Mutation - Page 11

Micronuclei frequency in children exposed to environmental mutagens: a review

Genetics / Life Style / Molecular Epidemiology / Humans / Child / Low Dose / Mutation / Micronuclei / Infectious Disease / Reviews / Children and Adolescents / Environmental Pollutants / Ionizing Radiation / Mutagens / Environmental Tobacco Smoke / Environmental Exposure / Low Dose / Mutation / Micronuclei / Infectious Disease / Reviews / Children and Adolescents / Environmental Pollutants / Ionizing Radiation / Mutagens / Environmental Tobacco Smoke / Environmental Exposure

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A Mutation in Para-Hydroxybenzoate-Polyprenyl Transferase (COQ2) Causes Primary Coenzyme Q10 Deficiency

Biological Sciences / Humans / Mutation / Female / Male / Infant / Cysteine / Amino Acid Sequence / Amino Acid Substitution Rates / Human Fibroblasts / Coenzyme Q / Tyrosine / The American / Infant / Cysteine / Amino Acid Sequence / Amino Acid Substitution Rates / Human Fibroblasts / Coenzyme Q / Tyrosine / The American

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Human Coenzyme Q10 Deficiency

Genetics / Biological Sciences / Humans / Mutation / Infant / Newborn Infant / Coenzyme Q / Nervous System Diseases / Neurochemical / Newborn Infant / Coenzyme Q / Nervous System Diseases / Neurochemical

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Intratumoral heterogeneity in a minority of ovarian low-grade serous carcinomas

Membrane Proteins / Humans / Mutation / Female / Middle Aged / Adult

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Tipranavir: control de concentraciones plasmáticas en un paciente pediátrico con infección por el virus de la inmunodeficiencia humana

Medical Microbiology / HIV / Humans / Child / Mutation / HIV protease / Male / Pyridines / Combination drug therapy / Viral Load / HIV protease / Male / Pyridines / Combination drug therapy / Viral Load

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Inferring gene expression from ribosomal promoter sequences, a crowdsourcing approach

Algorithms / Systems Biology / Crowdsourcing / Gene expression / Biological Sciences / Saccharomyces cerevisiae / Mutation / Ribosomal proteins / Genome / Gene Regulatory Networks / Ribosomes / Gene expression profiling / Saccharomyces cerevisiae / Mutation / Ribosomal proteins / Genome / Gene Regulatory Networks / Ribosomes / Gene expression profiling

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Structural Analysis of a Putative Aminoglycoside N-Acetyltransferase from Bacillus anthracis

Thermodynamics / Molecular Biology / Protein Folding / Macromolecular X-Ray Crystallography / Molecular / Humans / Mutation / Escherichia coli / Protein structure / Structure Analysis / Anthrax / Anti-Bacterial Agents / Protein Secondary Structure Prediction / Bacillus subtilis / Substrate Specificity / Amino Acid Sequence / Resistance Genes Mechanism) / Bacillus Anthracis / Lethal Factor / Protein Binding / Protein Data Bank / Biochemistry and cell biology / Humans / Mutation / Escherichia coli / Protein structure / Structure Analysis / Anthrax / Anti-Bacterial Agents / Protein Secondary Structure Prediction / Bacillus subtilis / Substrate Specificity / Amino Acid Sequence / Resistance Genes Mechanism) / Bacillus Anthracis / Lethal Factor / Protein Binding / Protein Data Bank / Biochemistry and cell biology

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Human immunodeficiency virus type 2 lentiviral vectors: packaging signal and splice donor in expression and encapsidation

HIV / Genetic Engineering / Biological Sciences / Cell line / Humans / General / Mutation / Plasmids / Capsid / Introns / Human immunodeficiency virus / Transgene Expression / Response Elements / Gene Transfer / General / Mutation / Plasmids / Capsid / Introns / Human immunodeficiency virus / Transgene Expression / Response Elements / Gene Transfer

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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 / Mitochondrion / Mitochondrial DNA / Humans / Mutation / Female / Male / ATP synthase / Mitochondrial Respiratory Chain / Newborn Infant / Mitochondrial Diseases / Adult / Cardiomyopathies / Human Fibroblasts / Mitochondrion

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Progranulin genetic variability contributes to amyotrophic lateral sclerosis

