Sherine Chan to Mutation
This is a "connection" page, showing publications Sherine Chan has written about Mutation.
Connection Strength
1.027
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De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome. Mitochondrion. 2009 Sep; 9(5):340-5.
Score: 0.237
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Functional analysis of mutant mitochondrial DNA polymerase proteins involved in human disease. Methods Mol Biol. 2009; 554:59-72.
Score: 0.230
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DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations. Biochim Biophys Acta. 2009 May; 1787(5):312-9.
Score: 0.228
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Zebrafish lacking functional DNA polymerase gamma survive to juvenile stage, despite rapid and sustained mitochondrial DNA depletion, altered energetics and growth. Nucleic Acids Res. 2015 Dec 02; 43(21):10338-52.
Score: 0.092
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Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication. J Biol Chem. 2009 Jul 17; 284(29):19501-10.
Score: 0.059
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Mitochondrial toxicity in hearts of CD-1 mice following perinatal exposure to AZT, 3TC, or AZT/3TC in combination. Environ Mol Mutagen. 2007 Apr-May; 48(3-4):190-200.
Score: 0.051
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Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders. Hum Mol Genet. 2006 Dec 01; 15(23):3473-83.
Score: 0.050
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Molecular diagnosis of Alpers syndrome. J Hepatol. 2006 Jul; 45(1):108-16.
Score: 0.047
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Copper supplementation restores cytochrome c oxidase assembly defect in a mitochondrial disease model of COA6 deficiency. Hum Mol Genet. 2014 Jul 01; 23(13):3596-606.
Score: 0.021
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Decreased mtDNA, oxidative stress, cardiomyopathy, and death from transgenic cardiac targeted human mutant polymerase gamma. Lab Invest. 2007 Apr; 87(4):326-35.
Score: 0.012