Human Mutation, ISSN 1059-7794, 03/2016, Volume 37, Issue 3, pp. 315 - 323
ABSTRACT The cytochrome P450‐2D6 (CYP2D6) enzyme metabolizes ∼25% of common medications, yet homologous pseudogenes and copy number variants (CNVs) make...
pharmacogenomics | CYP2D6 | gene duplication | single molecule real‐time (SMRT) sequencing | long‐read sequencing | pharmacogenetics | Pacific Biosciences | Pharmacogenetics | Single molecule real-time (SMRT) sequencing | Long-read sequencing | Gene duplication | Pharmacogenomics | ALLELE | DEFECT | CODEINE THERAPY | IDENTIFICATION | long-read sequencing | LOCUS | CYP2C19 GENOTYPES | AMPLIFICATION | single molecule real-time (SMRT) sequencing | GENETICS & HEREDITY | CYP2D6 GENE | DEBRISOQUINE | PHARMACOGENETICS IMPLEMENTATION CONSORTIUM | Cytochrome P-450 CYP2D6 - genetics | Genotype | Gene Frequency - genetics | Humans | Alleles | Nucleotide sequencing | Analysis | Genes | Cytochrome P-450 | DNA sequencing | Cytochrome | Enzymes | Genotype & phenotype | Metabolism | Polymorphism | Index Medicus | single-molecule real-time (SMRT) sequencing
pharmacogenomics | CYP2D6 | gene duplication | single molecule real‐time (SMRT) sequencing | long‐read sequencing | pharmacogenetics | Pacific Biosciences | Pharmacogenetics | Single molecule real-time (SMRT) sequencing | Long-read sequencing | Gene duplication | Pharmacogenomics | ALLELE | DEFECT | CODEINE THERAPY | IDENTIFICATION | long-read sequencing | LOCUS | CYP2C19 GENOTYPES | AMPLIFICATION | single molecule real-time (SMRT) sequencing | GENETICS & HEREDITY | CYP2D6 GENE | DEBRISOQUINE | PHARMACOGENETICS IMPLEMENTATION CONSORTIUM | Cytochrome P-450 CYP2D6 - genetics | Genotype | Gene Frequency - genetics | Humans | Alleles | Nucleotide sequencing | Analysis | Genes | Cytochrome P-450 | DNA sequencing | Cytochrome | Enzymes | Genotype & phenotype | Metabolism | Polymorphism | Index Medicus | single-molecule real-time (SMRT) sequencing
Journal Article
Human Mutation, ISSN 1059-7794, 11/2016, Volume 37, Issue 11, pp. 1215 - 1222
ABSTRACT Acute intermittent porphyria results from hydroxymethylbilane synthase (HMBS) mutations that markedly decrease HMBS enzymatic activity. This dominant...
in silico prediction | disease penetrance | in vitro expression | allele frequency | allele prevalence | MISSENSE VARIANTS | POPULATION | PORPHOBILINOGEN DEAMINASE GENE | STABILITY CHANGES | AMINO-ACID SUBSTITUTIONS | SEQUENCE VARIANTS | CLINICAL CONSEQUENCES | HYDROXYMETHYLBILANE SYNTHASE GENE | GENETICS & HEREDITY | PROTEIN MUTATIONS | WEB SERVER | Genetic Variation | European Continental Ancestry Group - genetics | Computer Simulation | Gene Frequency | Humans | Porphyria, Acute Intermittent - genetics | Female | Male | Penetrance | Porphyria, Acute Intermittent - ethnology | Sequence Analysis, DNA | Porphyria | Career development | Enzymes | Medical research | Algorithms | Gene mutations | Medicine, Experimental | Genes | Mutation
in silico prediction | disease penetrance | in vitro expression | allele frequency | allele prevalence | MISSENSE VARIANTS | POPULATION | PORPHOBILINOGEN DEAMINASE GENE | STABILITY CHANGES | AMINO-ACID SUBSTITUTIONS | SEQUENCE VARIANTS | CLINICAL CONSEQUENCES | HYDROXYMETHYLBILANE SYNTHASE GENE | GENETICS & HEREDITY | PROTEIN MUTATIONS | WEB SERVER | Genetic Variation | European Continental Ancestry Group - genetics | Computer Simulation | Gene Frequency | Humans | Porphyria, Acute Intermittent - genetics | Female | Male | Penetrance | Porphyria, Acute Intermittent - ethnology | Sequence Analysis, DNA | Porphyria | Career development | Enzymes | Medical research | Algorithms | Gene mutations | Medicine, Experimental | Genes | Mutation
Journal Article
ISSN 1359-7345, 11/2015, Volume 51, Issue 97, pp. 17245 - 17248
Hybridization thermodynamics on solid supports are compared with those in solution for two types of hybridization probe, DNA and uncharged morpholino...
