"Modifications in the organization and expression of collagen genes associated with skeletal disorders","volume":"1","author":"Lee B.","year":"1991","journal-title":"Crit. Rev. Euk. Gene Expr."},{"key":"e_1_2_1_34_2","doi-asserted-by":"publisher","DOI":"10.1016\/0014-5793(89)81417-6"},{"key":"e_1_2_1_35_2","doi-asserted-by":"publisher","DOI":"10.1038\/352279a0"}],"container-title":["BioEssays"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fbies.950150904","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/bies.950150904","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T22:28:12Z","timestamp":1698272892000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/bies.950150904"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,9]]},"references-count":34,"journal-issue":{"issue":"9","published-print":{"date-parts":[[1993,9]]}},"alternative-id":["10.1002\/bies.950150904"],"URL":"https:\/\/doi.org\/10.1002\/bies.950150904","archive":["Portico"],"relation":{},"ISSN":["0265-9247","1521-1878"],"issn-type":[{"value":"0265-9247","type":"print"},{"value":"1521-1878","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,9]]},"assertion":[{"value":"2005-02-05","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}