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1. Full Text Genomic characterization of primary central nervous system lymphoma
by Fukumura, Kazutaka and Kawazu, Masahito and Kojima, Shinya and Ueno, Toshihide and Sai, Eirin and Soda, Manabu and Ueda, Hiroki and Yasuda, Takahiko and Yamaguchi, Hiroyuki and Lee, Jeunghun and Shishido-Hara, Yukiko and Sasaki, Atsushi and Shirahata, Mitsuaki and Mishima, Kazuhiko and Ichimura, Koichi and Mukasa, Akitake and Narita, Yoshitaka and Saito, Nobuhito and Aburatani, Hiroyuki and Nishikawa, Ryo and Nagane, Motoo and Mano, Hiroyuki
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
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2. Full Text Heterogenous nature of gene expression patterns in BRAF-like papillary thyroid carcinomas with BRAFV600E
by Nagayama, Yuji and Mishima, Hiroyuki
Endocrine, ISSN 1355-008X, 12/2019, Volume 66, Issue 3, pp. 607 - 613
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3. Full Text Precision spectroscopy of pionic atoms and chiral symmetry in nuclei
by Itahashi, Kenta and Ahn, Deuksoon and Berg, Georg P.A and Dozono, Masanori and Etoh, Daijiro and Fujioka, Hiroyuki and Fukuda, Naoki and Fukunishi, Nobuhisa and Geissel, Hans and Haettner, Emma and Hashimoto, Tadashi and Hayano, Ryugo S and Hirenzaki, Satoru and Horii, Hiroshi and Ikeno, Natsumi and Inabe, Naoto and Iwasaki, Masahiko and Kameda, Daisuke and Kawase, Shouichiro and Kisamori, Keiichi and Kiyokawa, Yu and Kubo, Toshiyuki and Kusaka, Kensuke and Matsushita, Masafumi and Michimasa, Shin'Ichiro and Mishima, Go and Miya, Hiroyuki and Murai, Daichi and Nagahiro, Hideko and Nishi, Takahiro and Ota, Shinsuke and Sakamoto, Naruhiko and Sekiguchi, Kimiko and Suzuki, Hiroshi and Suzuki, Ken and Takaki, Motonobu and Takeda, Hiroyuki and Tanaka, Yoshiki K and Uesaka, Tomohiro and Wada, Yasumori and Watanabe, Yuni N and Weick, Helmut and Yamakami, Hiroki and Yanagisawa, Yoshiyuki and Yoshida, Koichi
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)
Conference Proceeding
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4. Full Text A homozygous splice site ROBO1 mutation in a patient with a novel syndrome with combined pituitary hormone deficiency
by Dateki, Sumito and Watanabe, Satoshi and Mishima, Hiroyuki and Shirakawa, Toshihiko and Morikawa, Minoru and Kinoshita, Eiichi and Yoshiura, Koh-ichiro and Moriuchi, Hiroyuki
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... 
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5. Full Text Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome
by Shimizu, H and Watanabe, S and Kinoshita, A and Mishima, H and Nishimura, G and Moriuchi, H and Yoshiura, KI and Dateki, S
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
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6. Full Text Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan
by Mishima, Hiroyuki and Suzuki, Hisato and Doi, Michiko and Miyazaki, Mutsuko and Watanabe, Satoshi and Matsumoto, Tadashi and Morifuji, Kanako and Moriuchi, Hiroyuki and Yoshiura, Koh-ichiro and Kondoh, Tatsuro and Kosaki, Kenjiro
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
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7. Full Text Stimulation of Histamine H1 Receptor Up-Regulates Histamine H1 Receptor Itself Through Activation of Receptor Gene Transcription
by Das, Asish K and Yoshimura, Sachiho and Mishima, Ryoko and Fujimoto, Katsumi and Mizuguchi, Hiroyuki and Dev, Shrabanti and Wakayama, Yousuke and Kitamura, Yoshiaki and Horio, Shuhei and Takeda, Noriaki and Fukui, Hiroyuki
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
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8. Full Text Heterogenous nature of gene expression patterns in BRAF-like papillary thyroid carcinomas with BRAF V600E
by Nagayama, Yuji and Mishima, Hiroyuki
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... 
