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Modifiers of Somatic Repeat Instability in Mouse Models of Friedreich Ataxia and the Fragile X-Related Disorders: Implications for the Mechanism of Somatic Expansion in Huntington's Disease

1 month ago   |   By Harvard

Xiaonan Zhao, Daman Kumari, Carson J Miller, Geum-Yi Kim, Bruce Hayward, Antonia G Vitalo, Ricardo Mouro Pinto, and Karen Usdin. 2021. “ Modifiers of Somatic Repeat Instability in Mouse Models of Friedreich Ataxia and the Fragile X-Related Disorders: Implications for the Mechanism of Somatic Expansion in Huntington's Disease .” J Huntingtons Dis, 10, 1, Pp. 149-163. Abstract Huntington's disease is one of a large group of human disorders that are caused by expanded DNA repeats. These repeat expansion disorders can have repeat units of different size and sequence that can be located in any...
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Genetic Contributors to Intergenerational CAG Repeat Instability in Huntington's Disease Knock-In Mice

1 month ago   |   By Harvard

João Luís Neto, Jong-Min Lee, Ali Afridi, Tammy Gillis, Jolene R Guide, Stephani Dempsey, Brenda Lager, Isabel Alonso, Vanessa C Wheeler, and Ricardo Mouro Pinto. 2017. “ Genetic Contributors to Intergenerational CAG Repeat Instability in Huntington's Disease Knock-In Mice .” Genetics, 205, 2, Pp. 503-516. Abstract Huntington's disease is a neurodegenerative disorder caused by the expansion of a CAG trinucleotide repeat in exon 1 of the HTT gene. Longer repeat sizes are associated with increased disease penetrance and earlier ages of onset. Intergenerationally unstable transmissions are...
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Identification of genetic modifiers of somatic CAG instability in Huntington's Disease by in vivo CRISPR - Cas9 genome editing:

1 month ago   |   By Harvard

A Azevedo, M Kovalenko, M Andrew, F Zhang, J Lee, V Wheeler, and Mouro R Pinto. 2017. “ Identification of genetic modifiers of somatic CAG instability in Huntington's Disease by in vivo CRISPR - Cas9 genome editing: .” Porto Biomed J, 2, 5, Pp. 209-210.
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A Note on the Global Distribution of Authorship in Economics Journal

Jacob Greenspon and Dani Rodrik. 2021. “ A Note on the Global Distribution of Authorship in Economics Journal ”. Abstract a note on the global distribution of authorship... Read more ...

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Hundreds of ancient ceremonial sites found in southern Mexico

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Integration of whole genome sequencing and transcriptomics reveals a complex...

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Covid-19 dashboard: Cases, deaths and vaccinations

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