Evidence map›Paper›PMID 38267456›Full record

ArticleScientific data2024

DNA methylome, R-loop and clinical exome profiling of patients with sporadic amyotrophic lateral sclerosis.

Orsolya Feró, Dóra Varga, Éva Nagy, Zsolt Karányi, Éva Sipos, József Engelhardt, Nóra Török, István Balogh, Borbála Vető, István Likó and 6 more

Abstract readDataset
In one paragraph

Article in Scientific data, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Article
  2. A multi-omics study on monozygotic twins discordant for amyotrophic lateral sclerosis and literature review underline a potential role for innate immunity and epigenetic dysregulation in disease mechanisms.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026
    Review
  3. Review
  4. Beyond the Synapse:International journal of molecular sciences · 2024
    Review
  5. Chromosomal R-loops: who R they?Biologia futura · 2024
    Review
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.

Orsolya Feró *MTA-DE Momentum, Genome Architecture and Recombination Research Group, Department of Molecular and Nanopharmaceutics, Faculty of Pharmacy, University of Debrecen, H-4032, Debrecen, Hungary.
Dóra Varga *MTA-DE Momentum, Genome Architecture and Recombination Research Group, Department of Molecular and Nanopharmaceutics, Faculty of Pharmacy, University of Debrecen, H-4032, Debrecen, Hungary.
Éva NagyMTA-DE Momentum, Genome Architecture and Recombination Research Group, Department of Molecular and Nanopharmaceutics, Faculty of Pharmacy, University of Debrecen, H-4032, Debrecen, Hungary.
Zsolt KarányiMTA-DE Momentum, Genome Architecture and Recombination Research Group, Department of Molecular and Nanopharmaceutics, Faculty of Pharmacy, University of Debrecen, H-4032, Debrecen, Hungary.
Éva SiposMTA-DE Momentum, Genome Architecture and Recombination Research Group, Department of Molecular and Nanopharmaceutics, Faculty of Pharmacy, University of Debrecen, H-4032, Debrecen, Hungary.
József EngelhardtDepartment of Neurology, Albert Szent-Györgyi Medical School, University of Szeged, Szeged, Hungary.
Nóra TörökDepartment of Neurology, Albert Szent-Györgyi Medical School, University of Szeged, Szeged, Hungary.
István BaloghDivision of Clinical Genetics, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, H-4032, Debrecen, Hungary.
Borbála VetőDivision of Clinical Genetics, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, H-4032, Debrecen, Hungary.
István LikóInstitute of Enzymology, Research Centre for Natural Sciences, Budapest, Hungary.
Ábel FóthiInstitute of Enzymology, Research Centre for Natural Sciences, Budapest, Hungary.ORCID 0000-0001-7398-9700
Zoltán SzabóDepartment of Emergency Medicine, Faculty of Medicine, University of Debrecen, H-4032, Debrecen, Hungary.
Gábor HalmosDepartment of Biopharmacy, Faculty of Pharmacy, University of Debrecen, H-4032, Debrecen, Hungary.
László VécseiDepartment of Neurology, Albert Szent-Györgyi Medical School, University of Szeged, Szeged, Hungary.
Tamás ArányiInstitute of Enzymology, Research Centre for Natural Sciences, Budapest, Hungary. aranyi.tamas@ttk.hu.
Lóránt SzékvölgyiMTA-DE Momentum, Genome Architecture and Recombination Research Group, Department of Molecular and Nanopharmaceutics, Faculty of Pharmacy, University of Debrecen, H-4032, Debrecen, Hungary. lorantsz@med.unideb.hu.ORCID 0000-0002-7529-0319

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder characterized by the death of motor neurons, the aetiology of which is essentially unknown. Here, we present an integrative epigenomic study in blood samples from seven clinically characterised sporadic ALS patients to elucidate molecular factors associated with the disease. We used clinical exome sequencing (CES) to study DNA variants, DNA-RNA hybrid immunoprecipitation sequencing (DRIP-seq) to assess R-loop distribution, and reduced representation bisulfite sequencing (RRBS) to examine DNA methylation changes. The above datasets were combined to create a comprehensive repository of genetic and epigenetic changes associated with the ALS cases studied. This repository is well-suited to unveil new correlations within individual patients and across the entire patient cohort. The molecular attributes described here are expected to guide further mechanistic studies on ALS, shedding light on the underlying genetic causes and facilitating the development of new epigenetic therapies to combat this life-threatening disease.

Indexed as

Amyotrophic Lateral SclerosisDNA MethylationDNAEpigenomeExomeHumansR-Loop StructuresDNA

Identifiers

PMID38267456
PMCPMC10808109

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.