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Refinement of Single Nucleotide Polymorphisms of Atopic Dermatitis related Filaggrin through R packages

Naravane et al. | Oct 12, 2022

Refinement of Single Nucleotide Polymorphisms of Atopic Dermatitis related Filaggrin through R packages

In the United States, there are currently 17.8 million affected by atopic dermatitis (AD), commonly known as eczema. It is characterized by itching and skin inflammation. AD patients are at higher risk for infections, depression, cancer, and suicide. Genetics, environment, and stress are some of the causes of the disease. With the rise of personalized medicine and the acceptance of gene-editing technologies, AD-related variations need to be identified for treatment. Genome-wide association studies (GWAS) have associated the Filaggrin (FLG) gene with AD but have not identified specific problematic single nucleotide polymorphisms (SNPs). This research aimed to refine known SNPs of FLG for gene editing technologies to establish a causal link between specific SNPs and the diseases and to target the polymorphisms. The research utilized R and its Bioconductor packages to refine data from the National Center for Biotechnology Information's (NCBI's) Variation Viewer. The algorithm filtered the dataset by coding regions and conserved domains. The algorithm also removed synonymous variations and treated non-synonymous, frameshift, and nonsense separately. The non-synonymous variations were refined and ordered by the BLOSUM62 substitution matrix. Overall, the analysis removed 96.65% of data, which was redundant or not the focus of the research and ordered the remaining relevant data by impact. The code for the project can also be repurposed as a tool for other diseases. The research can help solve GWAS's imprecise identification challenge. This research is the first step in providing the refined databases required for gene-editing treatment.

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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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Application of gene therapy for reversing T-cell dysfunction in cancer

Hyun Lee et al. | Aug 25, 2022

Application of gene therapy for reversing T-cell dysfunction in cancer

Since cancer cells inhibit T-cell activity, the authors investigated a method to reverse T-cell disfunction with gene therapy, so that the T-cells would become effective once again in fighting cancer cells. They used the inhibition of proprotein convertases (PCSK1) in T cells and programmed death-ligand 1 (CD274) in cancer cells. They observed the recovery of IL-2 expression in Jurkat cells, with increased recovery noted in a co-culture sample. This study suggests a novel strategy to reactivate T cells.

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Breast cancer mammographic screening by different guidelines among women of different races/ethnicities

Wang et al. | Aug 27, 2023

Breast cancer mammographic screening by different guidelines among women of different races/ethnicities

Mammographic screening is a common diagnostic tool for breast cancer among average-risk women. The authors hypothesized that adherence rates for mammographic screening may be lower among minorities (non-Hispanic black (NHB) and Hispanic/Latino) than among non-Hispanic whites (NHW) regardless of the guideline applied. The findings support other studies’ results that different racial/ethnic and socio-demographic factors can affect screening adherence. Therefore, healthcare providers should promote breast cancer screening especially among NHW/Hispanic women and women lacking insurance coverage.

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Molecular Alterations in a High-Fat Mouse Model Before the Onset of Diet–Induced Nonalcoholic Fatty Liver Disease

Lee et al. | Sep 20, 2016

Molecular Alterations in a High-Fat Mouse Model Before the Onset of Diet–Induced Nonalcoholic Fatty Liver Disease

Nonalcoholic fatty liver disease (NAFLD) is one of the most prevalent chronic liver diseases worldwide, but there are few studied warning signs for early detection of the disease. Here, researchers study alterations that occur in a mouse model of NAFLD, which indicate the onset of NAFLD sooner. Earlier detection of diseases can lead to better prevention and treatment.

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Model selection and optimization for poverty prediction on household data from Cambodia

Wong et al. | Sep 29, 2023

Model selection and optimization for poverty prediction on household data from Cambodia
Image credit: Paul Szewczyk

Here the authors sought to use three machine learning models to predict poverty levels in Cambodia based on available household data. They found teat multilayer perceptron outperformed the other models, with an accuracy of 87 %. They suggest that data-driven approaches such as these could be used more effectively target and alleviate poverty.

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The effects of COVID-19 pandemic social isolation on the mental and physical health of the general population

Cinque et al. | Oct 15, 2022

The effects of COVID-19 pandemic social isolation on the mental and physical health of the general population

Here, seeking to better understand on the effects of social isolation during the COVID-19 pandemic, the authors used a survey during April and May of 2020 of participants primarily in Long Island, NY to assess the physical and mental health of the general population. They found negative impacts to physical health and increases in depressive symptoms and feelings of loneliness across all groups. More significant increases in negative mental health symptoms were observed in younger age groups and amongst women.

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