Publications by authors named "Maria Danilova"
Cervical artery dissection (CeAD) is the primary cause of ischemic stroke in young adults. Monogenic heritable connective tissue diseases account for fewer than 5% of cases of CeAD. The remaining sporadic cases have known risk factors.
View Article and Find Full Text PDFGanglioside-monosialic acid (GM1) gangliosidosis (ICD-10: E75.1; OMIM: 230500, 230600, 230650) is a rare autosomal recessive hereditary disease, lysosomal storage disorder caused by mutations in the gene that lead to the absence or insufficiency of β-galactosidase. In this study, we report a case of a Russian family with a history of GM1 gangliosidosis.
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- Type 2 diabetes mellitus (T2D) is a chronic condition marked by insulin resistance and dysfunction of β-cells, leading to various health complications.
- A study analyzed plasma samples from 44 T2D patients and 22 healthy individuals, revealing 229 miRNAs with significant expression differences, including increased levels of miR-5588-5p and decreased levels of miR-496 in T2D patients.
- The researchers also found that obesity affects miRNA expression, specifically miR-144-3p and miR-99a-5p, and identified key pathways related to chromatin modification and apoptosis linked to certain miRNAs.
The personalized approach in sports genetics implies considering the allelic variants of genes in polymorphic loci when adjusting the training process of athletes. The personalized approach is used both in sports genetics and in medicine to identify the influence of genotype on the manifestations of human physical qualities that allow to achieve high sports results or to assess the impact of genotype on the development and course of diseases. The impact of genes of the renin-angiotensin and kinin-bradykinin systems in the development of cardiovascular disease in athletes has not been defined.
View Article and Find Full Text PDFThe diving reflex is an oxygen-saving mechanism which is accompanied by apnea, reflex bradycardia development, peripheral vasoconstriction, spleen erythrocyte release, and selective redistribution of blood flow to the organs most vulnerable to lack of oxygen, such as the brain, heart, and lungs. However, this is a poorly studied form of hypoxia, with a knowledge gap on physiological and biochemical adaptation mechanisms. The reflective sympathetic constriction of the resistive vessels is realized via ADRA1A.
View Article and Find Full Text PDFObjective: Dissection of the carotid artery (CaAD) may result in aneurysm formation. The present study was undertaken to evaluate the time of onset of post-dissection extracranial carotid artery aneurysms (ECAA) following CaAD, and to analyse independent risk factors for the development of these aneurysms.
Methods: From four European stroke centres, 360 patients with extracranial CaAD were included.
Article Synopsis
- Metformin is commonly used to treat type 2 diabetes, but individual responses to the drug can vary significantly, potentially due to genetic differences.
- A study analyzed the effects of specific genetic variants on metformin response in 299 patients, identifying the rs12208357 variant as significantly impacting treatment outcomes.
- Machine learning models incorporating genetic and clinical factors, like gender and body measurements, were developed to better predict metformin response, showing potential for personalized diabetes treatment approaches.
Article Synopsis
- Type 2 diabetes (T2D) is influenced by genetics, but traditional methods only partially explain its hereditary factors.
- Advances in genomic sequencing and transcriptomic studies, like RNA-sequencing and single-cell technologies, can help identify new biomarkers for T2D risk and complications.
- The article reviews recent transcriptomic research methods and discoveries related to T2D, while addressing challenges faced in these experiments.
Yeasts cope with a wide range of environmental challenges using different adaptive mechanisms. They can prosper at extreme ambient pH and high temperatures; however, their adaptation mechanisms have not been entirely investigated. Previously, we showed the pivotal role and flexibility of the sugar and lipid composition of upon adaptation to unfavorable conditions.
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- Type 2 diabetes mellitus (T2DM) currently affects over 400 million people globally and is expected to rise to 552 million by 2030, leading to significant health complications.
- Long-term complications such as coronary artery disease and strokes are the main causes of illness and death among those with diabetes.
