Mutation - Page 6

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 / Molecular Sequence Data / Mutation / DNA methylation / Oryza Sativa / Arabidopsis / Chromatin / Amino Acid Sequence / Base Sequence / Molecular Sequence Data

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Glucocorticoid and mineralocorticoid receptor mRNA expression in squirrel monkey brain

Endocrinology / Neuroendocrinology / Immunohistochemistry / Gene expression / Prefrontal Cortex / Western blotting / Biological Sciences / Hippocampus / Dexamethasone / Brain / Humans / Testosterone / Intestinal Mucosa / Mutation / Cerebral Cortex / Aldosterone / Cholesterol / Female / Animals / Microglia / Corticosterone / Plant tissue Culture Techniques / Male / Hepatocellular Carcinoma / Psychoneuroendocrinology / Special functions / Rat Brain / Steady state / Clinical Sciences / Dentate Gyrus / mRna expression levels / Rats / Tritium / Diurnal Variation / Brain Structure / Dehydroepiandrosterone / Elevated Plus Maze / Glia / Psychiatric / Culture Media / Protein Binding / Mineralocorticoid Receptor / Neurosciences / Glucocorticoids / Estradiol / Adrenalectomy / DNA probes / Pregnenolone / Biochemistry and cell biology / Granule cell layer / Hippocampal formation / Lateral Amygdala / Western blotting / Biological Sciences / Hippocampus / Dexamethasone / Brain / Humans / Testosterone / Intestinal Mucosa / Mutation / Cerebral Cortex / Aldosterone / Cholesterol / Female / Animals / Microglia / Corticosterone / Plant tissue Culture Techniques / Male / Hepatocellular Carcinoma / Psychoneuroendocrinology / Special functions / Rat Brain / Steady state / Clinical Sciences / Dentate Gyrus / mRna expression levels / Rats / Tritium / Diurnal Variation / Brain Structure / Dehydroepiandrosterone / Elevated Plus Maze / Glia / Psychiatric / Culture Media / Protein Binding / Mineralocorticoid Receptor / Neurosciences / Glucocorticoids / Estradiol / Adrenalectomy / DNA probes / Pregnenolone / Biochemistry and cell biology / Granule cell layer / Hippocampal formation / Lateral Amygdala

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A pmrA Constitutive Mutant Sensitizes Escherichia coli to Deoxycholic Acid

Bacteriology / Sequence Analysis / Biological Sciences / Lipopolysaccharide / Mutation / Escherichia coli / Zinc / Iron / Gram-negative bacteria / Chemical Composition / Lipid A / Escherichia coli / Zinc / Iron / Gram-negative bacteria / Chemical Composition / Lipid A

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Progranulin genetic variations in frontotemporal lobar degeneration: evidence for low mutation frequency in an Italian clinical series

Genetics / Cognitive Science / Neurology / Brain Imaging / Dementia / Neurogenetics / Family history / Italy / Humans / Italian / Mutation / Female / Male / Frequency / Pedigree / Italiano / Introns / Aged / Middle Aged / Genetic variation / Base Sequence / Genetic Variability / Neurosciences / Case Control Studies / Neurogenetics / Family history / Italy / Humans / Italian / Mutation / Female / Male / Frequency / Pedigree / Italiano / Introns / Aged / Middle Aged / Genetic variation / Base Sequence / Genetic Variability / Neurosciences / Case Control Studies

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Tratamientos reparadores de la proteína CFTR en la fibrosis quística

Cystic Fibrosis / Humans / Mutation / Quinolones / Clinical Sciences / Molecular Targeted Therapy / Aminophenols / Molecular Targeted Therapy / Aminophenols

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Paradoxes in longevity: sequence analysis of mtDNA haplogroup J in centenarians

Genetics / Aging / Sequence Analysis / Longevity / Mitochondrial DNA / Genetics of complex disease / Humans / Mutation / Haplotypes / Female / Male / European / Aged / Genetics of complex disease / Humans / Mutation / Haplotypes / Female / Male / European / Aged

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Paradoxes in longevity: sequence analysis of mtDNA haplogroup J in centenarians

Genetics / Aging / Sequence Analysis / Longevity / Mitochondrial DNA / Genetics of complex disease / Humans / Mutation / Haplotypes / Female / Male / European / Aged / Genetics of complex disease / Humans / Mutation / Haplotypes / Female / Male / European / Aged

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Pancreatic cancer in europe: Ki-ras gene mutation pattern shows geographical differences

Cancer / Pancreatic Cancer / Humans / Mutation / Europe / Female / Male / Polymerase Chain Reaction / Middle Aged / Base Sequence / Adenocarcinoma / Female / Male / Polymerase Chain Reaction / Middle Aged / Base Sequence / Adenocarcinoma

