AIMC Topic: Copper-Transporting ATPases

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WilsonGenAI a deep learning approach to classify pathogenic variants in Wilson Disease.

PloS one May 17, 2024
BACKGROUND: Advances in Next Generation Sequencing have made rapid variant discovery and detection widely accessible. To facilitate a better understanding of the nature of these variants, American College of Medical Genetics and Genomics and the Asso...
Algorithms Deep Learning Humans Copper-Transporting ATPases Hepatolenticular Degeneration High-Throughput Nucleotide Sequencing Genetic Variation
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Diagnosis of Wilson Disease and Its Phenotypes by Using Artificial Intelligence.

Biomolecules Aug 20, 2021
WD is caused by variants disrupting copper efflux resulting in excessive copper accumulation mainly in liver and brain. The diagnosis of WD is challenged by its variable clinical course, onset, morbidity, and variant type. Currently it is diagnosed...
Ceruloplasmin Hepatolenticular Degeneration Medical Informatics Copper-Transporting ATPases Glutamic Acid Mutation DNA, Mitochondrial Copper Phenotype Female Brain Artificial Intelligence Algorithms Neural Networks, Computer Fuzzy Logic Diagnosis, Computer-Assisted Humans Principal Component Analysis Male Liver Adult Middle Aged
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Wilson's disease: A new perspective review on its genetics, diagnosis and treatment.

Frontiers in bioscience (Elite edition) Jun 1, 2019
Wilson's disease (WD) is an autosomal recessive disorder which is caused by poor excretion of copper in mammalian cells. In this review, various issues such as effective characterization of ATP7B genes, scope of gene network topology in genetic analy...
Humans Deep Learning Hepatolenticular Degeneration Copper-Transporting ATPases
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Molecular characterization, immunocorrelation analysis, WGCNA analysis and machine learning modeling of genes associated with copper death subtypes of laryngeal cancer.

Technology and health care : official journal of the European Society for Engineering and Medicine Jan 1, 2024
BACKGROUND: Laryngeal cancer is a malignant tumor that originates from the mucous membrane of the larynx. Currently, the specific involvement mechanism of copper death in laryngeal cancer patients has not been deeply studied.
Humans Gene Expression Profiling Transcriptome Prognosis Machine Learning Copper-Transporting ATPases HSP47 Heat-Shock Proteins Copper Transporter 1 Copper Laryngeal Neoplasms Gene Expression Regulation, Neoplastic
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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : the journal of biological databases and curation Jan 1, 2019
Personalized genomic medicine depends on integrated analyses that combine genetic and phenotypic data from individual patients with reference knowledge of the functional and clinical significance of sequence variants. Sources of this reference knowle...
Knowledge Bases Copper-Transporting ATPases Genetic Variation Zinc Finger Protein Gli3 Databases, Protein Workflow Nerve Tissue Proteins
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