Mutation - Page 3

Arabidopsis PPR40 Connects Abiotic Stress Responses to Mitochondrial Electron Transport

Oxidative Stress / Mitochondria / Abiotic Stress / Biological Sciences / Plant Physiology / Mutation / Plant / Electron Transport / Arabidopsis / Amino Acid Sequence / Mutation / Plant / Electron Transport / Arabidopsis / Amino Acid Sequence

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Mitokondrium, oxidatív stressz és öregedés

Free Radicals / Aging / Oxidative Stress / Mitochondria / DNA damage / Free Radical / Biological Sciences / Antioxidants / Mitochondrial DNA / Humans / Mutation / Reactive Oxygen Species / Mice / Animals / CHEMICAL SCIENCES / Age Factors / Free Radical / Biological Sciences / Antioxidants / Mitochondrial DNA / Humans / Mutation / Reactive Oxygen Species / Mice / Animals / CHEMICAL SCIENCES / Age Factors

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CD36 is a sensor of diacylglycerides

Aging / Multidisciplinary / Nature / Signal Transduction / Toll like receptor signaling / Toll Like Receptors / Cell line / Humans / Mutagenesis / Mutation / Mice / Animals / Staphylococcus aureus / Phenotype / Tumor necrosis factor-alpha / Peptidoglycan / Lipopeptides / Dimerization / Toll Like Receptors / Cell line / Humans / Mutagenesis / Mutation / Mice / Animals / Staphylococcus aureus / Phenotype / Tumor necrosis factor-alpha / Peptidoglycan / Lipopeptides / Dimerization

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Induced Pluripotent Stem Cell Models of Progranulin-Deficient Frontotemporal Dementia Uncover Specific Reversible Neuronal Defects

Cell line / Humans / Mutation / Microglia / Neurons / Haploinsufficiency / Frontotemporal Dementia / Induced Pluripotent Stem Cells / Staurosporine / Protein Kinase Inhibitors / Down-Regulation / Haploinsufficiency / Frontotemporal Dementia / Induced Pluripotent Stem Cells / Staurosporine / Protein Kinase Inhibitors / Down-Regulation

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The AAA ATPase p97 links peptide N-glycanase to the endoplasmic reticulum-associated E3 ligase autocrine motility factor receptor

Multidisciplinary / Cercopithecus aethiops / Sequence alignment / Mutation / Mice / Animals / Endoplasmic Reticulum / P-glycoprotein / Amino Acid Sequence / Protein Quaternary Structure / Protein Binding / Animals / Endoplasmic Reticulum / P-glycoprotein / Amino Acid Sequence / Protein Quaternary Structure / Protein Binding

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Structural comparisons of class I phosphoinositide 3-kinases

Mutation / Enzyme / Isoenzymes / Neoplasms / Enzymatic Activity / Cell Growth

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Comprehensive molecular profiling of lung adenocarcinoma

Genomics / Multidisciplinary / Nature / Transcriptome / Molecular typing / Humans / Mutation / Female / Male / Gene Dosage / Oncogenes / Sex Factors / Cell Cycle Proteins / Adenocarcinoma / Humans / Mutation / Female / Male / Gene Dosage / Oncogenes / Sex Factors / Cell Cycle Proteins / Adenocarcinoma

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Familial hypercholesterolemia in Brazil: Cascade screening program, clinical and genetic aspects

Lebanon / Atherosclerosis / Brazil / Humans / Genetic Testing / Mutation / Female / Male / Body Mass Index / Clinical Sciences / Aged / Middle Aged / Adult / Predictive value of tests / Mutation / Female / Male / Body Mass Index / Clinical Sciences / Aged / Middle Aged / Adult / Predictive value of tests

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Comprehensive molecular profiling of lung adenocarcinoma

Genomics / Multidisciplinary / Nature / Transcriptome / Molecular typing / Humans / Mutation / Female / Male / Gene Dosage / Oncogenes / Sex Factors / Cell Cycle Proteins / Adenocarcinoma / Humans / Mutation / Female / Male / Gene Dosage / Oncogenes / Sex Factors / Cell Cycle Proteins / Adenocarcinoma

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Resveratrol, a natural phenolic compound, inhibits cell proliferation and prevents oxidative DNA damage

Genetic Toxicology / Flow Cytometry / Cell Cycle / Prostate Cancer / DNA damage / Apoptosis / Environmental Biotechnology / Cell Division / Cell line / Humans / Mutation / Reactive Oxygen Species / Mice / Female / Animals / Breast / Nucleosomes / nuclear DNA / Comet Assay / Phenolic compound / Rats / Stilbenes / Cell Proliferation / Tobacco Smoke / Oxidative Dna Damage / Human Fibroblasts / Oxidation-Reduction / Cell Growth / Apoptosis / Environmental Biotechnology / Cell Division / Cell line / Humans / Mutation / Reactive Oxygen Species / Mice / Female / Animals / Breast / Nucleosomes / nuclear DNA / Comet Assay / Phenolic compound / Rats / Stilbenes / Cell Proliferation / Tobacco Smoke / Oxidative Dna Damage / Human Fibroblasts / Oxidation-Reduction / Cell Growth

