Acta Neuropathologica, ISSN 0001-6322, 6/2016, Volume 131, Issue 6, pp. 865 - 875
Primary central nervous system lymphoma (PCNSL) is a rare malignancy confined to the central nervous system (CNS), and majority of PCNSL is pathologically...
Pathology | Neurosciences | Medicine & Public Health | Oncogene | Genomics | Primary central nervous system lymphoma | MYD88 | Disease-Free Survival | Leukocytes, Mononuclear - metabolism | Leukocytes, Mononuclear - pathology | Lymphoma, Large B-Cell, Diffuse - pathology | NF-kappa B - genetics | Nervous System - pathology | Central Nervous System Neoplasms - genetics | Humans | Genomics - methods | Mutation - genetics | Lymphoma, Large B-Cell, Diffuse - genetics | Gene Expression Regulation, Neoplastic - genetics | Genetic aspects | Non-Hodgkin's lymphomas | RNA | Central nervous system | Cancer
Pathology | Neurosciences | Medicine & Public Health | Oncogene | Genomics | Primary central nervous system lymphoma | MYD88 | Disease-Free Survival | Leukocytes, Mononuclear - metabolism | Leukocytes, Mononuclear - pathology | Lymphoma, Large B-Cell, Diffuse - pathology | NF-kappa B - genetics | Nervous System - pathology | Central Nervous System Neoplasms - genetics | Humans | Genomics - methods | Mutation - genetics | Lymphoma, Large B-Cell, Diffuse - genetics | Gene Expression Regulation, Neoplastic - genetics | Genetic aspects | Non-Hodgkin's lymphomas | RNA | Central nervous system | Cancer
Journal Article
Endocrine, ISSN 1355-008X, 12/2019, Volume 66, Issue 3, pp. 607 - 613
Journal Article
EPJ Web of Conferences, ISSN 2101-6275, 11/2016, Volume 130, p. 1017
We conduct an experimental project to make spectroscopy of deeply bound pionic atoms systematically over wide range of nuclei. We aim at studying the strong...
Broken symmetry | Atomic beam spectroscopy | Restoration | Spectral resolution | Spectrum analysis | Nuclei (nuclear physics) | Nuclear matter | Strong interactions (field theory)
Broken symmetry | Atomic beam spectroscopy | Restoration | Spectral resolution | Spectrum analysis | Nuclei (nuclear physics) | Nuclear matter | Strong interactions (field theory)
Conference Proceeding
Journal of Human Genetics, ISSN 1434-5161, 04/2019, Volume 64, Issue 4, pp. 341 - 346
The genetic causes of combined pituitary hormone deficiency remain elusive in most patients. Recently, incompletely penetrant heterozygous mutations in ROBO1...
Journal Article
JOURNAL OF HUMAN GENETICS, ISSN 1434-5161, 05/2019, Volume 64, Issue 5, pp. 467 - 471
Spondylocarpotarsal synostosis syndrome, a rare syndromic skeletal disorder characterized by disrupted vertebral segmentation with vertebral fusion, scoliosis,...
SEGMENTATION | MUTATIONS | GENETICS & HEREDITY | FILAMIN-B
SEGMENTATION | MUTATIONS | GENETICS & HEREDITY | FILAMIN-B
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 08/2019, Volume 64, Issue 8, pp. 789 - 794
An increasing number of genetic syndromes present a challenge to clinical geneticists. A deep learning-based diagnosis assistance system, Face2Gene, utilizes...
PHENOTYPE | GENETICS & HEREDITY
PHENOTYPE | GENETICS & HEREDITY
Journal Article
Journal of Pharmacological Sciences, ISSN 1347-8613, 2007, Volume 103, Issue 4, pp. 374 - 382
Histamine is a major mediator in allergy acting mainly through the histamine H receptor (H1R). Although H1R up-regulation has been suggested as an important...
