DNA mutational analysis

TRABAJO COLABORATIVO 1 LOGISTICA INTEGRAL

Genetics / Hematology / Colombia / Population Genetics / Adolescent / Humans / Child / Deep Vein Thrombosis / Resistance / Female / Male / cerebral Venous sinus thrombosis / American / Latin American / Risk factors / Aged / Middle Aged / Adult / Risk Factors / Venous thromboembolism / Case Control Study / Prothrombin / Case Control Studies / DNA mutational analysis / Humans / Child / Deep Vein Thrombosis / Resistance / Female / Male / cerebral Venous sinus thrombosis / American / Latin American / Risk factors / Aged / Middle Aged / Adult / Risk Factors / Venous thromboembolism / Case Control Study / Prothrombin / Case Control Studies / DNA mutational analysis

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Cryptic Exon Activation by Disruption of Exon Splice Enhancer: NOVEL MECHANISM CAUSING 3-METHYLCROTONYL-CoA CARBOXYLASE DEFICIENCY

Biological Chemistry / Biological Sciences / Humans / Mutation / Alternative splicing / Skin / CHEMICAL SCIENCES / Consanguinity / Alternative Splicing / DNA mutational analysis / Skin / CHEMICAL SCIENCES / Consanguinity / Alternative Splicing / DNA mutational analysis

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Biochemical characterization of recombinant serotonin N-acetyltransferase

Engineering / Biochemistry / Thermodynamics / Technology / Catalysis / Kinetics / Virology / Calcium / Biological Chemistry / HIV / Aspergillus / Biological Sciences / Saccharomyces cerevisiae / PCR / Ubiquitin / Plant Genome Project / Tuberculosis / Humans / Sequence alignment / Mycobacterium tuberculosis / Escherichia coli / Mice / CPM / Female / Animals / Male / Glutathione / Physical sciences / Candida albicans / Phosphorylation / Proteins / Capsid / Affinity chromatography / SALT TOLERANCE / Enzyme / Casein Kinase 2 / Cattle / Molecular cloning / Rats / HeLa cells / Substrate Specificity / Pineal / Protein Conformation / Protein Kinase / Amino Acid Sequence / Base Sequence / Ribonucleoproteins / Amino Acid Substitution Rates / Recombinant Protein / Recombinant Proteins / Biological Macromolecules / Hydrogen-Ion Concentration / Asparagine / Fusion Protein / DNA binding proteins / Site-directed Mutagenesis / Sodium Chloride / Biochemistry and cell biology / Dimerization / Okadaic acid / Molecular Sequence Data / DNA mutational analysis / Kinetics / Virology / Calcium / Biological Chemistry / HIV / Aspergillus / Biological Sciences / Saccharomyces cerevisiae / PCR / Ubiquitin / Plant Genome Project / Tuberculosis / Humans / Sequence alignment / Mycobacterium tuberculosis / Escherichia coli / Mice / CPM / Female / Animals / Male / Glutathione / Physical sciences / Candida albicans / Phosphorylation / Proteins / Capsid / Affinity chromatography / SALT TOLERANCE / Enzyme / Casein Kinase 2 / Cattle / Molecular cloning / Rats / HeLa cells / Substrate Specificity / Pineal / Protein Conformation / Protein Kinase / Amino Acid Sequence / Base Sequence / Ribonucleoproteins / Amino Acid Substitution Rates / Recombinant Protein / Recombinant Proteins / Biological Macromolecules / Hydrogen-Ion Concentration / Asparagine / Fusion Protein / DNA binding proteins / Site-directed Mutagenesis / Sodium Chloride / Biochemistry and cell biology / Dimerization / Okadaic acid / Molecular Sequence Data / DNA mutational analysis

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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

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Comprehensive identification and characterization of diallelic insertion-deletion polymorphisms in 330 human candidate genes

Polymorphism / Computational Biology / Population Genetics / Systems Biology / Calcium / System Biology / Gene expression / Low Frequency / Biological Sciences / Molecular / Association study / Cercopithecus aethiops / Cell line / Humans / Genetic Testing / Microarray / Mice / Animals / Human Molecular Genetics / Gene Network / Genome / Genes / Integrated Approach / Human Genome / Myocardium / Correlation Analysis / Linkage Disequilibrium / Base Sequence / In Silico / Subcellular Fractions / Calcium Binding Protein / Protein Transport / Allele Frequency / Microarray Data / DNA mutational analysis / System Biology / Gene expression / Low Frequency / Biological Sciences / Molecular / Association study / Cercopithecus aethiops / Cell line / Humans / Genetic Testing / Microarray / Mice / Animals / Human Molecular Genetics / Gene Network / Genome / Genes / Integrated Approach / Human Genome / Myocardium / Correlation Analysis / Linkage Disequilibrium / Base Sequence / In Silico / Subcellular Fractions / Calcium Binding Protein / Protein Transport / Allele Frequency / Microarray Data / DNA mutational analysis

