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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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RNAi-based Gene Therapy Targeting ZGPAT Promotes EGF-dependent Wound Healing

Lee et al. | Nov 15, 2021

RNAi-based Gene Therapy Targeting ZGPAT Promotes EGF-dependent Wound Healing

Wound-healing involves a sequence of events, such as inflammation, proliferation, and migration of different cell types like fibroblasts. Zinc Finger CCCH-type with G-Patch Domain Containing Protein (ZGPAT), encodes a protein that has its main role as a transcription repressor by binding to a specific DNA sequence. The aim of the study was to find out whether inhibiting ZGPAT will expedite the wound healing process by accelerating cell migration. This treatment strategy can provide a key to the development of wound healing strategies in medicine and cellular biology.

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Thermoelectric Power Generation: Harnessing Solar Thermal Energy to Power an Air Conditioner

Lew et al. | Jul 06, 2021

Thermoelectric Power Generation: Harnessing Solar Thermal Energy to Power an Air Conditioner

The authors test the feasibility of using thermoelectric modules as a power source and as an air conditioner to decrease reliance on fossil fuels. The results showed that, at its peak, their battery generated 27% more power – in watts per square inch – than a solar panel, and the thermoelectric air conditioner operated despite an unsteady input voltage. The battery has incredible potential, especially if its peak power output can be maintained.

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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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Expression of Anti-Neurodegeneration Genes in Mutant Caenorhabditis elegans Using CRISPR-Cas9 Improves Behavior Associated With Alzheimer’s Disease

Mishra et al. | Sep 14, 2019

Expression of Anti-Neurodegeneration Genes in Mutant <em>Caenorhabditis elegans</em> Using CRISPR-Cas9 Improves Behavior Associated With Alzheimer’s Disease

Alzheimer's disease is one of the leading causes of death in the United States and is characterized by neurodegeneration. Mishra et al. wanted to understand the role of two transport proteins, LRP1 and AQP4, in the neurodegeneration of Alzheimer's disease. They used a model organism for Alzheimer's disease, the nematode C. elegans, and genetic engineering to look at whether they would see a decrease in neurodegeneration if they increased the amount of these two transport proteins. They found that the best improvements were caused by increased expression of both transport proteins, with smaller improvements when just one of the proteins is overly expressed. Their work has important implications for how we understand neurodegeneration in Alzheimer's disease and what we can do to slow or prevent the progression of the disease.

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Upregulation of the Ribosomal Pathway as a Potential Blood-Based Genetic Biomarker for Comorbid Major Depressive Disorder (MDD) and PTSD

Ravi et al. | Aug 22, 2018

Upregulation of the Ribosomal Pathway as a Potential  Blood-Based Genetic Biomarker for Comorbid Major Depressive Disorder (MDD) and PTSD

Major Depressive Disorder (MDD), and Post-Traumatic Stress Disorder (PTSD) are two of the fastest growing comorbid diseases in the world. Using publicly available datasets from the National Institute for Biotechnology Information (NCBI), Ravi and Lee conducted a differential gene expression analysis using 184 blood samples from either control individuals or individuals with comorbid MDD and PTSD. As a result, the authors identified 253 highly differentially-expressed genes, with enrichment for proteins in the gene ontology group 'Ribosomal Pathway'. These genes may be used as blood-based biomarkers for susceptibility to MDD or PTSD, and to tailor treatments within a personalized medicine regime.

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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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Plasmid Variance and Nutrient Regulation of Bioluminescence Genes

Uhler et al. | Dec 09, 2014

Plasmid Variance and Nutrient Regulation of Bioluminescence Genes

Numerous organisms, including the marine bacterium Aliivibrio fischeri, produce light. This bioluminescence is involved in many important symbioses and may one day be an important source of light for humans. In this study, the authors investigated ways to increase bioluminescence production from the model organism E. coli.

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