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Genetic underpinnings of the sex bias in autism spectrum disorder

Lee et al. | Mar 29, 2024

Genetic underpinnings of the sex bias in autism spectrum disorder
Image credit: Louis Reed

Here, seeking to identify a possible explanation for the more frequent diagnosis of autism spectrum disorder (ASD) in males than females, they sought to investigate a potential sex bias in the expression of ASD-associated genes. Based on their analysis, they identified 17 ASD-associated candidate genes that showed stronger collective sex-dependent expression.

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The Bioactive Ingredients in Niuli Lactucis Agrestibus Possess Anticancer Effects

Zhu et al. | Sep 17, 2019

The Bioactive Ingredients in Niuli Lactucis Agrestibus Possess Anticancer Effects

In​ the​ field​ of​ medicine,​ natural​ treatments​ are​ becoming ​increasingly ​vital ​towards ​the ​cure ​of ​cancer. Zhu et al. wanted to investigate the effects of lettuce extract on cancer cell survival and proliferation. They used an adenocarcinoma cell line, COLO320DM, to determine whether crude extract from a lettuce species called Niuli​ Lactucis Agrestibus​ would affect cancer cell survival, migration, and proliferation. They found that Niuli extract inhibited cancer cell survival, increased expression of cell cycle inhibitors p21 and p27, and inhibited migration. However, Niuli extract did not have these effects on healthy cells. This work reveals important findings about a potential new source of anti-colorectal cancer compounds.

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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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Down-regulation of CD44 inhibits Wnt/β-catenin mediated cancer cell migration and invasion in gastric cancer

Baek et al. | May 10, 2021

Down-regulation of CD44 inhibits Wnt/β-catenin mediated cancer cell migration and invasion  in gastric cancer

In this study, we aimed to characterize CD44-mediated regulation of the Wnt/β-catenin signaling pathway, which promotes cancer invasion and metastasis. We hypothesized that CD44 down-regulation will inhibit gastric cancer cell migration and invasion by leading to down-regulation of Wnt/β-catenin signaling. We found that CD44 up-regulation was significantly related to poor prognosis in gastric cancer patients. We demonstrated the CD44 down-regulation decreased β-catenin protein expression level. Our results suggest that CD44 down-regulation inhibits cell migration and invasion by down-regulating β-catenin expression level.

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The role of xpa-1 and him-1 in UV protection of Caenorhabditis elegans

Tung et al. | Feb 25, 2022

The role of <em>xpa-1</em> and <em>him-1</em> in UV protection of <em>Caenorhabditis elegans</em>

Caenorhabditis elegans xpa-1 and him-1 are orthologs of human XPA and human SMC1A, respectively. Mutations in the XPA are correlated with Xeroderma pigmentosum, a condition that induces hypersensitivity to ultraviolet (UV) radiation. Alternatively, SMC1A mutations may lead to Cornelia de Lange Syndrome, a multi-organ disorder that makes patients more sensitive to UVinduced DNA damage. Both C. elegans genes have been found to be involved in protection against UV radiation, but their combined effects have not been tested when they are both knocked down. The authors hypothesized that because these genes are involved in separate pathways, the simultaneous knockdown of both of these genes using RNA interference (RNAi) in C. elegans will cause them to become more sensitive to UV radiation than either of them knocked down individually. UV protection was measured via the percent survival of C. elegans post 365 nm and 5.4x10-19 joules of UV radiation. The double xpa-1/him-1 RNAi knockdown showed a significantly reduced percent survival after 15 and 30 minutes of UV radiation relative to wild-type and xpa-1 and him-1 single knockdowns. These measurements were consistent with their hypothesis and demonstrated that xpa-1 and him-1 genes play distinct roles in resistance against UV stress in C. elegans. This result raises the possibility that the xpa-1/him-1 double knockdown could be useful as an animal model for studying the human disease Xeroderma pigmentosum and Cornelia de Lange Syndrome.

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Contrasting role of ASCC3 and ALKBH3 in determining genomic alterations in Glioblastoma Multiforme

Sriram et al. | Sep 27, 2022

Contrasting role of <i>ASCC3</i> and <i>ALKBH3</i> in determining genomic alterations in Glioblastoma Multiforme

Glioblastoma Multiforme (GBM) is the most malignant brain tumor with the highest fraction of genome alterations (FGA), manifesting poor disease-free status (DFS) and overall survival (OS). We explored The Cancer Genome Atlas (TCGA) and cBioportal public dataset- Firehose legacy GBM to study DNA repair genes Activating Signal Cointegrator 1 Complex Subunit 3 (ASCC3) and Alpha-Ketoglutarate-Dependent Dioxygenase AlkB Homolog 3 (ALKBH3). To test our hypothesis that these genes have correlations with FGA and can better determine prognosis and survival, we sorted the dataset to arrive at 254 patients. Analyzing using RStudio, both ASCC3 and ALKBH3 demonstrated hypomethylation in 82.3% and 61.8% of patients, respectively. Interestingly, low mRNA expression was observed in both these genes. We further conducted correlation tests between both methylation and mRNA expression of these genes with FGA. ASCC3 was found to be negatively correlated, while ALKBH3 was found to be positively correlated, potentially indicating contrasting dysregulation of these two genes. Prognostic analysis showed the following: ASCC3 hypomethylation is significant with DFS and high ASCC3 mRNA expression to be significant with OS, demonstrating ASCC3’s potential as disease prediction marker.

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