Matches in SemOpenAlex for { <https://semopenalex.org/work/W2068452052> ?p ?o ?g. }
- W2068452052 endingPage "1356" @default.
- W2068452052 startingPage "1349" @default.
- W2068452052 abstract "With several therapeutic approaches in development for Huntington’s disease, there is a need for easily accessible biomarkers to monitor disease progression and therapy response. We performed next-generation sequencing-based transcriptome analysis of total RNA from peripheral blood of 91 mutation carriers (27 presymptomatic and, 64 symptomatic) and 33 controls. Transcriptome analysis by DeepSAGE identified 167 genes significantly associated with clinical total motor score in Huntington’s disease patients. Relative to previous studies, this yielded novel genes and confirmed previously identified genes, such as H2AFY, an overlap in results that has proven difficult in the past. Pathway analysis showed enrichment of genes of the immune system and target genes of miRNAs, which are downregulated in Huntington’s disease models. Using a highly parallelized microfluidics array chip (Fluidigm), we validated 12 of the top 20 significant genes in our discovery cohort and 7 in a second independent cohort. The five genes (PROK2, ZNF238, AQP9, CYSTM1 and ANXA3) that were validated independently in both cohorts present a candidate biomarker panel for stage determination and therapeutic readout in Huntington’s disease. Finally we suggest a first empiric formula predicting total motor score from the expression levels of our biomarker panel. Our data support the view that peripheral blood is a useful source to identify biomarkers for Huntington’s disease and monitor disease progression in future clinical trials." @default.
- W2068452052 created "2016-06-24" @default.
- W2068452052 creator A5006321682 @default.
- W2068452052 creator A5026121576 @default.
- W2068452052 creator A5032056430 @default.
- W2068452052 creator A5040120668 @default.
- W2068452052 creator A5052688583 @default.
- W2068452052 creator A5053516116 @default.
- W2068452052 creator A5055691889 @default.
- W2068452052 creator A5072900370 @default.
- W2068452052 creator A5081916995 @default.
- W2068452052 creator A5086284294 @default.
- W2068452052 date "2015-01-28" @default.
- W2068452052 modified "2023-10-18" @default.
- W2068452052 title "Huntington’s disease biomarker progression profile identified by transcriptome sequencing in peripheral blood" @default.
- W2068452052 cites W1964944685 @default.
- W2068452052 cites W1966621742 @default.
- W2068452052 cites W1968746842 @default.
- W2068452052 cites W1970988620 @default.
- W2068452052 cites W1971463472 @default.
- W2068452052 cites W1974897920 @default.
- W2068452052 cites W1982561453 @default.
- W2068452052 cites W1983085051 @default.
- W2068452052 cites W1995595874 @default.
- W2068452052 cites W2001003536 @default.
- W2068452052 cites W2002006123 @default.
- W2068452052 cites W2006623685 @default.
- W2068452052 cites W2006872992 @default.
- W2068452052 cites W2008594900 @default.
- W2068452052 cites W2014578307 @default.
- W2068452052 cites W2021733365 @default.
- W2068452052 cites W2025943989 @default.
- W2068452052 cites W2041199873 @default.
- W2068452052 cites W2045275016 @default.
- W2068452052 cites W2051156300 @default.
- W2068452052 cites W2055998713 @default.
- W2068452052 cites W2056933088 @default.
- W2068452052 cites W2057269950 @default.
- W2068452052 cites W2060873702 @default.
- W2068452052 cites W2062872865 @default.
- W2068452052 cites W2065631407 @default.
- W2068452052 cites W2065849817 @default.
- W2068452052 cites W2068402984 @default.
- W2068452052 cites W2077405355 @default.
- W2068452052 cites W2078016197 @default.
- W2068452052 cites W2078305553 @default.
- W2068452052 cites W2100536066 @default.
- W2068452052 cites W2109148669 @default.
- W2068452052 cites W2113661629 @default.
- W2068452052 cites W2115999215 @default.
- W2068452052 cites W2116166762 @default.
- W2068452052 cites W2118069309 @default.
- W2068452052 cites W2119191573 @default.
- W2068452052 cites W2121619336 @default.
- W2068452052 cites W2132121416 @default.
- W2068452052 cites W2137526110 @default.
- W2068452052 cites W2143929320 @default.
- W2068452052 cites W2146103593 @default.
- W2068452052 cites W2147464891 @default.
- W2068452052 cites W2147641083 @default.
- W2068452052 cites W2148287938 @default.
- W2068452052 cites W2149248612 @default.
- W2068452052 cites W2151190344 @default.
- W2068452052 cites W2153397253 @default.
- W2068452052 cites W2155926477 @default.
- W2068452052 cites W2156809732 @default.
- W2068452052 cites W2159699594 @default.
- W2068452052 cites W2160748841 @default.
- W2068452052 cites W2172052253 @default.
- W2068452052 doi "https://doi.org/10.1038/ejhg.2014.281" @default.
- W2068452052 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4592077" @default.
- W2068452052 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/25626709" @default.
- W2068452052 hasPublicationYear "2015" @default.
- W2068452052 type Work @default.
- W2068452052 sameAs 2068452052 @default.
- W2068452052 citedByCount "68" @default.
- W2068452052 countsByYear W20684520522015 @default.
- W2068452052 countsByYear W20684520522016 @default.
- W2068452052 countsByYear W20684520522017 @default.
- W2068452052 countsByYear W20684520522018 @default.
- W2068452052 countsByYear W20684520522019 @default.
- W2068452052 countsByYear W20684520522020 @default.
- W2068452052 countsByYear W20684520522021 @default.
- W2068452052 countsByYear W20684520522022 @default.
- W2068452052 countsByYear W20684520522023 @default.
- W2068452052 crossrefType "journal-article" @default.
- W2068452052 hasAuthorship W2068452052A5006321682 @default.
- W2068452052 hasAuthorship W2068452052A5026121576 @default.
- W2068452052 hasAuthorship W2068452052A5032056430 @default.
- W2068452052 hasAuthorship W2068452052A5040120668 @default.
- W2068452052 hasAuthorship W2068452052A5052688583 @default.
- W2068452052 hasAuthorship W2068452052A5053516116 @default.
- W2068452052 hasAuthorship W2068452052A5055691889 @default.
- W2068452052 hasAuthorship W2068452052A5072900370 @default.
- W2068452052 hasAuthorship W2068452052A5081916995 @default.
- W2068452052 hasAuthorship W2068452052A5086284294 @default.
- W2068452052 hasBestOaLocation W20684520521 @default.
- W2068452052 hasConcept C104317684 @default.