Eric C. Beyer to Amino Acid Substitution
This is a "connection" page, showing publications Eric C. Beyer has written about Amino Acid Substitution.
Connection Strength
0.613
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The GJA8 allele encoding CX50I247M is a rare polymorphism, not a cataract-causing mutation. Mol Vis. 2009 Sep 14; 15:1881-5.
Score: 0.313
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The Cataract-linked Mutant Connexin50D47A Causes Endoplasmic Reticulum Stress in Mouse Lenses. J Biol Chem. 2016 08 19; 291(34):17569-78.
Score: 0.125
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An intact connexin N-terminus is required for function but not gap junction formation. J Cell Sci. 2008 Aug 15; 121(Pt 16):2744-50.
Score: 0.072
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Cataracts are caused by alterations of a critical N-terminal positive charge in connexin50. Invest Ophthalmol Vis Sci. 2008 Jun; 49(6):2549-56.
Score: 0.070
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A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts. J Med Genet. 2008 Mar; 45(3):155-60.
Score: 0.017
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Connexin43 with a cytoplasmic loop deletion inhibits the function of several connexins. Biochem Biophys Res Commun. 2005 Aug 12; 333(4):1185-93.
Score: 0.015