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April 25, 2020International Journal of Molecular SciencesOpen Access

Genetic Dissection of Hypertrophic Cardiomyopathy with Myocardial RNA-Seq

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Why the study?

Phenotypic heterogeneity in HCM suggests that novel causative genes or genetic modifiers likely exist beyond common sarcomere mutations.

Population

28 HCM patients and 9 healthy controls

Comparison

HCM patients vs healthy controls

Design

Case-control study evaluating myocardial RNA-seq data

Authors

JGJun GaoJCJohn CollyerMWMaochun Wang

Discussion

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Member takes

Overview

No practice change in HCM; leaves open multi-omic contributions to pathogenesis.

Structured PICO

P
Population
28 patients with hypertrophic cardiomyopathy (HCM) and 9 healthy controls
I
Intervention
Myocardial RNA-Seq analysis (pathogenic variant identification, differential expression analysis, gene co-expression, and protein-protein interaction network analyses)
C
Comparator
Healthy controls
O
Outcome
Identification of pathogenic variants and differentially expressed genes (protein-coding, miRNAs, lncRNAs)surrogate

Myocardial RNA-seq reveals that HCM is a complex disease driven by multiple protein-coding gene mutations, non-coding RNA modulation, and gene network perturbations.

Cite This Study

Gao et al. (2020) studied this question.

synapsesocial.com/papers/6a7a8a3635e7b6bcc6892057https://doi.org/10.3390/ijms21093040
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