Nature Genetics, ISSN 1061-4036, 04/2012, Volume 44, Issue 4, pp. 376 - 378
By exome sequencing, we found de novo SMARCB1 mutations in two of five individuals with typical Coffin-Siris syndrome (CSS), a rare autosomal dominant anomaly...
SCHWANNOMATOSIS | SMARCB1 | GENE | CANCER | GENETICS & HEREDITY | Face - abnormalities | Humans | Micrognathism - genetics | Cells, Cultured | Male | DNA Copy Number Variations - genetics | Mutation, Missense | Neck - abnormalities | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Sequence Analysis, DNA | Chromosomal Proteins, Non-Histone - genetics | Intellectual Disability - genetics | Exome | SMARCB1 Protein | Hand Deformities, Congenital - genetics | Female | Nuclear Proteins - genetics | DNA Helicases - genetics | Abnormalities, Multiple - genetics | Physiological aspects | Chromatin | Genetic aspects | Research | Gene mutations | Coffin-Siris syndrome | Proteins | Science | Genetics | Mutation
SCHWANNOMATOSIS | SMARCB1 | GENE | CANCER | GENETICS & HEREDITY | Face - abnormalities | Humans | Micrognathism - genetics | Cells, Cultured | Male | DNA Copy Number Variations - genetics | Mutation, Missense | Neck - abnormalities | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Sequence Analysis, DNA | Chromosomal Proteins, Non-Histone - genetics | Intellectual Disability - genetics | Exome | SMARCB1 Protein | Hand Deformities, Congenital - genetics | Female | Nuclear Proteins - genetics | DNA Helicases - genetics | Abnormalities, Multiple - genetics | Physiological aspects | Chromatin | Genetic aspects | Research | Gene mutations | Coffin-Siris syndrome | Proteins | Science | Genetics | Mutation
Journal Article
PLoS ONE, ISSN 1932-6203, 07/2018, Volume 13, Issue 7, p. e0201260
Caffeine has been considered a neuroprotective agent against Parkinson’s disease (PD). Recent metabolomic analysis showed that levels of caffeine and its...
Neuroprotection | Immunoassay | Parkinson's disease | Laboratories | Parkinsons disease | Metabolites | Neurodegeneration | Monitoring | Movement disorders | Caffeine | Adenosine | Neurodegenerative diseases | Disease control | Patients | Neurological diseases | Medicine | Studies | Neurology | Hospitals | Pharmacy | Biomarkers | Scientific imaging | Diagnostic systems | Alzheimers disease | Theophylline | Dementia
Neuroprotection | Immunoassay | Parkinson's disease | Laboratories | Parkinsons disease | Metabolites | Neurodegeneration | Monitoring | Movement disorders | Caffeine | Adenosine | Neurodegenerative diseases | Disease control | Patients | Neurological diseases | Medicine | Studies | Neurology | Hospitals | Pharmacy | Biomarkers | Scientific imaging | Diagnostic systems | Alzheimers disease | Theophylline | Dementia
Journal Article
Allergology International, ISSN 1323-8930, 01/2018, Volume 67, Issue 1, pp. 103 - 108
Atopic dermatitis (AD) is exacerbated by sweating, and the skin of most patients with AD are resided by fungi. Recently, MGL_1304 produced by was identified as...
Sweat allergy | Malassezia | MGL_1304 | Atopic dermatitis | Homologs | HEALTHY-SUBJECTS | IGE | MALASSEZIA MICROFLORA | CHOLINERGIC URTICARIA | IMMUNOLOGY | IDENTIFICATION | SWEAT | MOLECULAR ANALYSIS | DISEASES | ALLERGY | SKIN
Sweat allergy | Malassezia | MGL_1304 | Atopic dermatitis | Homologs | HEALTHY-SUBJECTS | IGE | MALASSEZIA MICROFLORA | CHOLINERGIC URTICARIA | IMMUNOLOGY | IDENTIFICATION | SWEAT | MOLECULAR ANALYSIS | DISEASES | ALLERGY | SKIN
Journal Article
PLoS ONE, ISSN 1932-6203, 11/2017, Volume 12, Issue 11, p. e0188802
Down syndrome (DS) is the most prevalent chromosomal abnormality. Early-onset dementia with the pathology of Alzheimer's disease (AD) frequently develops in...