Journal Article
Pharmacogenomics, ISSN 1462-2416, 01/2019, Volume 20, Issue 1, pp. 9 - 20
Aim: To comprehensively interrogate CYP2D6 by integrating genotyping, copy number analysis and novel strategies to identify CYP2D6*36 and characterize CYP2D6...
Pharmacogenetics | Copy number variation | Genotyping | MLPA | CYP2D6 | FREQUENCIES | genotyping | DNA REFERENCE MATERIALS | CYP2C19 | LOCUS | CYP2D636 | GENOTYPES | CONSORTIUM CPIC GUIDELINE | copy number variation | GENE | PHARMACOLOGY & PHARMACY | ASHKENAZI | ASSOCIATION | pharmacogenetics
Pharmacogenetics | Copy number variation | Genotyping | MLPA | CYP2D6 | FREQUENCIES | genotyping | DNA REFERENCE MATERIALS | CYP2C19 | LOCUS | CYP2D636 | GENOTYPES | CONSORTIUM CPIC GUIDELINE | copy number variation | GENE | PHARMACOLOGY & PHARMACY | ASHKENAZI | ASSOCIATION | pharmacogenetics
Journal Article
Journal of the American Chemical Society, ISSN 0002-7863, 08/2011, Volume 133, Issue 30, pp. 11588 - 11596
Morpholinos (MOs) are DNA analogues whose uncharged nature can bring fundamental advantages to surface hybridization technologies such as DNA microarrays, by...
GOLD ELECTRODES | LABEL-FREE | PROBE DENSITY | FLUORESCENCE SPECTROSCOPY | PEPTIDE-NUCLEIC-ACID | OLIGONUCLEOTIDE HYBRIDIZATION | SINGLE-STRANDED-DNA | CHEMISTRY, MULTIDISCIPLINARY | SEQUENTIAL ADSORPTION | PLASMON RESONANCE | MELTING CURVES | DNA - chemistry | Nucleic Acid Hybridization | Peptide Nucleic Acids - chemistry | Kinetics | Surface Properties | Morpholines - chemistry | Oligomers | Usage | DNA microarrays | Research | Structure | Nucleic acid hybridization
GOLD ELECTRODES | LABEL-FREE | PROBE DENSITY | FLUORESCENCE SPECTROSCOPY | PEPTIDE-NUCLEIC-ACID | OLIGONUCLEOTIDE HYBRIDIZATION | SINGLE-STRANDED-DNA | CHEMISTRY, MULTIDISCIPLINARY | SEQUENTIAL ADSORPTION | PLASMON RESONANCE | MELTING CURVES | DNA - chemistry | Nucleic Acid Hybridization | Peptide Nucleic Acids - chemistry | Kinetics | Surface Properties | Morpholines - chemistry | Oligomers | Usage | DNA microarrays | Research | Structure | Nucleic acid hybridization
Journal Article
Human Mutation, ISSN 1059-7794, 03/2016, Volume 37, Issue 3, pp. 315 - 323
Journal Article
Chemical Communications: Chem Comm, ISSN 1359-7345, 11/2015, Volume 51, Issue 97, pp. 17245 - 17248
Hybridization thermodynamics on solid supports are compared with those in solution for two types of hybridization probe, DNA and uncharged morpholino...
Thermodynamics | Deoxyribonucleic acid | Oligonucleotides | Affinity | Trends | Strength | Gene sequencing
Thermodynamics | Deoxyribonucleic acid | Oligonucleotides | Affinity | Trends | Strength | Gene sequencing
Journal Article
Chemical Communications, ISSN 1359-7345, 10/2015, Volume 51, Issue 97, pp. 17245 - 17248
Hybridization thermodynamics on solid supports are compared with those in solution for two types of hybridization probe, DNA and uncharged morpholino...
