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The American Journal of Human Genetics, ISSN 0002-9297, 07/2011, Volume 89, Issue 1, pp. 121 - 130
Journal Article
PLoS ONE, ISSN 1932-6203, 2011, Volume 6, Issue 7, pp. e22542 - e22542
Background: Moyamoya disease is an idiopathic vascular disorder of intracranial arteries. Its susceptibility locus has been mapped to 17q25.3 in Japanese... 
MIDDLE CEREBRAL-ARTERY | WILLIS | VIRUS-INFECTION | ZEBRAFISH | SPONTANEOUS OCCLUSION | BIOLOGY | FIBROBLAST-GROWTH-FACTOR | LINKAGE ANALYSIS | CEREBROSPINAL-FLUID | EXPRESSION | CIRCLE | Moyamoya Disease - ethnology | Blood Vessels - metabolism | Humans | DNA, Complementary - genetics | 3' Untranslated Regions - genetics | Molecular Sequence Data | Male | Case-Control Studies | Gene Knockdown Techniques | Blood Vessels - physiopathology | Base Sequence | Cloning, Molecular | HEK293 Cells | Adult | Female | Genetic Predisposition to Disease - genetics | Gene Expression Regulation | Ubiquitin-Protein Ligases - metabolism | Linkage Disequilibrium - genetics | Exons - genetics | Zebrafish | DNA Copy Number Variations - genetics | Open Reading Frames - genetics | Sequence Homology, Amino Acid | Exome - genetics | Animals | Adenosine Triphosphatases | Alleles | Ubiquitin-Protein Ligases - deficiency | Moyamoya Disease - physiopathology | HeLa Cells | Ubiquitin-Protein Ligases - genetics | Moyamoya Disease - genetics | Ubiquitin | Medical colleges | Disease susceptibility | Genetic aspects | Gene mutations | Genes | Transcription | Laboratories | Genomics | Chicken pox | Infections | Genomes | Single-nucleotide polymorphism | Family medical history | Neurosurgery | Carotid arteries | Arteries | Ubiquitination | Life sciences | Informatics | Ubiquitin-protein ligase | Linkage analysis | Lupus | Hypertension | Cytomegalovirus | Stroke | Moyamoya disease | Cytokines | Susceptibility | Blood vessels | Radiation therapy | Disease control | Patients | Loci | Studies | Environmental science | Genotyping | Mutation | Gene mapping | Adenosine triphosphatase | Veins & arteries | Index Medicus
Journal Article
Environmental Health and Preventive Medicine, ISSN 1342-078X, 7/2012, Volume 17, Issue 4, pp. 292 - 298
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 04/2017, Volume 12, Issue 4, pp. e0175649 - e0175649
The genetic architecture of coronary artery disease has not been fully elucidated, especially in Asian countries. Moyamoya disease is a progressive... 
Genetic Predisposition to Disease | Humans | Japan | Middle Aged | Risk Factors | Asian Continental Ancestry Group - genetics | Male | Case-Control Studies | Coronary Artery Disease - genetics | Aged, 80 and over | Female | Adenosine Triphosphatases - genetics | Aged | Polymorphism, Single Nucleotide | Ubiquitin-Protein Ligases - genetics | Amino Acid Substitution | Moyamoya Disease - genetics | Genetic aspects | Moyamoya disease | Research | Coronary heart disease | Myocardial infarction | Heart | Brain | Heart attacks | Cardiovascular disease | Biochemistry | Smoke | Family medical history | Dehydrogenase | Creatine | Homozygosity | Risk factors | Incidence | Angiogenesis | Histopathology | Diagnosis | Public health | Enzymes | Cerebral infarction | Gene expression | Studies | Hospitals | Environmental science | Stem cells | Replication | Control stability | Mutation | Cardiovascular diseases | Circulation | Kidney transplantation | Health care | Populations | Angiography | Antibodies | Population studies | Neurosurgery | Angina | Arteries | Genomic instability | Vascular diseases | Cerebral blood flow | Population | Cardiology | Heart diseases | Age | University graduates | Stroke | Medical imaging | Statistical analysis | Health | Finger | Health risks | Environmental factors | Dentistry | Preventive medicine | Angina pectoris | Minority & ethnic groups | Coronary artery disease | Standards | Medicine | Coronary vessels | Alleles | In vivo methods and tests | Aspartate aminotransferase | Diabetes | Index Medicus
Journal Article
Environmental Health and Preventive Medicine, ISSN 1342-078X, 9/2016, Volume 21, Issue 5, pp. 387 - 390
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 05/2016, Volume 11, Issue 5, pp. e0154827 - e0154827
Painful peripheral neuropathy has been correlated with various voltage-gated sodium channel mutations in sensory neurons. Recently Nav1.9, a voltage-gated... 
INACTIVATION | ACTIVATION | NEUROPATHY | SODIUM-CHANNEL NA(V)1.8 | SENSOR POSITIVE CHARGES | ROOT GANGLION NEURONS | MULTIDISCIPLINARY SCIENCES | ANKYRIN G | SCN9A | OF-FUNCTION MUTATIONS | EXPRESSION | Neuralgia - genetics | Humans | Genetic Diseases, Inborn - genetics | Neuralgia - metabolism | Male | Ganglia, Spinal - physiopathology | Genetic Loci | Mutation, Missense | Action Potentials | NAV1.9 Voltage-Gated Sodium Channel - genetics | Female | Genetic Diseases, Inborn - metabolism | Neuralgia - physiopathology | Genetic Linkage | Cell Line | Japan | Mice, Transgenic | Syndrome | Asian Continental Ancestry Group | Animals | Pedigree | Family | Genetic Diseases, Inborn - physiopathology | Mice | Amino Acid Substitution | Ganglia, Spinal - metabolism | NAV1.9 Voltage-Gated Sodium Channel - metabolism | Gene mutations | Polyneuropathies | Physiological aspects | Ion channels | Genetic aspects | Research | Risk factors | Adolescence | Electric potential | Laboratories | Kinases | Drug screening | Peripheral neuropathy | Pain | Dorsal root ganglia | Mouse devices | Rodents | Sensory neurons | Sodium channels (voltage-gated) | Membrane potential | Adolescents | Linkage analysis | Input impedance | Phenotypes | Neurons | Firing rate | Chromosome 3 | Cold stimuli | Mitigation | Sodium | Cell lines | Mutation | Index Medicus
Journal Article
PLoS ONE, ISSN 1932-6203, 10/2016, Volume 11, Issue 10, pp. e0164759 - e0164759
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2016, Volume 99, Issue 5, pp. 1072 - 1085
Journal Article
Brain & Development, ISSN 0387-7604, 2014, Volume 37, Issue 8, pp. 822 - 824
Journal Article