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The novel function of PMS2 mutation on ovarian cancer proliferation

Cho et al. | Dec 18, 2022

The novel function of <em>PMS2</em> mutation on ovarian cancer proliferation

With disruption of DNA repair pathways pertinent to the timeline of cancer, thorough evaluation of mutations relevant to DNA repair proteins is crucial within cancer research. One such mutation includes S815L PMS2 - a mutation that results in significant decrease of DNA repair function by PMS2 protein. While mutation of PMS2 is associated with significantly increased colorectal and endometrial cancer risk, much work is left to do to establish the functional effects of the S815L PMS2 mutation in ovarian cancer progression. In this article, researchers contribute to this essential area of research by uncovering the tumor-progressive effects of the S815L PMS2 mutation in the context of ovarian cancer cell lines.

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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 Effect of Common Cations on DNA Degradation

Larina et al. | Nov 06, 2016

The Effect of Common Cations on DNA Degradation

Heating of DNA-containing solutions is a part of many experiment protocols, but it can also cause damage and degradation of the DNA molecules, potentially leading to error in the experimental results. The authors of this paper investigate whether the presence of certain cations during heating can stabilize the DNA polymer and aid the preservation of the molecule.

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Examining the Accuracy of DNA Parentage Tests Using Computer Simulations and Known Pedigrees

Wang et al. | Jul 13, 2020

Examining the Accuracy of DNA Parentage Tests Using Computer Simulations and Known Pedigrees

How accurate are DNA parentage tests? In this study, the authors hypothesized that current parentage tests are reliable if the analysis involves only one or a few families of yellow perch fish Perca flavescens. Their results suggest that DNA parentage tests are reliable as long as the right methods are used, since these tests involve only one family in most cases, and that the results from parentage analyses of large populations can only be used as a reference.

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Computational Structure-Activity Relationship (SAR) of Berberine Analogs in Double-Stranded and G-Quadruplex DNA Binding Reveals Both Position and Target Dependence

Sun et al. | Dec 18, 2020

Computational Structure-Activity Relationship (SAR) of Berberine Analogs in Double-Stranded and G-Quadruplex DNA Binding Reveals Both Position and Target Dependence

Berberine, a natural product alkaloid, and its analogs have a wide range of medicinal properties, including antibacterial and anticancer effects. Here, the authors explored a library of alkyl or aryl berberine analogs to probe binding to double-stranded and G-quadruplex DNA. They determined that the nature of the substituent, the position of the substituent, and the nucleic acid target affect the free energy of binding of berberine analogs to DNA and G-quadruplex DNA, however berberine analogs did not result in net stabilization of G-quadruplex DNA.

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A novel approach for predicting Alzheimer’s disease using machine learning on DNA methylation in blood

Adami et al. | Sep 20, 2023

A novel approach for predicting Alzheimer’s disease using machine learning on DNA methylation in blood
Image credit: National Cancer Institute

Here, recognizing the difficulty associated with tracking the progression of dementia, the authors used machine learning models to predict between the presence of cognitive normalcy, mild cognitive impairment, and Alzheimer's Disease, based on blood DNA methylation levels, sex, and age. With four machine learning models and two dataset dimensionality reduction methods they achieved an accuracy of 53.33%.

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Impact of daf-25 and daf-11 Mutations on Olfactory Function in C. elegans

Gardner et al. | Feb 02, 2019

Impact of daf-25 and daf-11 Mutations on Olfactory Function in C. elegans

Cilia are little hair-like protrusions on many cells in the human body, including those lining the trachea where they play a role in clearing our respiratory tract of mucous and other irritants. Genetic mutations that impair ciliary function have serious consequences on our well-being making it important to understand how ciliary function is regulated. By using a simple organism, such as the worm C. elegans that use cilia to move, the authors explore the effect of certain genetic mutations on the cilia of the worms by measuring their ability to move towards or away from certain odorants.

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