BIOMARKERS | MORTALITY | DEMENTIA | ALZHEIMERS-DISEASE | MULTIDISCIPLINARY SCIENCES | PATHOLOGY | REGULATED KINASE 1A | PROTEINS | Advertising executives | Down syndrome | PET imaging | Alzheimer's disease
BIOMARKERS | MORTALITY | DEMENTIA | ALZHEIMERS-DISEASE | MULTIDISCIPLINARY SCIENCES | PATHOLOGY | REGULATED KINASE 1A | PROTEINS | Advertising executives | Down syndrome | PET imaging | Alzheimer's disease
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2016, Volume 11, Issue 1, p. e0147574
The COQ2 gene encodes an essential enzyme for biogenesis, coenzyme Q10 (CoQ10). Recessive mutations in this gene have recently been identified in families with...
DIAGNOSIS | MULTIDISCIPLINARY SCIENCES | PHENOTYPE | MUSCLE | UBIQUINONE | SPECTRUM | FIBROBLASTS | DEFICIENCY | Parkinson Disease - complications | Demography | Follow-Up Studies | Multiple System Atrophy - pathology | Cholesterol - blood | Humans | Middle Aged | Ubiquinone - analogs & derivatives | Male | Multiple System Atrophy - complications | Risk | Ubiquinone - genetics | Biomarkers - blood | Chromatography, High Pressure Liquid | Case-Control Studies | Brain - metabolism | Ubiquinone - blood | Adult | Female | Multiple System Atrophy - blood | Aged | Atrophy | Care and treatment | Genetic aspects | Research | Brain | Medical research | Disease | Laboratories | Research & development--R&D | COQ2 gene | Disease control | Patients | Cholesterol | Medicine | Serum levels | Neurology | Brain research | Coenzyme Q10 | Fibroblasts | Biomarkers | Evolution | Mutation | Geriatrics | Research & development | R&D
DIAGNOSIS | MULTIDISCIPLINARY SCIENCES | PHENOTYPE | MUSCLE | UBIQUINONE | SPECTRUM | FIBROBLASTS | DEFICIENCY | Parkinson Disease - complications | Demography | Follow-Up Studies | Multiple System Atrophy - pathology | Cholesterol - blood | Humans | Middle Aged | Ubiquinone - analogs & derivatives | Male | Multiple System Atrophy - complications | Risk | Ubiquinone - genetics | Biomarkers - blood | Chromatography, High Pressure Liquid | Case-Control Studies | Brain - metabolism | Ubiquinone - blood | Adult | Female | Multiple System Atrophy - blood | Aged | Atrophy | Care and treatment | Genetic aspects | Research | Brain | Medical research | Disease | Laboratories | Research & development--R&D | COQ2 gene | Disease control | Patients | Cholesterol | Medicine | Serum levels | Neurology | Brain research | Coenzyme Q10 | Fibroblasts | Biomarkers | Evolution | Mutation | Geriatrics | Research & development | R&D
Journal Article
Journal of the Neurological Sciences, ISSN 0022-510X, 02/2020, Volume 409, p. 116579
Journal Article
Internal Medicine, ISSN 0918-2918, 2018, Volume 57, Issue 17, pp. 2479 - 2487
Objective We investigated a novel diagnostic scoring system to differentiate Legionella pneumophila pneumonia from Streptococcus pneumoniae pneumonia. Methods...
