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1. Full Text Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia
by Sakaguchi, Hirotoshi and Okuno, Yusuke and Muramatsu, Hideki and Yoshida, Kenichi and Shiraishi, Yuichi and Takahashi, Mariko and Kon, Ayana and Sanada, Masashi and Chiba, Kenichi and Tanaka, Hiroko and Makishima, Hideki and Wang, Xinan and Xu, Yinyan and Doisaki, Sayoko and Hama, Asahito and Nakanishi, Koji and Takahashi, Yoshiyuki and Yoshida, Nao and Maciejewski, Jaroslaw P and Miyano, Satoru and Ogawa, Seishi and Kojima, Seiji
Nature genetics, ISSN 1061-4036, 08/2013, Volume 45, Issue 8, pp. 937 - 941
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Leukemia, Myelomonocytic, Juvenile - metabolism | Signal Transduction | Humans | Child, Preschool | Infant | Male | Disease Progression | Exome | Leukemia, Myelomonocytic, Juvenile - mortality | Carrier Proteins - genetics | Janus Kinase 3 - genetics | Germ-Line Mutation | Female | High-Throughput Nucleotide Sequencing | Leukemia, Myelomonocytic, Juvenile - genetics | Mutation | Nuclear Proteins - genetics | Child | Infant, Newborn | Proto-Oncogene Proteins p21(ras) - metabolism | Usage | Gene mutations | Leukemia | Physiological aspects | Genetic aspects | Nucleotide sequencing | Research | Risk factors | DNA sequencing | Proteins | Pathogenesis | Genes | Genomes | Kinases | Cancer | Index Medicus
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2. Full Text Somatic SETBP1 mutations in myeloid malignancies
by Makishima, Hideki and Yoshida, Kenichi and Nguyen, Nhu and Przychodzen, Bartlomiej and Sanada, Masashi and Okuno, Yusuke and Ng, Kwok Peng and Gudmundsson, Kristbjorn O and Vishwakarma, Bandana A and Jerez, Andres and Segui, Ines Gomez and Takahashi, Mariko and Shiraishi, Yuichi and Nagata, Yasunobu and Guinta, Kathryn and Mori, Hiraku and Sekeres, Mikkael A and Chiba, Kenichi and Tanaka, Hiroko and Muramatsu, Hideki and Sakaguchi, Hirotoshi and Paquette, Ronald L and McDevitt, Michael A and Kojima, Seiji and Saunthararajah, Yogen and Miyano, Satoru and Shih, Lee-Yung and Du, Yang and Ogawa, Seishi and Maciejewski, Jaroslaw P
Nature genetics, ISSN 1061-4036, 08/2013, Volume 45, Issue 8, pp. 942 - 946
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Humans | Leukemia, Myeloid - genetics | Middle Aged | Molecular Sequence Data | Male | Myeloproliferative Disorders - genetics | Exome | Young Adult | T-Lymphocytes - metabolism | Cell Transformation, Neoplastic - genetics | Base Sequence | Aged, 80 and over | Adult | Female | Leukemia, Myeloid - mortality | Nuclear Proteins - genetics | Amino Acid Sequence | Myeloid Progenitor Cells - metabolism | Myeloid Progenitor Cells - pathology | Carrier Proteins - genetics | Animals | Adolescent | Aged | High-Throughput Nucleotide Sequencing | Mice | Mutation | Bone Marrow Cells - metabolism | Myeloproliferative Disorders - mortality | Cluster Analysis | Gene mutations | Myelocytic leukemia | Physiological aspects | Genetic aspects | Nonlymphoid leukemia | Research | Risk factors | Cancer | Genes | Cloning | Colleges & universities | Science | Genomes | Grants | Family medical history | Databases | DNA methylation | Software | Deoxyribonucleic acid--DNA | Index Medicus | SETBP1 | CMML | SECONDARY AML | MUTATION | MONOSOMY 7
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3. Full Text Mutations of E3 Ubiquitin Ligase Cbl Family Members Constitute a Novel Common Pathogenic Lesion in Myeloid Malignancies
by Hideki Makishima and Heather Cazzolli and Hadrian Szpurka and Andrew Dunbar and Ramon Tiu and Jungwon Huh and Hideki Muramatsu and Christine O'Keefe and Eric Hsi and Ronald L. Paquette and Seiji Kojima and Alan F. List and Mikkael A. Sekeres and Michael A. McDevitt and Jaroslaw P. Maciejewski
Journal of clinical oncology, ISSN 0732-183X, 12/2009, Volume 27, Issue 36, pp. 6109 - 6116
