Mutation

Functional PMS2 hybrid alleles containing a pseudogene-specific missense variant trace back to a single ancient intrachromosomal recombination event

Genetics / Human / Humans / Mutation / Haplotypes / Polymerase Chain Reaction / Clinical Sciences / Chimera / Genetic Recombination / Base Sequence / Pseudogenes / DNA binding proteins / Polymerase Chain Reaction / Clinical Sciences / Chimera / Genetic Recombination / Base Sequence / Pseudogenes / DNA binding proteins

Structural plasticity of Cid1 provides a basis for its distributive RNA terminal uridylyl transferase activity

Macromolecular X-Ray Crystallography / Biocatalysis / Biological Sciences / Environmental Sciences / Mutation / Nucleic Acids / Schizosaccharomyces Pombe / Rotation / Nucleic Acids / Schizosaccharomyces Pombe / Rotation

An Alternative Mechanism of Bicarbonate-mediated Peroxidation by Copper-Zinc Superoxide Dismutase: RATES ENHANCED VIA PROPOSED ENZYME-ASSOCIATED PEROXYCARBONATE INTERMEDIATE

Oxidative Stress / Biological Chemistry / Macromolecular X-Ray Crystallography / Amyotrophic Lateral Sclerosis / Biological Sciences / Humans / Mutation / Copper / Biological / Zinc / Superoxide Dismutase / Enzyme / CHEMICAL SCIENCES / Hydrogen Peroxide / Humans / Mutation / Copper / Biological / Zinc / Superoxide Dismutase / Enzyme / CHEMICAL SCIENCES / Hydrogen Peroxide

MitBASE: a comprehensive and integrated mitochondrial DNA database

Invertebrates / Applied Research / Fungi / Biological Sciences / Saccharomyces cerevisiae / Environmental Sciences / Mitochondrial DNA / Humans / Mutation / Europe / Animals / Vertebrates / Classification / Plants / Nucleic Acids / Computer User Interface Design / Information Storage and Retrieval / Cell nucleus / Genetic variation / Value added / Internet / Genetic Code / Environmental Sciences / Mitochondrial DNA / Humans / Mutation / Europe / Animals / Vertebrates / Classification / Plants / Nucleic Acids / Computer User Interface Design / Information Storage and Retrieval / Cell nucleus / Genetic variation / Value added / Internet / Genetic Code

Aspartoacylase-LacZ Knockin Mice: An Engineered Model of Canavan Disease

Multidisciplinary / Corpus Callosum / Optic Nerve / Mutation / Mice / Female / Animals / Male / Astrocyte / PLoS one / Enzyme / White matter / Degeneration / Schwann Cell / Myo-inositol / Canavan Disease / Female / Animals / Male / Astrocyte / PLoS one / Enzyme / White matter / Degeneration / Schwann Cell / Myo-inositol / Canavan Disease

An aromatic residue switch in enhancer-dependent bacterial RNA polymerase controls transcription intermediate complex activity

Biological Sciences / DNA / Environmental Sciences / Mutation / Archaea / Bacteria / Nucleic Acids / Tryptophan / Amino Acid Sequence / Amino Acid Substitution Rates / Bacteria / Nucleic Acids / Tryptophan / Amino Acid Sequence / Amino Acid Substitution Rates

Antenatal presentation of carnitine palmitoyltransferase II deficiency

Genetics / DNA / Pregnancy / Humans / Kidney / Mutation / Female / Male / Jews / Clinical Sciences / Family Health / Calcinosis / Prenatal Diagnosis / Fetus / Fetal death / Mutation / Female / Male / Jews / Clinical Sciences / Family Health / Calcinosis / Prenatal Diagnosis / Fetus / Fetal death