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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

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A Powerful Molecular Engineering Tool Provided Efficient Chlamydomonas Mutants as Bio-Sensing Elements for Herbicides Detection

Free Radicals / Fluorescence / Oxidative Stress / Multidisciplinary / Genetic Engineering / Humans / Mutation / Chlorophyll / Electron Transport / PLoS one / Herbicides / Neutrons / Amino Acid Substitution Rates / Atrazine / Chlamydomonas Reinhardtii / Protons / Biosensing Techniques / Humans / Mutation / Chlorophyll / Electron Transport / PLoS one / Herbicides / Neutrons / Amino Acid Substitution Rates / Atrazine / Chlamydomonas Reinhardtii / Protons / Biosensing Techniques

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Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency

Algorithms / Molecular Biology / Evidence Based Practice / Treatment / Comorbidity / Pregnancy / Humans / Mutation / Female / Clinical / Hormones / Male / Genetic determinism / Etiology / Phenotype / Clinical Sciences / Newborn Infant / Genotype / Deficiency / Prenatal Diagnosis / Clinical Endocrinology / Deficit / Pregnancy / Humans / Mutation / Female / Clinical / Hormones / Male / Genetic determinism / Etiology / Phenotype / Clinical Sciences / Newborn Infant / Genotype / Deficiency / Prenatal Diagnosis / Clinical Endocrinology / Deficit

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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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Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Humans / Mutation / Clinical / Pedigree / Phenotype / Congenital Adrenal Hyperplasia / Base Sequence / Clinical Investigation / Congenital Adrenal Hyperplasia / Base Sequence / Clinical Investigation

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Congenital Adrenal Hyperplasia due to 21Hydroxylase Deficiency

Physiology / Nursing / Kinetics / Quality of life / Pediatric nursing / Adolescent / Multidisciplinary / Screening / Cortisol / Pregnancy / Humans / Child / Mutation / Puberty / Female / Male / Disorders of sex development / Mutation Detection / Gene Conversion / Phenotype / Enzyme / Clinical Sciences / Newborn Infant / Optometry and Ophthalmology / Genotype / Adult / Congenital Adrenal Hyperplasia / Public health systems and services research / Prenatal Diagnosis / Amino Acid Sequence / Base Sequence / Structure activity Relationship / Enzymatic Activity / Glucocorticoids / Biochemistry and cell biology / Adolescent / Multidisciplinary / Screening / Cortisol / Pregnancy / Humans / Child / Mutation / Puberty / Female / Male / Disorders of sex development / Mutation Detection / Gene Conversion / Phenotype / Enzyme / Clinical Sciences / Newborn Infant / Optometry and Ophthalmology / Genotype / Adult / Congenital Adrenal Hyperplasia / Public health systems and services research / Prenatal Diagnosis / Amino Acid Sequence / Base Sequence / Structure activity Relationship / Enzymatic Activity / Glucocorticoids / Biochemistry and cell biology

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Preimplantation genetic diagnosis for mitochondrial DNA disorders: ethical guidance for clinical practice

Genetics / Ethics / Human Genetics / Informed Consent / Molecular Genetics / Genetic counseling / Cytogenetics / Clinical Practice / Pregnancy / Mitochondrial DNA / Humans / Genetic Testing / Mutation / Female / Feasibility Studies / Clinical Genetics / Preimplantation genetic diagnosis / Embryo Research / Mitochondrial Diseases / Scientific Research / Minor / Health risk / Embryos / Clinical Application / Good Clinical Practice in Clinical Trials / Genetic counseling / Cytogenetics / Clinical Practice / Pregnancy / Mitochondrial DNA / Humans / Genetic Testing / Mutation / Female / Feasibility Studies / Clinical Genetics / Preimplantation genetic diagnosis / Embryo Research / Mitochondrial Diseases / Scientific Research / Minor / Health risk / Embryos / Clinical Application / Good Clinical Practice in Clinical Trials

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Plasma Membrane Cholesterol: A Possible Barrier to Intracellular Oxygen in Normal and Mutant CHO Cells Defective in Cholesterol Metabolism †

Biochemistry / Fluorescence Microscopy / Confocal Microscopy / Lipids / Cell line / Mutation / Cholesterol / Animals / Membrane Lipids / Oxygen / Lipoproteins / Cyclodextrins / Culture Media / Oxygen Consumption / Plasma Membrane / Biochemistry and cell biology / Mutation / Cholesterol / Animals / Membrane Lipids / Oxygen / Lipoproteins / Cyclodextrins / Culture Media / Oxygen Consumption / Plasma Membrane / Biochemistry and cell biology

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