receptor gene transcription | histamine | histamine H1 receptor | protein kinase C | HeLa cell | Histamine | Protein kinase C | Receptor gene transcription | receptor | Histamine H | Cyclic GMP - pharmacology | Transcription, Genetic - drug effects | Luciferases - metabolism | Tetradecanoylphorbol Acetate - pharmacology | Humans | Tritium | RNA, Messenger - metabolism | Luciferases - genetics | Receptors, Histamine H1 - metabolism | Transfection | Cyclic GMP - analogs & derivatives | Histamine H1 Antagonists - pharmacology | Protein Kinase C - metabolism | Receptors, Histamine H1 - genetics | Indoles - pharmacology | Histamine - pharmacology | 8-Bromo Cyclic Adenosine Monophosphate - pharmacology | RNA, Messenger - genetics | Enzyme Inhibitors - pharmacology | Up-Regulation - genetics | Protein Kinase C - antagonists & inhibitors | Thionucleotides - pharmacology | Reverse Transcriptase Polymerase Chain Reaction | Up-Regulation - drug effects | Pyrroles - pharmacology | Pyrilamine - pharmacology | HeLa Cells | Carbazoles - pharmacology
receptor gene transcription | histamine | histamine H1 receptor | protein kinase C | HeLa cell | Histamine | Protein kinase C | Receptor gene transcription | receptor | Histamine H | Cyclic GMP - pharmacology | Transcription, Genetic - drug effects | Luciferases - metabolism | Tetradecanoylphorbol Acetate - pharmacology | Humans | Tritium | RNA, Messenger - metabolism | Luciferases - genetics | Receptors, Histamine H1 - metabolism | Transfection | Cyclic GMP - analogs & derivatives | Histamine H1 Antagonists - pharmacology | Protein Kinase C - metabolism | Receptors, Histamine H1 - genetics | Indoles - pharmacology | Histamine - pharmacology | 8-Bromo Cyclic Adenosine Monophosphate - pharmacology | RNA, Messenger - genetics | Enzyme Inhibitors - pharmacology | Up-Regulation - genetics | Protein Kinase C - antagonists & inhibitors | Thionucleotides - pharmacology | Reverse Transcriptase Polymerase Chain Reaction | Up-Regulation - drug effects | Pyrroles - pharmacology | Pyrilamine - pharmacology | HeLa Cells | Carbazoles - pharmacology
Journal Article
Endocrine, 09/2019
Papillary thyroid cancers (PTCs) are the most common type of thyroid cancers, in which BRAF is the most prevalent driver mutation. It is known that BRAF...
Journal Article
Ecological Psychology, ISSN 1040-7413, 07/2018, Volume 30, Issue 3, pp. 250 - 277
This study focuses on the perceptual skills used when playing kendama, a toy with a ball, string, and handle. It examines the visual information required for...
DYNAMIC BALANCE CONTROL | CONTACT | UNIFIED FIELDER THEORY | TAUG-GUIDANCE | BALLS | CATCH | GAIT INITIATION | RUN | PSYCHOLOGY, EXPERIMENTAL | Toys | Games | Players | Visual perception
DYNAMIC BALANCE CONTROL | CONTACT | UNIFIED FIELDER THEORY | TAUG-GUIDANCE | BALLS | CATCH | GAIT INITIATION | RUN | PSYCHOLOGY, EXPERIMENTAL | Toys | Games | Players | Visual perception
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 9/2011, Volume 108, Issue 36, pp. 14914 - 14919
Nakajo-Nishimura syndrome (NNS) is a disorder that segregates in an autosomal recessive fashion. Symptoms include periodic fever, skin rash, partial...