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9. Full Text Optical Information to Guide the Head and Handle Movements While Playing Kendama
by Ito, Mariko and Mishima, Hiroyuki
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
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10. Full Text Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome
by Kazuhiko Arima and Akira Kinoshita and Hiroyuki Mishima and Nobuo Kanazawa and Takeumi Kaneko and Tsunehiro Mizushima and Kunihiro Ichinose and Hideki Nakamura and Akira Tsujino and Atsushi Kawakami and Masahiro Matsunaka and Shimpei Kasagi and Seiji Kawano and Shunichi Kumagai and Koichiro Ohmura and Tsuneyo Mimori and Makito Hirano and Satoshi Ueno and Keiko Tanaka and Masami Tanaka and Itaru Toyoshima and Hirotoshi Sugino and Akio Yamakawa and Keiji Tanaka and Norio Niikawa and Fukumi Furukawa and Shigeo Murata and Katsumi Eguchi and Hiroaki Ida and Koh-ichiro Yoshiura
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
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11. Full Text Clonal dynamics in a case of acute monoblastic leukemia that later developed myeloproliferative neoplasm
by Sato, Shinya and Itonaga, Hidehiro and Taguchi, Masataka and Sawayama, Yasushi and Imanishi, Daisuke and Tsushima, Hideki and Hata, Tomoko and Moriuchi, Yukiyoshi and Mishima, Hiroyuki and Kinoshita, Akira and Yoshiura, Koh-ichiro and Miyazaki, Yasushi
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
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12. Full Text How Does a Walker Pass Between Two People Standing in Different Configurations? Influence of Personal Space on Aperture Passing Methods
by Tomono, Takayuki and Makino, Ryosaku and Furuyama, Nobuhiro and Mishima, Hiroyuki
Frontiers in Psychology, ISSN 1664-1078, 12/2019, Volume 10
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13. Full Text WS2-3 Human Disease Genome Analysis Depends on Public Databases
by MISHIMA and Hiroyuki and YOSHIURA and Koh-Ichiro and Dept. Hum. Genet and Nagasaki Univ
Genes & Genetic Systems, ISSN 1341-7568, 2016, Volume 91, Issue 6, pp. 326 - 326
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14. Full Text Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair
by Nakazawa, Yuka and Sasaki, Kensaku and Mitsutake, Norisato and Matsuse, Michiko and Shimada, Mayuko and Nardo, Tiziana and Takahashi, Yoshito and Ohyama, Kaname and Ito, Kosei and Mishima, Hiroyuki and Nomura, Masayo and Kinoshita, Akira and Ono, Shinji and Takenaka, Katsuya and Masuyama, Ritsuko and Kudo, Takashi and Slor, Hanoch and Utani, Atsushi and Tateishi, Satoshi and Yamashita, Shunichi and Stefanini, Miria and Lehmann, Alan R and Yoshiura, Koh-Ichiro and Ogi, Tomoo
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
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15. Full Text Characterization of placenta‐specific microRNAs in fetal growth restriction pregnancy
by Higashijima, Ai and Miura, Kiyonori and Mishima, Hiroyuki and Kinoshita, Akira and Jo, Ozora and Abe, Shuhei and Hasegawa, Yuri and Miura, Shoko and Yamasaki, Kentaro and Yoshida, Atsushi and Yoshiura, Koh‐ichiro and Masuzaki, Hideaki
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
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16. Full Text Role of vasopressin V1a receptor in ∆9-tetrahydrocannabinol-induced cataleptic immobilization in mice
by Egashira, Nobuaki and Koushi, Emi and Myose, Takayuki and Tanoue, Akito and Mishima, Kenichi and Tsuchihashi, Ryota and Kinjo, Junei and Tanaka, Hiroyuki and Morimoto, Satoshi and Iwasaki, Katsunori
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
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17. Full Text Detection of de novo single nucleotide variants in offspring of atomic-bomb survivors close to the hypocenter by whole-genome sequencing
by Horai, Makiko and Mishima, Hiroyuki and Hayashida, Chisa and Kinoshita, Akira and Nakane, Yoshibumi and Matsuo, Tatsuki and Tsuruda, Kazuto and Yanagihara, Katsunori and Sato, Shinya and Imanishi, Daisuke and Imaizumi, Yoshitaka and Hata, Tomoko and Miyazaki, Yasushi and Yoshiura, Koh-Ichiro
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
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18. Full Text A significant association between rs8067378 at 17q12 and invasive cervical cancer originally identified by a genome-wide association study in Han Chinese is replicated in a Japanese population
by Miura, Kiyonori and Mishima, Hiroyuki and Yasunami, Michio and Kaneuchi, Masanori and Kitajima, Michio and Abe, Shuhei and Higashijima, Ai and Fuchi, Naoki and Miura, Shoko and Yoshiura, Koh-Ichiro and Masuzaki, Hideaki
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
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