AIMC Topic: Mutation

Clear Filters Showing 1 to 10 of 664 articles

Phenotype augmentation using generative AI for isocitrate dehydrogenase mutation prediction in glioma.

Scientific reports Aug 7, 2025
This study investigated the effects of feature augmentation, which uses generated images with specific imaging features, on the performance of isocitrate dehydrogenase (IDH) mutation prediction models in gliomas. A total of 598 patients were included...
Phenotype Female Aged Adult Humans Glioma Magnetic Resonance Imaging Mutation Isocitrate Dehydrogenase Brain Neoplasms Male Middle Aged
View on PubMed DOI

Advances in mass spectrometry of lipids for the investigation of Niemann-pick type C disease.

Lipids in health and disease Jul 30, 2025
Niemann-Pick type C (NPC) disease is a devastating, fatal, neurodegenerative disease and a form of lysosomal storage disorder. It is caused by mutations in either NPC1 or NPC2 genes, leading to the accumulation of cholesterol and other lipids in the ...
Mass Spectrometry Humans Lipidomics Lipids Biomarkers Niemann-Pick Disease, Type C Mutation Vesicular Transport Proteins Niemann-Pick C1 Protein Cholesterol Lipid Metabolism Animals
View on PubMed DOI

Generating realistic artificial human genomes using adversarial autoencoders.

NAR genomics and bioinformatics Jul 24, 2025
A publicly available human genome is both valuable to researchers and a risk for its donor. Many actors could exploit it to extract information about the donor's health or that of their relatives. Recent efforts have employed artificial intelligence ...
Artificial Intelligence Algorithms Genomics Mutation Humans Genome, Human Autoencoder Linkage Disequilibrium
View on PubMed DOI

Machine learning-guided evolution of pyrrolysyl-tRNA synthetase for improved incorporation efficiency of diverse noncanonical amino acids.

Nature communications Jul 19, 2025
The pyrrolysyl-tRNA synthetase (PylRS) is widely used to incorporate noncanonical amino acids (ncAAs) into proteins. However, the yields of most ncAA-containing protein  remain low due to the limited activity of PylRS variants. Here, we apply machine...
Amino Acyl-tRNA Synthetases Directed Molecular Evolution Protein Engineering Codon, Terminator Machine Learning RNA, Transfer Lysine Mutation Amino Acids
View on PubMed DOI

Performance of Machine Learning in Diagnosing KRAS (Kirsten Rat Sarcoma) Mutations in Colorectal Cancer: Systematic Review and Meta-Analysis.

Journal of medical Internet research Jul 18, 2025
BACKGROUND: With the widespread application of machine learning (ML) in the diagnosis and treatment of colorectal cancer (CRC), some studies have investigated the use of ML techniques for the diagnosis of KRAS (Kirsten rat sarcoma) mutation. Neverthe...
Humans Machine Learning Colorectal Neoplasms Mutation Proto-Oncogene Proteins p21(ras)
View on PubMed DOI

Prediction of pathogenic mutations in human transmembrane proteins and their associated diseases via utilizing pre-trained Bio-LLMs.

Communications biology Jul 15, 2025
Missense mutations can disrupt the structure and function of membrane proteins, potentially impairing key biological processes and leading to various human diseases. However, existing computational methods primarily focus on binary pathogenicity clas...
Mutation Mutation, Missense Deep Learning Computational Biology Membrane Proteins Humans
View on PubMed DOI

Predicting the molecular subtypes of 2021 WHO grade 4 glioma by a multiparametric MRI-based machine learning model.

BMC cancer Jul 14, 2025
BACKGROUND: Accurately distinguishing the different molecular subtypes of 2021 World Health Organization (WHO) grade 4 Central Nervous System (CNS) gliomas is highly relevant for prognostic stratification and personalized treatment.
Isocitrate Dehydrogenase Humans Multiparametric Magnetic Resonance Imaging Machine Learning Middle Aged Aged ROC Curve Magnetic Resonance Imaging Mutation Brain Neoplasms Glioma Prognosis Neoplasm Grading Adult World Health Organization Male Retrospective Studies Female
View on PubMed DOI

Tuning antibody stability and function by rational designs of framework mutations.

mAbs Jul 13, 2025
Artificial intelligence and machine learning models have been developed to engineer antibodies for specific recognition of antigens. These approaches, however, often focus on the antibody complementarity-determining region (CDR) whilst ignoring the i...
Humans Mutation Molecular Dynamics Simulation Protein Engineering Protein Stability Complementarity Determining Regions Receptor, ErbB-2 Trastuzumab
View on PubMed DOI

A comprehensive analysis of transcription factors identified TCF3 as a prognostic target for glioma.

Scientific reports Jul 13, 2025
Transcription factors (TFs) are pivotal in tumor initiation and progression, regulating downstream gene expression and modulating cellular processes. In this study, we conducted a comprehensive analysis of TF gene sets to define the molecular subtype...
Transcription Factors Humans Protein Interaction Maps Glioma Prognosis Biomarkers, Tumor Gene Regulatory Networks Basic Helix-Loop-Helix Transcription Factors Basic Helix-Loop-Helix Leucine Zipper Transcription Factors Brain Neoplasms Gene Expression Regulation, Neoplastic Mutation Gene Expression Profiling
View on PubMed DOI

Non-invasive identification of TKI-resistant NSCLC: a multi-model AI approach for predicting EGFR/TP53 co-mutations.

BMC pulmonary medicine Jul 10, 2025
OBJECTIVES: To investigate the value of multi-model based on preoperative CT scans in predicting EGFR/TP53 co-mutation status.
Protein Kinase Inhibitors Drug Resistance, Neoplasm Tumor Suppressor Protein p53 ErbB Receptors Male Middle Aged Deep Learning Carcinoma, Non-Small-Cell Lung Female Humans China Mutation Aged Lung Neoplasms Retrospective Studies Adult Tomography, X-Ray Computed
View on PubMed DOI
Popular Topics
Recent Journals