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Unique characteristics of G719X and S768I compound double mutations of epidermal growth factor receptor (EGFR) gene in lung cancer of coal-producing areas of East Yunnan in Southwestern China
BackgroundThe principal objective of this project was to investigate the Epidermal Growth Factor Receptor ( EGFR ) gene mutation characteristics of...
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A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities
Ubiquitin-specific protease 8 ( USP8 ) is a deubiquitinating enzyme involved in deubiquitinating the enhanced epidermal growth factor receptor for...
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Tissue factor (coagulation factor III): a potential double-edge molecule to be targeted and re-targeted toward cancer
Tissue factor (TF) is a protein that plays a critical role in blood clotting, but recent research has also shown its involvement in cancer...
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Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant
The USH2A variant c.2276 G > T (p.(Cys759Phe)) has been described by many authors as a frequent cause of autosomal recessive retinitis pigmentosa...
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Tight junction protein cingulin variant is associated with cancer susceptibility by overexpressed IQGAP1 and Rac1-dependent epithelial-mesenchymal transition
BackgroundCingulin (CGN) is a pivotal cytoskeletal adaptor protein located at tight junctions. This study investigates the link between CGN mutation...
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Integrated approach to functional analysis of an ERBB2 variant of unknown significance detected by a cancer gene panel test
PurposeDealing with variants of unknown significance (VUS) is an important issue in the clinical application of NGS-based cancer gene panel tests. We...
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Tl(I) and Tl(III)-induce genotoxicity, reticulum stress and autophagy in PC12 Adh cells
Thallium (Tl) and its two cationic species, Tl(I) and Tl(III), are toxic for most living beings. In this work, we investigated the effects of Tl...
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Homozygous variant in MADD, encoding a Rab guanine nucleotide exchange factor, results in pleiotropic effects and a multisystemic disorder
Rab proteins coordinate inter-organellar vesicle-mediated transport, facilitating intracellular communication, protein recycling, and signaling...
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Familial cleft tongue caused by a unique translation initiation codon variant in TP63
Variants in transcription factor p63 have been linked to several autosomal dominantly inherited malformation syndromes. These disorders show...
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E26 transformation-specific transcription variant 5 in development and cancer: modification, regulation and function
E26 transformation-specific (ETS) transcription variant 5 (ETV5), also known as ETS-related molecule (ERM), exerts versatile functions in normal...
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Divarasib plus cetuximab in KRAS G12C-positive colorectal cancer: a phase 1b trial
KRAS G12C mutation is prevalent in ~4% of colorectal cancer (CRC) and is associated with poor prognosis. Divarasib, a KRAS G12C inhibitor, has shown...
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Non-small Cell Lung Cancer with EGFR or HER2 Exon 20 Insertion Mutations: Diagnosis and Treatment Options
Molecular testing is performed upon diagnosis of non-small cell lung cancer (NSCLC) because of the large success of targeted therapies for oncogenic...
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HER Receptor, Current, and Emerging Therapeutic Targets
The human epidermal growth factor receptor (HER/ErbB) family consists of four members: HER-1 or epidermal growth factor receptor (EGFR), HER-2,...
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Impact of IL-6 and IL-1β Gene Variants on Non-small-cell Lung Cancer Risk in Egyptian Patients
Lung cancer is a serious health and life issue, with the fastest-growing incidence and fatality rates worldwide. It is now clear that inflammation is...
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A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss
Mitochondrial disorders are collectively common, genetically heterogeneous disorders in both pediatric and adult populations. They are caused by...
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Evidence that direct inhibition of transcription factor binding is the prevailing mode of gene and repeat repression by DNA methylation
Cytosine methylation efficiently silences CpG-rich regulatory regions of genes and repeats in mammalian genomes. To what extent this entails direct...
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Association of GSTP1 p.Ile105Val (rs1695, c.313A > G) Variant with the Risk of Breast Carcinoma among Egyptian Women
Several reports examined the association of the GSTP1 p.Ile105Val (rs1695, c.313A > G) variant with the elevated risk of multiple cancerous diseases...
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Gastrointestinal microbiota profile and clinical correlations in advanced EGFR-WT and EGFR-mutant non-small cell lung cancer
IntroductionDifference in clinical responses to cancer therapy in each patient is from several factors. Gastrointestinal microbiota is one of the...
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Flagellin synergistically enhances anti-tumor effect of EGFRvIII peptide in a glioblastoma-bearing mouse brain tumor model
BackgroundGlioblastoma (GBM) is the most aggressive type of brain tumor with heterogeneity and strong invasive ability. Treatment of GBM has not...
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Oncogenic functions of the FOXC2 transcription factor: a hallmarks of cancer perspective
Epigenetic regulation of gene expression is a fundamental determinant of molecular and cellular function, and epigenetic reprogramming in the context...
