Mutation - Page 12

Reaction-kinetic parameters of glycidamide as determinants of mutagenic potency

Kinetics / Environmental Biotechnology / Cell line / Mutation / Animals / Reaction Rate / Reaction Kinetics / Mutagens / Gamma radiation / Reaction Rate / Reaction Kinetics / Mutagens / Gamma radiation

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Burkholderia cenocepacia O antigen lipopolysaccharide prevents phagocytosis by macrophages and adhesion to epithelial cells

Medical Microbiology / Macrophages / Biological Sciences / Cell line / Mutation / Mice / Animals / Lung / Phagocytosis / Epithelial cells / Burkholderia / Bacterial Adhesion / Mice / Animals / Lung / Phagocytosis / Epithelial cells / Burkholderia / Bacterial Adhesion

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A bacterial ecto-triphosphate diphosphohydrolase similar to human CD39 is essential for intracellular multiplication of Legionella pneumophila

Microbiology / Computational Biology / Medical Microbiology / Cellular microbiology / Cell line / Cellular / Humans / Platelet aggregation / Mutation / Legionella pneumophila / Animals / Epithelial cells / Monocytes / Amino Acid Sequence / Virulence Factors / Recombinant Proteins / Cellular / Humans / Platelet aggregation / Mutation / Legionella pneumophila / Animals / Epithelial cells / Monocytes / Amino Acid Sequence / Virulence Factors / Recombinant Proteins

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Transgenic complementation of MeCP2 deficiency: phenotypic rescue of Mecp2-null mice by isoform-specific transgenes

Genetics / Animal Behavior / Gene expression / Longevity / Mutation / Mice / Animals / Male / Cytomegalovirus / Alternative splicing / Neurons / Phenotype / European / Rett syndrome / Mouse Model / Age Factors / X chromosome / Alternative Splicing / Protein isoforms / Protein Binding / Transgene Expression / Weight Gain / Mice / Animals / Male / Cytomegalovirus / Alternative splicing / Neurons / Phenotype / European / Rett syndrome / Mouse Model / Age Factors / X chromosome / Alternative Splicing / Protein isoforms / Protein Binding / Transgene Expression / Weight Gain

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Mitochondrial deoxyribonucleoside triphosphate pools in thymidine kinase 2 deficiency

Mitochondria / Mitochondrial DNA / Humans / Mutation / Cytochrome c oxidase / Biochemical / Cell nucleus / Thymidine Kinase / Human Fibroblasts / Biochemistry and cell biology / Biochemical / Cell nucleus / Thymidine Kinase / Human Fibroblasts / Biochemistry and cell biology

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GATA2 deficiency

Immunology / Hematopoiesis / Humans / Mutation / Animals / Infection / Bone Marrow Transplantation / Infection / Bone Marrow Transplantation

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Sigma nonopioid intracellular receptor 1 mutations cause frontotemporal lobar degeneration-motor neuron disease

Brain / Humans / Mutation / Female / Male / Pedigree / Clinical Sciences / Haloperidol / Aged / Middle Aged / Annals / Lymphocytes / DNA binding proteins / Neurosciences / Opipramol / Pedigree / Clinical Sciences / Haloperidol / Aged / Middle Aged / Annals / Lymphocytes / DNA binding proteins / Neurosciences / Opipramol

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RNA recognition by designed peptide fusion creates \"artificial\" tRNA synthetase

RNA / Kinetics / Multidisciplinary / Mutation / Escherichia coli / Peptides / Active site / Time Factors / Amino Acid Profile / Amino Acid Sequence / Base Sequence / Protein Binding / aminoacyl-tRNA synthetase / Genetic Code / Nucleic Acid Conformation / Peptides / Active site / Time Factors / Amino Acid Profile / Amino Acid Sequence / Base Sequence / Protein Binding / aminoacyl-tRNA synthetase / Genetic Code / Nucleic Acid Conformation

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Epidermal growth factor receptor gene expression in high grade gliomas

Psychology / Immunohistochemistry / Comparative Study / Molecular endocrinology / Gene expression / Cell Culture / Cell Division / Estrogen Receptor / Biological Sciences / Molecular / Cell line / Molecular and cellular biology / Humans / Mutation / Glioma / Birds / Female / Animals / Blood / Nucleic acid hybridization / Renal cell Carcinoma / Male / Aneuploidy / Parathyroid Hormone / Clinical Sciences / Aged / Middle Aged / Fluorescent Antibody Technique / Epidermal Growth Factor / Epidermal Growth Factor Receptor / Adult / Time Factors / Urological Cancer / Cell Proliferation / Neurosciences / Folia / Brain Neoplasms / Growth Plate / Adenocarcinoma / Breast Cancer Cells / Gene expression profiling / Atrial Natriuretic Factor / Cell Culture / Cell Division / Estrogen Receptor / Biological Sciences / Molecular / Cell line / Molecular and cellular biology / Humans / Mutation / Glioma / Birds / Female / Animals / Blood / Nucleic acid hybridization / Renal cell Carcinoma / Male / Aneuploidy / Parathyroid Hormone / Clinical Sciences / Aged / Middle Aged / Fluorescent Antibody Technique / Epidermal Growth Factor / Epidermal Growth Factor Receptor / Adult / Time Factors / Urological Cancer / Cell Proliferation / Neurosciences / Folia / Brain Neoplasms / Growth Plate / Adenocarcinoma / Breast Cancer Cells / Gene expression profiling / Atrial Natriuretic Factor

