Evidence map›Paper›PMID 39635126›Full record

ArticleiScience2024

Copy-number dosage regulates telomere maintenance and disease-associated pathways in neuroblastoma.

Martin Burkert, Eric Blanc, Nina Thiessen, Christiane Weber, Joern Toedling, Remo Monti, Victoria M Dombrowe, Maria Stella de Biase, Tom L Kaufmann, Kerstin Haase and 6 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in iScience, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

16 authors.

Martin BurkertDepartment of Biology, Humboldt University, Berlin, Germany.
Eric BlancCore Unit Bioinformatics, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Charitéplatz 1, Berlin, Germany.
Nina ThiessenCore Unit Bioinformatics, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Charitéplatz 1, Berlin, Germany.
Christiane WeberDepartment of Biology, Humboldt University, Berlin, Germany.
Joern ToedlingDepartment of Pediatric Oncology/Hematology, Charité-Universitätsmedizin Berlin, Berlin, Germany.
Remo MontiBerlin Institute for Medical Systems Biology, Max-Delbrück Center for Molecular Medicine in the Helmholtz Association, Berlin, Germany.
Victoria M DombroweBerlin Institute for Medical Systems Biology, Max-Delbrück Center for Molecular Medicine in the Helmholtz Association, Berlin, Germany.
Maria Stella de BiaseDepartment of Biology, Humboldt University, Berlin, Germany.
Tom L KaufmannBerlin Institute for Medical Systems Biology, Max-Delbrück Center for Molecular Medicine in the Helmholtz Association, Berlin, Germany.
Kerstin HaaseDepartment of Pediatric Oncology/Hematology, Charité-Universitätsmedizin Berlin, Berlin, Germany.
Sebastian M WaszakCentre for Molecular Medicine Norway (NCMM), Nordic EMBL Partnership, University of Oslo and Oslo University Hospital, Oslo, Norway.
Angelika EggertDepartment of Pediatric Oncology/Hematology, Charité-Universitätsmedizin Berlin, Berlin, Germany.
Dieter BeuleCore Unit Bioinformatics, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Charitéplatz 1, Berlin, Germany.
Johannes H SchulteDepartment of Pediatric Oncology/Hematology, Charité-Universitätsmedizin Berlin, Berlin, Germany.
Uwe OhlerDepartment of Biology, Humboldt University, Berlin, Germany.
Roland F SchwarzBerlin Institute for Medical Systems Biology, Max-Delbrück Center for Molecular Medicine in the Helmholtz Association, Berlin, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Telomere maintenance in neuroblastoma is linked to poor outcome and caused by either telomerase reverse transcriptase (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

Indexed as

Cell biologyGenomicsMolecular biologyTranscriptomics

Identifiers

PMID39635126
PMCPMC11615189

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.