Eric C. Beyer to Mutation
This is a "connection" page, showing publications Eric C. Beyer has written about Mutation.
Connection Strength
1.577
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Do Connexin Mutants Cause Cataracts by Perturbing Glutathione Levels and Redox Metabolism in the Lens? Biomolecules. 2020 10 07; 10(10).
Score: 0.330
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Connexin Mutants Compromise the Lens Circulation and Cause Cataracts through Biomineralization. Int J Mol Sci. 2020 Aug 13; 21(16).
Score: 0.327
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Degradation of a connexin40 mutant linked to atrial fibrillation is accelerated. J Mol Cell Cardiol. 2014 Sep; 74:330-9.
Score: 0.214
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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: 0.153
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Cataract-linked serine mutations in the gap junction protein connexin50 expose a sorting signal that promotes its lysosomal degradation. J Biol Chem. 2022 03; 298(3):101673.
Score: 0.091
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p62/Sequestosome 1 levels increase and phosphorylation is altered in Cx50D47A lenses, but deletion of p62/sequestosome 1 does not improve transparency. Mol Vis. 2020; 26:204-215.
Score: 0.079
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Atrial fibrillation-associated connexin40 mutants make hemichannels and synergistically form gap junction channels with novel properties. FEBS Lett. 2014 Apr 17; 588(8):1458-64.
Score: 0.052
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Structural organization of intercellular channels II. Amino terminal domain of the connexins: sequence, functional roles, and structure. Biochim Biophys Acta. 2012 Aug; 1818(8):1823-30.
Score: 0.044
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Different consequences of cataract-associated mutations at adjacent positions in the first extracellular boundary of connexin50. Am J Physiol Cell Physiol. 2011 May; 300(5):C1055-64.
Score: 0.042
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The cytoplasmic accumulations of the cataract-associated mutant, Connexin50P88S, are long-lived and form in the endoplasmic reticulum. Exp Eye Res. 2009 Mar; 88(3):600-9.
Score: 0.036
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A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract. J Med Genet. 2006 Jan; 43(1):e2.
Score: 0.030
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An aberrant sequence in a connexin46 mutant underlies congenital cataracts. J Biol Chem. 2005 Dec 09; 280(49):40788-95.
Score: 0.029
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Connexin channels and hemichannels are modulated differently by charge reversal at residues forming the intracellular pocket. Biol Res. 2024 May 23; 57(1):31.
Score: 0.027
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Loss of function and impaired degradation of a cataract-associated mutant connexin50. Eur J Cell Biol. 2003 May; 82(5):209-21.
Score: 0.025
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Connexin46 mutations linked to congenital cataract show loss of gap junction channel function. Am J Physiol Cell Physiol. 2000 Sep; 279(3):C596-602.
Score: 0.021
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Disruption of the lens circulation causes calcium accumulation and precipitates in connexin mutant mice. Am J Physiol Cell Physiol. 2018 04 01; 314(4):C492-C503.
Score: 0.017
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The connexin46 mutant, Cx46T19M, causes loss of gap junction function and alters hemi-channel gating. J Membr Biol. 2015 Feb; 248(1):145-55.
Score: 0.014
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A connexin50 mutant, CX50fs, that causes cataracts is unstable, but is rescued by a proteasomal inhibitor. J Biol Chem. 2013 Jul 12; 288(28):20427-34.
Score: 0.012
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Critical role of the first transmembrane domain of Cx26 in regulating oligomerization and function. Mol Biol Cell. 2012 Sep; 23(17):3299-311.
Score: 0.012
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Amino terminal glutamate residues confer spermine sensitivity and affect voltage gating and channel conductance of rat connexin40 gap junctions. J Physiol. 2004 Jun 15; 557(Pt 3):863-78.
Score: 0.007
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A carboxyl terminal domain of connexin43 is critical for gap junction plaque formation but not for homo- or hetero-oligomerization. Cell Commun Adhes. 2003 Jul-Dec; 10(4-6):323-8.
Score: 0.006
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Expression of zebrafish connexin43.4 in the notochord and tail bud of wild-type and mutant no tail embryos. Dev Biol. 1996 Aug 01; 177(2):449-62.
Score: 0.004
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Expression patterns of mRNAs for the gap junction proteins connexin43 and connexin42 suggest their involvement in chick limb morphogenesis and specification of the arterial vasculature. Dev Dyn. 1994 Feb; 199(2):156-67.
Score: 0.003
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Characterization of gap junctional communication-deficient mutants of a rat liver epithelial cell line. Eur J Cell Biol. 1993 Apr; 60(2):250-5.
Score: 0.003