Search results for "SMC"
showing 10 items of 21 documents
Genetic variations in the PSMA6 and PSMC6 proteasome genes are associated with multiple sclerosis and response to interferon‑β therapy in Latvians
2021
Several polymorphisms in genes related to the ubiquitin-proteasome system exhibit an association with pathogenesis and prognosis of various human autoimmune diseases. Our previous study reported the association between multiple sclerosis (MS) and the PSMA3-rs2348071 polymorphism in the Latvian population. The current study aimed to evaluate the PSMA6 and PSMC6 genetic variations, their interaction between each other and with the rs2348071, on the susceptibility to MS risk and response to therapy in the Latvian population. PSMA6-rs2277460, -rs1048990 and PSMC6-rs2295826, -rs2295827 were genotyped in the MS case/control study and analysed in terms of genotype-protein correlation network. The …
Type 5 phosphodiesterase (PDE5) and the vascular tree: from embryogenesis to aging and disease
2020
Highlights • Vascular development depends on the timely differentiation of endothelial and smooth muscle cells, that mutually influence their developmental fate. • Endothelial and vascular smooth muscle cell (VSMC) compartments can mutually influence cell and tissue modifications during vascular aging and in vascular disease. • Keeping in mind that PDE5 is mainly expressed in VSMCs, we surveyed the literature on the role of PDE5 in vascular development, aging and disease. • Although most results have been obtained by PDE5 pharmacological inhibition, no data are available, to date, on vascular development, aging or disease following PDE5 genetic ablation.
Resting-state posterior alpha rhythms are abnormal in subjective memory complaint seniors with preclinical Alzheimer's neuropathology and high educat…
2020
International audience; Cognitive reserve is present in Alzheimer's disease (AD) seniors with high education attainment making them clinically resilient to extended brain neuropathology and neurodegeneration. Here, we tested whether subjective memory complaint (SMC) seniors with AD neuropathology and high education attainment of the prospective INSIGHT-preAD cohort (Paris) may present abnormal eyesclosed resting state posterior electroencephalographic rhythms around individual alpha frequency peak, typically altered in AD patients. The SMC participants negative to amyloid PET AD markers (SMCneg) with high (over low-moderate) education level showed higher posterior alpha 2 power density (pos…
Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus
2006
We have recently described two kindreds presenting thoracic aortic aneurysm and/or aortic dissection ( TAAD) and patent ductus arteriosus (PDA)(1,2) and mapped the disease locus to 16p12.2-p13.13 (ref. 3). We now demonstrate that the disease is caused by mutations in the MYH11 gene affecting the C-terminal coiled-coil region of the smooth muscle myosin heavy chain, a specific contractile protein of smooth muscle cells (SMC). All individuals bearing the heterozygous mutations, even if asymptomatic, showed marked aortic stiffness. Examination of pathological aortas showed large areas of medial degeneration with very low SMC content. Abnormal immunological recognition of SM-MHC and the colocal…
Behavioral phenotype and autism spectrum disorders in Cornelia de Lange syndrome
2015
Cornelia de Lange syndrome (CdLS) is a congenital disorder characterized by distinctive facial features, growth retardation, limb abnormalities, intellectual disability, and behavioral problems. Cornelia de Lange syndrome is associated with abnormalities on chromosomes 5, 10 and X. Heterozygous point mutations in three genes (<em>NIPBL</em>, <em>SMC3</em> and <em>SMC1A</em>), are responsible for approximately 50-60% of CdLS cases. CdLS is characterized by autistic features, notably excessive repetitive behaviors and expressive language deficits. The prevalence of autism spectrum disorder (ASD) symptomatology is comparatively high in CdLS. However, the pro…
A line-shape analysis for spin-1 NMR signals
1997
An analytic model of the deuteron absorption function has been developed and is compared to experimental NMR signals of deuterated butanol obtained at the SMC experiment in order to determine the deuteron polarization. The absorption function model includes dipolar broadening and a frequency-dependent treatment of the intensity factors. The high-precision TE signal data available are used to adjust the model for Q-meter distortions and dispersion effects. Once the Q-meter adjustment is made, the enhanced polarizations determined by the asymmetry and TE-calibration methods compare well within the accuracy of each method. In analyzing the NMR signals, the quadrupolar coupling constants could …
Robust control of stochastic systems against bounded disturbances with application to flight control
2014
This paper investigates the problems of state observer design and observer-based integral sliding-mode control (SMC) for a class of Itô stochastic systems subject to simultaneous input and output disturbances. A new type of sliding-mode-based descriptor observer method is developed to approximate the system state and disturbance vectors. An integral-type SMC scheme is proposed based on the state estimation to stabilize the overall system. The main contributions of this approach are as follows: 1) The desired estimations of state and disturbance vectors can be obtained simultaneously, and 2) in the designed sliding-mode observer, the integral term of the Itô stochastic noise is eliminated …
Transient Electrical Behaviour of the TF Superconducting Coils of Divertor Tokamak Test Facility During a Fast Discharge
2022
The paper is focused on the electromagnetic analysis of the Toroidal Field (TF) superconducting coils of the Divertor Tokamak Test facility (DTT) when electrical transients occur in the TF coils system: for example, during the operations of the Fast Discharge Units (FDUs) and considering also, the simultaneous occurrence of a fault condition. During the FDU intervention, a transient voltage excitation lasting few microseconds occurs at the TF coil terminals and it electrically stresses the insulations of TF coils itsef. To investigate the voltage distribution across, inside and between different Double Pancakes (DPs) of each TF coil, a lumped parameters circuital model has been developed an…
Juvenile idiopathic arthritis subtype- and sex-specific associations with genetic variants in the PSMA6/PSMC6/PSMA3 gene cluster.
2014
BackgroundThe ubiquitin proteasome system plays an exceptional biological role in the antigen processing and immune response and it could potentially be involved in pathogenesis of many immunity-related diseases, including juvenile idiopathic arthritis (JIA).MethodsThe PSMB5 (rs11543947), PSMA6 (rs2277460, rs1048990), PSMC6 (rs2295826, rs2295827), and PSMA3 (rs2348071) proteasomal genes were genotyped on JIA subtype- and sex-specific association; plasma proteasome levels was measured in patients having risk and protective four-locus genotypes and eventual functional significance of allele substitutions was evaluated in silico.ResultsLoci rs11543947 and rs1048990 were identified as disease n…
A large Streamer Chamber muon tracking detector in a high-flux fixed-target application.
1999
Arrays of limited streamer tubes of the Iarocci type were deployed in our experiment at CERN as part of a forward muon detector system with provisions for the beam to pass through the center of each panel in the array. A total of 16 4 m x 4 m panels were assembled with inductive readout strips on both sides of each panel. An active feedback system. was deployed to regulate the high voltage to the streamer tubes to insure a constant efficiency for minimum ionizing particles. The arrays were operated in this environment for over five years of data taking. Streamer tube track-reconstruction efficiencies and tube replacement rates are reported. (C) 1999 Elsevier Science B.V. All rights reserved.