Evidence map›Paper›PMID 37130727›Full record

ArticleAnnals of the rheumatic diseases2023

Transcriptional derepression of CHD4/NuRD-regulated genes in the muscle of patients with dermatomyositis and anti-Mi2 autoantibodies.

Iago Pinal-Fernandez, Jose Cesar Milisenda, Katherine Pak, Sandra Muñoz-Braceras, Maria Casal-Dominguez, Jiram Torres-Ruiz, Stefania Dell'Orso, Faiza Naz, Gustavo Gutierrez-Cruz, Yaiza Duque-Jaimez and 14 more

Open access · greenAbstract read
In one paragraph

Article in Annals of the rheumatic diseases, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.

0numbers the graph read from it
0cells of the map it votes in
29citing papers in PubMed
7.1field-weighted citation impact, top 2% of its field
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

29 citing papers in PubMed, 33 citations in OpenAlex.

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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

24 authors at 6 institutions in 3 countries.

Iago Pinal-Fernandez *Muscle Disease Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA iago.pinalfernandez@nih.gov andrew.mammen@nih.gov.ORCID 0000-0001-6338-9218
Jose Cesar Milisenda *Muscle Disease Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA.
Katherine Pak *Muscle Disease Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA.
Sandra Muñoz-Braceras *Muscle Disease Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA.
Maria Casal-DominguezMuscle Disease Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA.
Jiram Torres-RuizMuscle Disease Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA.
Stefania Dell'OrsoMuscle Disease Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA.
Faiza NazMuscle Disease Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA.
Gustavo Gutierrez-CruzMuscle Disease Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA.
Yaiza Duque-JaimezMuscle Research Unit, Internal Medicine Service, Hospital Clinic, Barcelona, Spain.
Ana Matas-GarciaMuscle Research Unit, Internal Medicine Service, Hospital Clinic, Barcelona, Spain.
Joan PadrosaCIBERER, Barcelona, Spain.
Francesc J Garcia-GarciaMuscle Research Unit, Internal Medicine Service, Hospital Clinic, Barcelona, Spain.
Mariona Guitart-MampelMuscle Research Unit, Internal Medicine Service, Hospital Clinic, Barcelona, Spain.
Gloria GarrabouMuscle Research Unit, Internal Medicine Service, Hospital Clinic, Barcelona, Spain.
Ernesto Trallero-AraguásRheumatology Department, Vall d'Hebron Hospital, Barcelona, Spain.
Brian WalittNational Institute of Neurological Diseases and Stroke, National Institutes of Health, Bethesda, Maryland, USA.
Julie J PaikDepartment of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.ORCID 0000-0001-8436-1601
Jemima AlbaydaDepartment of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Lisa Christopher-StineDepartment of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Thomas E LloydDepartment of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Josep Maria Grau-JunyentMuscle Research Unit, Internal Medicine Service, Hospital Clinic, Barcelona, Spain.
Albert Selva-O'CallaghanSystemic Autoimmune Disease Unit, Vall d'Hebron Institute of Research, Barcelona, Spain.ORCID 0000-0003-2823-9761
Andrew Lee MammenMuscle Disease Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA iago.pinalfernandez@nih.gov andrew.mammen@nih.gov.ORCID 0000-0003-3732-3252
National Institutes of Health · USCentre for Biomedical Network Research on Rare Diseases · ESJohns Hopkins University · USHospital Clínic de Barcelona · ESUniversitat Autònoma de Barcelona · ESVall d'Hebron Hospital Universitari · ES

Funding

Muscle Disease UnitZIAAR041203 · NIAMS · NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES · PI MAMMEN, ANDREW · 2015 to 2025
$19.7M
Post-Viral SyndromesZIANS003157 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI NATH, AVINDRA · 2016 to 2025
$13.5M
High Throughput Next Generation Sequencing: supports genomics and epigenomics research in muscle, skin, bone and autoimmune diseases.ZICAR041207 · NIAMS · NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES · PI DELL'ORSO, STEFANIA · 2016 to 2025
$12.3M
Intramural NIH HHS Z99 AR999999
6 · The paper itself

Abstract

objectivesMyositis is a heterogeneous family of diseases including dermatomyositis (DM), immune-mediated necrotising myopathy (IMNM), antisynthetase syndrome (AS) and inclusion body myositis (IBM). Myositis-specific autoantibodies define different subtypes of myositis. For example, patients with anti-Mi2 autoantibodies targeting the chromodomain helicase DNA-binding protein 4 (CHD4)/NuRD complex (a transcriptional repressor) have more severe muscle disease than other DM patients. This study aimed to define the transcriptional profile of muscle biopsies from anti-Mi2-positive DM patients.

methodsRNA sequencing was performed on muscle biopsies (n=171) from patients with anti-Mi2-positive DM (n=18), DM without anti-Mi2 autoantibodies (n=32), AS (n=18), IMNM (n=54) and IBM (n=16) as well as 33 normal muscle biopsies. Genes specifically upregulated in anti-Mi2-positive DM were identified. Muscle biopsies were stained for human immunoglobulin and protein products corresponding to genes specifically upregulated in anti-Mi2-positive muscle biopsies.

resultsA set of 135 genes, including

conclusionsBased on these findings, we hypothesise that anti-Mi2 autoantibodies could exert a pathogenic effect by entering damaged myofibres, inhibiting the CHD4/NuRD complex, and subsequently derepressing the unique set of genes defined in this study.

Indexed as

Autoimmune DiseasesDermatomyositisMyositisMyositis, Inclusion BodyAutoantibodiesHumansMi-2 Nucleosome Remodeling and Deacetylase ComplexMuscle, SkeletalAutoantibodiesCHD4 protein, humanMi-2 Nucleosome Remodeling and Deacetylase Complexautoimmunitydermatomyositisinflammationpolymyositis

Identifiers

PMID37130727
PMCPMC11611052
OpenAlexW4367675732

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

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.