hyponatremia | Legionella pneumophila pneumonia | diagnostic scoring system | Diagnostic scoring system | Hyponatremia | MEDICINE, GENERAL & INTERNAL | LEGIONNAIRES-DISEASE | Community-Acquired Infections - diagnosis | Pneumonia, Pneumococcal - microbiology | Pneumonia, Pneumococcal - blood | Legionnaires' Disease - diagnosis | Humans | Middle Aged | Pneumonia, Pneumococcal - diagnosis | Legionella pneumophila | Male | Biomarkers - blood | Sodium - blood | Streptococcus pneumoniae | C-Reactive Protein - metabolism | L-Lactate Dehydrogenase - blood | Bradycardia - etiology | Sensitivity and Specificity | Aged, 80 and over | Adult | Female | Aged | Legionnaires' Disease - microbiology | Retrospective Studies | Legionnaires' Disease - blood | Pneumonia | Statistical analysis | C-reactive protein | Markers | Scoring | Lactate dehydrogenase | Dehydration | Multivariate analysis | L-Lactate dehydrogenase | Streptococcus infections | Confidence intervals | Sensitivity | Bradycardia | Streptococcus | Sodium | Blood pressure | Diagnostic systems | Lactic acid | Legionnaires' disease bacterium | Original
hyponatremia | Legionella pneumophila pneumonia | diagnostic scoring system | Diagnostic scoring system | Hyponatremia | MEDICINE, GENERAL & INTERNAL | LEGIONNAIRES-DISEASE | Community-Acquired Infections - diagnosis | Pneumonia, Pneumococcal - microbiology | Pneumonia, Pneumococcal - blood | Legionnaires' Disease - diagnosis | Humans | Middle Aged | Pneumonia, Pneumococcal - diagnosis | Legionella pneumophila | Male | Biomarkers - blood | Sodium - blood | Streptococcus pneumoniae | C-Reactive Protein - metabolism | L-Lactate Dehydrogenase - blood | Bradycardia - etiology | Sensitivity and Specificity | Aged, 80 and over | Adult | Female | Aged | Legionnaires' Disease - microbiology | Retrospective Studies | Legionnaires' Disease - blood | Pneumonia | Statistical analysis | C-reactive protein | Markers | Scoring | Lactate dehydrogenase | Dehydration | Multivariate analysis | L-Lactate dehydrogenase | Streptococcus infections | Confidence intervals | Sensitivity | Bradycardia | Streptococcus | Sodium | Blood pressure | Diagnostic systems | Lactic acid | Legionnaires' disease bacterium | Original
Journal Article
PLOS ONE, ISSN 1932-6203, 07/2018, Volume 13, Issue 7, p. e0201260
Caffeine has been considered a neuroprotective agent against Parkinson's disease (PD). Recent metabolomic analysis showed that levels of caffeine and its...
CRITERIA | MULTIDISCIPLINARY SCIENCES | CSF | CAFFEINE | VALIDATION | TIME | MODEL | NEUROPROTECTION | PROGRESSION | Biomarkers - metabolism | Caffeine - metabolism | Humans | Middle Aged | Male | Biomarkers - blood | Theophylline - metabolism | Theophylline - blood | Pilot Projects | Aged, 80 and over | Parkinson Disease - diagnosis | Adult | Central Nervous System Stimulants - metabolism | Female | Aged | Parkinson Disease - metabolism | Parkinson Disease - blood | Parkinson's disease | Analysis | Drug utilization | Research | Diagnosis | Biological markers | Theophylline
CRITERIA | MULTIDISCIPLINARY SCIENCES | CSF | CAFFEINE | VALIDATION | TIME | MODEL | NEUROPROTECTION | PROGRESSION | Biomarkers - metabolism | Caffeine - metabolism | Humans | Middle Aged | Male | Biomarkers - blood | Theophylline - metabolism | Theophylline - blood | Pilot Projects | Aged, 80 and over | Parkinson Disease - diagnosis | Adult | Central Nervous System Stimulants - metabolism | Female | Aged | Parkinson Disease - metabolism | Parkinson Disease - blood | Parkinson's disease | Analysis | Drug utilization | Research | Diagnosis | Biological markers | Theophylline
Journal Article
PLoS ONE, ISSN 1932-6203, 04/2015, Volume 10, Issue 4, p. e0123162
There is substantial biochemical, pathological, and genetic evidence that alpha-synuclein (Asyn) is a principal molecule in the pathogenesis of Parkinson...
