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Relationship between BCL2 mutations and follicular lymphoma outcome in the chemoimmunotherapy era
How to identify follicular lymphoma (FL) patients with low disease burden but high risk for early progression is unclear. Building on a prior study...
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Global landscape of SARS-CoV-2 mutations and conserved regions
BackgroundAt the end of December 2019, a novel strain of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) disease (COVID-19) has been...
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SARS-CoV-2: analysis of the effects of mutations in non-structural proteins
A worldwide pandemic that started in China in late 2019 was caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), a single-stranded...
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HER2 Testing in Breast and Gastric Cancer with CDH1 Germline Mutations
The role of human epidermal growth factor receptor-2 (HER2) is involved in epithelial cells growth and differentiation and has been widely studied in...
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Exonic mutations in cell–cell adhesion may contribute to CADASIL-related CSVD pathology
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a condition caused by mutations in NOTCH3 and...
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A novel transformer-based aggregation model for predicting gene mutations in lung adenocarcinoma
AbstractIn recent years, predicting gene mutations on whole slide imaging (WSI) has gained prominence. The primary challenge is extracting global...
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Spatial architectures of somatic mutations in normal prostate, benign prostatic hyperplasia and coexisting prostate cancer
This study aimed to identify somatic mutations in nontumor cells (NSMs) in normal prostate and benign prostatic hyperplasia (BPH) and to determine...
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Evolutionary Forces That Generate SNPs: The Evolutionary Impacts of Synonymous Mutations
During the 50 years since the genetic code was cracked, our understanding of the evolutionary consequences of synonymous mutations has undergone a...
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Functional characterization and in vitro pharmacological rescue of KCNQ2 pore mutations associated with epileptic encephalopathy
Mutations in the KCNQ2 gene encoding K V 7.2 subunit that mediates neuronal M-current cause a severe form of developmental and epileptic encephalopathy...
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Respective roles of Pik3ca mutations and cyproterone acetate impregnation in mouse meningioma tumorigenesis
Despite their rarity, PIK3CA mutations in meningiomas have raised interest as potentially targetable, ubiquitous mutations owing to their presence in...
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kdr mutations and deltamethrin resistance in house flies in Abu Dhabi, UAE
BackgroundThe house fly, Musca domestica , is a significant carrier of diseases that can impact public health. Repeated use of pyrethroid...
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What can we learn about acid-base transporters in cancer from studying somatic mutations in their genes?
Acidosis is a chemical signature of the tumour microenvironment that challenges intracellular pH homeostasis. The orchestrated activity of acid-base...
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Highly Sensitive Detection of PIK3CA Mutations by Loo**-Out Probes-Based Melting Curve Analysis
PIK3CA mutations have important therapeutic and prognostic implications in various cancer types. However, highly sensitive detection of PIK3CA ...
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Implications of ALS-Associated Mutations on Biochemical and Biophysical Features of hSOD1 and Aggregation Formation
One of the recognized motor neuron degenerative disorders is amyotrophic lateral sclerosis (ALS). By now, several mutations have been reported and...
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Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development
Malformations of cortical development (MCD) are neurological conditions involving focal disruptions of cortical architecture and cellular...
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Using CRISPR-Cas9 to Dissect Cancer Mutations in Cell Lines
The CRISPR-Cas9 technology has revolutionized the scope and pace of biomedical research, enabling the targeting of specific genomic sequences for a...
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Somatic mutations can induce a noninflamed tumour microenvironment via their original gene functions, despite deriving neoantigens
BackgroundIdentifying biomarkers to predict immune checkpoint inhibitor (ICI) efficacy is warranted. Considering that somatic mutation-derived...
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No detectable truncating mutations in large T antigen (LT-Ag) sequence of Merkel cell polyomavirus (MCPyV) DNA obtained from porocarcinomas
Merkel cell polyomavirus (MCPyV) is associated with Merkel cell carcinoma (MCC). In tumor cells the MCPyV large T antigen (LT-Ag) is frequently found...
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Charge-changing point mutations in the E protein of tick-borne encephalitis virus
Introduction of point mutations is one of the forces enabling arboviruses to rapidly adapt in a changing environment. The influence of these...
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Systematic and quantitative analysis of stop codon readthrough in Rett syndrome nonsense mutations
AbstractRett syndrome (RTT) is a neurodevelopmental disorder resulting from genetic mutations in the methyl CpG binding protein 2 ( MeCP2 ) gene....