Cytokines | Fibroblasts | Inflammation | Skin | Graduate schools | Cellular immunity | Autoimmune diseases | Genetic mutation | Wasting syndrome | Muscular atrophy | ACTIVATION | HYPER-GAMMA-GLOBULINEMIA | INFLAMMATORY DISEASES | INHIBITOR BORTEZOMIB | KINASE PHOSPHATASES | MULTIDISCIPLINARY SCIENCES | MAMMALIAN 20S PROTEASOME | MUSCULAR-ATROPHY | INTERLEUKIN-6 | STRESS | NF-KAPPA-B | Inflammation - pathology | Autoimmune Diseases - enzymology | Cytokines - metabolism | Humans | Muscular Atrophy - pathology | Male | Muscular Atrophy - genetics | Mutation, Missense | Muscular Atrophy - enzymology | Syndrome | Autoimmune Diseases - genetics | Proteasome Endopeptidase Complex - genetics | Inflammation - metabolism | Inflammation - genetics | Female | Proteasome Endopeptidase Complex - metabolism | Autoimmune Diseases - pathology | Cytokines - genetics | Ubiquitination - genetics | Amino Acid Substitution | Gene mutations | Physiological aspects | Genetic aspects | Research | Ubiquitin-proteasome system | Health aspects | Biological Sciences
Cytokines | Fibroblasts | Inflammation | Skin | Graduate schools | Cellular immunity | Autoimmune diseases | Genetic mutation | Wasting syndrome | Muscular atrophy | ACTIVATION | HYPER-GAMMA-GLOBULINEMIA | INFLAMMATORY DISEASES | INHIBITOR BORTEZOMIB | KINASE PHOSPHATASES | MULTIDISCIPLINARY SCIENCES | MAMMALIAN 20S PROTEASOME | MUSCULAR-ATROPHY | INTERLEUKIN-6 | STRESS | NF-KAPPA-B | Inflammation - pathology | Autoimmune Diseases - enzymology | Cytokines - metabolism | Humans | Muscular Atrophy - pathology | Male | Muscular Atrophy - genetics | Mutation, Missense | Muscular Atrophy - enzymology | Syndrome | Autoimmune Diseases - genetics | Proteasome Endopeptidase Complex - genetics | Inflammation - metabolism | Inflammation - genetics | Female | Proteasome Endopeptidase Complex - metabolism | Autoimmune Diseases - pathology | Cytokines - genetics | Ubiquitination - genetics | Amino Acid Substitution | Gene mutations | Physiological aspects | Genetic aspects | Research | Ubiquitin-proteasome system | Health aspects | Biological Sciences
Journal Article
International Journal of Hematology, ISSN 0925-5710, 8/2018, Volume 108, Issue 2, pp. 213 - 217
In acute myeloid leukemia (AML), patients may harbor pre-leukemic hematopoietic stem cells (HSCs) containing some, but not all, of the mutations observed in...
Medicine & Public Health | Hematology | Whole-exome sequencing | Oncology | Acute myeloid leukemia | Myeloproliferative neoplasm | Pre-leukemic hematopoietic stem cells | TRANSFORMATION | NPM1 | TET2 | ACUTE MYELOID-LEUKEMIA | CANCER | SOMATIC MUTATIONS | GENOME | EVOLUTION | ENTITY | HEMATOLOGY | MYELODYSPLASTIC SYNDROMES | Chemotherapy | Analysis | Hematopoietic stem cells | Tumors | Cancer | Cluster analysis | Myeloid leukemia | Pathogenesis | Leukemia | Cloning | Patients | Janus kinase 2 | Stem cells | Remission | Mutation
Medicine & Public Health | Hematology | Whole-exome sequencing | Oncology | Acute myeloid leukemia | Myeloproliferative neoplasm | Pre-leukemic hematopoietic stem cells | TRANSFORMATION | NPM1 | TET2 | ACUTE MYELOID-LEUKEMIA | CANCER | SOMATIC MUTATIONS | GENOME | EVOLUTION | ENTITY | HEMATOLOGY | MYELODYSPLASTIC SYNDROMES | Chemotherapy | Analysis | Hematopoietic stem cells | Tumors | Cancer | Cluster analysis | Myeloid leukemia | Pathogenesis | Leukemia | Cloning | Patients | Janus kinase 2 | Stem cells | Remission | Mutation
Journal Article
Frontiers in Psychology, ISSN 1664-1078, 12/2019, Volume 10
Journal Article
Genes & Genetic Systems, ISSN 1341-7568, 2016, Volume 91, Issue 6, pp. 326 - 326
Journal Article
Nature Genetics, ISSN 1061-4036, 05/2012, Volume 44, Issue 5, pp. 586 - 592
UV-sensitive syndrome ((UVS)-S-S) is a genodermatosis characterized by cutaneous photosensitivity without skin carcinoma(1-4). Despite mild clinical features,...