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Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency

Mitochondria / Humans / Fatty acids / Mutation / Male / Fatty Acid Oxidation / Phenotype / Enzyme / Clinical Sciences / L-carnitine / Spectrum / Prognosis / Multienzyme complexes / Cardiomyopathies / Human Fibroblasts / Clinical Presentation / Rhabdomyolysis / Fatty Acid Oxidation / Phenotype / Enzyme / Clinical Sciences / L-carnitine / Spectrum / Prognosis / Multienzyme complexes / Cardiomyopathies / Human Fibroblasts / Clinical Presentation / Rhabdomyolysis

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Exon-skipping antisense oligonucleotides to correct missplicing in neurogenetic diseases

Humans / Mutation / Blood brain barrier / Animals / Drug Delivery Systems / Duchenne Muscular Dystrophy / Frontotemporal Dementia / Nervous System Diseases / Ataxia Telangiectasia / Duchenne Muscular Dystrophy / Frontotemporal Dementia / Nervous System Diseases / Ataxia Telangiectasia

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Deficiency in TNFRSF13B (TACI) expands T-follicular helper and germinal center B cells via increased ICOS-ligand expression but impairs plasma cell survival

Flow Cytometry / Autoimmunity / Multidisciplinary / Humans / Mutation / Mice / Animals / Immune system / B Lymphocytes / Ligands / Germinal Center / Gene Expression Regulation / Mice / Animals / Immune system / B Lymphocytes / Ligands / Germinal Center / Gene Expression Regulation

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Mutator phenotype of mammalian cells due to deficiency of NEIL1 DNA glycosylase, an oxidized base-specific repair enzyme

DNA replication / DNA damage / DNA repair / Cell line / Humans / Mutation / Animals / Phenotype / Enzyme / Functional integration / Specific Activity / Oxidative Damage / Antisense Oligonucleotide Drugs / Base Sequence / Oxidation-Reduction / Biochemistry and cell biology / Mutation / Animals / Phenotype / Enzyme / Functional integration / Specific Activity / Oxidative Damage / Antisense Oligonucleotide Drugs / Base Sequence / Oxidation-Reduction / Biochemistry and cell biology

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Papillary serous carcinoma in situ in ovarian endometriosis in an MSH2 mutation carrier

Ovarian Cancer / Humans / Mutation / Female / Gynecology and Obstetrics / Hysterectomy / Middle Aged / Lynch syndrome / Hereditary nonpolyposis colorectal cancer / Endometriosis / Ovariectomy / Hysterectomy / Middle Aged / Lynch syndrome / Hereditary nonpolyposis colorectal cancer / Endometriosis / Ovariectomy

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Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization

Genetics / Electron Microscopy / Membrane Proteins / Mitochondria / Tomography / Mitochondrial DNA / Humans / Mutation / Female / Male / ATP synthase / Mitochondrial Respiratory Chain / Newborn Infant / Mitochondrial Diseases / Adult / Cardiomyopathies / Human Fibroblasts / Mitochondrial DNA / Humans / Mutation / Female / Male / ATP synthase / Mitochondrial Respiratory Chain / Newborn Infant / Mitochondrial Diseases / Adult / Cardiomyopathies / Human Fibroblasts

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EphB receptor activity suppresses colorectal cancer progression

Pharmacology / Biochemistry / Bioinformatics / Evolutionary Biology / Genetics / Marine Biology / Neuroscience / Environmental Science / Geophysics / Physics / Materials Science / Quantum Physics / Developmental Biology / Immunology / Climate Change / Molecular Biology / Structural Biology / Genomics / RNA / Computational Biology / Transcriptomics / Biotechnology / Systems Biology / Cancer / Biology / Metabolomics / Cell Cycle / Proteomics / Ecology / Drug Discovery / Evolution / Nanotechnology / Astrophysics / Neurobiology / Medicine / Multidisciplinary / Palaeobiology / Functional Genomics / Nature / Colorectal cancer / Signal Transduction / Astronomy / DNA / Humans / Mutation / Mice / Animals / Cell Signalling / Medical Research / Disease Progression / Adenoma / Earth Science / Down-Regulation / Marine Biology / Neuroscience / Environmental Science / Geophysics / Physics / Materials Science / Quantum Physics / Developmental Biology / Immunology / Climate Change / Molecular Biology / Structural Biology / Genomics / RNA / Computational Biology / Transcriptomics / Biotechnology / Systems Biology / Cancer / Biology / Metabolomics / Cell Cycle / Proteomics / Ecology / Drug Discovery / Evolution / Nanotechnology / Astrophysics / Neurobiology / Medicine / Multidisciplinary / Palaeobiology / Functional Genomics / Nature / Colorectal cancer / Signal Transduction / Astronomy / DNA / Humans / Mutation / Mice / Animals / Cell Signalling / Medical Research / Disease Progression / Adenoma / Earth Science / Down-Regulation

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