“…Nowadays, this goal might potentially be achieved thanks to the development of novel innovative treatment strategies, including those targeting driver mutations, apoptosis, methylation patterns and leukemic proteins. …”
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“…We aimed to analyze the impact of mitochondrial DNA copy number (mtDNACN) and also SNVs and INDELs in frequently mutated mitochondrial-related genes on the disease course of monoclonal gammopathies and MM. …”
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“…Nevertheless, subtype identification is based on the diagnosis of characteristic gene mutations occurring in each subtype. The aim of the study was the metabolomics analysis of the early stage of NSCLC and the determination of new biochemical pathways differentiating the subtypes. …”
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“…Using immunoaffinity purification, we identify IFIX acetylation and phosphorylation sites. Mutations to acetyl or charge mimics demonstrate that K138 acetylation, positioned within the NLS, affects nuclear localization. …”
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“…The main factor influencing the high expression of SHOX2 mRNA may be DNA methylation, followed by copy number variation (CNV), but not by gene mutations in LUAD. Unexpectedly, we found that SHOX2 undergoes hypomethylation in the gene body instead of hypermethylation in the promoter. …”
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“…Retention was observed even when several of these polar residues were exchanged for alanine. Mutations with a strong impact on E1 retention prevented recovery of infectious viruses when tested in the viral context. …”
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“…Work is underway to narrow the range of these associated regions to identify the underlying causal mutations.…”
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“…BACKGROUND: Gefitinib is an epidermal growth factor receptor tyrosine kinase inhibitor (EGFR‐TKI), clinically used to treat patients with non‐small cell lung cancer driven by EGFR mutations. Unfortunately, EGFR‐TKI resistance has become a clinical problem for the effective treatment of NSCLC patients. …”
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“…Additionally, we identified the key transcription factor (TF) targets in the regulation of HLA-G expression, including HIVEP2, MYCN, CIITA, MYC, and IRF1. Multiple mutations (missense, truncating, etc.) and the methylation status of the HLA-G gene may explain the differential expression of HLA-G across different tumors. …”
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“…With the 17 gRNAs construct we generated a collection of Cas9-free SPL edited T(1) plants harboring up to 9 biallelic mutations and showing leaf juvenility and more branching. …”
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“…Additional survival analysis was conducted after integrating neoantigen load predicted from somatic mutations. Pathways activated in non-T cell-inflamed relative to T cell-inflamed tumors were analyzed using causal network analysis. …”
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“…Furthermore, the correlation between AhR and two immunotherapeutic biomarkers (tumor mutational burden and microsatellite instability) was investigated. …”
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“…Mutations in CLN5 cause a subtype of neuronal ceroid lipofuscinosis (NCL) called CLN5 disease. …”
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“…This development opens the door to precision genome editing, raising the possibility of treating thousands of genetic diseases that are caused by single point mutations in the human genome. Here, David talks about this exciting time for genome editing.…”
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“…Furthermore, growing numbers of mapped missense as well as protein non-coding mutations in MOWS patients are becoming available and inspire the design of new animal model and pluripotent stem cell-based systems. …”
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“…DNA damage response (DDR) proteins, including ATR (ataxia telangiectasia and Rad3-related), ATM (ataxia telangiectasia mutated) and DNA-PK (DNA-dependent protein kinase), have been promising therapeutic targets for decades. …”
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“…The acrolein-transformed NOK cells showed EGFR copy number amplification, increased EGFR expression, and activation of downstream ERK and AKT signaling pathway. No p53 mutations were observed in acrolein-transformed NOK cells. …”
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“…In addition, the epitope was mutated using CRISPR-Cas9 to illustrate that the fusion protein elicited immunization against STEAP1. (3) Results: The TCGA database analysis, PCR, and Western blotting showed that STEAP1 was highly expressed in human and murine prostate cancer. …”
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“…RS1 loss-of-function mutations cause XLRS disease in young boys and men, with splitting (“schisis”) of retinal layers and synaptic dysfunction that cause progressive vision loss with age. …”
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“…Cell-derived inactivated quadrivalent influenza vaccines (cIIV4) may improve protection in seasons in which egg-propagated influenza viruses undergo mutations that affect antigenicity. This study aimed to estimate the relative vaccine effectiveness (rVE) of cIIV4 versus egg-derived inactivated quadrivalent influenza vaccines (eIIV4) in preventing influenza-related medical encounters in individuals with underlying medical conditions putting them at high risk of influenza complications during the 2018–2019 US influenza season. …”
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