Cognitive Science / Neurology / Dementia / Belgium / Amyotrophic Lateral Sclerosis / Humans / Genetic Testing / Mutation / Haplotypes / Female / Male / Netherlands / Clinical Sciences / Aged / Middle Aged / Genotype / Adult / Survival Rate / Genetic variation / Genetic Variability / Genetic Markers / Neurosciences / Age of Onset / Humans / Genetic Testing / Mutation / Haplotypes / Female / Male / Netherlands / Clinical Sciences / Aged / Middle Aged / Genotype / Adult / Survival Rate / Genetic variation / Genetic Variability / Genetic Markers / Neurosciences / Age of Onset

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Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta

Mass Spectrometry / Biological Sciences / Humans / Mutation / Osteogenesis Imperfecta / Female / Male / Phenotype / Proteoglycans / Time Factors / Deficiency / Deficit / Female / Male / Phenotype / Proteoglycans / Time Factors / Deficiency / Deficit

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RNA Polymerase IV Directs Silencing of Endogenous DNA

Science / RNA polymerase / Multidisciplinary / Gene Silencing / RNA interference / Mutation / DNA methylation / Oryza Sativa / Arabidopsis / Chromatin / Amino Acid Sequence / Base Sequence / Mutation / DNA methylation / Oryza Sativa / Arabidopsis / Chromatin / Amino Acid Sequence / Base Sequence

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tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

M Rna Processing / Biological Sciences / Brain / Humans / Cerebellum / Mutation / Autosomal Recessive / Syndrome / Mutation / Autosomal Recessive / Syndrome

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Exome sequencing identifies mutation in CNOT3 and ribosomal genes RPL5 and RPL10 in T-cell acute lymphoblastic leukemia

Drosophila melanogaster / Transcription Factors / Biological Sciences / Saccharomyces cerevisiae / RNA interference / Humans / Sequence alignment / Mutation / Mice / Animals / Ribosomal proteins / Base Sequence / Site-directed Mutagenesis / Exome / Polyribosomes / Humans / Sequence alignment / Mutation / Mice / Animals / Ribosomal proteins / Base Sequence / Site-directed Mutagenesis / Exome / Polyribosomes

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Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Identification of a new inborn error of mitochondrial fatty acidβ-oxidation

Nursing / Pediatrics / Treatment Outcome / Mitochondria / Pediatric nursing / Adolescent / Liver diseases / High Frequency / Heart Failure / Pregnancy / Humans / Child / Liver Cirrhosis / Liver / Mutation / Female / Male / Hypoglycemia / Fatty Acid Oxidation / Infant / Follow-up studies / Netherlands / Differential Diagnosis / HELLP Syndrome / Phenotype / Clinical Sciences / Newborn Infant / L-carnitine / Questionnaires / Optometry and Ophthalmology / Public health systems and services research / Survival Rate / Fatty Acid / Health surveys / Multienzyme complexes / Cardiomyopathies / Status Epilepticus / Base Sequence / Human Fibroblasts / Clinical Presentation / Clinical Signs / Antiepileptic Drug / Archivos Argentinos De Pediatria / Brain Damage / Age of Onset / Adolescent / Liver diseases / High Frequency / Heart Failure / Pregnancy / Humans / Child / Liver Cirrhosis / Liver / Mutation / Female / Male / Hypoglycemia / Fatty Acid Oxidation / Infant / Follow-up studies / Netherlands / Differential Diagnosis / HELLP Syndrome / Phenotype / Clinical Sciences / Newborn Infant / L-carnitine / Questionnaires / Optometry and Ophthalmology / Public health systems and services research / Survival Rate / Fatty Acid / Health surveys / Multienzyme complexes / Cardiomyopathies / Status Epilepticus / Base Sequence / Human Fibroblasts / Clinical Presentation / Clinical Signs / Antiepileptic Drug / Archivos Argentinos De Pediatria / Brain Damage / Age of Onset

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Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing

Medical Genetics / Biological Sciences / Humans / Mutation / Retinitis pigmentosa / Female / Pedigree / Genotype / Reproducibility of Results / Amino Acid Sequence / Base Sequence / Sensitivity and Specificity / Exome / Female / Pedigree / Genotype / Reproducibility of Results / Amino Acid Sequence / Base Sequence / Sensitivity and Specificity / Exome

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