Mutation

Resistência do Mycobacterium tuberculosis à isoniazida por mutações em duas regiões diferentes do gene katG

Tuberculosis / Mycobacterium tuberculosis / Mutation / Multidrug Resistance / Drug Resistance / Catalase / Codon / Isoniazid / Catalase / Codon / Isoniazid

Does mitochondrial DNA predispose to neuromyelitis optica (Devic\'s disease)?

Brain / Mitochondrial DNA / Humans / Mutation / Haplotypes / Female / Male / Neuromyelitis Optica / Female / Male / Neuromyelitis Optica

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data

Biological Sciences / Software / Cell line / Environmental Sciences / Single cell analysis / Humans / Sequence alignment / Mutation / Female / Nucleic Acids / Genetic variation / Exome / Gene expression profiling / Humans / Sequence alignment / Mutation / Female / Nucleic Acids / Genetic variation / Exome / Gene expression profiling

Stem cells in melanoma development

Adult Stem Cells / Humans / Mutation / Melanoma / Animals / Melanocytes / Skin Neoplasms / Melanocytes / Skin Neoplasms

microphthalmia, a critical factor in melanocyte development, defines a discrete transcription factor family

Transcription Factors / Biological Sciences / Mutation / Mice / Animals / Alternative splicing / Transcription Factor / Genes / Alternative Splicing / Melanocytes / Base Sequence / DNA binding proteins / Gene Expression Regulation / Alternative splicing / Transcription Factor / Genes / Alternative Splicing / Melanocytes / Base Sequence / DNA binding proteins / Gene Expression Regulation

Protein Export by the Mycobacterial SecA2 System Is Determined by the Preprotein Mature Domain

Bacteriology / Biological Sciences / Virulence / Mutagenesis / Mutation / Plasmids / Membrane transport proteins / Lipoproteins / Amino Acid Sequence / Protein Transport / Plasmids / Membrane transport proteins / Lipoproteins / Amino Acid Sequence / Protein Transport

Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis

Genetics / Molecular Genetics / Mitochondrial DNA / Humans / African American / Liver / Mutation / Female / Phenotype / Hemochromatosis / Clinical Sciences / Newborn Infant / Autopsy / Liver Failure / Liver / Mutation / Female / Phenotype / Hemochromatosis / Clinical Sciences / Newborn Infant / Autopsy / Liver Failure

CELLULAR RESPONSES TO DNA DAMAGE

Engineering / Pharmacology / Environmental Health / Radiation Biology / Cell Cycle / DNA damage / DNA repair / Apoptosis / Signal Transduction / Biological Sciences / DNA / Environmental Sciences / Humans / Mutagenesis / Mutation / Escherichia coli / Animals / Cell Death / Pharmacology and toxicology / Fission yeast / Nucleotide Excision Repair / Public health systems and services research / DNA damage response / UV light / Genomic instability / Cell cycle checkpoints / Veterinary Sciences / Ionizing Radiation / Cell Survival / Mutagens / Base Excision Repair / Biochemistry and cell biology / DNA damage / DNA repair / Apoptosis / Signal Transduction / Biological Sciences / DNA / Environmental Sciences / Humans / Mutagenesis / Mutation / Escherichia coli / Animals / Cell Death / Pharmacology and toxicology / Fission yeast / Nucleotide Excision Repair / Public health systems and services research / DNA damage response / UV light / Genomic instability / Cell cycle checkpoints / Veterinary Sciences / Ionizing Radiation / Cell Survival / Mutagens / Base Excision Repair / Biochemistry and cell biology

A Striking Quality Control Subcompartment in Saccharomyces cerevisiae: The Endoplasmic Reticulum-associated Compartment

Electron Microscopy / Molecular Biology / Protein Folding / Quality Control / Biological Sciences / Saccharomyces cerevisiae / Mutation / Secretory Pathway / Unfolded Protein Response / Endoplasmic Reticulum / Glycoproteins / Membrane Protein / Protein Transport / Saccharomyces cerevisiae / Mutation / Secretory Pathway / Unfolded Protein Response / Endoplasmic Reticulum / Glycoproteins / Membrane Protein / Protein Transport

Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations

Confocal Microscopy / Biological Sciences / DNA / Humans / Mutation / Human Molecular Genetics / Endoplasmic Reticulum / Fluorescent Antibody Technique / Active site / Amino Acid Profile / Transfection / Protein Conformation / Amino Acid Sequence / Body of Knowledge / Human Fibroblasts / Lysosomes / Ligands / Lysosomal Storage Diseases / Human Molecular Genetics / Endoplasmic Reticulum / Fluorescent Antibody Technique / Active site / Amino Acid Profile / Transfection / Protein Conformation / Amino Acid Sequence / Body of Knowledge / Human Fibroblasts / Lysosomes / Ligands / Lysosomal Storage Diseases

Ecological Temporal Stability of Staphylococcus aureus Nasal Carriage

Biodiversity / Clinical Microbiology / Biological Sciences / Humans / Mutation / Male / Staphylococcus aureus / DNA fingerprinting / Genotype / Adult / Nasal Mucosa / Male / Staphylococcus aureus / DNA fingerprinting / Genotype / Adult / Nasal Mucosa

O-GlcNAc Transferase Catalyzes Site-Specific Proteolysis of HCF-1

Cell Cycle / Biological Sciences / Humans / Sequence alignment / Mutation / Cell / Glycosylation / Amino Acid Sequence / Cell / Glycosylation / Amino Acid Sequence

Premature ageing in mice expressing defective mitochondrial DNA polymerase

Mitochondria / Multidisciplinary / Nature / Biological Sciences / Adipose tissue / Mitochondrial DNA / Mutagenesis / Mutation / Mice / Weight Loss / Animals / Body Composition / Bone Density / Mitochondrial Respiratory Chain / Phenotype / ALOPECIA / Skeletal Muscle / Body Weight / Kyphosis / Mitochondrial DNA / Mutagenesis / Mutation / Mice / Weight Loss / Animals / Body Composition / Bone Density / Mitochondrial Respiratory Chain / Phenotype / ALOPECIA / Skeletal Muscle / Body Weight / Kyphosis

Ciliary Polycystin-2 Is a Mechanosensitive Calcium Channel Involved in Nitric Oxide Signaling Cascades

RNA interference / Cellular mechanotransduction / Humans / Hypertension / Endothelial Cells / Mutation / Mice / Blood Pressure / Nitric oxide / Animals / Calcium Signaling / Calcium Channel / Clinical Sciences / Time Factors / Calmodulin / Circulation / Cilia / Mutation / Mice / Blood Pressure / Nitric oxide / Animals / Calcium Signaling / Calcium Channel / Clinical Sciences / Time Factors / Calmodulin / Circulation / Cilia

Human cystic fibrosis embryonic stem cell lines derived on placental mesenchymal stromal cells

Genetics / Tissue Engineering / Cystic Fibrosis / Induced Pluripotent Stem Cells (I Psc) / Human embryonic stem cell / Stem Cell / Cell line / Cell Differentiation / Humans / Genetic Testing / Mutation / Placenta / Female / Embryonic Stem Cell / Plant tissue Culture Techniques / Polymerase Chain Reaction / Drug Screening / Karyotyping / Embryonic Stem Cells / Stromal Cells / Mesenchymal Stromal Cells / Gene expression profiling / Stem Cell / Cell line / Cell Differentiation / Humans / Genetic Testing / Mutation / Placenta / Female / Embryonic Stem Cell / Plant tissue Culture Techniques / Polymerase Chain Reaction / Drug Screening / Karyotyping / Embryonic Stem Cells / Stromal Cells / Mesenchymal Stromal Cells / Gene expression profiling

Colorectal cancer stem cells

Cell Division / Humans / Mutation / Clinical Sciences / Disease Progression

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