AIMC Topic: Mutation, Missense

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Computational and artificial neural network based study of functional SNPs of human LEPR protein associated with reproductive function.

Journal of cellular biochemistry Jun 25, 2019
Genetic polymorphisms are mostly associated with inherited diseases, detecting and analyzing the biological significance of functional single-nucleotide polymorphisms (SNPs) using wet laboratory experiments is an arduous task hence the computational ...
Humans Amino Acid Substitution Mutation, Missense Receptors, Leptin Infertility Neural Networks, Computer Molecular Docking Simulation Polymorphism, Single Nucleotide Protein Domains
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Deleterious Non-Synonymous Single Nucleotide Polymorphism Predictions on Human Transcription Factors.

IEEE/ACM transactions on computational biology and bioinformatics Nov 21, 2018
Transcription factors (TFs) are the major components of human gene regulation. In particular, they bind onto specific DNA sequences and regulate neighborhood genes in different tissues at different developmental stages. Non-synonymous single nucleoti...
Transcription Factors Data Mining Mutation, Missense Machine Learning Algorithms Polymorphism, Single Nucleotide Computational Biology Humans
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An in-silico method for identifying aggregation rate enhancer and mitigator mutations in proteins.

International journal of biological macromolecules Jun 24, 2018
Newly synthesized polypeptides must pass stringent quality controls in cells to ensure appropriate folding and function. However, mutations, environmental stresses and aging can reduce efficiencies of these controls, leading to accumulation of protei...
Algorithms Support Vector Machine Proteins Amino Acid Substitution Mutation, Missense Protein Structure, Secondary
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Gene-Specific Variant Classifier (DPYD-Varifier) to Identify Deleterious Alleles of Dihydropyrimidine Dehydrogenase.

Clinical pharmacology and therapeutics Feb 2, 2018
Deleterious variants in dihydropyrimidine dehydrogenase (DPD, DPYD gene) can be highly predictive of clinical toxicity to the widely prescribed chemotherapeutic 5-fluorouracil (5-FU). However, there are very limited data pertaining to the functional ...
Computer Simulation Risk Assessment Pharmacogenetics Genotype Humans Machine Learning Models, Molecular Fluorouracil Inhibitory Concentration 50 HCT116 Cells Dose-Response Relationship, Drug Cell Survival Predictive Value of Tests Structure-Activity Relationship Pharmacogenomic Variants Antimetabolites, Antineoplastic Mutation, Missense HEK293 Cells Dihydrouracil Dehydrogenase (NADP) Gene Frequency Pharmacogenomic Testing Protein Conformation
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Association Between Genotypes and Risk of Cardiovascular Disease in MESA (Multi-Ethnic Study of Atherosclerosis).

Journal of the American Heart Association Dec 21, 2017
BACKGROUND: genetic variants confer an increased risk for kidney disease. Their associations with cardiovascular disease (CVD) are less certain. We aimed to compare the prevalence of subclinical CVD and incidence of atherosclerotic CVD and heart fai...
DNA Mutational Analysis Aged Apolipoprotein L1 Cardiovascular Diseases Humans Aged, 80 and over Genotype Mutation, Missense Middle Aged Cross-Sectional Studies DNA Female Prevalence Male Atherosclerosis Risk Factors Ethnicity Incidence
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Applying an artificial neural network model for developing a severity score for patients with hereditary amyloid polyneuropathy.

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis Jul 18, 2017
Hereditary (familial) amyloid polyneuropathy (FAP) is a systemic disease that includes a sensorimotor polyneuropathy related to transthyretin (TTR) mutations. So far, a scale designed to classify the severity of this disease has not yet been validate...
Amyloid Neuropathies, Familial Neural Networks, Computer Female Male Severity of Illness Index Models, Biological Prealbumin Amino Acid Substitution Humans Mutation, Missense
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Machine learning classifier for identification of damaging missense mutations exclusive to human mitochondrial DNA-encoded polypeptides.

BMC bioinformatics Mar 7, 2017
BACKGROUND: Several methods have been developed to predict the pathogenicity of missense mutations but none has been specifically designed for classification of variants in mtDNA-encoded polypeptides. Moreover, there is not available curated dataset ...
Mitochondria DNA Mutational Analysis Mutation, Missense Peptides Computational Biology DNA, Mitochondrial Humans Machine Learning Sensitivity and Specificity
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Discrimination of driver and passenger mutations in epidermal growth factor receptor in cancer.

Mutation research Jul 20, 2015
Cancer is one of the most life-threatening diseases and mutations in several genes are the vital cause in tumorigenesis. Protein kinases play essential roles in cancer progression and specifically, epidermal growth factor receptor (EGFR) is an import...
Polymorphism, Single Nucleotide Models, Genetic Support Vector Machine ErbB Receptors Mutation, Missense Humans Neoplasms
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MIMP: predicting the impact of mutations on kinase-substrate phosphorylation.

Nature methods May 4, 2015
Protein phosphorylation is important in cellular pathways and altered in disease. We developed MIMP (http://mimp.baderlab.org/), a machine learning method to predict the impact of missense single-nucleotide variants (SNVs) on kinase-substrate interac...
Artificial Intelligence Software Polymorphism, Single Nucleotide Mutation, Missense Signal Transduction Phosphotransferases Phosphorylation Amino Acid Sequence Substrate Specificity
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RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

Science (New York, N.Y.) Dec 18, 2014
To facilitate precision medicine and whole-genome annotation, we developed a machine-learning technique that scores how strongly genetic variants affect RNA splicing, whose alteration contributes to many diseases. Analysis of more than 650,000 intron...
Muscular Atrophy, Spinal Humans Artificial Intelligence Exons Computer Simulation Genetic Code Polymorphism, Single Nucleotide Adaptor Proteins, Signal Transducing Genome-Wide Association Study MutL Protein Homolog 1 RNA-Binding Proteins Quantitative Trait Loci RNA Splice Sites DNA Molecular Sequence Annotation Models, Genetic RNA Splicing Introns Genetic Markers Nuclear Proteins Child Development Disorders, Pervasive Mutation, Missense Genetic Variation Colorectal Neoplasms, Hereditary Nonpolyposis
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