AIMC Topic: Mutation

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Unravelling mutation patterns in Extended-Spectrum β-Lactamases for precision drug design against AMR in Enterobacteriaceae.

Molecular genetics and genomics : MGG
Antimicrobial resistance (AMR) presents a critical global challenge, causing over 1.27 million deaths annually, with projections reaching 10 million by 2050. Among the most concerning contributors are Enterobacteriaceae, particularly Escherichia coli...

AI cancer driver mutation predictions are valid in real-world data.

Nature communications
Characterizing and validating which mutations influence development of cancer is challenging. Artificial intelligence (AI) has delivered significant advances in protein structure prediction, but its utility for identifying cancer drivers is less expl...

Stochastic epigenetic mutation profiles as biomarkers of clinical activity in juvenile idiopathic arthritis: a multi-omic machine learning approach for gene prioritization.

Molecular medicine (Cambridge, Mass.)
BACKGROUND: Juvenile idiopathic arthritis (JIA) is a rare autoimmune disease arising from a complex interplay between genetic and environmental factors. Epigenetic modifications such as DNA methylation (DNAm) have been described as potential mediator...

Novel antimicrobial peptide HFIAP-1 mutant as a β-lactamase inhibitor against extended-spectrum β-lactamases of Escherichia coli: a comprehensive in-silico approach.

Archives of microbiology
Extended-spectrum β-lactamases in Escherichia coli poses a significant threat for clinicians in tertiary healthcare settings, rendering treatments ineffective with newer β-lactam-β-lactamase inhibitors combinations. To overcome this, the present stud...

Employing deep mutational scanning in the periplasm to decode the thermodynamic landscape for amyloid formation.

Proceedings of the National Academy of Sciences of the United States of America
Deep mutational scanning (DMS) assays provide a powerful method to generate large-scale datasets essential for advancing AI-driven predictions in biology. The tripartite β-lactamase assay (TPBLA), in which a protein of interest is inserted between tw...

Learning the cellular origins across cancers using single-cell chromatin landscapes.

Nature communications
Deciphering the pre-malignant cell of origin (COO) of different cancers is critical for understanding tumor development and improving diagnostic and therapeutic strategies in oncology. Prior work demonstrates that somatic mutations preferentially acc...

Residual disease in NPM1-mutated acute myeloid leukemia.

Clinica chimica acta; international journal of clinical chemistry
Acute myeloid leukemia (AML) represents a genetically heterogeneous malignancy, with mutations in the nucleophosmin-1 (NPM1) gene identified as the most prevalent and clinically significant molecular biomarkers. These mutations play a crucial pivotal...

Recognition of molecular clusters and a novel prognostic signature based on natural killer cell-related genes in skin cutaneous melanoma.

World journal of surgical oncology
BACKGROUND: Skin cutaneous melanoma (SKCM) is the third most common type of cutaneous malignant tumor with a poor prognosis. This research aimed to recognize molecular clusters and develop a novel prognostic signature based on natural killer (NK) cel...

Prediction of protein structural changes mediated by NS-SNPs in antibiotic resistance determinants in Streptococcus pneumoniae.

Archives of microbiology
Streptococcus pneumoniae (S. pneumoniae) is a gram-positive bacterium, which is a human pathogen that colonises the human nasopharyngeal region. The evolution of its resistance to many antibiotics has become a major clinical and public health problem...