Genetic screens

Hypertrophic cardiomyopathy (HCM) is a common genetic cardiovascular disease and a major cause of sudden death. It is also involved in increasing morbidity and mortality of various cardiovascular diseases. Genetic factors have been found to be important in determining the phenotypic manifestation of cardiac hypertrophy. However, only 50–60% of HCM patients have been identified as having pathogenic variants in known genes, suggesting that more studies are needed to find more disease genes.

15p xuanphongdacy06 18-09-2024 4 1   Download

Genetic screens have been the lifeblood of forward genetics. They have enabled widespread discoveries of gene function, leading to meaningful advances in medicine, biotechnology, and agriculture. Nevertheless, technologies for performing these screens have been limited by scale, specificity, and targeting range of tools for investigating and perturbing the genome.

4p vimichaelfaraday 25-03-2022 14 1   Download

Microsatellite instability (MSI) is a key marker for predicting the response of immune checkpoint inhibitors (ICIs) and for screening Lynch syndrome (LS). Aim: This study aimed to see the characteristics of cancers with high level of MSI (MSI-H) in genetic medicine and precision medicine.

12p vielonmusk 21-01-2022 10 0   Download

Sàng lọc di truyền trước chuyển phôi (Preimplantation Genetics Screening – PGS) là phương pháp sử dụng các kỹ thuật sàng lọc phân tích bản chất di truyền bên trong của phôi để chọn được những phôi bình thường về di truyền giúp tăng tỉ lệ chuyển phôi thành công trong thụ tinh trong ống nghiệm (In Vitro Fertilization - IVF). Bài viết trình bày đánh giá tình trạng bất thường NST của phôi ngày năm bằng kỹ thuật giải trình tự thế hệ mới (NGS).

4p vithimphu2711 03-08-2020 60 3   Download

Assessment of genotype diversity was studied using released and in pipeline genotypes of wheat, of these 22 were released and 14 were in pipeline . Genetic diversity among 36 wheat genotypes was studied using Random amplified polymorphic DNA (RAPD) analysis. 21 RAPD primers (RPI primers) were used for screening 36 wheat genotypes from which 2,868 fragments were amplified. It was observed that 63.3% bands were polymorphic and 36.4% were monomorphic. The percent of polymorphic bands in banding pattern was calculated and it was highest in RPI-22 (81.3%) while lowest was recorded in RPI-2 (33.

8p chauchaungayxua6 26-06-2020 14 3   Download

Asheat shockproteins (Hsps) are involved inprotecting cells and also in the pathophysiology of diseases such as inflam-mation, cancer and neurodegenerative disorders, modula-tors ofHsp expression inmammalian cells would seemto be useful for the treatment of various diseases. In this study, we isolated mammalian cell lines for screening of Hsp modu-lators; mouse C3H10T1/2 cells stably transfected with a plasmid containing the mouse Hsp105 or human Hsp70B promoter upstream of a luciferase or b-galactosidase reporter gene, respectively....

8p tumor12 20-04-2013 30 5   Download

The (ba)8-barrel is the most common enzyme fold and it is capable of cata-lyzing an enormous diversity of reactions. It follows that this scaffold should be an ideal starting point for engineering novel enzymes by directed evolution. However, experiments to date have utilized in vivo screens or selections and the compatibility of (ba)8-barrels with in vitro selection methods remains largely untested.

14p fptmusic 11-04-2013 41 3   Download

We determined differentially expressed genes in HT29 human colon cancer cells, both after short treatment with methotrexate (MTX) and after the resistance to MTX had been established. Screening was performed using Atlas Human Cancer 1.2K cDNA arrays. The analysis was carried out using Atlasimage 2.01 andgenespring6.1 software.

15p awards 05-04-2013 31 1   Download

To facilitate the process of proteindesign and learn the basic rules that control the structure and stability of proteins, combinatorial methods have been developed to select or screen proteins with desired properties from libraries of mutants. One such method uses phage-display and proteo-lysis to select stably folded proteins. This method does not rely on specific properties of proteins for selection. There-fore, in principle it can be applied to any protein.

