Evidence map›Paper›PMID 41419455›Full record

ArticleCell death discovery2025

Novel mutations in the RECQL4 gene affect its helicase functions, interactions with the BLM helicase and chemotherapeutics-induced cell death.

Agnieszka Kaczmarczyk, Mikolaj Sokolowski, Kamil Wojnicki, Marta Pabis, Bartosz Wojtas, Iwona A Ciechomska, Katarzyna Poleszak, Bartlomiej Gielniewski, Sylwia K Król, Matthew Guille and 2 more

Abstract read
In one paragraph

Article in Cell death discovery, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

12 authors.

Agnieszka Kaczmarczyk *Laboratory of Molecular Neurobiology, Nencki Institute of Experimental Biology of the Polish Academy of Sciences, Warsaw, Poland.
Mikolaj Sokolowski *Malopolska Centre of Biotechnology, Jagiellonian University, Kraków, Poland.
Kamil Wojnicki *Laboratory of Molecular Neurobiology, Nencki Institute of Experimental Biology of the Polish Academy of Sciences, Warsaw, Poland.ORCID http://orcid.org/0000-0002-1630-4389
Marta PabisMalopolska Centre of Biotechnology, Jagiellonian University, Kraków, Poland.ORCID http://orcid.org/0000-0001-7394-5206
Bartosz WojtasLaboratory of Sequencing, Nencki Institute of Experimental Biology of the Polish Academy of Sciences, Warsaw, Poland.
Iwona A CiechomskaLaboratory of Molecular Neurobiology, Nencki Institute of Experimental Biology of the Polish Academy of Sciences, Warsaw, Poland.
Katarzyna PoleszakLaboratory of Molecular Neurobiology, Nencki Institute of Experimental Biology of the Polish Academy of Sciences, Warsaw, Poland.
Bartlomiej GielniewskiLaboratory of Sequencing, Nencki Institute of Experimental Biology of the Polish Academy of Sciences, Warsaw, Poland.
Sylwia K KrólLaboratory of Molecular Neurobiology, Nencki Institute of Experimental Biology of the Polish Academy of Sciences, Warsaw, Poland.
Matthew GuilleEuropean Xenopus Resource, School of Biological Sciences, University of Portsmouth, Portsmouth, PO1 2UP, United Kingdom.
Sebastian GlattMalopolska Centre of Biotechnology, Jagiellonian University, Kraków, Poland. Sebastianglatt@uj.edu.pl.ORCID http://orcid.org/0000-0003-2815-7133
Bozena KaminskaLaboratory of Molecular Neurobiology, Nencki Institute of Experimental Biology of the Polish Academy of Sciences, Warsaw, Poland. b.kaminska@nencki.edu.pl.ORCID http://orcid.org/0000-0002-2642-4616

Funding

Narodowe Centrum Nauki (National Science Centre) 2015/19/N/NZ3/02374Narodowe Centrum Nauki (National Science Centre) 2016/22/M/NZ3/00679
6 · The paper itself

Abstract

RecQ family of DNA helicases play pivotal roles in DNA replication, repair and responses to DNA damage or replication stress. Several human RecQ helicases are defective in diseases associated with chromosomal instability, premature aging and cancer. We recently discovered novel mutations in the RECQL4 gene in glioblastoma (GBM), the most malignant brain tumor in adults. Transcriptomic profiles of GBMs with REQCL4 mutations resembled those in REQCL4 KO glioma cells. We employ structural modelling and biochemical approaches to elucidate impacts of novel mutations on RECQL4 helicase activities. Using recombinant RECQL4

Identifiers

PMID41419455
PMCPMC12717039

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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.