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Atypical, slowly progressive behavioural variant frontotemporal dementia associated with C9ORF72 hexanucleotide expansion

Neurology / Amyotrophic Lateral Sclerosis / Brain Mapping / Humans / Mutation / Female / Male / Proteins / Middle Aged / Frontotemporal Dementia / Alzheimer Disease / Female / Male / Proteins / Middle Aged / Frontotemporal Dementia / Alzheimer Disease

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Induced Pluripotent Stem Cell Models of Progranulin-Deficient Frontotemporal Dementia Uncover Specific Reversible Neuronal Defects

Cell line / Humans / Mutation / Microglia / Neurons / Haploinsufficiency / Frontotemporal Dementia / Induced Pluripotent Stem Cells / Staurosporine / Protein Kinase Inhibitors / Down-Regulation / Haploinsufficiency / Frontotemporal Dementia / Induced Pluripotent Stem Cells / Staurosporine / Protein Kinase Inhibitors / Down-Regulation

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Extrachromosomal inheritance inSchizosaccharomyces pombe

Genetics / Mitosis / Mitochondrial DNA / Mutation / Drug Resistance / Microbial genetic and drug resistance / Electron Transport / Phenotype / Genes / Schizosaccharomyces Pombe / Anti-Bacterial Agents / Genotype / Genetic Recombination / Erythromycin / Ascomycota / Cytoplasm / Diploidy / Chloramphenicol / Microbial genetic and drug resistance / Electron Transport / Phenotype / Genes / Schizosaccharomyces Pombe / Anti-Bacterial Agents / Genotype / Genetic Recombination / Erythromycin / Ascomycota / Cytoplasm / Diploidy / Chloramphenicol

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A filamentous phage display system for N-linked glycoproteins

Protein Science / Protein / Polysaccharides / Mutation / Escherichia coli / P-glycoprotein / Phage display / Plasmids / Glycoproteins / Glycosylation / Glycosyltransferases / Asparagine / Campylobacter jejuni / Biochemistry and cell biology / Oligosaccharides / P-glycoprotein / Phage display / Plasmids / Glycoproteins / Glycosylation / Glycosyltransferases / Asparagine / Campylobacter jejuni / Biochemistry and cell biology / Oligosaccharides

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Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome: Time to Review Diagnostic Criteria?

Endocrinology / Immunology / Autoimmunity / Adolescent / Transcription Factors / Innate immunity / Multidisciplinary / Disease susceptibility / Signal Transduction / Visual acuity / Italy / Mental Retardation / Clinical immunology / Gene Mapping / Humans / Child / Mutation / Sicily / Female / Male / Genetic Association Studies / Young Adult / Zinc / Clinical Sciences / Eye / IL / Electrocardiogram / Adult / Hormone / Prognosis / Interleukins / Antifungal Agents / CHRONIC MUCOCUTANEOUS CANDIDIASIS / Genetic Analysis / Autosomal Recessive / Case History / Autoantibodies / Interleukin / Thyroid Function / Diagnostic Criteria / Innate immunity / Multidisciplinary / Disease susceptibility / Signal Transduction / Visual acuity / Italy / Mental Retardation / Clinical immunology / Gene Mapping / Humans / Child / Mutation / Sicily / Female / Male / Genetic Association Studies / Young Adult / Zinc / Clinical Sciences / Eye / IL / Electrocardiogram / Adult / Hormone / Prognosis / Interleukins / Antifungal Agents / CHRONIC MUCOCUTANEOUS CANDIDIASIS / Genetic Analysis / Autosomal Recessive / Case History / Autoantibodies / Interleukin / Thyroid Function / Diagnostic Criteria

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Doença granulomatosa crônica autossômica: relato de caso a análise genético-molecular de dois irmãos brasileiros

Polymorphism / Heredity / Genetic counseling / Case Report / Humans / Child / Mutation / Primary Immunodeficiency / Female / Infection / Pneumonia / Male / DNA analysis / Pedigree / NADPH oxidase / Anions / Base Sequence / Clinical Signs / Electrophoretic Mobility / Child / Mutation / Primary Immunodeficiency / Female / Infection / Pneumonia / Male / DNA analysis / Pedigree / NADPH oxidase / Anions / Base Sequence / Clinical Signs / Electrophoretic Mobility

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