{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T02:51:41Z","timestamp":1768272701817,"version":"3.49.0"},"reference-count":20,"publisher":"Elsevier BV","issue":"8-9","license":[{"start":{"date-parts":[[1998,12,1]],"date-time":"1998-12-01T00:00:00Z","timestamp":912470400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Matrix Biology"],"published-print":{"date-parts":[[1998,12]]},"DOI":"10.1016\/s0945-053x(98)90109-3","type":"journal-article","created":{"date-parts":[[2002,10,21]],"date-time":"2002-10-21T15:29:59Z","timestamp":1035214199000},"page":"575-584","source":"Crossref","is-referenced-by-count":22,"title":["An \u03b12(I) glycine to aspartate substitution is responsible for the presence of a kink in type I collagen in a lethal case of osteogenesis imperfecta"],"prefix":"10.1016","volume":"17","author":[{"given":"Antonella","family":"Forlino","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Douglas R.","family":"Keene","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karen","family":"Schmidt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joan C.","family":"Marini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/S0945-053X(98)90109-3_BIB1","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1042\/bj2670573","article-title":"Assessment of procollagen processing defects by fibroblasts cultured in the presence of dextran sulphate","volume":"267","author":"Bateman","year":"1990","journal-title":"Biochem. J."},{"key":"10.1016\/S0945-053X(98)90109-3_BIB2","doi-asserted-by":"crossref","first-page":"4445","DOI":"10.1016\/S0021-9258(18)61213-X","article-title":"A structural mutation of the collagen \u03b11(I)CB7 peptide in lethal perinatal osteogenesis imperfecta","volume":"262","author":"Bateman","year":"1987","journal-title":"J. Biol. Chem."},{"key":"10.1016\/S0945-053X(98)90109-3_BIB3","doi-asserted-by":"crossref","first-page":"1734","DOI":"10.1016\/S0021-9258(18)89655-7","article-title":"Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta","volume":"260","author":"Bonadio","year":"1985","journal-title":"J. Biol. Chem."},{"key":"10.1016\/S0945-053X(98)90109-3_BIB4","series-title":"Connective Tissue and Heritable Disorders","first-page":"317","article-title":"Osteogenesis Imperfecta","author":"Byers","year":"1993"},{"key":"10.1016\/S0945-053X(98)90109-3_BIB5","first-page":"156","article-title":"Single step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction","volume":"162","author":"Chomezynsky","year":"1987","journal-title":"Anal. Biochem."},{"key":"10.1016\/S0945-053X(98)90109-3_BIB6","first-page":"49","author":"Dalgleish","year":"1994"},{"key":"10.1016\/S0945-053X(98)90109-3_BIB7","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1146\/annurev.bb.20.060191.001033","article-title":"The zipper-like folding of collagen triple helices and the effects of mutations that disrupt the zipper","volume":"20","author":"Engel","year":"1991","journal-title":"Annu. Rev. Biophys. Chem."},{"key":"10.1016\/S0945-053X(98)90109-3_BIB8","doi-asserted-by":"crossref","first-page":"2052","DOI":"10.1096\/fasebj.5.7.2010058","article-title":"Mutations in collagen genes: Causes of rare and some common diseases in humans","volume":"5","author":"Kuivaniemi","year":"1991","journal-title":"FASEB J."},{"key":"10.1016\/S0945-053X(98)90109-3_BIB9","doi-asserted-by":"crossref","first-page":"25521","DOI":"10.1016\/S0021-9258(19)74071-X","article-title":"Type I procollagens containing substitutions of aspartate, arginine, and cysteine for glycine in the pro\u03b11(I) chain are cleaved slowly by N-proteinase, but only the cysteine substitution introduces a kink in the molecule","volume":"267","author":"Lightfoot","year":"1992","journal-title":"J. Biol. Chem."},{"key":"10.1016\/S0945-053X(98)90109-3_BIB10","doi-asserted-by":"crossref","first-page":"11893","DOI":"10.1016\/S0021-9258(18)80150-8","article-title":"Osteogenesis Imperfecta type IV: detection of a point mutation in one \u03b11(I) collagen allele (COL1A1) by RNA\/RNA hybrid analysis","volume":"264","author":"Marini","year":"1989","journal-title":"J. Biol. Chem."