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Loss of Prion Protein in a Transgenic Model of Amyotrophic Lateral Sclerosis

Cognitive Science / Protein Folding / Skeletal muscle biology / Motor neuron / Transgenic Mice / Amyotrophic Lateral Sclerosis / Molecular chaperones / Molecular and cellular biology / Genetic Testing / Mutation / Mice / Animals / Spinal Cord / Superoxide Dismutase / Western blot / Sciatic Nerve / Cellular and Molecular Neuroscience / Enzymatic Activity / Neurosciences / Down-Regulation / Prion Protein / DNA mutational analysis / Amyotrophic Lateral Sclerosis / Molecular chaperones / Molecular and cellular biology / Genetic Testing / Mutation / Mice / Animals / Spinal Cord / Superoxide Dismutase / Western blot / Sciatic Nerve / Cellular and Molecular Neuroscience / Enzymatic Activity / Neurosciences / Down-Regulation / Prion Protein / DNA mutational analysis

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A novel pex2 mutant: catalase-deficient but temperature-sensitive PTS1 and PTS2 import

Genetics / Membrane Proteins / Western blotting / Cell line / Mutation / Ultraviolet / Animals / Temperature / Catalase / Plasmids / Green Fluorescent Protein / Phenotype / Rats / Amino Acid Profile / Transfection / Protein Transport / Temperature Sensitive Polymer / Biochemistry and cell biology / DNA mutational analysis / Ultraviolet / Animals / Temperature / Catalase / Plasmids / Green Fluorescent Protein / Phenotype / Rats / Amino Acid Profile / Transfection / Protein Transport / Temperature Sensitive Polymer / Biochemistry and cell biology / DNA mutational analysis

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The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3

Humans / Child / Mutation / Young Adult / Infant / Clinical Sciences / Adult / DNA mutational analysis / Clinical Sciences / Adult / DNA mutational analysis

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Urinary dopamine in aromatic L-amino acid decarboxylase deficiency: The unsolved paradox

Molecular Genetics / Adolescent / Dopamine / Humans / Child / Female / Animals / Male / Genetic Association Studies / Young Adult / Infant / Clinical Sciences / Rats / Adult / Tyramine / Amino Acid Profile / Metabolic pathway / Tyrosine / DNA mutational analysis / Child preschool / Female / Animals / Male / Genetic Association Studies / Young Adult / Infant / Clinical Sciences / Rats / Adult / Tyramine / Amino Acid Profile / Metabolic pathway / Tyrosine / DNA mutational analysis / Child preschool

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Deficiency of dolichyl-P-Man:Man7GlcNAc2-PP-dolichyl mannosyltransferase causes congenital disorder of glycosylation type Ig

Biological Sciences / Humans / Female / Endoplasmic Reticulum / Transferrin / Biochemical / Sodium Dodecyl Sulfate-Polyacrylamide Gel Electrophoresis / Phenotype / Glycosylation / High Pressure Liquid Chromatography / CHEMICAL SCIENCES / Site-directed Mutagenesis / Oligosaccharides / DNA mutational analysis / Biochemical / Sodium Dodecyl Sulfate-Polyacrylamide Gel Electrophoresis / Phenotype / Glycosylation / High Pressure Liquid Chromatography / CHEMICAL SCIENCES / Site-directed Mutagenesis / Oligosaccharides / DNA mutational analysis

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Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage

RNA / Gene expression / Molecular Mechanics / Biological Sciences / Humans / Child / Mutation / Cartilage / Human Molecular Genetics / Degradation / Transcription termination / Osteocytes / Growth Plate / Nonsense Mutation / Tissue Specificity / DNA mutational analysis / Child / Mutation / Cartilage / Human Molecular Genetics / Degradation / Transcription termination / Osteocytes / Growth Plate / Nonsense Mutation / Tissue Specificity / DNA mutational analysis

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A double mutant [N543H+2393del9] allele in the LDL receptor gene in familial hypercholesterolemia: effect on plasma cholesterol levels and cardiovascular disease

Genetics / Cardiovascular disease / Human / DNA / Humans / Mutation / Cholesterol / Female / Male / Pedigree / Phenotype / Triglycerides / Clinical Sciences / Aged / Middle Aged / Genotype / Adult / Cardiovascular Diseases / Familial Hypercholesterolemia / Amino Acid Substitution Rates / DNA mutational analysis / Mutation / Cholesterol / Female / Male / Pedigree / Phenotype / Triglycerides / Clinical Sciences / Aged / Middle Aged / Genotype / Adult / Cardiovascular Diseases / Familial Hypercholesterolemia / Amino Acid Substitution Rates / DNA mutational analysis

