Mutation

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

Cerebellothalamocortical Connectivity Regulates Penetrance in Dystonia

Neuroscience / Positron Emission Tomography / Molecular chaperones / Brain Mapping / Humans / Cerebellum / Thalamus / Computer Simulation / Mutation / Cerebral Cortex / Female / Male / Three Dimensional Imaging / Dystonia / Adult / Neural pathways / Monte Carlo Method / Cerebellum / Thalamus / Computer Simulation / Mutation / Cerebral Cortex / Female / Male / Three Dimensional Imaging / Dystonia / Adult / Neural pathways / Monte Carlo Method

A three base pair deletion encoding the amino acid (lysine-270) in the alpha-cone transducin gene

Humans / Mutation / Male / Polymerase Chain Reaction / Retinal Degeneration / Pedigree / Optometry and Ophthalmology / Genotype / Lysine / Adult / Amino Acid Sequence / Base Sequence / Transducin / Pedigree / Optometry and Ophthalmology / Genotype / Lysine / Adult / Amino Acid Sequence / Base Sequence / Transducin

Pseudogenes as a paradigm of neutral evolution

Multidisciplinary / Nature / Mutation / Mice / Animals / Biological evolution / Genes / Time Factors / Neutral Evolution / Amino Acid Profile / Codon / Rabbits / Base Sequence / Biological evolution / Genes / Time Factors / Neutral Evolution / Amino Acid Profile / Codon / Rabbits / Base Sequence

Cell cycle, DNA replication, repair, and recombination in the dimorphic human pathogenic fungus Paracoccidioides brasiliensis

Genetics / Data Mining / Cell Cycle / DNA replication / DNA repair / Saccharomyces cerevisiae / Humans / Mutation / Life Cycle / Chromosome segregation / Genetic Recombination / Cell Cycle Control / Paracoccidioides / Saccharomyces cerevisiae / Humans / Mutation / Life Cycle / Chromosome segregation / Genetic Recombination / Cell Cycle Control / Paracoccidioides

Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients

Genetics / Adolescent / Sweden / Mental Retardation / Humans / Child / Mutation / Female / Nucleic acid hybridization / Male / Facial Features / Proteins / Phenotype / European / Congenital Anomalies / Cornelia de Lange Syndrome / Developmental delay / Upper Limb / Cell Cycle Proteins / Chromosomal Instability / Chromosomal abnormalities / Array Comparative Genomic Hybridization / Cohort Studies / Child / Mutation / Female / Nucleic acid hybridization / Male / Facial Features / Proteins / Phenotype / European / Congenital Anomalies / Cornelia de Lange Syndrome / Developmental delay / Upper Limb / Cell Cycle Proteins / Chromosomal Instability / Chromosomal abnormalities / Array Comparative Genomic Hybridization / Cohort Studies

Environmental stress sensitivity of an ascorbic acid-deficient Arabidopsis mutant

Genetics / Multidisciplinary / Free Radical / Mutation / Signal Transduction Pathway Models / Arabidopsis / Ascorbic Acid / Ozone / Environmental Stress / Arabidopsis / Ascorbic Acid / Ozone / Environmental Stress

Arabidopsis Phosphoribosylanthranilate Isomerase: Molecular Genetic Analysis of Triplicate Tryptophan Pathway Genes

Genetics / Plant Biology / Molecular Genetics / Mutation / Escherichia coli / Tryptophan / Arabidopsis / Phenotype / Enzyme / Genomic DNA / UV light / Multienzyme complexes / Enzyme activity / Amino Acid Profile / Plant cell / Amino Acid Sequence / Base Sequence / Gene Family / PLANT PROTEINS / Transgenic plant / Nucleotides / Biochemistry and cell biology / Tryptophan / Arabidopsis / Phenotype / Enzyme / Genomic DNA / UV light / Multienzyme complexes / Enzyme activity / Amino Acid Profile / Plant cell / Amino Acid Sequence / Base Sequence / Gene Family / PLANT PROTEINS / Transgenic plant / Nucleotides / Biochemistry and cell biology