IRRADIATION | INHIBITION | OXIDATIVE DNA-DAMAGE | XERODERMA-PIGMENTOSUM | DEFECT | GENETICS & HEREDITY | FRAMEWORK | COCKAYNE-SYNDROME | SEQUENCING DATA | SYNDROME CELLS | FIBROBLASTS | DNA Helicases - chemistry | Transcription Factors - chemistry | Humans | DNA Repair Enzymes - genetics | DNA Repair - radiation effects | DNA Repair - genetics | RNA Polymerase II - metabolism | Transcription Factors - genetics | Mutation - genetics | Carrier Proteins - genetics | Poly-ADP-Ribose Binding Proteins | Exome - genetics | Ultraviolet Rays | Cockayne Syndrome - genetics | DNA Damage - genetics | RNA Polymerase II - genetics | Transcription, Genetic | DNA Helicases - genetics | DNA Damage - radiation effects | DNA Repair Enzymes - chemistry | Proteins | Medical research | Mutation | Kinases | Genes
IRRADIATION | INHIBITION | OXIDATIVE DNA-DAMAGE | XERODERMA-PIGMENTOSUM | DEFECT | GENETICS & HEREDITY | FRAMEWORK | COCKAYNE-SYNDROME | SEQUENCING DATA | SYNDROME CELLS | FIBROBLASTS | DNA Helicases - chemistry | Transcription Factors - chemistry | Humans | DNA Repair Enzymes - genetics | DNA Repair - radiation effects | DNA Repair - genetics | RNA Polymerase II - metabolism | Transcription Factors - genetics | Mutation - genetics | Carrier Proteins - genetics | Poly-ADP-Ribose Binding Proteins | Exome - genetics | Ultraviolet Rays | Cockayne Syndrome - genetics | DNA Damage - genetics | RNA Polymerase II - genetics | Transcription, Genetic | DNA Helicases - genetics | DNA Damage - radiation effects | DNA Repair Enzymes - chemistry | Proteins | Medical research | Mutation | Kinases | Genes
Journal Article
Prenatal Diagnosis, ISSN 0197-3851, 03/2013, Volume 33, Issue 3, pp. 214 - 222
ABSTRACT Objective The aim of this study was to characterize placenta‐specific microRNAs in fetal growth restriction (FGR) pregnancy. Method Placenta‐specific...
MATERNAL PLASMA | CIRCULATION | GENETICS & HEREDITY | RNAS | PREECLAMPSIA | IDENTIFICATION | EXPRESSION | OBSTETRICS & GYNECOLOGY | Fetal Growth Retardation - blood | Humans | Gene Expression Regulation, Developmental - genetics | Fetal Growth Retardation - genetics | Male | MicroRNAs - metabolism | Fetal Growth Retardation - metabolism | Gene Expression Profiling | Reverse Transcriptase Polymerase Chain Reaction | Gestational Age | Case-Control Studies | Placenta - metabolism | Pregnancy | Young Adult | Chromosomes, Human, Pair 19 - genetics | Adult | Female | MicroRNAs - blood | MicroRNAs - genetics | Chromosomes, Human, Pair 19 - metabolism | MicroRNA | Pregnant women | Growth | Analysis | Fetus | Chemical properties
MATERNAL PLASMA | CIRCULATION | GENETICS & HEREDITY | RNAS | PREECLAMPSIA | IDENTIFICATION | EXPRESSION | OBSTETRICS & GYNECOLOGY | Fetal Growth Retardation - blood | Humans | Gene Expression Regulation, Developmental - genetics | Fetal Growth Retardation - genetics | Male | MicroRNAs - metabolism | Fetal Growth Retardation - metabolism | Gene Expression Profiling | Reverse Transcriptase Polymerase Chain Reaction | Gestational Age | Case-Control Studies | Placenta - metabolism | Pregnancy | Young Adult | Chromosomes, Human, Pair 19 - genetics | Adult | Female | MicroRNAs - blood | MicroRNAs - genetics | Chromosomes, Human, Pair 19 - metabolism | MicroRNA | Pregnant women | Growth | Analysis | Fetus | Chemical properties
Journal Article
Psychopharmacology, ISSN 0033-3158, 12/2017, Volume 234, Issue 23, pp. 3475 - 3483
Cannabis is a widely used illicit substance. ∆9-tetrahydrocannabinol (THC), the major psychoactive component of cannabis, is known to cause catalepsy in...
