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Deciphering correlation and causation in risk factors for heart disease with Mendelian randomization

Singh et al. | Feb 08, 2023

Deciphering correlation and causation in risk factors for heart disease with Mendelian randomization
Image credit: Robina Weermeijer

Here, seeking to identify the risk of coronary artery disease (CAD), a major cause of cardiovascular disease, the authors used Mendelian randomization. With this method they identified several traits such as blood pressure readings, LDL cholesterol and BMI as significant risk factors. While other traits were not found to be significant risk factors.

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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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Testing HCN1 channel dysregulation in the prefrontal cortex using a novel piezoelectric silk neuromodulator

Mathew et al. | May 05, 2021

Testing HCN1 channel dysregulation in the prefrontal cortex using a novel piezoelectric silk neuromodulator

Although no comprehensive characterization of schizophrenia exists, there is a general consensus that patients have electrical dysfunction in the prefrontal cortex. The authors designed a novel piezoelectric silk-based implant and optimized electrical output through the addition of conductive materials zinc oxide (ZnO) and aluminum nitride (AlN). With further research and compatibility studies, this implant could rectify electrical misfiring in the infralimbic prefrontal cortex.

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Evaluation of Microplastics in Japanese Fish Using Visual and Chemical Dissections

Srebnik et al. | Jan 20, 2021

Evaluation of Microplastics in Japanese Fish Using Visual and Chemical Dissections

Does the overuse of plastic in Japan poses an ecological risk to marine species and their consumers? Using visual and chemical dissection, all fish in this study were found to have microplastics present in their gastrointestinal tract, including two species that are typically eaten whole in Japan. Overall, these results are concerning as previous studies have found that microplastics can carry persistent organic pollutants. It is presumed that the increasing consumption of microplastics will have negative implications on organ systems such as the liver, gut, and hormones.

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Investigating Lymphocytic Involvement in Minimal Change Nephrotic Syndrome

Muncan et al. | Jan 27, 2016

Investigating Lymphocytic Involvement in Minimal Change Nephrotic Syndrome

Minimal Change Disease (MCD) is a degenerative kidney disease. Researchers know very little about the cause of this disorder, however some research has suggested that T lymphocytes may be involved. In this study, the authors measure CD4 and CD8 T cell subpopulations in patients with MCD to investigate whether irregular T lymphocyte populations may be involved in MCD pathogenesis.

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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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The role of CYP46A1 and its metabolic product, 24S-hydroxycholesterol, in Neuro 2A cell death

Ni et al. | May 11, 2021

The role of CYP46A1 and its metabolic product, 24S-hydroxycholesterol, in Neuro 2A cell death

Cholesterol is a major component of neuronal cell membrane and myelin sheath. In this study, the authors either transfected Neuro 2A cells with CYP46A1 cDNA or treated the cells with 24SHC. Cells expressing CYP46A1 had significantly less viability compared to the negative control. Up to 55% reduction in cell viability was also observed in 24S-HC-treated cells. This work supports that CYP46A1 and 24S-HC could directly trigger cell death. The direct involvement of 24S-HC in cell death provides further evidence that 24S-HC can be a promising biomarker for diagnosing brain damage severity.

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Investigating the Role of the Novel ESCRT-III Recruitment Factor CCDC11 in HIV Budding: A Potential Target for Antiviral Therapy

Takemaru et al. | Feb 24, 2020

Investigating the Role of the Novel ESCRT-III Recruitment Factor CCDC11 in HIV Budding: A Potential Target for Antiviral Therapy

Acquired immunodeficiency syndrome (AIDS) is a life-threatening condition caused by the human immunodeficiency virus (HIV). In this work, Takemaru et al explored the role of Coiled-Coil Domain-Containing 11 (CCDC11) in HIV-1 budding. Their results suggest that CCDC11 is critical for efficient HIV-1 budding, potentially indicating CCDC11 a viable target for antiviral therapeutics without major side effects.

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