Search results for "7a"
showing 10 items of 161 documents
Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I.
2006
Usher syndrome type I is the most severe form of Usher syndrome. It is an autosomal recessive disorder characterized by profound congenital sensorineural deafness, retinitis pigmentosa, and vestibular abnormalities. Mutations in the myosin VIIA gene (MYO7A) are responsible for Usher syndrome type 1B (USH1B). This gene is thought to bear greatest responsibility for USH1 and, depending on the study, has been reported to account for between 24% and 59% of USH1 cases. In this report a mutation screening of the MYO7A gene was carried out in a series of 48 unrelated USH1 families using single strand conformation polymorphism analysis (SSCP) and direct sequencing of those fragments showed an abnor…
Stress proteins HSP90 and Gp96 in graft-versus-host disease : pathophysiological, diagnostic and therapeutic implication
2015
Allogeneic hematopoietic cell transplantation is a treatment for certain disorders including hematologic malignancies. Graft-versus-host-disease (GvHD) is a major, life-threatening complication. It is due to the recognition of recipient antigens by donor T cells, which activate and damage tissues. Intestinal barrier alteration plays a critical role in GvHD. Heat shock proteins (HSP)90 include five members, three cytosolic members named HSP90, and one member localized in endoplasmic reticulum (ER) called Gp96 and able to gain extracellular level in case of stress. We show in our thesis that 17AAG, a HSP90 inhibitor, reduces GvHD mortality in a mouse model. This effect is associated with an i…
Large-scale gene-centric analysis identifies novel variants for coronary artery disease.
2011
Coronary artery disease (CAD) has a significant genetic contribution that is incompletely characterized. To complement genome-wide association (GWA) studies, we conducted a large and systematic candidate gene study of CAD susceptibility, including analysis of many uncommon and functional variants. We examined 49,094 genetic variants in ∼2,100 genes of cardiovascular relevance, using a customised gene array in 15,596 CAD cases and 34,992 controls (11,202 cases and 30,733 controls of European descent; 4,394 cases and 4,259 controls of South Asian origin). We attempted to replicate putative novel associations in an additional 17,121 CAD cases and 40,473 controls. Potential mechanisms through w…
PBDEs affect inflammatory and oncosuppressive mechanisms via the EZH2 methyltransferase in airway epithelial cells
2021
Abstract Aims We aimed to investigate the effect of PBDEs (47, 99, 209) on cellular events involved in epigenetic modification, inflammation, and epithelial mesenchymal transition (EMT). Materials and methods We studied: 1) ERK1/2 phosphorylation; 2) Enhancer of Zester Homolog 2 (EZH2); 3) Histone H3 tri-methylated in lysine 27 (H3K27me3); 4) K-RAS; 5) silencing disabled homolog 2-interacting protein gene (DAB2IP), 6) let-7a; 7) Muc5AC/Muc5B, and 8) IL-8 in a 3D in vitro model of epithelium obtained with primary Normal Human Bronchial Epithelial cells (pNHBEs) or A549 cell line, chronically exposed to PBDEs (47, 99, 209). Key findings PBDEs (10 nM, 100 nM and 1 μM) increased ERK1/2 phosphor…
Identification of three novel mutations in the MYO7A gene
1999
Three new mutations in the myosin VIIA gene involved in the pathogenesis of Usher syndrome type Ib are reported. These mutations are K1080X in exon 25, E1170K in exon 28, and Y1719C in exon 37. It is presumed that these mutations are involved in the Usher syndrome Ib phenotype. Hum Mutat 14:181, 1999. Copyright 1999 Wiley-Liss, Inc.
Organophosphate ester tri-o-cresyl phosphate interacts with estrogen receptor α in MCF-7 breast cancer cells promoting cancer growth
2020
Plastic in the ocean degrades to microplastic, thereby enhancing the leaching of incorporated plasticizers due to the increased particle surface. The uptake of microplastic-derived plasticizers by marine animals and the subsequent entry in the food chain raises concerns for adverse health effects in human beings. Frequently used plasticizers as the organophosphate ester tri-o-cresyl phosphate (TOCP) are known to affect the male reproductive system. However, the overall endocrine potential of TOCP and the underlying molecular mechanisms remain elusive as yet. In this study, we investigated the molecular effects of TOCP on estrogen receptor α (ERα)-transfected HEK-ESR1 cells and the human bre…
Differential cystine and dibasic amino acid handling after loss of function of the amino acid transporter b0,+ AT (Slc7a9) in mice
2013
Cystinuria is an autosomal recessive disease caused by mutations in SLC3A1 ( rBAT) and SLC7A9 ( b 0,+ AT). Gene targeting of the catalytic subunit ( Slc7a9) in mice leads to excessive excretion of cystine, lysine, arginine, and ornithine. Here, we studied this non-type I cystinuria mouse model using gene expression analysis, Western blotting, clearance, and brush-border membrane vesicle (BBMV) uptake experiments to further characterize the renal and intestinal consequences of losing Slc7a9 function. The electrogenic and BBMV flux studies in the intestine suggested that arginine and ornithine are transported via other routes apart from system b0,+. No remarkable gene expression changes were…
H3PW12O40 supported on mesoporous MCM-41 and Al-MCM-41 materials: preparation and characterisation
2011
MCM-41 and Al–MCM-41 has been synthesized using cetyl-trimethylammonium bromide (CTAB) surfactant as template and adding the silica precursor to aqueous solutions containing CTAB. The obtained solids were calcined at 600 °C for 4 h. HPW heteropolyacid supported on the mesoporous were prepared using the incipient wetness method. The characterization of materials was performed by X-ray diffraction, Transmission Electron Microscopy, N2 adsorption, 29Si Cross Polarization–Magic Angle Spinning and 27Al MAS NMR. Results showed that the hexagonal structure is obtained in both cases. The Aluminium species are located inside an extra-framework. The impregnation reduces the surface area of the mesopo…
Counting common perpendicular arcs in negative curvature
2013
Let $D^-$ and $D^+$ be properly immersed closed locally convex subsets of a Riemannian manifold with pinched negative sectional curvature. Using mixing properties of the geodesic flow, we give an asymptotic formula as $t\to+\infty$ for the number of common perpendiculars of length at most $t$ from $D^-$ to $D^+$, counted with multiplicities, and we prove the equidistribution in the outer and inner unit normal bundles of $D^-$ and $D^+$ of the tangent vectors at the endpoints of the common perpendiculars. When the manifold is compact with exponential decay of correlations or arithmetic with finite volume, we give an error term for the asymptotic. As an application, we give an asymptotic form…
Interior eigenvalue density of large bi-diagonal matrices subject to random perturbations
2017
We study the spectrum of large a bi-diagonal Toeplitz matrix subject to a Gaussian random perturbation with a small coupling constant. We obtain a precise asymptotic description of the average density of eigenvalues in the interior of the convex hull of the range symbol.