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Heritability in the efficiency of nonsense-mediated mrna decay in humans
(Public Library of Science (PLoS), 2010-07-21)
Background: In eukaryotes mRNA transcripts of protein-coding genes in which an intron has been retained in the coding region normally result in premature stop codons and are therefore degraded through the nonsense-mediated ...
Mutsβ and histone deacetylase complexes promote expansions of trinucleotide repeats in human cells
(Oxford University Press (OUP), 2012-08-30)
Trinucleotide repeat (TNR) expansions cause at least 17 heritable neurological diseases, including Huntington's disease. Expansions are thought to arise from abnormal processing of TNR DNA by specific trans-acting proteins. ...