DRUG-NAIVE PATIENTS | MULTIPLE SYSTEM ATROPHY | NERVOUS-SYSTEM | DEMENTIA | PROTEIN | MULTIDISCIPLINARY SCIENCES | ELEVATED LEVELS | CSF | PATHOLOGY | CEREBROSPINAL-FLUID | LEWY BODIES | alpha-Synuclein - blood | Enzyme-Linked Immunosorbent Assay | Parkinson Disease - immunology | Humans | Middle Aged | Immunoblotting | Male | Antibodies, Heterophile - immunology | Biomarkers - blood | Antibodies, Heterophile - blood | Aged, 80 and over | Parkinson Disease - diagnosis | Adult | Female | Aged | Parkinson Disease - blood
DRUG-NAIVE PATIENTS | MULTIPLE SYSTEM ATROPHY | NERVOUS-SYSTEM | DEMENTIA | PROTEIN | MULTIDISCIPLINARY SCIENCES | ELEVATED LEVELS | CSF | PATHOLOGY | CEREBROSPINAL-FLUID | LEWY BODIES | alpha-Synuclein - blood | Enzyme-Linked Immunosorbent Assay | Parkinson Disease - immunology | Humans | Middle Aged | Immunoblotting | Male | Antibodies, Heterophile - immunology | Biomarkers - blood | Antibodies, Heterophile - blood | Aged, 80 and over | Parkinson Disease - diagnosis | Adult | Female | Aged | Parkinson Disease - blood
Journal Article
Brain & Development, ISSN 0387-7604, 2015, Volume 38, Issue 3, pp. 293 - 301
Abstract Introduction An increasing number of adult patients have been diagnosed with fatty acid β-oxidation disorders with the rising use of diagnostic...
Neurology | Adult onset | Serum acylcarnitine | Multiple acyl-CoA dehydrogenase deficiency (glutaric acidemia type II) | Immunoblotting | In vitro probe acylcarnitine assay | Myopathy | ETFDH MUTATION | COA DEHYDROGENASE-DEFICIENCY | ACYLCARNITINE PROFILES | TANDEM MASS-SPECTROMETRY | MULTIPLE ACYL-COENZYME | ACIDURIA TYPE-II | RHABDOMYOLYSIS | CLINICAL NEUROLOGY | IN-VITRO | BETA-OXIDATION DISORDERS | CULTURED FIBROBLASTS | Multiple Acyl Coenzyme A Dehydrogenase Deficiency - blood | Age Factors | Humans | Carnitine - blood | Muscle Weakness - blood | Male | Muscular Diseases - pathology | Muscular Diseases - blood | Multiple Acyl Coenzyme A Dehydrogenase Deficiency - pathology | Muscle Weakness - pathology | Adult | Carnitine - analogs & derivatives | Multiple Acyl Coenzyme A Dehydrogenase Deficiency - metabolism | Pediatrics | Fatty acids | Investigations
Neurology | Adult onset | Serum acylcarnitine | Multiple acyl-CoA dehydrogenase deficiency (glutaric acidemia type II) | Immunoblotting | In vitro probe acylcarnitine assay | Myopathy | ETFDH MUTATION | COA DEHYDROGENASE-DEFICIENCY | ACYLCARNITINE PROFILES | TANDEM MASS-SPECTROMETRY | MULTIPLE ACYL-COENZYME | ACIDURIA TYPE-II | RHABDOMYOLYSIS | CLINICAL NEUROLOGY | IN-VITRO | BETA-OXIDATION DISORDERS | CULTURED FIBROBLASTS | Multiple Acyl Coenzyme A Dehydrogenase Deficiency - blood | Age Factors | Humans | Carnitine - blood | Muscle Weakness - blood | Male | Muscular Diseases - pathology | Muscular Diseases - blood | Multiple Acyl Coenzyme A Dehydrogenase Deficiency - pathology | Muscle Weakness - pathology | Adult | Carnitine - analogs & derivatives | Multiple Acyl Coenzyme A Dehydrogenase Deficiency - metabolism | Pediatrics | Fatty acids | Investigations
Journal Article
Metabolism: Clinical and Experimental, ISSN 0026-0495, 07/2012, Volume 61, Issue 7, pp. 944 - 953
Type 2 diabetes mellitus is frequently accompanied by fatty liver/nonalcoholic fatty liver disease. Hence, accumulation of lipids in the liver is considered to...
