A5057707827- Cardiomyopathy and Myosin Studies
- Chromosomal and Genetic Variations
- Cardiovascular Effects of Exercise
- Animal Genetics and Reproduction
- Genetic Mapping and Diversity in Plants and Animals
- Viral Infections and Immunology Research
- Trypanosoma species research and implications
- Cardiovascular Function and Risk Factors
- Congenital heart defects research
- Plant Genetic and Mutation Studies
- Cellular transport and secretion
- Vitamin D Research Studies
- Neurogenetic and Muscular Disorders Research
- Lysosomal Storage Disorders Research
- RNA Research and Splicing
- Glaucoma and retinal disorders
- Glycogen Storage Diseases and Myoclonus
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Genomics and Chromatin Dynamics
- Neuroblastoma Research and Treatments
- Nuclear Structure and Function
- Neuroendocrine Tumor Research Advances
- Chronic Obstructive Pulmonary Disease (COPD) Research
- Genomics and Phylogenetic Studies
- Metabolism, Diabetes, and Cancer
Federal Almazov North-West Medical Research Centre
2018-2025
Ministry of Health of the Russian Federation
2018
St Petersburg University
2003-2007
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)...
Hypertrophic cardiomyopathy (HCM) is one of the most common hereditary diseases, and it associated with fatal complications. The clinical heterogeneity HCM requires risk prediction models to identify patients at a high adverse events. Most cases are caused by mutations in genes encoding sarcomere proteins. However, rare genetic variants limited data about its course prognosis, existing not validated for such patients' cohorts. TRIM63 recently described as cause autosomal-recessive...
<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...
RBM20 (RNA-binding motif protein 20) is a splicing factor targeting multiple cardiac genes, and its mutations cause cardiomyopathies. Originally, were discovered to the development of dilated cardiomyopathy by erroneous gene TTN (titin). Titin giant found in structure sarcomere that functions as molecular spring provides passive stiffness cardiomyocyte. Later, also described association with arrhythmogenic right ventricular left noncompaction cardiomyopathy. Here, we present clinical case...
The polymerase chain reaction (PCR) is widely used in different areas. For example, laboratory diagnostics, PCR to detect bacterial and viral pathogens, the diagnosis of hereditary diseases, identify paternity many other. There are three types — qualitative, semi-quantitative, quantitative. method based on ability DNA double existing strand, thus resulting multiplication number copies region interest. Necessary components or RNA molecules, serving as a template for new molecules; an enzyme...
Anderson-Fabry disease (AFD) results from decreased enzyme activity of lyzosmal and intralyzosomal storage its nonhydrolyzed. Cadiovascular complications, mainly in s form HCM contribute substantially for AFD-patient’s mortality. Here we report three new cases obstructive (HOCM) due to unclassical presentation AFD isolated cardiac involvement. In all the diagnosis was made postoperative by routine genetic morphological testing. Together with previously published this illustrates potential...
Emery-Dreifuss muscular dystrophy (EDMD) is inherited muscle often accompanied by cardiac abnormalities in the form of supraventricular arrhythmias, conduction defects and sinus node dysfunction. Cardiac phenotype typically arises years after skeletal presentation, though, could be severe life-threatening. The defined clinical manifestation with joint contractures, progressive weakness atrophy, as well symptoms are observed third decade life. Still, course sequence signs may variable depends...
Background. The study of the genetic phenotypes CHF and search for markers associated with outcome disease may contribute to a better understanding pathophysiology target therapeutic effects. Objective. To research relationship between clinical, instrumental factors, including polymorphic variants genes HSPB7 (rs1739843), FRMD4B (rs6787362), rs10519210 locus 15q22 MADD (rs10838692, rs2290149) survival patients postinfarction cardiosclerosis CHF. Design methods. included 506 men aged 55.4 ±...
Background. Recent studies have demonstrated possible association between vitamin D deficiency and atherogenic dyslipidemia. However, there are practically no results from Russian investigations in this field. Objective. To assess serum lipids women carrying various receptor (VDR) gene variants. Design methods . The study included 697 aged 35 to 55 years (mean age 43,4 ± 0,3 years). Anthropometric data including height, waist circumference, body mass index were measured. Serum lipid profile,...
Aim. To study the association of genetic variants in titin gene ( TTN ) with development and clinical course left ventricular noncompaction different age groups. Material methods. The article discusses three cases patients who were treated at theAlmazovNationalMedicalResearchCenter. We performed a new-generation sequencing 108 genes associated cardiomyopathies, as well whole exome Sanger sequencing. Results. identified leading to synthesis truncated protein: first two cases, cause was...
The most common type of cardiomyopathy is hypertrophic (HCM), determined by wall thickening the left ventricle. Most often reason this are mutations in genes encoding sarcomere proteins. However, cases it not possible to establish a clear cause development HCMP due absence causal genes. pronounced myocardial hypertrophy stimulated investigation intracellular processes maintaining homeostasis, particular autophagy. Being one main mechanisms protein quality control muscle cells, at impairment...
Anderson–Fabry disease (AFD) results from decreased enzyme activity of lysosomal enzymes and intralysosomal storage nonhydrolyzed forms. Cardiovascular complications, mainly in the form HCM, contribute substantially to AFD patient mortality. Here, we report three new cases obstructive HCM (HOCM) nonclassical presentations isolated cardiac involvement. In all cases, diagnosis was made postoperatively by routine genetic morphological testing. Together with previously published this illustrates...
Introduction. Neuroendocrine tumors (NETs) frequently have a genetic basis, and the range of genes implicated in NETs development continues to expand. Application targeted gene panels (TGP) next-generation sequencing (NGS) is central strategy for elucidating novel variants associated with development. Methods. In this study, we conducted comprehensive molecular-genetic analyses using TGP on cohort 93 patients diagnosed various subtypes, mainly accompanied by endocrine syndromes: insulinoma...
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,...
Double-color fluorescence in situ hybridization was performed on chicken chromosomes using seven unique clones from the human chromosome 3-specific <i>Not</i>I linking libraries. Six of them (NL1-097, NL2-092, NL2-230, NLM-007, NLM-118, and NLM-196) were located same microchromosome NL1-290 another. Two GGA15-specific BAC clones, JE024F14 containing <i>IGVPS</i> gene JE020G17 <i>ALDH1A1</i> gene, cytogenetically mapped to that carried six allowing...
Previously, it was believed that mutations in filamin C are able to cause only skeletal myopathies, cardiac tissues have not been studied. However FLNC recently found lead both joint damage the and musculature isolated tissue damage. Moreover, had known associated with all types of cardiomyopathies (HCM, DCM, RCM, arrhythmogenic) аt present. The article presents our own clinical observations an adult children’s cases phylaminic RCM based on institution. study this problem will allow us...
Aim. To study the prevalence of RBM20 gene polymorphisms and their relationship with structural functional left atrial (LA) characteristics in patients coronary artery disease heart failure reduced ejection fraction (HFrEF). Material methods. The included 138 men aged 55,8±6,6 years prior myocardial infarction ³12 months ago HFrEF (class II-IV failure, ventricular (Simpson’s methods), 25,1±7,2%). control group consisted 384 healthy donors. Genotyping two polymorphic variants (rs942077...