Polimorfismo 677CT del gen de la metilentetradihidrofolato reductasa y cardiopatías congénitas aisladas en población mexicana

Folic acid / Adolescent / Mexico / DNA / Congenital Heart Defects / Pregnancy / Humans / Child / Mutation / Female / Polymerase Chain Reaction / OR / Young Adult / Infant / MTHFR / Homocysteine / Newborn Infant / Adult / MEXICO / Prenatal Care / Pregnancy / Humans / Child / Mutation / Female / Polymerase Chain Reaction / OR / Young Adult / Infant / MTHFR / Homocysteine / Newborn Infant / Adult / MEXICO / Prenatal Care

Dynamics of HIV-1 Quasispecies during Antiviral Treatment Dissected Using Ultra-Deep Pyrosequencing

Multidisciplinary / HIV / Humans / Data cleaning / Mutation / Drug Resistance / Polymerase Chain Reaction / Bit Error Rate / PLoS one / Genetic variation / Amino Acid Profile / Reverse Transcriptase / Drug Resistance / Polymerase Chain Reaction / Bit Error Rate / PLoS one / Genetic variation / Amino Acid Profile / Reverse Transcriptase

Physcomitrella PpORS, Basal to Plant Type III Polyketide Synthases in Phylogenetic Trees, Is a Very Long Chain 2\'-Oxoalkylresorcinol Synthase

Catalysis / Kinetics / Biological Chemistry / Biological Sciences / Phylogeny / Mutation / Expressed Sequence Tags / CHEMICAL SCIENCES / Molecular cloning / Recombinant Proteins / Protein Binding / Mutation / Expressed Sequence Tags / CHEMICAL SCIENCES / Molecular cloning / Recombinant Proteins / Protein Binding

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

Experimental Diabetes Mellitus Exacerbates Tau Pathology in P301L-tau Transgenic Mouse Model

Immunohistochemistry / Multidisciplinary / Comorbidity / Transgenic Mice / Humans / Blood Glucose / Diabetes mellitus / Mutation / Mice / Animals / Phosphorylation / PLoS one / Clinical Sciences / Formic Acid / Time Factors / Western blot / BIOCHEMICAL PHARMACOLOGY / Sarcosine / Streptozotocin / Transgenic Mouse Technology / Alzheimer Disease / Neurosciences / Blood Glucose / Diabetes mellitus / Mutation / Mice / Animals / Phosphorylation / PLoS one / Clinical Sciences / Formic Acid / Time Factors / Western blot / BIOCHEMICAL PHARMACOLOGY / Sarcosine / Streptozotocin / Transgenic Mouse Technology / Alzheimer Disease / Neurosciences

Characterization of a putative 3-deoxy-D-manno-2-octulosonic acid (Kdo) transferase gene from Arabidopsis thaliana

Glycobiology / Arabidopsis thaliana / Biological Sciences / Phylogeny / Mutation / Arabidopsis / Pectins / Amino Acid Sequence / Arabidopsis / Pectins / Amino Acid Sequence

Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome

Genetic counseling / Humans / Mutation / Male / Hyperuricemia / Uric Acid / Spectrum / Prenatal Diagnosis / X chromosome / Molecular Diagnosis / Uric Acid / Spectrum / Prenatal Diagnosis / X chromosome / Molecular Diagnosis

DnaJ/hsp40 chaperone domain of SV40 large T antigen promotes efficient viral DNA replication

DNA replication / Biological Sciences / Cell line / Humans / Mutation / Animals / Genes / Heat Shock Proteins / Amino Acid Sequence / Base Sequence / Molecular Structure / Animals / Genes / Heat Shock Proteins / Amino Acid Sequence / Base Sequence / Molecular Structure

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