Evidence map›Paper›PMID 17446932›Full record

ArticleThe Journal of clinical investigation2007

Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy.

Antoine Muchir, Paul Pavlidis, Valérie Decostre, Alan J Herron, Takuro Arimura, Gisèle Bonne, Howard J Worman

Open access · bronzeAbstract read
In one paragraph

Article in The Journal of clinical investigation, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 184 papers.

0numbers the graph read from it
0cells of the map it votes in
184citing papers in PubMed
5.2field-weighted citation impact, top 4% 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

184 citing papers in PubMed, 300 citations in OpenAlex.

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  11. Plasma Proteomics Reveals Dysregulated Pathways Across the SpectrumCirculation. Genomic and precision medicine · 2025
    Article
  12. Article
  13. Article
  14. Cardiac phenotypes in LMNA mutations.Current opinion in cardiology · 2025
    Review
  15. Review
  16. Article
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  20. Article

124 more citing papers are in PubMed but not listed here.

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

7 authors at 2 institutions in 2 countries.

Antoine MuchirDepartment of Medicine, College of Physicians and Surgeons, Columbia University, 630 West 168th Street. New York, NY 10032, USA.
Paul Pavlidis
Valérie Decostre
Alan J Herron
Takuro Arimura
Gisèle Bonne
Howard J Worman
Columbia University · USInserm · FR

Funding

Pathogenesis of Emery-Dreifuss Muscular DystrophyR01AR048997 · NIAMS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI WORMAN, HOWARD J · 2003 to 2024
$7.1M
NIAMS NIH HHS AR 048997NIAMS NIH HHS R01 AR048997
6 · The paper itself

Abstract

Mutations in LMNA, which encodes nuclear Lamins A and C cause diseases affecting various organs, including the heart. We have determined the effects of an Lmna H222P mutation on signaling pathways involved in the development of cardiomyopathy in a knockin mouse model of autosomal dominant Emery-Dreifuss muscular dystrophy. Analysis of genome-wide expression profiles in hearts using Affymetrix GeneChips showed statistically significant differences in expression of genes in the MAPK pathways at the incipience of the development of clinical disease. Using real-time PCR, we showed that activation of MAPK pathways preceded clinical signs or detectable molecular markers of cardiomyopathy. In heart tissue and isolated cardiomyocytes, there was activation of MAPK cascades and downstream targets, implicated previously in the pathogenesis of cardiomyopathy. Expression of H222P Lamin A in cultured cells activated MAPKs and downstream target genes. Activation of MAPK signaling by mutant A-type lamins could be a cornerstone in the development of heart disease in autosomal dominant Emery-Dreifuss muscular dystrophy.

Indexed as

Amino Acid SubstitutionAnimalsCardiomyopathiesCells, CulturedChlorocebus aethiopsCOS CellsEnzyme ActivationGene Expression ProfilingLamin Type AMaleMAP Kinase Signaling SystemMiceMice, TransgenicMitogen-Activated Protein KinasesMuscular Dystrophy, Emery-DreifussLamin Type AMitogen-Activated Protein Kinases

Identifiers

PMID17446932
PMCPMC1849984
OpenAlexW2049207174

What OpenQuestion holds

Textmetadata
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.