Asymptomatic and oligosymptomatic states of dysferlinopathy.

Dysferlinopathy is a phenotypically heterogeneous, inherited, progressive muscular dystrophy caused by mutations in the gene. Dysferlinopathy is marked by elevated serum creatine kinase (CK) and can in some cases manifest as hyperCKemia in asymptomatic or low-symptom states. Here, we describe the clinical signs and symptoms and laboratory and imaging results with quantitative MRI analysis of eight pediatric patients at asymptomatic and oligosymptomatic states of dysferlinopathy (aged 3-14 years).

[Physical medical rehabilitation of patients with dystrophinopathies: dynamics of the disease's course considering clinical anthropometric indicators].

Unlabelled: Dystrophinopathies - a group of hereditary X-linked neuromuscular diseases characterized by worsening fibrofatty degeneration of skeletal muscles, muscular weakness, low exercise tolerance, as well as orthopedic, cardiovascular and respiratory complications. Study of the effectiveness of physical medical rehabilitation in patients with neuromuscular diseases, evaluation of the influence of external and internal factors on functional capabilities and effectiveness of the conducted rehabilitation are highly relevant.

Objective: To evaluate the effectiveness of physical medical rehabilitation of patients with dystrophinopathies at the outpatient stages of the disease's course and the influence of anthropometric characteristics and functional status of patients' motor capabilities.

[The influence of hydrokinesitherapy on motor and cardiorespiratory functions in hereditary myopathy of childhood].

Objective: To evaluate the impact of regular hydrokinesotherapy sessions and indicators of cardiorespiratory functions on the motor abilities of patients with hereditary myopathy of childhood.

Material And Methods: The study included 63 patients with genetically confirmed hereditary myopathy. Group 1 included 32 patients with Duchenne muscular dystrophy (DMD) who were in the early ambulatory stage.

Safety and efficacy of viltolarsen in ambulatory and nonambulatory males with Duchenne muscular dystrophy.

Duchenne muscular dystrophy (DMD) is an X-linked recessive disease characterized by mutations in the dystrophin gene, causing motor and pulmonary function decline. Viltolarsen is indicated for patients with dystrophin gene mutations amenable to exon 53 skipping. Here, we report safety, motor function, and the first pulmonary function results from the open-label, phase II Galactic53 trial of viltolarsen (NCT04956289).

Efficacy and safety of hydrokinesitherapy in patients with dystrophinopathy.

Duchenne muscular dystrophy (DMD) is one of the most common forms of hereditary muscular dystrophies in childhood and is characterized by steady progression and early disability. It is known that physical therapy can slow down the rate of progression of the disease. According to global recommendations, pool exercises, along with stretching, are preferable for children with DMD, as these types of activities have a balanced effect on skeletal muscles and allow simultaneous breathing exercises.

[The efficacy and safety of kinesytherapy in Becker muscular dystrophy].

Unlabelled: Becker muscular dystrophy (BMD) is inherited X-linked neuromuscular disease characterized by progressive fatigue, atrophy, hypotonia and muscle weakness, that is predominantly located in muscles of pelvic girdle, femurs and lower leg. There are only singular studies at present showing the efficacy of different training programs for patients with muscular dystrophy, and there are no recommendations allowing to detect the optimal motor regimen, that is effective and safe for such patients.

Objective: To evaluate the efficacy of regular dynamic aerobic exercises in children with BMD, who are able to self-sustained movement.

MRI Assessment of Motor Capabilities in Patients with Duchenne Muscular Dystrophy According to the Motor Function Measure Scale.

The research was aimed on the study of motor capabilities on the Motor Function Measure (MFM) scale in ambulant and non-ambulant patients with Duchenne muscular dystrophy, and to conduct a correlation analysis between the results of the MFM scale and Magnetic Resonance Imaging (MRI) data. A total of 46 boys who had genetically confirmed Duchenne muscular dystrophy (age from 2.1 to 16.

A bioinformatic search for correspondence between differentially expressed genes of domestic versus wild animals and orthologous human genes altering reproductive potential.

One of the greatest achievements of genetics in the 20th century is D.K. Belyaev's discovery of destabilizing selection during the domestication of animals and that this selection affects only gene expression regulation (not gene structure) and inf luences systems of neuroendocrine control of ontogenesis in a stressful environment.

