FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4285014148> ?p ?o ?g. }

• W4285014148 endingPage "100130" @default.
• W4285014148 startingPage "100130" @default.
• W4285014148 abstract "Huntington disease (HD)is a dominantly inherited neurodegenerative disorder caused by the expansion of a polyglutamine encoding CAG repeat in the huntingtin gene. Recently, it has been established that disease severity in HD is best predicted by the number of pure CAG repeats rather than total glutamines encoded. Along with uncovering DNA repair gene variants as trans-acting modifiers of HD severity, these data reveal somatic expansion of the CAG repeat as a key driver of HD onset. Using high-throughput DNA sequencing, we have determined the precise sequence and somatic expansion profiles of the HTT repeat tract of 68 HD-affected and 158 HD-unaffected African ancestry individuals. A high level of HTT repeat sequence diversity was observed, with three likely African-specific alleles identified. In the most common disease allele (30 out of 68), the typical proline-encoding CCGCCA sequence was absent. This CCGCCA-loss disease allele was associated with an earlier age of diagnosis of approximately 7.1 years and occurred exclusively on haplotype B2. Although somatic expansion was associated with an earlier age of diagnosis in the study overall, the CCGCCA-loss disease allele displayed reduced somatic expansion relative to the typical HTT expansions in blood DNA. We propose that the CCGCCA loss occurring on haplotype B2 is an African cis-acting modifier that appears to alter disease diagnosis of HD through a mechanism that is not driven by somatic expansion. The assessment of a group of individuals from an understudied population has highlighted population-specific differences that emphasize the importance of studying genetically diverse populations in the context of disease." @default.
• W4285014148 created "2022-07-12" @default.
• W4285014148 creator A5013210478 @default.
• W4285014148 creator A5039204991 @default.
• W4285014148 creator A5040897428 @default.
• W4285014148 creator A5059630526 @default.
• W4285014148 creator A5075254598 @default.
• W4285014148 creator A5086047800 @default.
• W4285014148 date "2022-10-01" @default.
• W4285014148 modified "2023-10-10" @default.
• W4285014148 title "A probable cis-acting genetic modifier of Huntington disease frequent in individuals with African ancestry" @default.
• W4285014148 cites W1529591158 @default.
• W4285014148 cites W154513113 @default.
• W4285014148 cites W1920150925 @default.
• W4285014148 cites W1970972148 @default.
• W4285014148 cites W1986594553 @default.
• W4285014148 cites W1994285647 @default.
• W4285014148 cites W2001087751 @default.
• W4285014148 cites W2010373677 @default.
• W4285014148 cites W2012389333 @default.
• W4285014148 cites W2037288066 @default.
• W4285014148 cites W2045536918 @default.
• W4285014148 cites W2058448931 @default.
• W4285014148 cites W2078515086 @default.
• W4285014148 cites W2083878136 @default.
• W4285014148 cites W2084271883 @default.
• W4285014148 cites W2086344973 @default.
• W4285014148 cites W2087157508 @default.
• W4285014148 cites W2087882765 @default.
• W4285014148 cites W2088045333 @default.
• W4285014148 cites W2104549677 @default.
• W4285014148 cites W2110755408 @default.
• W4285014148 cites W2119588553 @default.
• W4285014148 cites W2121642311 @default.
• W4285014148 cites W2122285349 @default.
• W4285014148 cites W2123275897 @default.
• W4285014148 cites W2123331715 @default.
• W4285014148 cites W2136681862 @default.
• W4285014148 cites W2143237558 @default.
• W4285014148 cites W2166320441 @default.
• W4285014148 cites W2167093496 @default.
• W4285014148 cites W2169098034 @default.
• W4285014148 cites W2169735361 @default.
• W4285014148 cites W2181090621 @default.
• W4285014148 cites W2280935350 @default.
• W4285014148 cites W2553499018 @default.
• W4285014148 cites W2609055977 @default.
• W4285014148 cites W2775465508 @default.
• W4285014148 cites W2790464561 @default.
• W4285014148 cites W2810377318 @default.
• W4285014148 cites W2902809308 @default.
• W4285014148 cites W2946004735 @default.
• W4285014148 cites W2969081693 @default.
• W4285014148 cites W2980198285 @default.
• W4285014148 cites W3046269047 @default.
• W4285014148 cites W3151947519 @default.
• W4285014148 cites W3206957765 @default.
• W4285014148 cites W4223421933 @default.
• W4285014148 doi "https://doi.org/10.1016/j.xhgg.2022.100130" @default.
• W4285014148 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35935919" @default.
• W4285014148 hasPublicationYear "2022" @default.
• W4285014148 type Work @default.
• W4285014148 citedByCount "1" @default.
• W4285014148 countsByYear W42850141482022 @default.
• W4285014148 crossrefType "journal-article" @default.
• W4285014148 hasAuthorship W4285014148A5013210478 @default.
• W4285014148 hasAuthorship W4285014148A5039204991 @default.
• W4285014148 hasAuthorship W4285014148A5040897428 @default.
• W4285014148 hasAuthorship W4285014148A5059630526 @default.
• W4285014148 hasAuthorship W4285014148A5075254598 @default.
• W4285014148 hasAuthorship W4285014148A5086047800 @default.
• W4285014148 hasBestOaLocation W42850141481 @default.
• W4285014148 hasConcept C104317684 @default.
• W4285014148 hasConcept C126322002 @default.
• W4285014148 hasConcept C134305767 @default.
• W4285014148 hasConcept C143065580 @default.
• W4285014148 hasConcept C166252455 @default.
• W4285014148 hasConcept C180754005 @default.
• W4285014148 hasConcept C197754878 @default.
• W4285014148 hasConcept C2777616661 @default.
• W4285014148 hasConcept C2779134260 @default.
• W4285014148 hasConcept C2780647506 @default.
• W4285014148 hasConcept C2781427258 @default.
• W4285014148 hasConcept C2908647359 @default.
• W4285014148 hasConcept C37463918 @default.
• W4285014148 hasConcept C54355233 @default.
• W4285014148 hasConcept C71924100 @default.
• W4285014148 hasConcept C86803240 @default.
• W4285014148 hasConcept C99454951 @default.
• W4285014148 hasConceptScore W4285014148C104317684 @default.
• W4285014148 hasConceptScore W4285014148C126322002 @default.
• W4285014148 hasConceptScore W4285014148C134305767 @default.
• W4285014148 hasConceptScore W4285014148C143065580 @default.
• W4285014148 hasConceptScore W4285014148C166252455 @default.
• W4285014148 hasConceptScore W4285014148C180754005 @default.
• W4285014148 hasConceptScore W4285014148C197754878 @default.
• W4285014148 hasConceptScore W4285014148C2777616661 @default.
• W4285014148 hasConceptScore W4285014148C2779134260 @default.

• next