[A case of Becker muscular dystrophy in a woman with skewed X-chromosome inactivation].

The article presents a rare case of Becker muscular dystrophy symptoms development in a female patient manifested by weakness in the muscles of the lower limbs in youth. The diagnosis was established based on clinical symptoms, molecular-genetic testing, electromyography data, magnetic resonance imaging of the lower limb muscles, and blood creatine phosphokinase activity. DNA analysis using the next-generation sequencing «Large neurological panel» (Genomed laboratory, Moscow) yielded data supporting the presence of a deletion of the X chromosome segment with approximate boundaries 31323344-32809866 and a size of 1.

Fluorescent fatty acid conjugates for live cell imaging of peroxisomes.

Peroxisomes are eukaryotic organelles that are essential for multiple metabolic pathways, including fatty acid oxidation, degradation of amino acids, and biosynthesis of ether lipids. Consequently, peroxisome dysfunction leads to pediatric-onset neurodegenerative conditions, including Peroxisome Biogenesis Disorders (PBD). Due to the dynamic, tissue-specific, and context-dependent nature of their biogenesis and function, live cell imaging of peroxisomes is essential for studying peroxisome regulation, as well as for the diagnosis of PBD-linked abnormalities.

Wide-scale identification of novel/eliminated genes responsible for evolutionary transformations.

Background: It is generally accepted that most evolutionary transformations at the phenotype level are associated either with rearrangements of genomic regulatory elements, which control the activity of gene networks, or with changes in the amino acid contents of proteins. Recently, evidence has accumulated that significant evolutionary transformations could also be associated with the loss/emergence of whole genes. The targeted identification of such genes is a challenging problem for both bioinformatics and evo-devo research.

Insulin Receptor-Related Receptor Regulates the Rate of Early Development in .

The orphan insulin receptor-related receptor (IRR) encoded by gene is the third member of the insulin receptor family, also including the insulin receptor (IR) and the insulin-like growth factor receptor (IGF-1R). IRR is the extracellular alkaline medium sensor. In mice, is expressed only in small populations of cells in specific tissues, which contain extracorporeal liquids of extreme pH.

The demography of COVID-19 deaths database, a gateway to well-documented international data.

National authorities publish COVID-19 death counts, which are extensively re-circulated and compared; but data are generally poorly sourced and documented. Academics and stakeholders need tools to assess data quality and to track data-related discrepancies for comparability over time or across countries. "The Demography of COVID-19 Deaths" database aims at bridging this gap.

Targeted search for scaling genes reveals matrixmetalloproteinase 3 as a scaler of the dorsal-ventral pattern in Xenopus laevis embryos.

How embryos scale patterning according to size is still not fully understood. Through in silico screening and analysis of reaction-diffusion systems that could be responsible for scaling, we predicted the existence of genes whose expression is sensitive to embryo size and which regulate the scaling of embryonic patterning. To find these scalers, we identified genes with strongly altered expression in half-size Xenopus laevis embryos compared with full-size siblings at the gastrula stage.

Additive effect of frequent polymorphism and rare synonymous variant alters splicing in twin patients with Niemann-Pick disease type C.

Niemann-Pick disease type C (NP-C) (OMIM#257220) is a rare lysosomal storage disorder caused by pathogenic variants in either the NPC1 or NPC2 genes. It manifests with a wide spectrum of clinical symptoms and variable age of onset. We studied the impact of the frequent polymorphic variant c.

Bioinformatics Screening of Genes Specific for Well-Regenerating Vertebrates Reveals c-answer, a Regulator of Brain Development and Regeneration.

The molecular basis of higher regenerative capacity of cold-blooded animals comparing to warm-blooded ones is poorly understood. Although this difference in regenerative capacities is commonly thought to be a result of restructuring of the same regulatory gene network, we hypothesized that it may be due to loss of some genes essential for regeneration. We describe here a bioinformatic method that allowed us to identify such genes.

[Migraine in women: clinical and therapeutical aspects].

Migraine is one of the most common neurological disorders, affecting women. Physiological changes in the hormonal status can modulate the functional status of pain and analgesic systems of the brain and, by involving different pathophysiological mechanisms, change the course of migraine. In addition to an analysis of epidemiological data, the review provides current views on the clinical features of the disease in women population at different periods of life, particular attention was focused on menstrual migraine.

Agr2-interacting Prod1-like protein Tfp4 from Xenopus laevis is necessary for early forebrain and eye development as well as for the tadpole appendage regeneration.

The Agr family genes, Ag1, Agr2, and Agr3, encode for the thioredoxin domain containing secreted proteins and are specific only for vertebrates. These proteins are attracting increasing attention due to their involvement in many physiological and pathological processes, including exocrine secretion, cancer, regeneration of the body appendages, and the early brain development. At the same time, the mode by which Agrs regulate intracellular processes are poorly understood.

Ras-dva small GTPases lost during evolution of amniotes regulate regeneration in anamniotes.

In contrast to amniotes (reptiles, birds and mammals), anamniotes (fishes and amphibians) can effectively regenerate body appendages such as fins, limbs and tails. Why such a useful capability was progressively lost in amniotes remains unknown. As we have hypothesized recently, one of the reasons for this could be loss of some genes regulating the regeneration in evolution of amniotes.

Morphogene adsorption as a Turing instability regulator: Theoretical analysis and possible applications in multicellular embryonic systems.

The Turing instability in the reaction-diffusion system is a widely recognized mechanism of the morphogen gradient self-organization during the embryonic development. One of the essential conditions for such self-organization is sharp difference in the diffusion rates of the reacting substances (morphogens). In classical models this condition is satisfied only for significantly different values of diffusion coefficients which cannot hold for morphogens of similar molecular size.

[The application of sinusoidal modulated currents for the treatment of biliary sludge in an outpatient clinic].

The objective of the present study was to evaluate therapeutic effects of sinusoidal modulated currents (SMC) applied for the treatment of patients at different stages of biliary sludge (BS) under conditions of an outpatient clinic. Biliary sludge is currently considered to be a precursor of cholelithiasis known to be a leading pathology of the digestive system responsible for the high surgery rate. It was shown that the introduction of the technique based on sinusoidal modulated currents into the clinical practice of an outpatient clinic increases the efficacy of management of the patients presenting with stage 1 and 2 biliary sludge and showing neither well-apparent clinical symptoms nor signs of metabolic disorders that imply the necessity of more thorough examination and combined application of sinusoidal modulated currents and mediacmental therapy.