- Recent advances in genomic research are helping to understand the genetic and epigenetic factors that contribute to T2DM and its associated vascular complications, potentially leading to better predictions and treatments in the future.
Cytokinins (CKs) are known to regulate the biogenesis of chloroplasts under changing environmental conditions and at different stages of plant ontogenesis. However, the underlying mechanisms are still poorly understood. Apparently, the mechanisms can be duplicated in several ways, including the influence of nuclear genes that determine the expression of plastome through the two-component CK regulatory circuit.
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- The study investigates the role of genetic variants in the susceptibility and severity of COVID-19 using a large dataset (gnomAD) and a group of 37 Russian patients.
- It finds slight differences in allele frequencies among European populations, particularly noting that Southern Europeans have fewer missense variants.
- While common genetic variants do not significantly impact COVID-19 severity, some rare variants may influence disease outcomes, suggesting genetics play a role in varying COVID-19 severity.
Article Synopsis
- Type 2 diabetes mellitus (T2D) is a chronic disease characterized by insulin resistance and reduced insulin production, leading to health issues like glucose imbalance and lipid abnormalities.
- The global rise in T2D cases has made it an epidemic, with variations in drug response thought to be influenced by genetic factors.
- This article reviews recent advancements in pharmacogenetics related to T2D, aiming to enhance personalized treatment approaches by understanding genetic influences on medication effectiveness.
Background: Maternally inherited Wolbachia symbionts infect D. melanogaster populations worldwide. Infection rates vary greatly.
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- Heat shock significantly impacts plant growth by altering chloroplast gene expression in Arabidopsis thaliana, leading to an initial decrease in many transcript levels followed by a rebound for some genes.
- During heat stress, certain genes, particularly those associated with photosystems, exhibit complex transcript dynamics, including temporary increases and eventual reductions, highlighting the stress response mechanisms.
- The study suggests that heat stress affects transcript levels via a combination of chloroplast and nuclear gene expression changes, with specific mutants showing impaired responses due to genetics.
Targeted sequencing analysis of gene identifies novel risk variants associated with preeclampsia.
J Matern Fetal Neonatal Med
September 2019
Article Synopsis
- - Preeclampsia (PE) is a critical pregnancy complication linked to high maternal and fetal mortality, highlighting the need for early diagnosis and treatment.
- - Researchers conducted targeted next-generation sequencing to analyze genetic variations in patients with PE compared to a control group, utilizing bioinformatics tools for assessment.
- - They identified several genetic markers associated with PE and one variant potentially protective against it, but further investigation is needed to fully understand the gene's role in the disease's development during pregnancy.
Opposite roles of the Arabidopsis cytokinin receptors AHK2 and AHK3 in the expression of plastid genes and genes for the plastid transcriptional machinery during senescence.
Plant Mol Biol
March 2017
Cytokinin membrane receptors of the Arabidopsis thaliana AHK2 and AHK3 play opposite roles in the expression of plastid genes and genes for the plastid transcriptional machinery during leaf senescence Loss-of-function mutants of Arabidopsis thaliana were used to study the role of cytokinin receptors in the expression of chloroplast genes during leaf senescence. Accumulation of transcripts of several plastid-encoded genes is dependent on the АНК2/АНК3 receptor combination. АНК2 is particularly important at the final stage of plant development and, unlike АНК3, a positive regulator of leaf senescence.
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- Hypertrophic cardiomyopathy is a genetic heart disease that requires early diagnosis, but traditional methods are often ineffective due to the numerous causative genes and mutations involved.
- A custom AmpliSeq panel was developed to analyze key genes associated with cardiomyopathy using next-generation sequencing on both student cohorts and patients, applying statistical software for genetic marker selection.
- The findings revealed multiple gene substitutions linked to cardiomyopathy risk, along with protective genetic variants, demonstrating the potential of this method for improved risk prediction in patients.