AIMC Topic: Mutation

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Emerging therapeutic strategies in muscular dystrophy: an updated review on pathogenesis and treatment advances.

Molecular biology reports
Muscular dystrophy (MD) comprises a class of genetic conditions characterized by the progressive degeneration and weakness of skeletal muscle. Genetic etiologies differ among the major muscular dystrophies: myotonic dystrophy type 1 (DM1) is linked t...

Machine learning-powered single-molecule cancer diagnosis using DNA origami tags.

Science advances
Single-molecule detection (SMD) holds considerable promise in biomedical research. Although atomic force microscopy (AFM) provides an important technique with nanoscale resolution for SMD, its broader application is limited by labeling challenges and...

Deep learning-based MRI model for predicting P53-mutated hepatocellular carcinoma.

BMC medical imaging
BACKGROUND: The P53-mutated Hepatocellular Carcinoma (HCC) is an aggressive variant associated with vascular endothelial growth factor (VEGF) overexpression and increased microvascular density. This study aimed to develop an MRI-based deep learning m...

EvoZymePro-Cat: A Protein-Ligand-Aware Deep Learning Framework for Predicting Mutation Effects in Enzyme Function.

ACS synthetic biology
Enzymes are biological catalysts that speed up chemical reactions in an eco-friendly way. Precise enzyme design is hindered by vast sequence space and intricate sequence-structure-function interdependencies. To address these challenges, we developed ...

A novel prognostic model for lung squamous cell carcinoma based on multi-omics analysis and machine learning.

PloS one
Lung squamous-cell carcinoma (LUSC) is a highly aggressive malignancy with a poor prognosis. Tertiary lymphoid structures (TLS) play a crucial role in the immune response and significantly influence the efficacy of immunotherapy. However, the prognos...

SynSeg: A synthetic data-driven approach for robust subcellular structure segmentation.

The Journal of cell biology
Accurate subcellular segmentation is crucial for understanding cellular processes, but traditional methods struggle with noise and complex structures. Convolutional neural networks improve accuracy but require large, time-consuming, and biased manual...

Towards a practical tool to identify genotype using high-speed videomicroscopy.

Thorax
The diagnosis of primary ciliary dyskinesia (PCD) can be challenging in patients with mutations in the gene, despite using electron microscopy tomography and ciliary motion analysis. Also, mutational analysis is hindered by a paralogous copy of the ...

CDCA7 facilitates MET1-mediated CG DNA methylation maintenance in centromeric heterochromatin via linker histone H1.

Proceedings of the National Academy of Sciences of the United States of America
DNA methylation is a conserved epigenetic modification essential for maintaining genome stability. However, how methyltransferases maintain CG methylation within compact chromatin, including centromeres, remains unclear. In humans, CDCA7 is necessary...

The - 216G/T polymorphism in the EGFR gene: A review focusing on Non-Small lung cancer.

Molecular biology reports
The epidermal growth factor receptor (EGFR) is a key regulator of cell proliferation and a well-established therapeutic target in non-small-cell lung cancer (NSCLC). Somatic mutations in the EGFR gene have been widely studied in the context of tyrosi...

Enhancing kinase-inhibitor activity and selectivity prediction through contrastive learning.

Nature communications
Developing selective kinase inhibitors is challenging due to the conserved kinase structures and costly kinome profiling experiments, highlighting the need for accurate prediction of kinase-inhibitor affinity and specificity. Here we present MMCLKin,...