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Mutation
Mutation
Gene defect in ectodermal dysplasia implicates a death domain adapter in development
Membrane Proteins / Gene expression / Multidisciplinary / Nature / Signal Transduction / Cell line / Humans / Mutation / Mice / Animals / NF-kappa B / Amino Acid Sequence / Protein Binding / Ectodermal Dysplasia / Death Domain / Molecular Sequence Data / Cell line / Humans / Mutation / Mice / Animals / NF-kappa B / Amino Acid Sequence / Protein Binding / Ectodermal Dysplasia / Death Domain / Molecular Sequence Data
Gag-Pol bearing a reverse transcriptase drug-resistant mutation influences viral genomic RNA incorporation into human immunodeficiency virus type 1 particles
Microbiology / Genomics / Virology / HIV / Biological Sciences / Cercopithecus aethiops / Humans / General / Mutation / Virus / Resistance / Animals / Drug Resistance / Human immunodeficiency virus / Base Sequence / Reverse Transcriptase / Nevirapine / Cercopithecus aethiops / Humans / General / Mutation / Virus / Resistance / Animals / Drug Resistance / Human immunodeficiency virus / Base Sequence / Reverse Transcriptase / Nevirapine
Human Hydroxysteroid Sulfotransferase SULT2B1: Two Enzymes Encoded by a Single Chromosome 19 Gene
Information Systems / Pharmacology / Genetics / Genomics / Confocal Microscopy / Gene expression / Functional Genomics / Cercopithecus aethiops / Pregnancy / Humans / Mutation / Placenta / Haplotypes / Pharmacogenetics / Female / Animals / Male / Homology / Alternative splicing / Prostate / Enzyme / African Americans / Molecular cloning / Trachea / Substrate Specificity / Isoenzymes / Linkage Disequilibrium / European Continental Ancestry Group / Dehydroepiandrosterone / Amino Acid Profile / Alternative Splicing / Amino Acid Sequence / Base Sequence / Genetic Mapping / Open Reading Frame / Recombinant Proteins / Small Intestine / Cysteine Proteinase Inhibitors / Molecular Sequence Data / Gene expression / Functional Genomics / Cercopithecus aethiops / Pregnancy / Humans / Mutation / Placenta / Haplotypes / Pharmacogenetics / Female / Animals / Male / Homology / Alternative splicing / Prostate / Enzyme / African Americans / Molecular cloning / Trachea / Substrate Specificity / Isoenzymes / Linkage Disequilibrium / European Continental Ancestry Group / Dehydroepiandrosterone / Amino Acid Profile / Alternative Splicing / Amino Acid Sequence / Base Sequence / Genetic Mapping / Open Reading Frame / Recombinant Proteins / Small Intestine / Cysteine Proteinase Inhibitors / Molecular Sequence Data
A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome
Animal Behavior / Biological Sciences / Mutation / Mice / Cholesterol / Female / Animals / Male / Rett syndrome / Quantitative Trait Loci / Female / Animals / Male / Rett syndrome / Quantitative Trait Loci
Distinct white collar-1 genes control specific light responses in Mucor circinelloides
Molecular Microbiology / Carotenoids / Transcription Factors / Signal Transduction / Biological Sciences / Sequence alignment / Mutation / Phenotype / Amino Acid Sequence / DNA binding proteins / Molecular Sequence Data / Sequence alignment / Mutation / Phenotype / Amino Acid Sequence / DNA binding proteins / Molecular Sequence Data
Burkholderia cenocepacia O antigen lipopolysaccharide prevents phagocytosis by macrophages and adhesion to epithelial cells
Microbiology / Medical Microbiology / Macrophages / Adhesion / Biological Sciences / Lipopolysaccharide / Cell line / Mutation / Mice / Animals / Bacteria / Lung / Phagocytosis / Epithelial cells / Burkholderia / Bacterial Adhesion / Lipopolysaccharide / Cell line / Mutation / Mice / Animals / Bacteria / Lung / Phagocytosis / Epithelial cells / Burkholderia / Bacterial Adhesion
Metabolic encephalopathy in beta-ketothiolase deficiency: The first report from India
Brain development / India / Brain / Humans / Mutation / Male / Infant / X ray Computed Tomography / DNA mutational analysis / Male / Infant / X ray Computed Tomography / DNA mutational analysis
