Mark A. Mercola

Damaging RBM20 E-rich domain variants are not rescued by gene replacement

The paper investigates E-rich domain variants of RBM20, showing they reduce protein abundance and cause splicing defects, but are not rescued by RBM20 overexpression.

Scaled multidimensional assays of variant effect identify sequence-function relationships in hypertrophic cardiomyopathy

The paper develops a multidimensional assay to assess variant effects in MYBPC3, reclassifying variants and uncovering disease mechanisms in hypertrophic cardiomyopathy.

Generation of three induced pluripotent stem cell lines from an immune checkpoint inhibitor-induced myocarditis patient and controls

The paper generates three iPSC lines from an ICIM patient and controls to study disease mechanisms and develop therapies.

Multiparametric Assessment of TNNI3 Variant Phenotypes in Human iPSC-Cardiomyocytes Correlates with Disease Severity in Patients

This study assesses TNNI3 variant effects on hiPSC-CM physiology and links these findings to disease severity in cardiomyopathy patients.

The Adipomyokine Follistatin-like-1 Restores Cardiovascular Function in a Swine Model of Diabetic Myocardial Infarction

This study shows that subcutaneous administration of ngFSTL1 improves cardiac and vascular function in a swine model of diabetic myocardial infarction.

Uncertainty-Aware Traction Force Microscopy

This paper introduces an uncertainty-aware Traction Force Microscopy technique that adapts regularization based on image quality and quantifies uncertainty in traction stress recovery.

Personalized transcriptome signatures in a cardiomyopathy stem cell biobank

The paper establishes a cardiomyopathy stem cell biobank and identifies transcriptomic subtypes and drug response in iPSC-derived cardiomyocytes.

Genetic analysis and multimodal imaging identify novel mtDNA 12148T>C leading to multisystem dysfunction with tissue-specific heteroplasmy

The paper identifies a novel mtDNA variant m.12148T>C associated with multisystem dysfunction and highlights the importance of tissue-specific heteroplasmy analysis.

SARS-CoV-2 susceptibility and ACE2 gene variations within diverse ethnic backgrounds

The paper analyzes ACE2 gene variants in a diverse UK cohort to assess their association with SARS-CoV-2 infection risk and severity, identifying variants that affect ACE2 expression and viral receptor affinity.

Transcriptional regulation profiling reveals disrupted lipid metabolism in failing hearts with a pathogenic phospholamban mutation

The paper investigates epigenetic and transcriptional changes in PLN R14del cardiomyopathy, identifying disrupted lipid metabolism and altered gene regulation.

Modulation of RNA-dependent interactions in stress granules prevents persistent TDP-43 accumulation in ALS/FTD

The paper introduces VariantKey, a reversible numerical encoding for genetic variants, and presents compounds that inhibit stress granule formation and TDP-43 accumulation in ALS/FTD models.