Articles with "splicing mutant" as a keyword



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Phenotype onset in Huntington’s disease knock‐in mice is correlated with the incomplete splicing of the mutant huntingtin gene

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Published in 2019 at "Journal of Neuroscience Research"

DOI: 10.1002/jnr.24493

Abstract: Huntington’s disease (HD) is a progressive neurodegenerative disorder caused by an expanded CAG repeat within the huntingtin (HTT) gene. The Q140 and HdhQ150 knock‐in HD mouse models were generated such that HdhQ150 mice have an… read more here.

Keywords: knock; htt; splicing mutant; mice ... See more keywords
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Altered RNA Splicing by Mutant p53 Activates Oncogenic RAS Signaling in Pancreatic Cancer.

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Published in 2020 at "Cancer cell"

DOI: 10.1016/j.ccell.2020.05.010

Abstract: Pancreatic ductal adenocarcinoma (PDAC) is driven by co-existing mutations in KRAS and TP53. However, how these mutations collaborate to promote this cancer is unknown. Here, we uncover sequence-specific changes in RNA splicing enforced by mutant… read more here.

Keywords: altered rna; splicing mutant; mutant p53; cancer ... See more keywords