FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2100591042> ?p ?o ?g. }

• W2100591042 endingPage "1142" @default.
• W2100591042 startingPage "1133" @default.
• W2100591042 abstract "Huntington disease is caused by the expansion of a CAG repeat encoding an extended glutamine tract in a protein called huntingtin. Here, we provide evidence supporting the hypothesis that somatic increases of mutation length play a role in the progressive nature and cell-selective aspects of HD pathogenesis. Results from micro-dissected tissue and individual laser-dissected cells obtained from human HD cases and knock-in HD mice indicate that the CAG repeat is unstable in all cell types tested although neurons tend to have longer mutation length gains than glia. Mutation length gains occur early in the disease process and continue to accumulate as the disease progresses. In keeping with observed patterns of cell loss, neuronal mutation length gains tend to be more prominent in the striatum than in the cortex of low-grade human HD cases, less so in more advanced cases. Interestingly, neuronal sub-populations of HD mice appear to have different propensities for mutation length gains; in particular, smaller mutation length gains occur in nitric oxide synthase-positive striatal interneurons (a relatively spared cell type in HD) compared with the pan-striatal neuronal population. More generally, the data demonstrate that neuronal changes in HD repeat length can be at least as great, if not greater, than those observed in the germline. The fact that significant CAG repeat length gains occur in non-replicating cells also argues that processes such as inappropriate mismatch repair rather than DNA replication are involved in generating mutation instability in HD brain tissue." @default.
• W2100591042 created "2016-06-24" @default.
• W2100591042 creator A5001173511 @default.
• W2100591042 creator A5013490567 @default.
• W2100591042 creator A5013748708 @default.
• W2100591042 creator A5017119421 @default.
• W2100591042 creator A5026333864 @default.
• W2100591042 creator A5047848562 @default.
• W2100591042 creator A5057071985 @default.
• W2100591042 creator A5079568269 @default.
• W2100591042 creator A5079914602 @default.
• W2100591042 creator A5086877012 @default.
• W2100591042 date "2007-04-04" @default.
• W2100591042 modified "2023-10-01" @default.
• W2100591042 title "Triplet repeat mutation length gains correlate with cell-type specific vulnerability in Huntington disease brain" @default.
• W2100591042 cites W1490199421 @default.
• W2100591042 cites W1606672690 @default.
• W2100591042 cites W1698361959 @default.
• W2100591042 cites W1975464681 @default.
• W2100591042 cites W1975501457 @default.
• W2100591042 cites W1986594553 @default.
• W2100591042 cites W1989129533 @default.
• W2100591042 cites W1999783230 @default.
• W2100591042 cites W2004070915 @default.
• W2100591042 cites W2021260278 @default.
• W2100591042 cites W2033475452 @default.
• W2100591042 cites W2042300250 @default.
• W2100591042 cites W2058480023 @default.
• W2100591042 cites W2062102056 @default.
• W2100591042 cites W2076709597 @default.
• W2100591042 cites W2082056883 @default.
• W2100591042 cites W2084620265 @default.
• W2100591042 cites W2088984252 @default.
• W2100591042 cites W2098670658 @default.
• W2100591042 cites W2106397861 @default.
• W2100591042 cites W2112793851 @default.
• W2100591042 cites W2116449089 @default.
• W2100591042 cites W2119588553 @default.
• W2100591042 cites W2121642311 @default.
• W2100591042 cites W2122131368 @default.
• W2100591042 cites W2122931341 @default.
• W2100591042 cites W2142710492 @default.
• W2100591042 cites W2146213502 @default.
• W2100591042 cites W2168936357 @default.
• W2100591042 cites W2415805387 @default.
• W2100591042 cites W4236219503 @default.
• W2100591042 cites W4378744814 @default.
• W2100591042 cites W59032033 @default.
• W2100591042 doi "https://doi.org/10.1093/hmg/ddm054" @default.
• W2100591042 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/17409200" @default.
• W2100591042 hasPublicationYear "2007" @default.
• W2100591042 type Work @default.
• W2100591042 sameAs 2100591042 @default.
• W2100591042 citedByCount "165" @default.
• W2100591042 countsByYear W21005910422012 @default.
• W2100591042 countsByYear W21005910422013 @default.
• W2100591042 countsByYear W21005910422014 @default.
• W2100591042 countsByYear W21005910422015 @default.
• W2100591042 countsByYear W21005910422016 @default.
• W2100591042 countsByYear W21005910422017 @default.
• W2100591042 countsByYear W21005910422018 @default.
• W2100591042 countsByYear W21005910422019 @default.
• W2100591042 countsByYear W21005910422020 @default.
• W2100591042 countsByYear W21005910422021 @default.
• W2100591042 countsByYear W21005910422022 @default.
• W2100591042 countsByYear W21005910422023 @default.
• W2100591042 crossrefType "journal-article" @default.
• W2100591042 hasAuthorship W2100591042A5001173511 @default.
• W2100591042 hasAuthorship W2100591042A5013490567 @default.
• W2100591042 hasAuthorship W2100591042A5013748708 @default.
• W2100591042 hasAuthorship W2100591042A5017119421 @default.
• W2100591042 hasAuthorship W2100591042A5026333864 @default.
• W2100591042 hasAuthorship W2100591042A5047848562 @default.
• W2100591042 hasAuthorship W2100591042A5057071985 @default.
• W2100591042 hasAuthorship W2100591042A5079568269 @default.
• W2100591042 hasAuthorship W2100591042A5079914602 @default.
• W2100591042 hasAuthorship W2100591042A5086877012 @default.
• W2100591042 hasBestOaLocation W21005910421 @default.
• W2100591042 hasConcept C102306862 @default.
• W2100591042 hasConcept C104317684 @default.
• W2100591042 hasConcept C126322002 @default.
• W2100591042 hasConcept C134305767 @default.
• W2100591042 hasConcept C143065580 @default.
• W2100591042 hasConcept C144024400 @default.
• W2100591042 hasConcept C149923435 @default.
• W2100591042 hasConcept C166252455 @default.
• W2100591042 hasConcept C180754005 @default.
• W2100591042 hasConcept C2779134260 @default.
• W2100591042 hasConcept C2780647506 @default.
• W2100591042 hasConcept C2781427258 @default.
• W2100591042 hasConcept C2908647359 @default.
• W2100591042 hasConcept C2910011555 @default.
• W2100591042 hasConcept C501734568 @default.
• W2100591042 hasConcept C54355233 @default.
• W2100591042 hasConcept C71924100 @default.
• W2100591042 hasConcept C86803240 @default.
• W2100591042 hasConceptScore W2100591042C102306862 @default.
• W2100591042 hasConceptScore W2100591042C104317684 @default.

• next