Journal Article
Journal of Toxicologic Pathology, ISSN 0914-9198, 2018, Volume 31, Issue 3, pp. 169 - 178
Despite its antimicrobial activity, nitrofurantoin (NFT) is a renal carcinogen in rats. Oxidative stress induced by reduction of the nitro group of NFT may...
kidney | in vivo mutagenicity | NRF2 | nitrofurantoin | oxidative stress | Oxidative stress | Nitrofurantoin | Nrf2 | In vivo mutagenicity | Kidney | ENVIRONMENTAL-POLLUTANT | PENTACHLOROPHENOL | PREVENTION | MECHANISMS | PATHOLOGY | CARCINOGENESIS | DNA | GENES | TOXICOLOGY | HEPATOTOXICITY | CYTOTOXICITY | Antimicrobial activity | Kidneys | DNA damage | Genotoxicity | Carcinogenesis | nitrofurans | Guanine | Organic chemistry | Reduction | Carcinogens | Reporter gene | Mutant frequency | 8-Hydroxydeoxyguanosine | Point mutation | Mice | Oxidation | Mutation | Deoxyribonucleic acid--DNA | Original
kidney | in vivo mutagenicity | NRF2 | nitrofurantoin | oxidative stress | Oxidative stress | Nitrofurantoin | Nrf2 | In vivo mutagenicity | Kidney | ENVIRONMENTAL-POLLUTANT | PENTACHLOROPHENOL | PREVENTION | MECHANISMS | PATHOLOGY | CARCINOGENESIS | DNA | GENES | TOXICOLOGY | HEPATOTOXICITY | CYTOTOXICITY | Antimicrobial activity | Kidneys | DNA damage | Genotoxicity | Carcinogenesis | nitrofurans | Guanine | Organic chemistry | Reduction | Carcinogens | Reporter gene | Mutant frequency | 8-Hydroxydeoxyguanosine | Point mutation | Mice | Oxidation | Mutation | Deoxyribonucleic acid--DNA | Original
Journal Article
Cardiology and Therapy, ISSN 2193-8261, 12/2019, Volume 8, Issue 2, pp. 297 - 316
Transthyretin amyloid cardiomyopathy (ATTR-CM)—a debilitating, fatal disease resulting from the deposition of transthyretin (TTR) amyloid fibrils—can be...
Observational study | Medicine & Public Health | Cardiomyopathy | Japan | Internal Medicine | Amyloidosis | Cardiology | Data bases | Original Research
Observational study | Medicine & Public Health | Cardiomyopathy | Japan | Internal Medicine | Amyloidosis | Cardiology | Data bases | Original Research
Journal Article
PLoS ONE, ISSN 1932-6203, 03/2015, Volume 10, Issue 3, p. e0122455
There have been several studies which have tried to clarify the neural mechanisms of fatigue sensation; however fatigue sensation has multiple aspects. We...
BRAIN ACTIVITY | SYNCHRONIZATION | EVENTS | MULTIDISCIPLINARY SCIENCES | DYNAMICS | HAPPINESS | MEG | AMYGDALA RESPONSES | SADNESS | Magnetoencephalography | Humans | Adolescent | Mental Fatigue - physiopathology | Adult | Male | Healthy Volunteers | Task Performance and Analysis | Fatigue | Research | Brain | Medical research | Happiness | Nuclear magnetic resonance--NMR | Medical imaging | Memory | Spatial discrimination | Spatial analysis | Experiments | Chronic fatigue syndrome | Medicine | Studies | Fatigue tests | Brain research | Research methodology | Pulvinar | Tomography | Physiology | Spatial filtering | Society | Localization | University graduates | Nuclear magnetic resonance | NMR
BRAIN ACTIVITY | SYNCHRONIZATION | EVENTS | MULTIDISCIPLINARY SCIENCES | DYNAMICS | HAPPINESS | MEG | AMYGDALA RESPONSES | SADNESS | Magnetoencephalography | Humans | Adolescent | Mental Fatigue - physiopathology | Adult | Male | Healthy Volunteers | Task Performance and Analysis | Fatigue | Research | Brain | Medical research | Happiness | Nuclear magnetic resonance--NMR | Medical imaging | Memory | Spatial discrimination | Spatial analysis | Experiments | Chronic fatigue syndrome | Medicine | Studies | Fatigue tests | Brain research | Research methodology | Pulvinar | Tomography | Physiology | Spatial filtering | Society | Localization | University graduates | Nuclear magnetic resonance | NMR
Journal Article
Plant Physiology, ISSN 0032-0889, 10/2013, Volume 163, Issue 2, pp. 804 - 814
The spring-type near isogenic line (NIL) of the winter-type barley (Hordeum vulgare ssp. vulgare) var. Hayakiso 2 (HK2) was developed by introducing...