6p dell39 03-04-2013 31 4   Download

Aquaporins andaquaglyceroporinsmediate the transport of waterand solutesacrossbiologicalmembranes.Saccharo-myces cerevisiaeFps1 is an aquaglyceroporin that mediates controlled glycerol export during osmoregulation. The transport function of Fps1 is rapidly regulated by osmotic changes in an apparently unique way and distinct regions within the longN-andC-terminal extensions are needed for this regulation.

9p dell39 03-04-2013 64 3   Download

Genetic screens inDrosophilahave revealed that the serine⁄threonine kinase Hippo (Hpo) and the scaffold protein Salvador participate in a pathway that controls cell proliferation and apoptosis. Hpo most closely resembles the pro-apoptotic mammalian sterile20 kinases 1 and 2 (Mst1 and 2), and Salvador (Sav) has a human orthologue hSav (also called hWW45).

13p inspiron33 25-03-2013 31 2   Download

Exposure of the yeastSaccharomyces cerevisiaeto weak organic acids such as the food preservatives sorbate, benzoate and propionate leads to the pronounced induction of the plasma membrane ATP-binding cassette (ABC) transporter, Pdr12p. This protein mediates efflux of weak acid ani-ons, which is essential for stress adaptation.

14p galaxyss3 19-03-2013 52 3   Download

We performed a functional genetic screen to find novel antiapoptotic genes that are under the regulation of the oncoprotein c-Src. Several clones were identified, including subunit S5a of the 26Sproteasome. We found that S5a rescued Saos-2 cells from apoptosis induced by Src inhibitor 4-amino-5-(4-methylphenyl)-7-(t-butyl)pyrazolo[3,4-d]pyrimidine (PP1).

17p galaxyss3 19-03-2013 29 2   Download

Differential screening by PCR-select subtraction was carried out for cDNAs from leaves of red and green perilla, two chemovarietal forms of Perilla frutescensregarding anthocyanin accumulation. One hundred and twenty cDNA fragments were selected as the clones preferentially expressed in anthocyanin-accumulating red perilla over the nonaccumulating green perilla.

9p galaxyss3 07-03-2013 55 6   Download

Enzyme enhancement therapy is an emerging therapeutic approach that has the potential to treat many genetic diseases. Candidate diseases are those associated with a mutant protein that has difficulty folding and⁄or assembling into active oligomers in the endoplasmic reticulum.

11p media19 04-03-2013 38 2   Download

In recent years, our understanding of how gene regulatory networks con-trol cell physiology has improved dramatically. Studies have demonstrated that transcription is regulated not only by protein factors, but also by small RNA molecules, microRNAs (miRNAs). The first miRNA was discovered in 1993 as a result of a genetic screen for mutations in Caenorhabditis elegans.

13p viettel02 20-02-2013 36 2   Download

For elucidating protein–protein interactions, many methodologies have been developed during the past two decades. For investigation of interac-tions inside cells under physiological conditions, yeast is an attractive organism with which to quickly screen for hopeful candidates using versa-tile genetic technologies, and various types of approaches are now avail-able.

14p mobifone23 21-01-2013 39 6   Download

The aim of this study is to discover and characterize novel energy homeo-stasis-related molecules. We screened stock mouse embryonic stem cells established using the exchangeable gene trap method, and examined the effects of deficiency of the target gene on diet and genetic-induced obesity.

10p mobifone23 18-01-2013 27 3   Download

Weak and transient protein–protein interactions are associated with biolog-ical processes, but many are still undefined because of the difficulties in their identification. Here, we describe a redesigned method to screen transient protein–protein interactions by using a novel signal amplification circuit, which is incorporated into yeast to artificially magnify the signal responding to the interactions.

9p cosis54 04-01-2013 52 3   Download

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: On the genetic involvement of apoptosis-related genes in Crohn's disease as revealed by an extended association screen using 245 markers: no evidence for new predisposing factors

8p panasonic01 13-12-2011 54 5   Download