Domestication Explains Two-Thirds of Differential-Gene-Expression Variance between Domestic and Wild Animals; The Remaining One-Third Reflects Intraspecific and Interspecific Variation.

Belyaev's concept of destabilizing selection during domestication was a major achievement in the XX century. Its practical value has been realized in commercial colors of the domesticated fox that never occur in the wild and has been confirmed in a wide variety of pet breeds. Many human disease models involving animals allow to test drugs before human testing.

Siberian Development Vector: Based on Cooperation and Interaction.

The article reflects the position held by the Institute of Economics and Industrial Engineering, Siberian Branch of the Russian Academy of Sciences regarding the problems and prospects of the socio-economic, scientific, and technological development of Siberia and the directions of strengthening its positions in the world and Russian space. The main development problems of Siberia and the Siberian Federal District are identified, taking into account modern challenges and threats. It is shown that the recovery of the Siberian economy as a whole and the regions of the Siberian Federal District, in particular, should be based on a significant increase in investment activity at all levels: macroregional, regional, and municipal.

The Phylogeny of Class B Flavoprotein Monooxygenases and the Origin of the YUCCA Protein Family.

YUCCA (YUCCA flavin-dependent monooxygenase) is one of the two enzymes of the main auxin biosynthesis pathway (tryptophan aminotransferase enzyme (TAA)/YUCCA) in land plants. The evolutionary origin of the YUCCA family is currently controversial: YUCCAs are assumed to have emerged via a horizontal gene transfer (HGT) from bacteria to the most recent common ancestor (MRCA) of land plants or to have inherited it from their ancestor, the charophyte algae. To refine YUCCA origin, we performed a phylogenetic analysis of the class B flavoprotein monooxygenases and comparative analysis of the sequences belonging to different families of this protein class.

Evolution of Brain Active Gene Promoters in Human Lineage Towards the Increased Plasticity of Gene Regulation.

Adaptability to a variety of environmental conditions is a prominent feature of Homo sapiens. We hypothesize that this feature can be explained by evolutionary changes in gene promoters active in the brain prefrontal cortex leading to a more flexible gene regulation network. The genotype-dependent range of gene expression can be broader in humans than in other higher primates.

Candidate SNP Markers of Chronopathologies Are Predicted by a Significant Change in the Affinity of TATA-Binding Protein for Human Gene Promoters.

Variations in human genome (e.g., single nucleotide polymorphisms, SNPs) may be associated with hereditary diseases, their complications, comorbidities, and drug responses.

How to Use SNP_TATA_Comparator to Find a Significant Change in Gene Expression Caused by the Regulatory SNP of This Gene's Promoter via a Change in Affinity of the TATA-Binding Protein for This Promoter.

The use of biomedical SNP markers of diseases can improve effectiveness of treatment. Genotyping of patients with subsequent searching for SNPs more frequent than in norm is the only commonly accepted method for identification of SNP markers within the framework of translational research. The bioinformatics applications aimed at millions of unannotated SNPs of the "1000 Genomes" can make this search for SNP markers more focused and less expensive.

Abundances of microRNAs in human cells can be estimated as a function of the abundances of YRHB and RHHK tetranucleotides in these microRNAs as an ill-posed inverse problem solution.

Mature microRNAs (miRNAs) are small endogenous non-coding RNAs 18-25 nt in length. They program the RNA Induced Silencing Complex (RISC) to make it inhibit either messenger RNAs or promoter DNAs. We have found that the mean abundance of miRNAs in Arabidopsis is correlated with the abundance of DRYD tetranucleotides near the 3'-end and the abundance of WRHB tetranucleotides in the center of the miRNA sequence.

[Theories of biological evolution from the viewpoint of the modern systemic biology].

Theories of biological evolution advanced in the last 200 years are reviewed from the viewpoint of advances of modern genetics. The theory of gene networks as a key direction of systemic biology is a link connecting different evolutionary theories.

[Changes in plasmic and platelet hemostasis in patients with chronic renal failure in hemodialysis].