Proteins | Barley | Genes | Vernalization | Alleles | Flowering | Genetic loci | Photoperiod | Plants | GENES, DEVELOPMENT, AND EVOLUTION | Rice | PHOTOPERIOD SENSITIVITY | VERNALIZATION GENES | MADS BOX GENES | ALPHA-SUBUNIT | HORDEUM-VULGARE | QUANTITATIVE TRAIT LOCUS | FUNCTIONAL-CHARACTERIZATION | MOLECULAR-CLONING | MERISTEM IDENTITY | RICE | PLANT SCIENCES | Transformation, Genetic | Amino Acid Sequence | Molecular Sequence Data | Haplotypes - genetics | Hordeum - physiology | Phytochrome - chemistry | Oryza - genetics | Epistasis, Genetic | Genes, Plant - genetics | Phytochrome - metabolism | Plants, Genetically Modified | Gene Expression Regulation, Plant | Inbreeding | Flowers - physiology | Hordeum - genetics | Flowers - genetics | Phytochrome - genetics | Crosses, Genetic | Genetic Linkage | Physiological aspects | Plants, Flowering of | Research | Growth
Proteins | Barley | Genes | Vernalization | Alleles | Flowering | Genetic loci | Photoperiod | Plants | GENES, DEVELOPMENT, AND EVOLUTION | Rice | PHOTOPERIOD SENSITIVITY | VERNALIZATION GENES | MADS BOX GENES | ALPHA-SUBUNIT | HORDEUM-VULGARE | QUANTITATIVE TRAIT LOCUS | FUNCTIONAL-CHARACTERIZATION | MOLECULAR-CLONING | MERISTEM IDENTITY | RICE | PLANT SCIENCES | Transformation, Genetic | Amino Acid Sequence | Molecular Sequence Data | Haplotypes - genetics | Hordeum - physiology | Phytochrome - chemistry | Oryza - genetics | Epistasis, Genetic | Genes, Plant - genetics | Phytochrome - metabolism | Plants, Genetically Modified | Gene Expression Regulation, Plant | Inbreeding | Flowers - physiology | Hordeum - genetics | Flowers - genetics | Phytochrome - genetics | Crosses, Genetic | Genetic Linkage | Physiological aspects | Plants, Flowering of | Research | Growth
Journal Article
Journal of Toxicologic Pathology, ISSN 0914-9198, 2018, Volume 31, Issue 3, pp. 179 - 188
Oxidative stress is well known as a key factor of chemical carcinogenesis. However, the actual role of oxidative stress in carcinogenesis, such as oxidative...
