Matches in SemOpenAlex for { <https://semopenalex.org/work/W4293871567> ?p ?o ?g. }
- W4293871567 abstract "ABSTRACT Telomere maintenance in neuroblastoma is linked to poor outcome and caused by either TERT activation or through alternative lengthening of telomeres (ALT). In contrast to TERT activation, commonly caused by genomic rearrangements or MYCN amplification, ALT is less well understood. Alterations at the ATRX locus are key drivers of ALT but only present in ∼50% of ALT tumors. To identify potential new pathways to telomere maintenance, we investigate allele-specific gene dosage effects from whole genomes and transcriptomes in 115 primary neuroblastomas. We show that copy-number dosage deregulates telomere maintenance, genomic stability, and neuronal pathways and identify upregulation of variants of histone H3 and H2A as a potential alternative pathway to ALT. We investigate the interplay between TERT activation, overexpression and copy-number dosage and reveal loss of imprinting at the RTL1 gene associated with poor clinical outcome. These results highlight the importance of gene dosage in key oncogenic mechanisms in neuroblastoma." @default.
- W4293871567 created "2022-09-01" @default.
- W4293871567 creator A5000077668 @default.
- W4293871567 creator A5013747515 @default.
- W4293871567 creator A5014948069 @default.
- W4293871567 creator A5027381504 @default.
- W4293871567 creator A5032186804 @default.
- W4293871567 creator A5040534949 @default.
- W4293871567 creator A5045817336 @default.
- W4293871567 creator A5046622096 @default.
- W4293871567 creator A5048456384 @default.
- W4293871567 creator A5059343286 @default.
- W4293871567 creator A5061221805 @default.
- W4293871567 creator A5064391109 @default.
- W4293871567 creator A5069018848 @default.
- W4293871567 creator A5080966614 @default.
- W4293871567 creator A5081872336 @default.
- W4293871567 creator A5084264015 @default.
- W4293871567 date "2022-08-16" @default.
- W4293871567 modified "2023-10-16" @default.
- W4293871567 title "Copy-number dosage regulates telomere maintenance and disease-associated pathways in neuroblastoma" @default.
- W4293871567 cites W1565365142 @default.
- W4293871567 cites W1600373583 @default.
- W4293871567 cites W1899148250 @default.
- W4293871567 cites W1915238740 @default.
- W4293871567 cites W1970916644 @default.
- W4293871567 cites W1973285273 @default.
- W4293871567 cites W1975270021 @default.
- W4293871567 cites W1976274498 @default.
- W4293871567 cites W1982939999 @default.
- W4293871567 cites W1983507216 @default.
- W4293871567 cites W1986009297 @default.
- W4293871567 cites W1992541603 @default.
- W4293871567 cites W1995105508 @default.
- W4293871567 cites W2001721754 @default.
- W4293871567 cites W2006288875 @default.
- W4293871567 cites W2019567355 @default.
- W4293871567 cites W2024280594 @default.
- W4293871567 cites W2024531852 @default.
- W4293871567 cites W2026247210 @default.
- W4293871567 cites W2034474631 @default.
- W4293871567 cites W2042395157 @default.
- W4293871567 cites W2043485161 @default.
- W4293871567 cites W2045507892 @default.
- W4293871567 cites W2056155872 @default.
- W4293871567 cites W2062062519 @default.
- W4293871567 cites W2063381057 @default.
- W4293871567 cites W2070604281 @default.
- W4293871567 cites W2077706834 @default.
- W4293871567 cites W2084811286 @default.
- W4293871567 cites W2104337990 @default.
- W4293871567 cites W2117679740 @default.
- W4293871567 cites W2117692326 @default.
- W4293871567 cites W2122421800 @default.
- W4293871567 cites W2126261185 @default.
- W4293871567 cites W2132546867 @default.
- W4293871567 cites W2136102567 @default.
- W4293871567 cites W2136245178 @default.
- W4293871567 cites W2140360759 @default.
- W4293871567 cites W2144999788 @default.
- W4293871567 cites W2150823346 @default.
- W4293871567 cites W2151042319 @default.
- W4293871567 cites W2156509269 @default.
- W4293871567 cites W2157762137 @default.
- W4293871567 cites W2158233796 @default.
- W4293871567 cites W2159115343 @default.
- W4293871567 cites W2169640176 @default.
- W4293871567 cites W2234333505 @default.
- W4293871567 cites W2258476076 @default.
- W4293871567 cites W2259937992 @default.
- W4293871567 cites W2344518204 @default.
- W4293871567 cites W2522895022 @default.
- W4293871567 cites W2532734448 @default.
- W4293871567 cites W2559776465 @default.
- W4293871567 cites W2604498317 @default.
- W4293871567 cites W2613773167 @default.
- W4293871567 cites W2768935185 @default.
- W4293871567 cites W2898789672 @default.
- W4293871567 cites W2902229746 @default.
- W4293871567 cites W2904824548 @default.
- W4293871567 cites W2923032782 @default.
- W4293871567 cites W2995298529 @default.
- W4293871567 cites W3004498009 @default.
- W4293871567 cites W3005445761 @default.
- W4293871567 cites W3005477834 @default.
- W4293871567 cites W3005974465 @default.
- W4293871567 cites W3015602128 @default.
- W4293871567 cites W3092520164 @default.
- W4293871567 cites W3097650579 @default.
- W4293871567 cites W3102147861 @default.
- W4293871567 cites W3121760350 @default.
- W4293871567 cites W3128374930 @default.
- W4293871567 cites W3132931888 @default.
- W4293871567 cites W3196894178 @default.
- W4293871567 cites W3212807134 @default.
- W4293871567 cites W4211147182 @default.
- W4293871567 cites W4214864685 @default.
- W4293871567 cites W4226418904 @default.
- W4293871567 doi "https://doi.org/10.1101/2022.08.16.504100" @default.
- W4293871567 hasPublicationYear "2022" @default.