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

Nuclear Legumain Activity in Colorectal Cancer

Engineering / Physics / Chemistry / Biology / Immunohistochemistry / Confocal Microscopy / Medicine / Multidisciplinary / RNA interference / Humans / Mutation / Mice / Female / Animals / PLoS one / Cell nucleus / Peer reviewed / Cysteine endopeptidases / Amino Acid Sequence / Lysosomes / Immunoblotting / Confocal Microscopy / Medicine / Multidisciplinary / RNA interference / Humans / Mutation / Mice / Female / Animals / PLoS one / Cell nucleus / Peer reviewed / Cysteine endopeptidases / Amino Acid Sequence / Lysosomes / Immunoblotting

Fancy Bioisosteres: Novel Paracyclophane Derivatives As Super-Affinity Dopamine D3 Receptor Antagonists

Organic Chemistry / Medicinal Chemistry / Magnetic Resonance Spectroscopy / Dopamine / Humans / Mutation / Animals / Amides / Swine / Radioligand Assay / Medicinal / Molecular Conformation / Structure activity Relationship / Mutation / Animals / Amides / Swine / Radioligand Assay / Medicinal / Molecular Conformation / Structure activity Relationship

hecate, a zebrafish maternal effect gene, affects dorsal organizer induction and intracellular calcium transient frequency

Developmental Biology / Calcium / Gene expression / Biological Sciences / Mutation / Wnt Signaling / Animals / Beta-Catenin / Zebrafish / Embryos / Maternal Effect / Intracellular Calcium / Wnt Signaling / Animals / Beta-Catenin / Zebrafish / Embryos / Maternal Effect / Intracellular Calcium

Blinded, Multicenter Comparison of Methods To Detect a Drug-Resistant Mutant of Human Immunodeficiency Virus Type 1 at Low Frequency

Virology / Low Frequency / HIV / Clinical Microbiology / Biological Sciences / Antiretroviral Therapy / Humans / Mutation / Clinical / Drug Resistance / Human immunodeficiency virus / Molecular Diagnostic Techniques / Sensitivity and Specificity / Reverse Transcriptase / Antiretroviral Therapy / Humans / Mutation / Clinical / Drug Resistance / Human immunodeficiency virus / Molecular Diagnostic Techniques / Sensitivity and Specificity / Reverse Transcriptase

Blinded, Multicenter Comparison of Methods To Detect a Drug-Resistant Mutant of Human Immunodeficiency Virus Type 1 at Low Frequency

Virology / Low Frequency / HIV / Clinical Microbiology / Biological Sciences / Antiretroviral Therapy / Humans / Mutation / Clinical / Drug Resistance / Human immunodeficiency virus / Molecular Diagnostic Techniques / Sensitivity and Specificity / Reverse Transcriptase / Antiretroviral Therapy / Humans / Mutation / Clinical / Drug Resistance / Human immunodeficiency virus / Molecular Diagnostic Techniques / Sensitivity and Specificity / Reverse Transcriptase

Micronucleus induction in erythrocytes of the Hyla pulchella tadpoles (Amphibia: Hylidae) exposed to insecticide endosulfan

Genetic Toxicology / DNA damage / Environmental Biotechnology / Insecticides / Mutation / Micronuclei / Animals / Crop Production / Endosulfan / Ranidae / Larva / Erythrocytes / Experimental Model / Micronuclei / Animals / Crop Production / Endosulfan / Ranidae / Larva / Erythrocytes / Experimental Model

Expression of lipoprotein lipase gene in combined lipase deficiency

Genetics / RNA / Biological Sciences / DNA / Mutation / Mice / Animals / Physical sciences / Gene Expression Regulation / Mice / Animals / Physical sciences / Gene Expression Regulation

Cytoplasmic localization of PML particles in laminopathies

Fluorescence Microscopy / Adolescent / Transcription Factors / Humans / Child / Mutation / Female / Male / Skin / Phenotype / Middle Aged / Cell nucleus / Genotype / Adult / Time Factors / Biological markers / Transfection / Human Fibroblasts / Cytoplasm / Mutation / Female / Male / Skin / Phenotype / Middle Aged / Cell nucleus / Genotype / Adult / Time Factors / Biological markers / Transfection / Human Fibroblasts / Cytoplasm

Copyright © 2017 DATOSPDF Inc.