NF-E2-related factor 2 | kidney | mutagens | nitrofurantoin | DNA damage | bromates | Dna damage | Bromates | Mutagens | Nitrofurantoin | Nf-e2-related factor 2 | Kidney | ENVIRONMENTAL-POLLUTANT | FOOD-ADDITIVES | INITIATION | DNA-DAMAGE | CELL-PROLIFERATION | RENAL CARCINOGEN | PATHOLOGY | KIDNEYS | NRF2 | F344 RATS | MICE | TOXICOLOGY | Drinking water | Oxidative stress | Genotoxicity | Gene deletion | Potassium bromate | Carcinogenesis | Guanine | Substitutes | Carcinogens | Reporter gene | Clonal deletion | 8-Hydroxydeoxyguanosine | Rodents | Deletion | Oxidation | Deoxyribonucleic acid--DNA | Kidneys | Exposure | Organic chemistry | Point mutation | Mice | Mutagenicity | In vivo methods and tests | Mutation | Potassium | Original
NF-E2-related factor 2 | kidney | mutagens | nitrofurantoin | DNA damage | bromates | Dna damage | Bromates | Mutagens | Nitrofurantoin | Nf-e2-related factor 2 | Kidney | ENVIRONMENTAL-POLLUTANT | FOOD-ADDITIVES | INITIATION | DNA-DAMAGE | CELL-PROLIFERATION | RENAL CARCINOGEN | PATHOLOGY | KIDNEYS | NRF2 | F344 RATS | MICE | TOXICOLOGY | Drinking water | Oxidative stress | Genotoxicity | Gene deletion | Potassium bromate | Carcinogenesis | Guanine | Substitutes | Carcinogens | Reporter gene | Clonal deletion | 8-Hydroxydeoxyguanosine | Rodents | Deletion | Oxidation | Deoxyribonucleic acid--DNA | Kidneys | Exposure | Organic chemistry | Point mutation | Mice | Mutagenicity | In vivo methods and tests | Mutation | Potassium | Original
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 05/2015, Volume 60, Issue 5, pp. 259 - 265
Mutations in XPD cause xeroderma pigmentosum (XP), XP and Cockayne syndrome (CS) crossover syndrome (XP/CS), trichothiodystrophy and...
FACIO-SKELETAL SYNDROME | XERODERMA-PIGMENTOSUM | COFS SYNDROME | GENETICS & HEREDITY | PIGMENTOSUM GROUP-D | COCKAYNE-SYNDROME | CLINICAL-FEATURES | DNA-REPAIR | MOLECULAR-BASIS | 2 DECADES | NUCLEOTIDE EXCISION-REPAIR | Cell Line | Xeroderma Pigmentosum Group D Protein - genetics | Genetic Association Studies | Xeroderma Pigmentosum - genetics | Humans | Infant | Male | Transcription Factor TFIIH - genetics | Protein Isoforms - metabolism | Xeroderma Pigmentosum Group D Protein - metabolism | Fatal Outcome | Transcription Factor TFIIH - metabolism | Female | Protein Stability | Protein Isoforms - genetics
FACIO-SKELETAL SYNDROME | XERODERMA-PIGMENTOSUM | COFS SYNDROME | GENETICS & HEREDITY | PIGMENTOSUM GROUP-D | COCKAYNE-SYNDROME | CLINICAL-FEATURES | DNA-REPAIR | MOLECULAR-BASIS | 2 DECADES | NUCLEOTIDE EXCISION-REPAIR | Cell Line | Xeroderma Pigmentosum Group D Protein - genetics | Genetic Association Studies | Xeroderma Pigmentosum - genetics | Humans | Infant | Male | Transcription Factor TFIIH - genetics | Protein Isoforms - metabolism | Xeroderma Pigmentosum Group D Protein - metabolism | Fatal Outcome | Transcription Factor TFIIH - metabolism | Female | Protein Stability | Protein Isoforms - genetics
Journal Article
Allergology International, ISSN 1323-8930, 2018, Volume 67, Issue 1, pp. 103 - 108
[ABSTRACT] [Background] : Atopic dermatitis (AD) is exacerbated by sweating, and the skin of most patients with AD are resided by Malassezia (M.) fungi....
Journal Article
Journal of Field Robotics, ISSN 1556-4959, 09/2018, Volume 35, Issue 6, pp. 850 - 867
Today, robots are expected to be used for the inspection of infrastructures such as bridges. One important task in bridge inspection is to acquire clear images...
ROBOTICS | Bridges | Drone aircraft | Inspection | Usage | Analysis | Rotating spheres | Evaluation | Damage assessment | Visual flight | Rotation | Image acquisition | Airspeed | Spherical shells | Unmanned aerial vehicles | Bridge inspection | Robots | Automotive components
ROBOTICS | Bridges | Drone aircraft | Inspection | Usage | Analysis | Rotating spheres | Evaluation | Damage assessment | Visual flight | Rotation | Image acquisition | Airspeed | Spherical shells | Unmanned aerial vehicles | Bridge inspection | Robots | Automotive components
Journal Article