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• W2727919760 startingPage "R83" @default.
• W2727919760 abstract "In the decades since the genes and mutations associated with the commoner Mendelian disorders were first discovered, technological advances in genetic analysis have made finding genomic variation a much less onerous task. Recently, the global efforts to collect subjects with Mendelian disorders, to better define the disorders and to empower appropriate clinical trials, along with improved genetic technologies, have allowed the identification of genetic variation that does not cause disease, but substantially modifies disease presentation. The advantage of this is it identifies biological pathways and molecules, that, if modified in people, might alter disease presentation. In Huntington’s disease (HD), caused by an expanded CAG repeat tract in HTT, genetic variation has been uncovered that is associated with change in the onset or progression of disease. Some of this variation lies in genes that are part of the DNA damage response, previously suggested to be important in modulating expansion of the repeat tract in germline and somatic cells. The genetic evidence implicates a DNA damage response-related pathway in modulating the pathogenicity of the repeat tracts in HD, and possibly, in other trinucleotide repeat disorders. These findings offer new targets for drug development in these currently intractable disorders." @default.
• W2727919760 created "2017-07-14" @default.
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• W2727919760 date "2017-07-06" @default.
• W2727919760 modified "2023-10-17" @default.
• W2727919760 title "Genetic modifiers of Mendelian disease: Huntington’s disease and the trinucleotide repeat disorders" @default.
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• W2727919760 cites W1739010416 @default.
• W2727919760 cites W1751728186 @default.
• W2727919760 cites W1893983977 @default.
• W2727919760 cites W1895398290 @default.
• W2727919760 cites W1966327575 @default.
• W2727919760 cites W1970814720 @default.
• W2727919760 cites W1971771243 @default.
• W2727919760 cites W1983436690 @default.
• W2727919760 cites W1985173578 @default.
• W2727919760 cites W1994646065 @default.
• W2727919760 cites W2005317772 @default.
• W2727919760 cites W2006764478 @default.
• W2727919760 cites W2008047653 @default.
• W2727919760 cites W2009144436 @default.
• W2727919760 cites W2019014411 @default.
• W2727919760 cites W2026802661 @default.
• W2727919760 cites W2035624998 @default.
• W2727919760 cites W2038886774 @default.
• W2727919760 cites W2040795152 @default.
• W2727919760 cites W2041467022 @default.
• W2727919760 cites W2042103448 @default.
• W2727919760 cites W2044884266 @default.
• W2727919760 cites W2046434400 @default.
• W2727919760 cites W2051314902 @default.
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• W2727919760 cites W2066649243 @default.
• W2727919760 cites W2073836327 @default.
• W2727919760 cites W2080439721 @default.
• W2727919760 cites W2086482792 @default.
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• W2727919760 cites W2103675937 @default.
• W2727919760 cites W2105824687 @default.
• W2727919760 cites W2110684391 @default.
• W2727919760 cites W2113629413 @default.
• W2727919760 cites W2113661629 @default.
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• W2727919760 cites W2118822739 @default.
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• W2727919760 cites W2131173813 @default.
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• W2727919760 cites W2267529971 @default.
• W2727919760 cites W2296503691 @default.
• W2727919760 cites W2342089554 @default.
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• W2727919760 doi "https://doi.org/10.1093/hmg/ddx261" @default.
• W2727919760 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/28977442" @default.
• W2727919760 hasPublicationYear "2017" @default.
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