LABEL-FREE | PNA | SPECTROSCOPY | NUCLEIC-ACID | DISCRIMINATION | MICROARRAYS | DNA HYBRIDIZATION | CHEMISTRY, MULTIDISCIPLINARY | IMMOBILIZATION | PLASMON RESONANCE | MELTING CURVES | Molecular Probes | Salts - chemistry | Thermodynamics | Temperature | Surface Properties | Solutions - chemistry
LABEL-FREE | PNA | SPECTROSCOPY | NUCLEIC-ACID | DISCRIMINATION | MICROARRAYS | DNA HYBRIDIZATION | CHEMISTRY, MULTIDISCIPLINARY | IMMOBILIZATION | PLASMON RESONANCE | MELTING CURVES | Molecular Probes | Salts - chemistry | Thermodynamics | Temperature | Surface Properties | Solutions - chemistry
Journal Article
npj Genomic Medicine, ISSN 2056-7944, 12/2018, Volume 3, Issue 1, pp. 3 - 5
Bardet-Biedl syndrome (BBS) is a recessive disorder characterized by heterogeneous clinical manifestations, including truncal obesity, rod-cone dystrophy,...
BARDET-BIEDL-SYNDROME | MUTATIONS | GENE | CILIA | COPY NUMBER | GENETICS & HEREDITY | Mutation
BARDET-BIEDL-SYNDROME | MUTATIONS | GENE | CILIA | COPY NUMBER | GENETICS & HEREDITY | Mutation
Journal Article
BMC Genomics, ISSN 1471-2164, 05/2015, Volume 16, Issue 1, p. 350
Background: DNA methylation has essential roles in transcriptional regulation, imprinting, X chromosome inactivation and other cellular processes, and aberrant...
Third generation sequencing | Pacific Bioscience | Bisulfite sequencing | DNA methylation | Long-read sequencing | Single-molecule real-time (SMRT) sequencing | CpG islands | PCR-BIAS | DESIGN | 5-METHYLCYTOSINE | RESOLUTION | IDENTIFICATION | GENOMES | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | REGIONS | GENETICS & HEREDITY | SCALE | EPIGENOME-WIDE ASSOCIATION | SEQ | Time Factors | Humans | Polymerase Chain Reaction | Cell Line, Tumor | DNA Methylation - drug effects | Sequence Analysis, DNA - methods | Sulfites - pharmacology | Genome, Human - genetics | Genetic research | Genetic transcription | Research | Nucleotide sequencing | Innovations | DNA sequencing | Genetic aspects | Instrument industry | Laws, regulations and rules | Analysis | Biotechnology industry
Third generation sequencing | Pacific Bioscience | Bisulfite sequencing | DNA methylation | Long-read sequencing | Single-molecule real-time (SMRT) sequencing | CpG islands | PCR-BIAS | DESIGN | 5-METHYLCYTOSINE | RESOLUTION | IDENTIFICATION | GENOMES | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | REGIONS | GENETICS & HEREDITY | SCALE | EPIGENOME-WIDE ASSOCIATION | SEQ | Time Factors | Humans | Polymerase Chain Reaction | Cell Line, Tumor | DNA Methylation - drug effects | Sequence Analysis, DNA - methods | Sulfites - pharmacology | Genome, Human - genetics | Genetic research | Genetic transcription | Research | Nucleotide sequencing | Innovations | DNA sequencing | Genetic aspects | Instrument industry | Laws, regulations and rules | Analysis | Biotechnology industry
Journal Article
Human Mutation, ISSN 1059-7794, 11/2016, Volume 37, Issue 11, pp. 1215 - 1222
Journal Article
Analytical Biochemistry, ISSN 0003-2697, 03/2013, Volume 434, Issue 2, pp. 207 - 214
A principal challenge in microarray experiments is to facilitate hybridization between probe strands on the array with complementary target strands from...
Immobilization | PNA | Morpholinos | Microarrays | DNA | Surface hybridization | CHEMISTRY, ANALYTICAL | BIOCHEMISTRY & MOLECULAR BIOLOGY | BIOCHEMICAL RESEARCH METHODS | ARRAYS | PROBES | GLASS | ZIP-CODE MICROARRAY | KINETICS | MISMATCH DISCRIMINATION | DNA SURFACE HYBRIDIZATION | DNA - chemistry | Molecular Probes - chemistry | Oligonucleotide Array Sequence Analysis | DNA - analysis | Surface Properties | Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization | Chemistry Techniques, Analytical - methods | Morpholinos - chemistry | DNA microarrays | Surface active agents | Adsorption | immobilization | surface hybridization | morpholinos | microarrays
Immobilization | PNA | Morpholinos | Microarrays | DNA | Surface hybridization | CHEMISTRY, ANALYTICAL | BIOCHEMISTRY & MOLECULAR BIOLOGY | BIOCHEMICAL RESEARCH METHODS | ARRAYS | PROBES | GLASS | ZIP-CODE MICROARRAY | KINETICS | MISMATCH DISCRIMINATION | DNA SURFACE HYBRIDIZATION | DNA - chemistry | Molecular Probes - chemistry | Oligonucleotide Array Sequence Analysis | DNA - analysis | Surface Properties | Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization | Chemistry Techniques, Analytical - methods | Morpholinos - chemistry | DNA microarrays | Surface active agents | Adsorption | immobilization | surface hybridization | morpholinos | microarrays
Journal Article
01/2014, ISBN 9781321057980
Although technologies based on surface hybridization to DNA monolayers continue to be widely and successfully used, their performance is constrained by the...