Plasmic and platelet components of hemostasis were examined in 50 patients with terminal chronic renal failure (CRF) aged 23 to 67 years and 30 healthy controls of the same age. A plasmic hemostasis component was studied basing on 11 parameters of coagulogram. A platelet hemostasis component was studied by platelet aggregation: spontaneous and induced by ADP (in concentration 1.

[Evolutionary trends in the prokaryotic community and prokaryotic community-phage systems].

The Evolutionary Constructor software has been used for computer simulation of the life and evolution of communities of unicellular haploid organisms (prokaryotic cells). Opposite trends of the community evolution (simplification and complication of the genome) have been studied. It has been demonstrated that species with reduced genomes tend to replace genetically and metabolically rich species under highly favorable environmental conditions.

[Dynamics of morphometric parameters of peripheral blood platelets as a criterion in assessing thrombogenicity of dialysis membranes].

The study enrolled 45 patients with terminal chronic renal failure (CRF) aged 24-57 years on hemodialysis (a study group) and 30 healthy subjects of matched age (a control group). Morphofunctional condition of circulating platelets in situ was assessed by vital computer morphometry using computer phase-interference microscope, the analysis was made of opticogeometric parameters and morphological features of live platelets reflecting the degree of their activation. CRF patients' proportion of different platelet types in circulating population was 56.

Molecular evolution of cyclin proteins in animals and fungi.

Background: The passage through the cell cycle is controlled by complexes of cyclins, the regulatory units, with cyclin-dependent kinases, the catalytic units. It is also known that cyclins form several families, which differ considerably in primary structure from one eukaryotic organism to another. Despite these lines of evidence, the relationship between the evolution of cyclins and their function is an open issue.

Computer System for Analysis of Molecular Evolution Modes (SAMEM): analysis of molecular evolution modes at deep inner branches of the phylogenetic tree.

SAMEM (System for Analysis of Molecular Evolution Modes), a web-based pipeline system for inferring modes of molecular evolution in genes and proteins (http://pixie.bionet.nsc.

[A precise equilibrium equation for four steps of binding between TBP and TATA-box allows for the prediction of phenotypical expression upon mutation].

Among the main events of transcription initiation of TATA-containing genes in eukayotes are the recognition and binding of the TATA-box by the TATA-binding protein (TBP) to start the preinitiation complex formation on the nucleosomal DNA. Using the equilibrium equation for step-by-step TBP/TATA-binding, we have analyzed 69 experimental datasets on the characteristics of biologicacally important features altered by TATA-box mutations. Among these features, the TBP/TATA-complex parameters, the transcription level, the activity of gene products, yeast colony growth at a dose of growth inhibitor (phenotype), and the heterogenity of the response of a population to unspecific environmental stress have been described.

Comparative modeling of coevolution in communities of unicellular organisms: adaptability and biodiversity.

We propose an original program "Evolutionary constructor" that is capable of computationally efficient modeling of both population-genetic and ecological problems, combining these directions in one model of required detail level. We also present results of comparative modeling of stability, adaptability and biodiversity dynamics in populations of unicellular haploid organisms which form symbiotic ecosystems. The advantages and disadvantages of two evolutionary strategies of biota formation--a few generalists' taxa-based biota formation and biodiversity-based biota formation--are discussed.

SNPs in the HIV-1 TATA box and the AIDS pandemic.

Evolutionary trends have been examined in 146 HIV-1 forms (2662 copies, 2311 isolates) polymorphic for the TATA box using the "DNA sequence-->affinity for TBP" regression (TBP is the TATA binding protein). As a result, a statistically significant excess of low-affinity TATA box HIV-1 variants corresponding to a low level of both basal and TAT-dependent expression and, consequently, slow replication of HIV-1 have been detected. A detailed analysis revealed that the excess of slowly replicating HIV-1 is associated with the subtype E-associated TATA box core sequence "CATAAAA".

[TATA box polymorphisms in genes of commercial and laboratory animals and plants associated with selectively valuable traits].

Most of more than 11 million experimentally established polymorphisms, accumulated in dbSNP, were identified in the intergenic spacers or coding DNA regions. This fact enables interpretation of the former polymorphisms as neutral, while the latter make clear the biological sense of the associated mutant phenotypes, "the defect of certain proteins". The association of polymorphisms in regulatory DNA regions with mutant phenotypes is poorly studied.