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Investigation of unknown causes of uveal melanoma uncovers seven recurrent genetic mutations

Nanda et al. | Aug 25, 2022

Investigation of unknown causes of uveal melanoma uncovers seven recurrent genetic mutations

Uveal melanoma (UM) is a rare subtype of melanoma but the most frequent primary cancer of the eye in adults. The goal of this study was to research the genetic causes of UM through a comprehensive frequency analysis of base-pair mismatches in patient genomes. Results showed a total of 130 genetic mutations, including seven recurrent mutations, with most mutations occurring in chromosomes 3 and X. Recurrent mutations varied from 8.7% to 17.39% occurrence in the UM patient sample, with all mutations identified as missense. These findings suggest that UM is a recessive heterogeneous disease with selective homozygous mutations. Notably, this study has potential wider significance because the seven genes targeted by recurrent mutations are also involved in other cancers.

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The Protective Effects of Panax notoginseng Saponin on the Blood-Brain Barrier via the Nrf2/ARE Pathway in bEnd3 Cells

Yang et al. | Apr 06, 2016

The Protective Effects of <i>Panax notoginseng</i> Saponin on the Blood-Brain Barrier via the Nrf2/ARE Pathway in bEnd3 Cells

Disruption of the blood-brain barrier (BBB) is related to many neurological disorders, and can be caused by oxidative stress to cerebral microvascular endothelial cells (CMECs) composing the BBB. The authors of the paper investigated the protective effects of the total saponins in the leaves of Panax notoginseng (LPNS) on oxidative-stress-induced damage in a mouse cerebral microvascular endothelial cell line.

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Bacteriophage TLS sensitizes Escherichia coli to antibiotics

Emann et al. | Mar 04, 2026

Bacteriophage TLS sensitizes <i>Escherichia coli</i> to antibiotics

Antibiotic resistance is a growing global health threat, and one strategy to combat it is using bacteriophages to enhance the effectiveness of existing antibiotics. This study tested whether targeting the TolC protein in E. coli with the TLS bacteriophage would increase bacterial sensitivity to antibiotics.

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Development of anti-cancer bionanoparticles isolated from corn for bone cancer treatment

Richardson et al. | Apr 20, 2023

Development of anti-cancer bionanoparticles isolated from corn for bone cancer treatment

This study hypothesizes that nanoparticles derived from corn (cNPs)may have anti-proliferative effects on bone cancer and metastasized bone cancer. It finds that human osteosarcoma and human lung carcinoma metastasized to bone marrow cell viability decreased to 0% when treated with cNPs. Overall, these results indicate that cNPs have anti-proliferative effects on bone cancer cells and cancer cells that metastasize to the bone.

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The Effect of the Human MeCP2 gene on Drosophila melanogaster behavior and p53 inhibition as a model for Rett Syndrome

Ganga et al. | Sep 07, 2020

The Effect of the Human <i>MeCP2</i> gene on <i>Drosophila melanogaster</i> behavior and p53 inhibition as a model for Rett Syndrome

In this study, the authors observe if the symptoms of Rett Syndrome, a neurodegenerative disease in humans, are reflected in Drosophila melanogaster. This was achieved by differentiating the behavior and physical aspects of wild-type flies from flies expressing the full-length MeCP2 gene and the mutated MeCP2 gene (R106W). After conducting these experiments, some of the Rett Syndrome symptoms were recapitulated in Drosophila, and a subset of those were partially ameliorated by the introduction of pifithrin-alpha.

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FCRL3 Gene Association with Asthma and Allergic Rhinitis

Sheikh et al. | Aug 05, 2020

FCRL3 Gene Association with Asthma and Allergic Rhinitis

This study sought to determine if there is an association between the single nucleotide polymorphism rs7528684 of the Fc receptor-like-3 (FCRL3) gene and asthma or allergic rhinitis (AR). Based on previous studies in an Asian population, we hypothesized that participants with an AA genotype of FCRL3 would be more likely to have asthma and/or allergic rhinitis. To test the hypothesis, surveys were administered to participants, and genotyping was performed on spit samples via PCR, restriction digest, and gel electrophoresis.

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DyGS: A Dynamic Gene Searching Algorithm for Cancer Detection

Wang et al. | Jun 05, 2018

DyGS: A Dynamic Gene Searching Algorithm for Cancer Detection

Wang and Gong developed a novel dynamic gene-searching algorithm called Dynamic Gene Search (DyGS) to create a gene panel for each of the 12 cancers with the highest annual incidence and death rate. The 12 gene panels the DyGS algorithm selected used only 3.5% of the original gene mutation pool, while covering every patient sample. About 40% of each gene panel is druggable, which indicates that the DyGS-generated gene panels can be used for early cancer detection as well as therapeutic targets in treatment methods.

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String analysis of exon 10 of the CFTR gene and the use of Bioinformatics in determination of the most accurate DNA indicator for CF prediction

Carroll et al. | Jul 12, 2020

String analysis of exon 10 of the CFTR gene and the use of Bioinformatics in determination of the most accurate DNA indicator for CF prediction

Cystic fibrosis is a genetic disease caused by mutations in the CFTR gene. In this paper, the authors attempt to identify variations in stretches of up to 8 nucleotides in the protein-coding portions of the CFTR gene that are associated with disease development. This would allow screening of newborns or even fetuses in utero to determine the likelihood they develop cystic fibrosis.

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