A5014689599- Cardiomyopathy and Myosin Studies
- Cardiovascular Effects of Exercise
- Mitochondrial Function and Pathology
- Cardiovascular Function and Risk Factors
- Neurogenetic and Muscular Disorders Research
- Cellular Mechanics and Interactions
- Adipose Tissue and Metabolism
- Pluripotent Stem Cells Research
- Cardiac Fibrosis and Remodeling
- Protein Tyrosine Phosphatases
- Elasticity and Material Modeling
- Viral Infections and Immunology Research
- Trypanosoma species research and implications
- CRISPR and Genetic Engineering
- Cellular transport and secretion
- Virus-based gene therapy research
- Congenital heart defects research
- Hippo pathway signaling and YAP/TAZ
- Autophagy in Disease and Therapy
Federal Almazov North-West Medical Research Centre
2020-2024
First Pavlov State Medical University of St. Petersburg
2020
Hypertrophic cardiomyopathy associated with damaging variants in the ALPK3 gene is a fairly recent discovery, and only small number of patients have been described thus far. Here we present two additional hypertrophic caused by biallelic ALPK3. Genetic investigation was performed using targeted panel consisting known cardiomyopathy-associated genes whole exome sequencing. The showed large difference age onset, both presented extracardiac features that are often seen patients. patient later...
Abstract Background FLNC is one of the few genes associated with all types cardiomyopathies, but it also underlies neuromuscular phenotype. The combination concomitant and cardiac involvement not often observed in filaminopathies impact this on disease prognosis has hitherto been analyzed. Results Here we provide a detailed clinical, genetic, structural prediction analysis distinct -associated phenotypes based twelve pediatric cases. They include early-onset restrictive cardiomyopathy (RCM)...
<b><i>Introduction:</i></b> Left ventricular non-compaction (LVNC) represents a genetically heterogeneous cardiomyopathy which occurs in both children and adults. Its genetic spectrum overlaps with other types of cardiomyopathy. However, LVNC phenotypes different age groups can have distinct aetiologies. The aim the study was to decipher presented childhood. <b><i>Patient Group Methods:</i></b> Twenty patients under 18 years diagnosed were...
Filamin C (FLNC), being one of the major actin-binding proteins, is involved in maintenance key muscle cell functions. Inherited skeletal and cardiac disorders linked to genetic variants FLNC have attracted attention because their high clinical importance possibility genotype-phenotype correlations. To further expand on role cells, we focused detailed alterations properties developed after loss FLNC. Using CRISPR/Cas9 method generated a C2C12 murine myoblast line with stably suppressed Flnc...
Human iPSC cell line FAMRCi009-A was generated from a patient with restrictive cardiomyopathy and congenital myopathy carrying FLNC p.Val2264Met genetic variant. Patient-specific peripheral blood mononuclear cells were reprogrammed using non-integrative Sendai viruses. Generated lines showed normal karyotype, expressed pluripotency markers exhibited trilineage differentiation potential in vitro. The reported could be used for deeper study of filaminopathies.
Aim . To determine the prevalence and profile of rare variants filamin C gene ( FLNC ) among patients with hypertrophic obstructive cardiomyopathy (HCM) referred for septal myectomy, to provide a clinical description HCM occurring these variants. Material methods Ninety-eight adult who underwent myectomy genetic testing by next-generation sequencing using targeted cardiac panel (39-gene in 58 17-gene 40 patients). In (with minor allele frequency <0,01%), data anamnesis, echocardiography,...
Objective. The aim of this study was to investigate gender-specific differences in the clinical profile hypertrophic cardiomyopathy (HCM) and determine impact polymorphic variant rs1739843 HSPB7 gene on outcomes women men with HCM. Design methods . population consisted 171 patients HCM ≥ 18 years old. A novel disease pathway model employed assess course Single nucleotide polymorphism (SNP) genotyped by allele-specific real-time polymerase chain reaction assay. Results. We found no...
Objective. The aim of the work was to evaluate expression MADD gene during development myocardial hypertrophy caused by hemodynamic factors in model aortic coarctation, as well renovascular arterial hypertension (model “2 kidney — 1 clip”). Design and methods. study involved Wistar rats (n = 60) at age 8 weeks. Two experimental models were used: coarctation 30) kidneys clip” 21). Animals divided into groups according duration experiment (1 10 weeks), we also formed a group intact animals 9)....