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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. Among authors: urban z. 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.
Mechanisms of emphysema in autosomal dominant cutis laxa.
Hu Q, Shifren A, Sens C, Choi J, Szabo Z, Starcher BC, Knutsen RH, Shipley JM, Davis EC, Mecham RP, Urban Z. Hu Q, et al. Among authors: urban z. Matrix Biol. 2010 Sep;29(7):621-8. doi: 10.1016/j.matbio.2010.06.005. Epub 2010 Jun 28. Matrix Biol. 2010. PMID: 20600892 Free PMC article.
Domains 16 and 17 of tropoelastin in elastic fibre formation.
Wachi H, Sato F, Nakazawa J, Nonaka R, Szabo Z, Urban Z, Yasunaga T, Maeda I, Okamoto K, Starcher BC, Li DY, Mecham RP, Seyama Y. Wachi H, et al. Among authors: urban z. Biochem J. 2007 Feb 15;402(1):63-70. doi: 10.1042/BJ20061145. Biochem J. 2007. PMID: 17037986 Free PMC article.
84 results