17 results match your criteria: "Skolkovo Innovation Centre[Affiliation]"

Article Synopsis
  • - The study focused on dysferlinopathy in an isolated Avar population in Dagestan, examining the prevalence of a specific pathological DYSF gene variant linked to muscular dystrophy, using genetic screenings of 746 individuals.
  • - Findings revealed a high allele frequency of 14%, with a notable 3.8% of individuals homozygous for the variant, leading to two phenotypes: limb-girdle muscular dystrophy and Miyoshi muscular dystrophy.
  • - The research concluded that inbreeding contributed to the population's significant burden of dysferlinopathy, indicated by a low number of heterozygotes and a specific fixation index value.
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Introduction: Chronic cough heavily affects patients' quality of life, and there are no effective licensed therapies available. Cough is a complication of severe acute respiratory syndrome-related coronavirus 2 (SARS-CoV-2) infection, asthma, and other diseases. Patients with various diseases have a different profile of tussive responses to diverse cough triggers, thereby suggesting sundry mechanisms of neuronal dysfunctions.

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This study shows the research on the depolymerisation of insect and crab chitosans using novel enzymes. Enzyme preparations containing recombinant chitinase Chi 418 from , chitinase Chi 403, and chitosanase Chi 402 from , all belonging to the family GH18 of glycosyl hydrolases, were used to depolymerise a biopolymer, resulting in a range of chitosans with average molecular weights (M) of 6-21 kDa. The depolymerised chitosans obtained from crustaceans and insects were studied, and their antibacterial and antifungal properties were evaluated.

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We report the genetic analysis of 18 population samples of animals, which were taken from cattle () breeds of European and Asian origins. The main strength of our study is the use of rare and ancient native cattle breeds: the Altai, Ukrainian Grey, Tagil, and Buryat ones. The cattle samples studied have different production purposes, belong to various eco-geographic regions, and consequently have distinct farming conditions.

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There is considerable clinical and fundamental value in measuring the clonal heterogeneity of T and B cell expansions in tumors and tumor-associated lymphoid structures-along with the associated heterogeneity of the tumor neoantigen landscape-but such analyses remain challenging to perform. Here, we propose a straightforward approach to analyze the heterogeneity of immune repertoires between different tissue sections in a quantitative and controlled way, based on a beta-binomial noise model trained on control replicates obtained at the level of single-cell suspensions. This approach allows to identify local clonal expansions with high accuracy.

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Surface plasmon polaritons on (silver) nanowires are promising components for future photonic technologies. Here, we study near-field patterns on silver nanowires with a scattering-type scanning near-field optical microscope that enables the direct mapping of surface waves. We analyze the spatial pattern of the plasmon signatures for different excitation geometries and polarization and observe a plasmon wave pattern that is canted relative to the nanowire axis, which we show is due to a superposition of two different plasmon modes, as supported by electromagnetic simulations including the influence of the substrate.

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The developmental and epileptic encephalopathies (DEE) are a group of rare, severe neurodevelopmental disorders, where even the most thorough sequencing studies leave 60-65% of patients without a molecular diagnosis. Here, we explore the incompleteness of transcript models used for exome and genome analysis as one potential explanation for a lack of current diagnoses. Therefore, we have updated the GENCODE gene annotation for 191 epilepsy-associated genes, using human brain-derived transcriptomic libraries and other data to build 3,550 putative transcript models.

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In the present work, a pilot creation of four cybrid cultures with high heteroplasmy level was performed using mitochondrial genome mutations m.12315G>A and m.1555G>A.

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Objectives: Alzheimer's disease (AD) is a neurodegenerative disorder with no cure. Limited treatment options available today do not offer solutions to slow or stop any of the suspected causes. The current medications used for the symptomatic treatment of AD include memantine and acetylcholine esterase inhibitors.

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Memory CD4 T cells are generated in the human fetal intestine.

Nat Immunol

March 2019

Department of Immunohematology and Blood Transfusion, Leiden University Medical Center, Leiden, the Netherlands.

The fetus is thought to be protected from exposure to foreign antigens, yet CD45RO T cells reside in the fetal intestine. Here we combined functional assays with mass cytometry, single-cell RNA sequencing and high-throughput T cell antigen receptor (TCR) sequencing to characterize the CD4 T cell compartment in the human fetal intestine. We identified 22 CD4 T cell clusters, including naive-like, regulatory-like and memory-like subpopulations, which were confirmed and further characterized at the transcriptional level.

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Influence of autophagy on the genesis and development of atherosclerosis and its risk factors.

