National Medical Research Center of Cardiology

Implementation of an Internalized Hemolysis Assessment Approach in Targeted Bottom-Up Proteomics for the Purpose of Blood Plasma Sample Quality Control

Abstract Mishandling of samples during blood plasma preparation may lead to biases in proteomic analysis and misinterpretation of data. An earlier study by Geyer et al. (2019) described proteins that may indicate poor plasma sample quality. Following this work, we have imitated a...

Transcriptional and histopathological profiling of skeletal muscle in Bla/J mice at the stage of dysferlinopathy manifestation

Dysferlinopathy is a rare muscular dystrophy characterized by chronic muscle damage and ineffective regeneration. While late-stage morphological changes, such as fibroadipose replacement, are well described, the early molecular mechanisms driving muscle fiber loss and regenerativ...

Beyond Weight Loss: Thromboinflammation as a Candidate Mechanism for the Cardiovascular Benefit of GLP-1 Receptor Agonists

Glucagon-like peptide-1 receptor agonists (GLP-1RAs) have emerged as an important class of medications for managing type 2 diabetes and obesity, with cardiovascular outcome trials demonstrating reductions in major adverse cardiovascular events (MACEs) for several agents. The SELE...

Expanding the Genomic Spectrum of NHLRC2-Associated FINCA Disease: Integrated Bioinformatic Characterization of a Novel Deep Intronic Variant Predicted to Activate a Pseudoexon

NHLRC2-associated FINCA disease is an ultra-rare autosomal recessive multisystem disorder caused by biallelic pathogenic variants in NHLRC2. Its mutational spectrum and genotype–phenotype correlations remain incompletely defined, and the contribution of non-coding variants is poo...