Identification of amino acid residues critical for endonuclease and integration activities of HIV-1 IN protein in Vitro
Bacteriology / Catalysis / Flow Cytometry / Virology / Calcium / Biological Chemistry / Magnetic Resonance Spectroscopy / Gene expression / Cell separation / Biocatalysis / Signal Transduction / HIV / Biological Sciences / Cell line / Identification / Humans / Mutagenesis / Sequence alignment / Mutation / Placenta / Virus / Escherichia coli / Animals / Plants / Monoclonal Antibodies / Chemotaxis / Phosphorylation / Plasmids / Affinity chromatography / Phenotype / Phosphotyrosine / CHEMICAL SCIENCES / Molecular cloning / Amino Acids / Mycoplasma Genitalium / Lysine / Amino Acid Profile / Transfection / Protein Conformation / Amino Acid Sequence / Base Sequence / Amino Acid Substitution Rates / Chemokines / Structure activity Relationship / Newcastle Disease Virus / Recombinant Proteins / Protein Binding / Hydrolysis / DNA binding proteins / Site-directed Mutagenesis / Interleukin / Interferon Alpha / Down-Regulation / Molecular Sequence Data / Biological Chemistry / Magnetic Resonance Spectroscopy / Gene expression / Cell separation / Biocatalysis / Signal Transduction / HIV / Biological Sciences / Cell line / Identification / Humans / Mutagenesis / Sequence alignment / Mutation / Placenta / Virus / Escherichia coli / Animals / Plants / Monoclonal Antibodies / Chemotaxis / Phosphorylation / Plasmids / Affinity chromatography / Phenotype / Phosphotyrosine / CHEMICAL SCIENCES / Molecular cloning / Amino Acids / Mycoplasma Genitalium / Lysine / Amino Acid Profile / Transfection / Protein Conformation / Amino Acid Sequence / Base Sequence / Amino Acid Substitution Rates / Chemokines / Structure activity Relationship / Newcastle Disease Virus / Recombinant Proteins / Protein Binding / Hydrolysis / DNA binding proteins / Site-directed Mutagenesis / Interleukin / Interferon Alpha / Down-Regulation / Molecular Sequence Data
Identification of amino acid residues critical for endonuclease and integration activities of HIV1 IN protein in Vitro
Bacteriology / Catalysis / Flow Cytometry / Virology / Calcium / Biological Chemistry / Magnetic Resonance Spectroscopy / Gene expression / Cell separation / Biocatalysis / Signal Transduction / HIV / Biological Sciences / Cell line / Identification / Humans / Mutagenesis / Sequence alignment / Mutation / Placenta / Virus / Escherichia coli / Animals / Biological / Plants / Monoclonal Antibodies / Chemotaxis / Phosphorylation / Plasmids / Affinity chromatography / Phenotype / Phosphotyrosine / CHEMICAL SCIENCES / Molecular cloning / Amino Acids / Mycoplasma Genitalium / Lysine / Amino Acid Profile / Transfection / Protein Conformation / Amino Acid Sequence / Base Sequence / Amino Acid Substitution Rates / Chemokines / Structure activity Relationship / Newcastle Disease Virus / Recombinant Proteins / Protein Binding / Hydrolysis / DNA binding proteins / Site-directed Mutagenesis / Interleukin / Interferon Alpha / Down-Regulation / Molecular Sequence Data / Biological Chemistry / Magnetic Resonance Spectroscopy / Gene expression / Cell separation / Biocatalysis / Signal Transduction / HIV / Biological Sciences / Cell line / Identification / Humans / Mutagenesis / Sequence alignment / Mutation / Placenta / Virus / Escherichia coli / Animals / Biological / Plants / Monoclonal Antibodies / Chemotaxis / Phosphorylation / Plasmids / Affinity chromatography / Phenotype / Phosphotyrosine / CHEMICAL SCIENCES / Molecular cloning / Amino Acids / Mycoplasma Genitalium / Lysine / Amino Acid Profile / Transfection / Protein Conformation / Amino Acid Sequence / Base Sequence / Amino Acid Substitution Rates / Chemokines / Structure activity Relationship / Newcastle Disease Virus / Recombinant Proteins / Protein Binding / Hydrolysis / DNA binding proteins / Site-directed Mutagenesis / Interleukin / Interferon Alpha / Down-Regulation / Molecular Sequence Data