Neurosciences | V1a receptor | Biomedicine | Catalepsy | V1b receptor | Pharmacology/Toxicology | Psychiatry | 9 -Tetrahydrocannabinol | Vasopressin | Tetrahydrocannabinol | Mice, Inbred C57BL | Male | Random Allocation | Cannabinoid Receptor Agonists - pharmacology | Cannabinoids - pharmacology | Mice, Knockout | Dose-Response Relationship, Drug | Animals | Immobilization - physiology | Catalepsy - chemically induced | Receptors, Vasopressin - physiology | Mice | Cannabinoids - toxicity | Immobilization - methods | Dronabinol - pharmacology | Dronabinol - toxicity | Haloperidol - pharmacology | Haloperidol - toxicity | Cannabinoid Receptor Agonists - toxicity | Receptors, Vasopressin - agonists | Emotional behavior | Brain | Memory | Central nervous system | Immobilization | Haloperidol | Argipressin receptors | Cannabis | Receptors | Social behavior | Social discrimination learning | Rodents
Neurosciences | V1a receptor | Biomedicine | Catalepsy | V1b receptor | Pharmacology/Toxicology | Psychiatry | 9 -Tetrahydrocannabinol | Vasopressin | Tetrahydrocannabinol | Mice, Inbred C57BL | Male | Random Allocation | Cannabinoid Receptor Agonists - pharmacology | Cannabinoids - pharmacology | Mice, Knockout | Dose-Response Relationship, Drug | Animals | Immobilization - physiology | Catalepsy - chemically induced | Receptors, Vasopressin - physiology | Mice | Cannabinoids - toxicity | Immobilization - methods | Dronabinol - pharmacology | Dronabinol - toxicity | Haloperidol - pharmacology | Haloperidol - toxicity | Cannabinoid Receptor Agonists - toxicity | Receptors, Vasopressin - agonists | Emotional behavior | Brain | Memory | Central nervous system | Immobilization | Haloperidol | Argipressin receptors | Cannabis | Receptors | Social behavior | Social discrimination learning | Rodents
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 03/2018, Volume 63, Issue 3, pp. 357 - 363
Ionizing radiation released by the atomic bombs at Hiroshima and Nagasaki, Japan, in 1945 caused many long-term illnesses, including increased risks of...
MUTATION-RATES | RISK | LOCI | ALIGNMENT | GENETICS & HEREDITY | CHILDREN | Humans | Japan | Survivors | Male | DNA Copy Number Variations | Whole Genome Sequencing | Young Adult | Disasters | Public Health Surveillance | Adolescent | Nuclear Weapons | Adult | Female | Polymorphism, Single Nucleotide | Child | Genomes
MUTATION-RATES | RISK | LOCI | ALIGNMENT | GENETICS & HEREDITY | CHILDREN | Humans | Japan | Survivors | Male | DNA Copy Number Variations | Whole Genome Sequencing | Young Adult | Disasters | Public Health Surveillance | Adolescent | Nuclear Weapons | Adult | Female | Polymorphism, Single Nucleotide | Child | Genomes
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 09/2016, Volume 61, Issue 9, pp. 793 - 796
In this study, associations between invasive cervical cancer and four cervical cancer susceptibility loci (rs13117307 at 4q12, rs8067378 at 17q12, and...
SUSCEPTIBILITY LOCI | WOMEN | II ALLELES | RISK | PROGRESSION | GENETICS & HEREDITY | Genetic Predisposition to Disease | Genome-Wide Association Study | Neoplasm Invasiveness | Humans | Japan | Middle Aged | Asian Continental Ancestry Group - genetics | Genotype | Risk | Uterine Cervical Neoplasms - pathology | HLA-DP beta-Chains - genetics | Uterine Cervical Neoplasms - genetics | Case-Control Studies | Chromosomes, Human, Pair 17 | China | Alleles | Adult | Female | Aged | Polymorphism, Single Nucleotide | Odds Ratio | Quantitative Trait Loci
SUSCEPTIBILITY LOCI | WOMEN | II ALLELES | RISK | PROGRESSION | GENETICS & HEREDITY | Genetic Predisposition to Disease | Genome-Wide Association Study | Neoplasm Invasiveness | Humans | Japan | Middle Aged | Asian Continental Ancestry Group - genetics | Genotype | Risk | Uterine Cervical Neoplasms - pathology | HLA-DP beta-Chains - genetics | Uterine Cervical Neoplasms - genetics | Case-Control Studies | Chromosomes, Human, Pair 17 | China | Alleles | Adult | Female | Aged | Polymorphism, Single Nucleotide | Odds Ratio | Quantitative Trait Loci
Journal Article