Alternative Splicing and Tissue-specific Elastin Misassembly Act as Biological Modifiers of Human Elastin Gene Frameshift Mutations Associated with Dominant Cutis Laxa

Elastin is the extracellular matrix protein in vertebrates that provides elastic recoil to blood vessels, the lung, and skin. Because the elastin gene has undergone significant changes in the primate lineage, modeling elastin diseases in non-human animals can be problematic. To investigate the patho...

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Main Authors: Sugitani, Hideki, Hirano, Eiichi, Knutsen, Russell H., Shifren, Adrian, Wagenseil, Jessica E., Ciliberto, Christopher, Kozel, Beth A., Urban, Zsolt, Davis, Elaine C., Broekelmann, Thomas J., Mecham, Robert P.
Formáid: Artigo
Teanga:Inglês
Foilsithe: American Society for Biochemistry and Molecular Biology 2012
Ábhair:
Molecular Bases of Disease
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3381164/
https://ncbi.nlm.nih.gov/pubmed/22573328
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M111.327940
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