Engineering | Chemical engineering | Biomedical engineering
Engineering | Chemical engineering | Biomedical engineering
Dissertation
Clinical Pharmacology & Therapeutics, ISSN 0009-9236, 09/2016, Volume 100, Issue 3, pp. 287 - 294
Interindividual variability in platelet aggregation is common among patients treated with clopidogrel and both high on‐treatment platelet reactivity (HTPR) and...
VARIABILITY | PERCUTANEOUS CORONARY INTERVENTION | PRETREATMENT | PHARMACOLOGY & PHARMACY | SIALIC-ACID | AFRICAN-AMERICANS | WHOLE-EXOME | POLYMORPHISM | GENETIC VARIANT | CYP2C19 | ANTIPLATELET THERAPY | Ticlopidine - pharmacology | Humans | Middle Aged | Cytochrome P-450 CYP2C19 - genetics | Genotype | Male | Galactosyltransferases - genetics | Coronary Artery Disease - drug therapy | Ticlopidine - analogs & derivatives | Aspirin - administration & dosage | Exome | Phenotype | Pilot Projects | Platelet Aggregation Inhibitors - administration & dosage | Platelet Aggregation Inhibitors - pharmacology | Ticlopidine - administration & dosage | Adult | Female | Aged | Blood Platelets - drug effects | Drug Therapy, Combination | Usage | Care and treatment | Exome sequencing | Clopidogrel | Dosage and administration | Research | Diagnosis | Patients | Health aspects | Blood platelet disorders | B4GALT2 | exome sequencing | pharmacogenomics | pharmacodynamics | platelet aggregation
VARIABILITY | PERCUTANEOUS CORONARY INTERVENTION | PRETREATMENT | PHARMACOLOGY & PHARMACY | SIALIC-ACID | AFRICAN-AMERICANS | WHOLE-EXOME | POLYMORPHISM | GENETIC VARIANT | CYP2C19 | ANTIPLATELET THERAPY | Ticlopidine - pharmacology | Humans | Middle Aged | Cytochrome P-450 CYP2C19 - genetics | Genotype | Male | Galactosyltransferases - genetics | Coronary Artery Disease - drug therapy | Ticlopidine - analogs & derivatives | Aspirin - administration & dosage | Exome | Phenotype | Pilot Projects | Platelet Aggregation Inhibitors - administration & dosage | Platelet Aggregation Inhibitors - pharmacology | Ticlopidine - administration & dosage | Adult | Female | Aged | Blood Platelets - drug effects | Drug Therapy, Combination | Usage | Care and treatment | Exome sequencing | Clopidogrel | Dosage and administration | Research | Diagnosis | Patients | Health aspects | Blood platelet disorders | B4GALT2 | exome sequencing | pharmacogenomics | pharmacodynamics | platelet aggregation
Journal Article
Analytical Biochemistry, ISSN 0003-2697, 2006, Volume 351, Issue 1, pp. 26 - 35
Aberrant DNA methylation of CpG islands is among the earliest and most frequent alterations in cancer. It is of great importance to develop simple and...