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Different mutation patterns of mitochondrial DNA displacement-loop in hepatocellular carcinomas induced by N-nitrosodiethylamine and a choline-deficient l-amino acid-defined diet in rats

Polymorphism / Mitochondrial DNA / Mutation / Animal Feed / Animals / Male / Hepatocellular Carcinoma / Polymerase Chain Reaction / Biochemical / Amino Acids / Rats / Amino Acid Profile / Choline / Diethylnitrosamine / Biochemistry and cell biology / DNA mutational analysis / Male / Hepatocellular Carcinoma / Polymerase Chain Reaction / Biochemical / Amino Acids / Rats / Amino Acid Profile / Choline / Diethylnitrosamine / Biochemistry and cell biology / DNA mutational analysis

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Succinyl-CoA Ligase Deficiency: A Mitochondrial Hepatoencephalomyopathy

Endocrinology / Genetics / Functional Analysis / Cardiology / Hematology / Nephrology / Neurology / Oncology / Pediatrics / Pulmonology / Rheumatology / Epidemiology / Immunology / Nutrition / Magnetic Resonance Imaging / Mitochondria / Public Health / Liver diseases / Brain / Allergy / Mitochondrial DNA / Humans / Sensorineural Hearing Loss / Mutation / Female / Infant / Pediatric / Respiratory Failure / Newborn Infant / Mitochondrial Diseases / Deficiency / Enzyme activity / Amino Acid Profile / Fetus / Liver Failure / Amino Acid Sequence / Base Sequence / Deficit / Laboratory Tests / Glutamic Acid / Translation initiation / Organic Acid / Molecular Sequence Data / DNA mutational analysis / Nephrology / Neurology / Oncology / Pediatrics / Pulmonology / Rheumatology / Epidemiology / Immunology / Nutrition / Magnetic Resonance Imaging / Mitochondria / Public Health / Liver diseases / Brain / Allergy / Mitochondrial DNA / Humans / Sensorineural Hearing Loss / Mutation / Female / Infant / Pediatric / Respiratory Failure / Newborn Infant / Mitochondrial Diseases / Deficiency / Enzyme activity / Amino Acid Profile / Fetus / Liver Failure / Amino Acid Sequence / Base Sequence / Deficit / Laboratory Tests / Glutamic Acid / Translation initiation / Organic Acid / Molecular Sequence Data / DNA mutational analysis

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Succinyl-CoA Ligase Deficiency: A Mitochondrial Hepatoencephalomyopathy

Endocrinology / Genetics / Functional Analysis / Cardiology / Hematology / Nephrology / Neurology / Oncology / Pediatrics / Pulmonology / Rheumatology / Epidemiology / Immunology / Nutrition / Magnetic Resonance Imaging / Mitochondria / Public Health / Liver diseases / Brain / Allergy / Mitochondrial DNA / Humans / Sensorineural Hearing Loss / Mutation / Female / Infant / Pediatric / Respiratory Failure / Newborn Infant / Mitochondrial Diseases / Deficiency / Enzyme activity / Amino Acid Profile / Fetus / Liver Failure / Amino Acid Sequence / Base Sequence / Deficit / Laboratory Tests / Glutamic Acid / Translation initiation / Organic Acid / Molecular Sequence Data / DNA mutational analysis / Nephrology / Neurology / Oncology / Pediatrics / Pulmonology / Rheumatology / Epidemiology / Immunology / Nutrition / Magnetic Resonance Imaging / Mitochondria / Public Health / Liver diseases / Brain / Allergy / Mitochondrial DNA / Humans / Sensorineural Hearing Loss / Mutation / Female / Infant / Pediatric / Respiratory Failure / Newborn Infant / Mitochondrial Diseases / Deficiency / Enzyme activity / Amino Acid Profile / Fetus / Liver Failure / Amino Acid Sequence / Base Sequence / Deficit / Laboratory Tests / Glutamic Acid / Translation initiation / Organic Acid / Molecular Sequence Data / DNA mutational analysis

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Succinate Dehydrogenase (SDH)-deficient Renal Carcinoma

Immunohistochemistry / Adolescent / Humans / Female / Renal cell Carcinoma / Male / Polymerase Chain Reaction / Young Adult / Clinical Sciences / Aged / Middle Aged / Adult / Succinate Dehydrogenase / DNA mutational analysis / Male / Polymerase Chain Reaction / Young Adult / Clinical Sciences / Aged / Middle Aged / Adult / Succinate Dehydrogenase / DNA mutational analysis

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