FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3081910414> ?p ?o ?g. }

• W3081910414 endingPage "3053" @default.
• W3081910414 startingPage "3044" @default.
• W3081910414 abstract "Abstract Recent genome-wide association studies of age-at-onset in Huntington’s disease (HD) point to distinct modes of potential disease modification: altering the rate of somatic expansion of the HTT CAG repeat or altering the resulting CAG threshold length-triggered toxicity process. Here, we evaluated the mouse orthologs of two HD age-at-onset modifier genes, FAN1 and RRM2B, for an influence on somatic instability of the expanded CAG repeat in Htt CAG knock-in mice. Fan1 knock-out increased somatic expansion of Htt CAG repeats, in the juvenile- and the adult-onset HD ranges, whereas knock-out of Rrm2b did not greatly alter somatic Htt CAG repeat instability. Simultaneous knock-out of Mlh1, the ortholog of a third HD age-at-onset modifier gene (MLH1), which suppresses somatic expansion of the Htt knock-in CAG repeat, blocked the Fan1 knock-out-induced acceleration of somatic CAG expansion. This genetic interaction indicates that functional MLH1 is required for the CAG repeat destabilizing effect of FAN1 loss. Thus, in HD, it is uncertain whether the RRM2B modifier effect on timing of onset may be due to a DNA instability mechanism. In contrast, the FAN1 modifier effects reveal that functional FAN1 acts to suppress somatic CAG repeat expansion, likely in genetic interaction with other DNA instability modifiers whose combined effects can hasten or delay onset and other CAG repeat length-driven phenotypes." @default.
• W3081910414 created "2020-09-08" @default.
• W3081910414 creator A5004193566 @default.
• W3081910414 creator A5015283188 @default.
• W3081910414 creator A5032497606 @default.
• W3081910414 creator A5033506721 @default.
• W3081910414 creator A5044329623 @default.
• W3081910414 creator A5048591919 @default.
• W3081910414 creator A5049541999 @default.
• W3081910414 creator A5057606671 @default.
• W3081910414 creator A5057607242 @default.
• W3081910414 creator A5062303269 @default.
• W3081910414 creator A5069746549 @default.
• W3081910414 creator A5074445567 @default.
• W3081910414 creator A5078273077 @default.
• W3081910414 creator A5088848872 @default.
• W3081910414 creator A5090004774 @default.
• W3081910414 creator A5090343815 @default.
• W3081910414 date "2020-09-02" @default.
• W3081910414 modified "2023-10-15" @default.
• W3081910414 title "Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington’s disease knock-in mice is blocked by Mlh1 knock-out" @default.
• W3081910414 cites W137643597 @default.
• W3081910414 cites W1540158866 @default.
• W3081910414 cites W1831319429 @default.
• W3081910414 cites W1895398290 @default.
• W3081910414 cites W1964764834 @default.
• W3081910414 cites W1965271056 @default.
• W3081910414 cites W1968908684 @default.
• W3081910414 cites W1973055895 @default.
• W3081910414 cites W1977709885 @default.
• W3081910414 cites W1977983193 @default.
• W3081910414 cites W1984069598 @default.
• W3081910414 cites W1985173578 @default.
• W3081910414 cites W1991069902 @default.
• W3081910414 cites W1994285647 @default.
• W3081910414 cites W2009074048 @default.
• W3081910414 cites W2023627547 @default.
• W3081910414 cites W2026802661 @default.
• W3081910414 cites W2036176224 @default.
• W3081910414 cites W2036891087 @default.
• W3081910414 cites W2054046372 @default.
• W3081910414 cites W2080439721 @default.
• W3081910414 cites W2086482792 @default.
• W3081910414 cites W2107416433 @default.
• W3081910414 cites W2118572533 @default.
• W3081910414 cites W2121642311 @default.
• W3081910414 cites W2123275897 @default.
• W3081910414 cites W2133492775 @default.
• W3081910414 cites W2135783352 @default.
• W3081910414 cites W2136082132 @default.
• W3081910414 cites W2147562045 @default.
• W3081910414 cites W2148419070 @default.
• W3081910414 cites W2165377218 @default.
• W3081910414 cites W2165944043 @default.
• W3081910414 cites W2298763150 @default.
• W3081910414 cites W2300845163 @default.
• W3081910414 cites W2342089554 @default.
• W3081910414 cites W2588692718 @default.
• W3081910414 cites W2722517739 @default.
• W3081910414 cites W2737997749 @default.
• W3081910414 cites W2791466251 @default.
• W3081910414 cites W2819511603 @default.
• W3081910414 cites W2887748872 @default.
• W3081910414 cites W2898564835 @default.
• W3081910414 cites W2949670129 @default.
• W3081910414 cites W2969081693 @default.
• W3081910414 cites W2980198285 @default.
• W3081910414 doi "https://doi.org/10.1093/hmg/ddaa196" @default.
• W3081910414 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7645713" @default.
• W3081910414 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32876667" @default.
• W3081910414 hasPublicationYear "2020" @default.
• W3081910414 type Work @default.
• W3081910414 sameAs 3081910414 @default.
• W3081910414 citedByCount "33" @default.
• W3081910414 countsByYear W30819104142020 @default.
• W3081910414 countsByYear W30819104142021 @default.
• W3081910414 countsByYear W30819104142022 @default.
• W3081910414 countsByYear W30819104142023 @default.
• W3081910414 crossrefType "journal-article" @default.
• W3081910414 hasAuthorship W3081910414A5004193566 @default.
• W3081910414 hasAuthorship W3081910414A5015283188 @default.
• W3081910414 hasAuthorship W3081910414A5032497606 @default.
• W3081910414 hasAuthorship W3081910414A5033506721 @default.
• W3081910414 hasAuthorship W3081910414A5044329623 @default.
• W3081910414 hasAuthorship W3081910414A5048591919 @default.
• W3081910414 hasAuthorship W3081910414A5049541999 @default.
• W3081910414 hasAuthorship W3081910414A5057606671 @default.
• W3081910414 hasAuthorship W3081910414A5057607242 @default.
• W3081910414 hasAuthorship W3081910414A5062303269 @default.
• W3081910414 hasAuthorship W3081910414A5069746549 @default.
• W3081910414 hasAuthorship W3081910414A5074445567 @default.
• W3081910414 hasAuthorship W3081910414A5078273077 @default.
• W3081910414 hasAuthorship W3081910414A5088848872 @default.
• W3081910414 hasAuthorship W3081910414A5090004774 @default.
• W3081910414 hasAuthorship W3081910414A5090343815 @default.
• W3081910414 hasBestOaLocation W30819104141 @default.
• W3081910414 hasConcept C104317684 @default.
• W3081910414 hasConcept C126322002 @default.

• next