Angiol Sosud Khir

March 2018

Laboratory of Angiopathology, Scientific Research Institute of General Pathology and Pathophysiology, Moscow, Russia; Skolkovo Innovation Centre Scientific, Research Institute for Atherosclerosis, Skolkovo, Moscow Region, Russia.

Autophagy is a highly conservative process of degeneration during which intracellular components including soluble macromolecules (e. g., nucleic acids, proteins, carbohydrates and lipids) and dysfunctional organelles (e.

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For understanding the rules and laws of adaptive immunity, high-throughput profiling of T-cell receptor (TCR) repertoires becomes a powerful tool. The structure of TCR repertoires is instructive even before the antigen specificity of each particular receptor becomes available. It embodies information about the thymic and peripheral selection of T cells; the readiness of an adaptive immunity to withstand new challenges; the character, magnitude and memory of immune responses; and the aetiological and functional proximity of T-cell subsets.

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The study included apparently healthy people, conventionally healthy people predisposed to atherosclerosis, and as well as people with preclinical atherosclerosis (50 subjects in each group). Monocytes were isolated from whole blood and transferred to culture followed by studying pro- and anti-inflammatory activation of monocytes in response to stimulation by interferon-gamma and interleukin-4, respectively. As a marker of pro-inflammatory activation was the level of secretion of tumour necrosis factor-α (TNF-α) in the culture medium measured by means of immunoenzymatic assay.

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Stability of quantum statistical ensembles with respect to local measurements.

Phys Rev E

December 2016

Skolkovo Institute of Science and Technology, Skolkovo Innovation Centre, Nobel Street 3, Moscow 143026, Russia and Institute for Theoretical Physics, Philosophenweg 19, 69120 Heidelberg, Germany.

We introduce a stability criterion for quantum statistical ensembles describing macroscopic systems. An ensemble is called "stable" when a small number of local measurements cannot significantly modify the probability distribution of the total energy of the system. We apply this criterion to lattices of spins-1/2, thereby showing that the canonical ensemble is nearly stable, whereas statistical ensembles with much broader energy distributions are not stable.

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In silico Pathway Activation Network Decomposition Analysis (iPANDA) as a method for biomarker development.

Nat Commun

November 2016

Pharmaceutical Artificial Intelligence Department, Insilico Medicine, Inc., Emerging Technology Centers, Johns Hopkins University at Eastern, B301, 1101 33rd Street, Baltimore, Maryland 21218, USA.

Signalling pathway activation analysis is a powerful approach for extracting biologically relevant features from large-scale transcriptomic and proteomic data. However, modern pathway-based methods often fail to provide stable pathway signatures of a specific phenotype or reliable disease biomarkers. In the present study, we introduce the in silico Pathway Activation Network Decomposition Analysis (iPANDA) as a scalable robust method for biomarker identification using gene expression data.

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The steady progress of targeted therapies, promising advances for lung cancer.

Ecancermedicalscience

June 2016

Division of Molecular Genetics, The Netherlands Cancer Institute, 1066 CX Amsterdam, The Netherlands; Skolkovo Institute of Science and Technology, Skolkovo Innovation Centre, Building 5, Moscow 143026, Russia.

Lung cancer remains one of the most complex and challenging cancers, being responsible for almost a third of all cancer deaths. This grim picture seems however to be changing, for at least a subset of lung cancers. The number of patients who can benefit from targeted therapies is steadily increasing thanks to the progress made in identifying actionable driver lesions in lung tumours.

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Mosaicism of mitochondrial genetic variation in atherosclerotic lesions of the human aorta.

Biomed Res Int

December 2015

Laboratory of Angiopathology, Institute of General Pathology and Pathophysiology, 8 Baltiyskaya Street, Moscow 125315, Russia ; Institute for Atherosclerosis Research, Skolkovo Innovation Centre, Moscow 121552, Russia.

Objective: The aim of the present study was an analysis of heteroplasmy level in mitochondrial mutations 652delG, A1555G, C3256T, T3336C, 652insG, C5178A, G12315A, G13513A, G14459A, G14846A, and G15059A in normal and affected by atherosclerosis segments of morphologically mapped aortic walls.

Methods: We investigated the 265 normal and atherosclerotic tissue sections of 5 human aortas. Intima of every aorta was divided according to morphological characteristics into segments with different types of atherosclerotic lesions: fibrous plaque, lipofibrous plaque, primary atherosclerotic lesion (fatty streak and fatty infiltration), and normal intima from human aorta.

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