Familial hypercholesterolemia (FH) is characterized by a raised concentration of LDL in plasma that results in a significantly increased risk of premature atherosclerosis. In FH, impaired removal of LDL from the circulation results from inherited mutations in the LDL receptor gene or, more rarely, in the gene for apo B, the ligand for the LDL receptor. We have identified two unrelated clinicall...

The reaper and head involution defective genes can induce apoptotic death in several Drosophila cell types, including portions of the embryo and eye. By a combination of FLP recombinase and the yeast Gal4/UAS transcription activation system, we expressed both cell death genes in discrete clones in the adult ovarian follicle cell layer. The expression of either reaper or head involution defectiv...

Class I MHC H chains assemble with beta2-microglobulin (beta2m) and are loaded with peptide Ags through multiple folding steps. When free of beta2m, human H chains react with Abs to linear epitopes, such as L31. Immunodepletion and coimmunoprecipitation experiments, performed in this study, detected a preferential association of L31-reactive, beta2m-free H chains with calnexin in beta2m-defecti...

This paper is concerned with joint determination of the optimal lot size and optimal number of shipments for an economic production quantity (EPQ) model with the reworking of random defective items produced. The classic EPQ model assumes a continuous issuing policy for satisfying product demand and perfect quality production for all items produced. However, in a real life vendor-buyer integrate...

Ty3, a retroviruslike element of Saccharomyces cerevisiae, transposes into positions immediately upstream of RNA polymerase III-transcribed genes. The Ty3 integrase (IN) protein is required for integration of the replicated, extrachromosomal Ty3 DNA. In retroviral IN, a conserved core region is sufficient for strand transfer activity. In this study, charged-to-alanine scanning mutagenesis was u...

While originally characterized as a collection of related syndromes, cystic fibrosis (CF) is now recognized as a single disease whose diverse symptoms stem from the wide tissue distribution of the gene product that is defective in CF, the ion channel and regulator, cystic fibrosis transmembrane conductance regulator (CFTR). Defective CFTR protein impacts the function of the pancreas and alters ...

PURPOSE The intravaginal slingplasty (IVS) is a tension-free vaginal tape variant that uses a multi-filament polypropylene tape to support the mid urethra for the treatment of female stress urinary incontinence. Numerous cases of defective vaginal wound healing have been described in the international urogynecological literature. We describe our experience of vaginal mesh extrusion using the IV...

In the manufacturing sector and engineering, the system need for image processing with high performance capability is further increased every day. Image processing functions are used in many areas of medical and industry for product inspection, classification and also estimation of weather and agricultural productivity. Thus saving time and money in the development process and the introduction ...

This work proposes to increase the acceptability of sensory quality attributes sugarcane honey by simulating and decreasing uncertainty operational parameters. To this effect, it relies on development a case study through strategy that contemplates analysis initial data performs calculations use mathematical models, determination Sigma level, GUM methodology (Guide expression in measurement). I...