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Alternative splicing and tissue-specific elastin misassembly act as biological modifiers of human elastin gene frameshift mutations associated with dominant cutis laxa.
Sugitani H, Hirano E, Knutsen RH, Shifren A, Wagenseil JE, Ciliberto C, Kozel BA, Urban Z, Davis EC, Broekelmann TJ, Mecham RP. Sugitani H, et al. J Biol Chem. 2012 Jun 22;287(26):22055-67. doi: 10.1074/jbc.M111.327940. Epub 2012 May 9. J Biol Chem. 2012. PMID: 22573328 Free PMC article.
The importance of elastin to aortic development in mice.
Wagenseil JE, Ciliberto CH, Knutsen RH, Levy MA, Kovacs A, Mecham RP. Wagenseil JE, et al. Among authors: ciliberto ch. Am J Physiol Heart Circ Physiol. 2010 Aug;299(2):H257-64. doi: 10.1152/ajpheart.00194.2010. Epub 2010 May 21. Am J Physiol Heart Circ Physiol. 2010. PMID: 20495146 Free PMC article.