Drosophila Embryos Lacking N-Myristoyltransferase Have Multiple Developmental Defects
Apoptosis / Cytoskeleton / Signal Transduction / Drosophila / Cell morphology / Mutation / Animals / Cell Death / Central Nervous System / Actin Cytoskeleton / Phenotype / Enzyme / Clinical Sciences / Embryonic Development / Amino Acid Sequence / Base Sequence / Embryos / Biochemistry and cell biology / Tyrosine Kinase / Mutation / Animals / Cell Death / Central Nervous System / Actin Cytoskeleton / Phenotype / Enzyme / Clinical Sciences / Embryonic Development / Amino Acid Sequence / Base Sequence / Embryos / Biochemistry and cell biology / Tyrosine Kinase
Myoclonus-dystonia: An update
Genetics / Cognitive Science / Neurology / Magnetic Resonance Imaging / Pathophysiology / Movement disorders / Humans / Mutation / Movement / Differential Diagnosis / Dystonia / Clinical Sciences / Myoclonus / Movement disorders / Humans / Mutation / Movement / Differential Diagnosis / Dystonia / Clinical Sciences / Myoclonus
P450 oxidoreductase deficiency
Genetics / Biology / Drug metabolism / STEROIDS / Multidisciplinary / Humans / Mutation / Electron Transfer / Animals / Inborn errors of metabolism / Cytochrome C / Endocrine / Enzyme / Clinical Sciences / Deficiency / Genetic variation / Amino Acid Substitution Rates / Structure activity Relationship / Deficit / Knockout Mice / Syndrome / Bone and Bones / Humans / Mutation / Electron Transfer / Animals / Inborn errors of metabolism / Cytochrome C / Endocrine / Enzyme / Clinical Sciences / Deficiency / Genetic variation / Amino Acid Substitution Rates / Structure activity Relationship / Deficit / Knockout Mice / Syndrome / Bone and Bones
P450 oxidoreductase deficiency
Genetics / Biology / Drug metabolism / STEROIDS / Multidisciplinary / Humans / Mutation / Electron Transfer / Animals / Inborn errors of metabolism / Cytochrome C / Endocrine / Enzyme / Clinical Sciences / Deficiency / Genetic variation / Amino Acid Substitution Rates / Structure activity Relationship / Deficit / Knockout Mice / Syndrome / Bone and Bones / Humans / Mutation / Electron Transfer / Animals / Inborn errors of metabolism / Cytochrome C / Endocrine / Enzyme / Clinical Sciences / Deficiency / Genetic variation / Amino Acid Substitution Rates / Structure activity Relationship / Deficit / Knockout Mice / Syndrome / Bone and Bones
Drosophila eiger Mutants Are Sensitive to Extracellular Pathogens
Microbiology / Immunology / Medical Microbiology / Membrane Proteins / Innate immunity / Drosophila / Mutation / Gram Positive / Animals / Salmonella Typhimurium / Beauveria / Gram Positive Bacteria / Gram-negative bacteria / Immunocompromised host / Tumor Necrosis Factor–α (TNF) / Burkholderia Cepacia / Gene Expression Regulation / Drosophila / Mutation / Gram Positive / Animals / Salmonella Typhimurium / Beauveria / Gram Positive Bacteria / Gram-negative bacteria / Immunocompromised host / Tumor Necrosis Factor–α (TNF) / Burkholderia Cepacia / Gene Expression Regulation
Classical genetics goes high-tech
Genetics / Technology / Caenorhabditis elegans / Biological Sciences / Automation / Genetic Testing / Mutation / Animals / Genetic Testing / Mutation / Animals
Preimplantation and prenatal genetic diagnosis of aromatic L-amino acid decarboxylase deficiency with an amplification refractory mutation system-quantitative polymerase chain reaction
Genetics / Pregnancy / Humans / qPCR / Genetic Testing / Mutation / Taiwan / Female / Polymerase Chain Reaction / Arms / Preimplantation genetic diagnosis / Prenatal Diagnosis / Amino Acid Profile / Amplification Refractory Mutation System / Quantitative polymerase chain reaction / Mutation / Taiwan / Female / Polymerase Chain Reaction / Arms / Preimplantation genetic diagnosis / Prenatal Diagnosis / Amino Acid Profile / Amplification Refractory Mutation System / Quantitative polymerase chain reaction
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