ArticleOpen heart
Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature.
Article in Open heart. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 24 citations in OpenAlex.
- Characterization and natural history of patients with LMNA-related dilated cardiomyopathy in the phase 3 REALM-DCM trial.ESC heart failure · 2024Trial
- A highly penetrantbioRxiv : the preprint server for biology · 2026Article
- Severe familial dilated cardiomyopathy in a young adult due to a rare LMNA mutation: a case report.European heart journal. Case reports · 2024Article
- Missense and Non-Missense Lamin A/C Gene Mutations Are Similarly Associated with Major Arrhythmic Cardiac Events: A 20-Year Single-Centre Experience.Biomedicines · 2024Article
- Global Proteomic Analysis Reveals Alterations in Differentially Expressed Proteins between Cardiopathic Lamin A/C Mutations.Journal of proteome research · 2024Article
- Aberrant chromatin organization at the nexus of laminopathy disease pathways.Nucleus (Austin, Tex.) · 2022Review
- Use of machine learning to classify high-risk variants of uncertain significance in lamin A/C cardiac disease.Heart rhythm · 2022Article
- Article
- Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.NPJ genomic medicine · 2021Article
- Whole exome sequencing identified a pathogenic nonsense mutation in LMNA in a family with a progressive cardiac conduction defect: A case report.Molecular medicine reports · 2020Article
- Can Circulating Cardiac Biomarkers Be Helpful in the Assessment ofJournal of clinical medicine · 2020Article
- Case reports of a c.475G>T, p.E159* lamin A/C mutation with a family history of conduction disorder, dilated cardiomyopathy and sudden cardiac death.BMC cardiovascular disorders · 2019Article
- Lamin A/C Cardiomyopathy: Implications for Treatment.Current cardiology reports · 2019Review
- Importance of Genetic Testing in Dilated Cardiomyopathy: Applications and Challenges in Clinical Practice.Arquivos brasileiros de cardiologia · 2019Review
- Updates on the Genetic Paradigm in Heart Failure.Current treatment options in cardiovascular medicine · 2019Review
- Cardiac diseases as a predictor warning of hereditary muscle diseases. The case of laminopathies.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2019Article
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
Abstract
Objective: Two Methods: We used a semantic workflow platform and manual electronic literature search to identify published Results: More adverse phenotype was associated with mutation location upstream of the NLS (p=0.014, OR 2.38, 95% CI 1.19 to 4.80) but not with non-missense mutations (p=0.337, OR 1.36, 95% CI 0.72 to 2.57), although an association with non-missense mutations was identified in a subcluster with malignant ventricular arrhythmia (p=0.005, OR 2.64, 95% CI 0.76 to 9.21). HCA limited to the 65 mutations described on ClinVar as pathogenic/likely pathogenic showed similar findings (upstream of NLS, p=0.030, OR 4.78, 95% CI 1.28 to 17.83; non-missense, p=0.121, OR 2.64, 95% CI 0.76 to 9.21) as did analysis limited to pathogenic/likely pathogenic variants according to the American College of Medical Genetics and Genomics standards. Conclusion: Cardiac patients with an
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