},{"key":"10.1016\/S0945-053X(98)90109-3_BIB11","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1016\/0968-0004(85)90089-1","article-title":"The genetically distinct collagens","volume":"115","author":"Martin","year":"1985","journal-title":"Trends Biochem. Sci."},{"key":"10.1016\/S0945-053X(98)90109-3_BIB12","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1749-6632.1985.tb51152.x","article-title":"The structure of fibril-forming collagens","volume":"460","author":"Miller","year":"1985","journal-title":"Ann. NY Acad. Sci."},{"key":"10.1016\/S0945-053X(98)90109-3_BIB13","doi-asserted-by":"crossref","first-page":"5638","DOI":"10.1016\/S0021-9258(19)57262-3","article-title":"The tissue form of type VII collagen is an antiparallel dimer","volume":"261","author":"Morris","year":"1986","journal-title":"J. Biol. Chem."},{"key":"10.1016\/S0945-053X(98)90109-3_BIB14","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1007\/BF00201570","article-title":"A base substitution at IVS-19 3\u2032-end splice junction causes exon 20 skipping in pro\u03b12(I) collagen mRNA and produces mild osteogenesis imperfecta","volume":"93","author":"Mottes","year":"1994","journal-title":"Hum. Genet."},{"key":"10.1016\/S0945-053X(98)90109-3_BIB15","doi-asserted-by":"crossref","first-page":"23108","DOI":"10.1016\/S0021-9258(18)50063-6","article-title":"Incorporation of type I collagen molecules that contain a mutant \u03b12(I) chain (Gly580 \u2192 Asp) into bone matrix in a lethal case of Osteogenesis Imperfecta","volume":"267","author":"Niyibizi","year":"1992","journal-title":"J. Biol. Chem."},{"key":"10.1016\/S0945-053X(98)90109-3_BIB16","doi-asserted-by":"crossref","first-page":"1723","DOI":"10.1172\/JCI114897","article-title":"A substitution at a non-glycine position in the triple-helical domain of pro\u03b12(I) collagen chains present in an individual with a variant of the Marfan Syndrome","volume":"86","author":"Phillips","year":"1990","journal-title":"J. Clin. Invest."},{"key":"10.1016\/S0945-053X(98)90109-3_BIB17","series-title":"Substitution of cysteine for glycine 178 in the triple helical domain","first-page":"1872","article-title":"A de novo G to T transversion in a pro-alpha 1(I) collagen gene for a moderate case of Osteogenesis imperfecta","volume":"266","author":"Valli","year":"1991"},{"key":"10.1016\/S0945-053X(98)90109-3_BIB18","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1016\/S0934-8832(11)80022-3","article-title":"Extracellular matrix deposition in cultural dermal fibroblasts from four probands affected by Osteogenesis Imperfecta","volume":"13","author":"Valli","year":"1993","journal-title":"Matrix"},{"key":"10.1016\/S0945-053X(98)90109-3_BIB19","doi-asserted-by":"crossref","first-page":"19249","DOI":"10.1016\/S0021-9258(18)37416-7","article-title":"A substitution of cysteine for glycine 748 of the \u03b11 chain produces a kink at this site in the procollagen type I molecules and an altered N-Proteinase cleavage site over 225 nm away","volume":"263","author":"Vogel","year":"1988","journal-title":"J. Biol. Chem."},{"key":"10.1016\/S0945-053X(98)90109-3_BIB20","doi-asserted-by":"crossref","first-page":"2590","DOI":"10.1016\/S0021-9258(18)52286-9","article-title":"Effect of different cysteine for glycine substitutions within \u03b12(I) chains","volume":"266","author":"Wenstrup","year":"1991","journal-title":"J. Biol. Chem."}],"container-title":["Matrix Biology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0945053X98901093?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0945053X98901093?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2021,5,29]],"date-time":"2021-05-29T20:32:59Z","timestamp":1622320379000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0945053X98901093"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,12]]},"references-count":20,"journal-issue":{"issue":"8-9","published-print":{"date-parts":[[1998,12]]}},"alternative-id":["S0945053X98901093"],"URL":"https:\/\/doi.org\/10.1016\/s0945-053x(98)90109-3","relation":{},"ISSN":["0945-053X"],"issn-type":[{"value":"0945-053X","type":"print"}],"subject":[],"published":{"date-parts":[[1998,12]]}}}