Autosomal Recessive Osteogenesis Imperfecta: A Puzzle for Bone Formation, Structure and Function
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s40142-013-0026-2.pdf
Reference79 articles.
1. Glorieux FH. Osteogenesis imperfecta. Best Pract Res Clin Rheumatol. 2008;22:85–100.
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3. • Pokidysheva E, Zientek KD, Ishikawa Y, Mizuno K, Vranka JA, Montgomery NT, Keene DR, Kawaguchi T, Okuyama K, Bachinger HP. Posttranslational modifications in Type I collagen from different tissues extracted from wild type and prolyl 3-hydroxylase 1 null mice. J Biol Chem. 2013;288:24742–52. This study shows the variability in 3-hydroxylation modification of collagen among skin, tendon and bone, as well as change in the expression profile of 3-hydroxylases.
4. Lisse TS, Thiele F, Fuchs H, Hans W, Przemeck GK, Abe K, Rathkolb B, Quintanilla-Martinez L, Hoelzlwimmer G, Helfrich M, Wolf E, Ralston SH, Hrabe de Angelis M. ER stress-mediated apoptosis in a new mouse model of osteogenesis imperfecta. PLoS Genet. 2008;4:e7.
5. • Cho TJ, Lee KE, Lee SK, Song SJ, Kim KJ, Jeon D, Lee G, Kim HN, Lee HR, Eom HH, Lee ZH, Kim OH, Park WY, Park SS, Ikegawa S, Yoo WJ, Choi IH, Kim JW. A single recurrent mutation in the 5′-UTR of IFITM5 causes osteogenesis imperfecta type V. Am J Hum Genet. 2012;91:343–8. In this study, a dominant mutation leading to OI was discovered in a gene encoding interferon-induced transmembrane protein 5, a new player in bone development.
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3. Substitutions for arginine at position 780 in triple helical domain of the α1(I) chain alter folding of the type I procollagen molecule and cause osteogenesis imperfecta;PLOS ONE;2018-07-10
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