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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Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Biochemistry and Molecular Biology 2012
Témata:
Molecular Bases of Disease
On-line přístup: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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