Array | Molecular markers | Nylon membrane | IGFBP7 gene | Methylation analysis | CHEMISTRY, ANALYTICAL | HYPERMETHYLATION | MICROARRAY | BIOCHEMISTRY & MOLECULAR BIOLOGY | BIOCHEMICAL RESEARCH METHODS | P16(INK4A) | nylon membrane | BREAST-CANCER CELLS | HIGH-SENSITIVITY | array | GENES | LEUKEMIA | PROMOTER | methylation analysis | molecular markers | CPG ISLANDS | TUMORIGENESIS | DNA - chemistry | DNA Methylation | Nucleic Acid Hybridization | Base Sequence | Polymerase Chain Reaction | DNA Primers | Sulfites - chemistry | Sulfites | DNA microarrays | Nylon | DNA | Oncology, Experimental | Genetic research | Research | Methylation | Cancer
Array | Molecular markers | Nylon membrane | IGFBP7 gene | Methylation analysis | CHEMISTRY, ANALYTICAL | HYPERMETHYLATION | MICROARRAY | BIOCHEMISTRY & MOLECULAR BIOLOGY | BIOCHEMICAL RESEARCH METHODS | P16(INK4A) | nylon membrane | BREAST-CANCER CELLS | HIGH-SENSITIVITY | array | GENES | LEUKEMIA | PROMOTER | methylation analysis | molecular markers | CPG ISLANDS | TUMORIGENESIS | DNA - chemistry | DNA Methylation | Nucleic Acid Hybridization | Base Sequence | Polymerase Chain Reaction | DNA Primers | Sulfites - chemistry | Sulfites | DNA microarrays | Nylon | DNA | Oncology, Experimental | Genetic research | Research | Methylation | Cancer
Journal Article
01/2014, ISBN 9781321057980, Volume 75, Issue 11
Although technologies based on surface hybridization to DNA monolayers continue to be widely and successfully used, their performance is constrained by the...
Backbone | Analytical chemistry | Thermodynamics | Deoxyribonucleic acid | Fluorescence | Affinity | Gene expression | Molybdenum
Backbone | Analytical chemistry | Thermodynamics | Deoxyribonucleic acid | Fluorescence | Affinity | Gene expression | Molybdenum
Book Chapter
01/2014, ISBN 9781321057980, Volume 75, Issue 11
Although technologies based on surface hybridization to DNA monolayers continue to be widely and successfully used, their performance is constrained by the...
Book Chapter
05/2015
Provided are methods and devices for detection of unlabeled nucleic acids. The detection methods are based on change of solubility of hydrophobic probes upon...
WINE | MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS | ENZYMOLOGY | COMPOSITIONS OR TEST PAPERS THEREFOR | MICROBIOLOGY | BEER | MUTATION OR GENETIC ENGINEERING | SPIRITS | METALLURGY | PROCESSES OF PREPARING SUCH COMPOSITIONS | BIOCHEMISTRY | CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES | CHEMISTRY | VINEGAR
WINE | MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS | ENZYMOLOGY | COMPOSITIONS OR TEST PAPERS THEREFOR | MICROBIOLOGY | BEER | MUTATION OR GENETIC ENGINEERING | SPIRITS | METALLURGY | PROCESSES OF PREPARING SUCH COMPOSITIONS | BIOCHEMISTRY | CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES | CHEMISTRY | VINEGAR
Patent
Journal of Biochemical and Biophysical Methods, ISSN 0165-022X, 2006, Volume 66, Issue 1, pp. 33 - 43
Aberrant DNA methylation of CpG sites is among the earliest and most frequent alterations in cancer. It is of great importance to develop simple,...
Molecular markers | IGFBP7 | Dual-color fluorescence hybridization | Microarray | Methylation analysis | DNA METHYLATION | dual-color fluorescence hybridization | BIOCHEMISTRY & MOLECULAR BIOLOGY | BIOCHEMICAL RESEARCH METHODS | P16(INK4A) | ABERRANT METHYLATION | BREAST-CANCER CELLS | microarray | BIOPHYSICS | GENES | methylation analysis | molecular markers | CPG ISLANDS | Molecular Probes | Nucleic Acid Hybridization - methods | Oligonucleotide Array Sequence Analysis - methods | Humans | Fluorescence | Molecular Sequence Data | Breast Neoplasms - chemistry | DNA Methylation | Breast Neoplasms - genetics | Base Sequence | Female | DNA, Neoplasm - analysis | Tumor Cells, Cultured | DNA microarrays | Methylation | Analysis
Molecular markers | IGFBP7 | Dual-color fluorescence hybridization | Microarray | Methylation analysis | DNA METHYLATION | dual-color fluorescence hybridization | BIOCHEMISTRY & MOLECULAR BIOLOGY | BIOCHEMICAL RESEARCH METHODS | P16(INK4A) | ABERRANT METHYLATION | BREAST-CANCER CELLS | microarray | BIOPHYSICS | GENES | methylation analysis | molecular markers | CPG ISLANDS | Molecular Probes | Nucleic Acid Hybridization - methods | Oligonucleotide Array Sequence Analysis - methods | Humans | Fluorescence | Molecular Sequence Data | Breast Neoplasms - chemistry | DNA Methylation | Breast Neoplasms - genetics | Base Sequence | Female | DNA, Neoplasm - analysis | Tumor Cells, Cultured | DNA microarrays | Methylation | Analysis
Journal Article
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