Life Sciences & Biomedicine | Oncology | Science & Technology | Immunohistochemistry | Proto-Oncogene Proteins c-cbl - genetics | Multivariate Analysis | Myeloproliferative Disorders - enzymology | Proto-Oncogene Proteins c-cbl - metabolism | Frameshift Mutation | Humans | Myeloproliferative Disorders - pathology | Myeloproliferative Disorders - genetics | Uniparental Disomy - genetics | Karyotyping | Chromosomes, Human, Pair 11 | Polymorphism, Single Nucleotide | Mutation | Index Medicus | Original Reports | Hema4 | Hema9
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4. Chronic myelomonocytic leukemia and atypical chronic myeloid leukemia: Novel pathogenetic lesions
by Muramatsu, Hideki and Makishima, Hideki and MacIejewski, Jaroslaw P
Seminars in oncology, ISSN 0093-7754, 02/2012, Volume 39, Issue 1, pp. 67 - 73
Life Sciences & Biomedicine | Oncology | Science & Technology | Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative - genetics | Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative - pathology | Prognosis | Leukemia, Myelomonocytic, Chronic - pathology | Humans | Leukemia, Myelomonocytic, Chronic - genetics
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5. Full Text Bipolar anodic electrochemical exfoliation of graphite powders
by Hashimoto, Hideki and Muramatsu, Yusuke and Nishina, Yuta and Asoh, Hidetaka
Electrochemistry communications, ISSN 1388-2481, 07/2019, Volume 104, p. 106475
Graphene oxide | Anode | Graphene | Bipolar electrochemistry | Graphite | Electrochemical exfoliation | Electrochemistry | Physical Sciences | Science & Technology
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6. Full Text Hematopoietic stem cell transplantation for progressive combined immunodeficiency and lymphoproliferation in patients with activated phosphatidylinositol-3-OH kinase δ syndrome type 1
by Okano, Tsubasa and Imai, Kohsuke and Tsujita, Yuki and Mitsuiki, Noriko and Yoshida, Kenichi and Kamae, Chikako and Honma, Kenichi and Mitsui-Sekinaka, Kanako and Sekinaka, Yujin and Kato, Tamaki and Hanabusa, Katsuyuki and Endo, Eri and Takashima, Takehiro and Hiroki, Haruka and Yeh, Tzu-Wen and Tanaka, Keisuke and Nagahori, Masakazu and Tsuge, Ikuya and Bando, Yuki and Iwasaki, Fuminori and Shikama, Yoshiaki and Inoue, Masami and Kimoto, Tomiko and Moriguchi, Naohiko and Yuza, Yuki and Kaneko, Takashi and Suzuki, Kyoko and Matsubara, Tomoyo and Maruo, Yoshihiro and Kunitsu, Tomoaki and Waragai, Tomoko and Sano, Hideki and Hashimoto, Yuko and Tasaki, Kazuhiro and Suzuki, Osamu and Shirakawa, Toshihiko and Kato, Motohiro and Uchiyama, Toru and Ishimura, Masataka and Tauchi, Tetsuzo and Yagasaki, Hiroshi and Jou, Shiann-Tarng and Yu, Hsin-Hui and Kanegane, Hirokazu and Kracker, Sven and Durandy, Anne and Kojima, Daiei and Muramatsu, Hideki and Wada, Taizo and Inoue, Yuzaburo and Takada, Hidetoshi and Kojima, Seiji and Ogawa, Seishi and Ohara, Osamu and Nonoyama, Shigeaki and Morio, Tomohiro
Journal of allergy and clinical immunology, ISSN 0091-6749, 01/2019, Volume 143, Issue 1, pp. 266 - 275
kappa-deleting recombination excision circle | hematopoietic stem cell transplantation | PIK3CD | T-cell receptor excision circle | IgG2 | Activated phosphatidylinositol-3-OH kinase δ syndrome type 1 | combined immunodeficiency | IgG | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Hyperplasia | Stem cell transplantation | Medical records | Infections | Transplantation | Malignancy | Hematopoietic stem cells | Respiratory tract | Airway management | Child development | Respiratory tract diseases | Conditioning | Children | Adolescents | Puberty | Immunoglobulins | Complications | Immunodeficiency | Patients | Survival | Lymphoma | Hemopoiesis | Rejection | Grafts | Fludarabine | Medical prognosis | Stem cells | Mutation | Index Medicus | Abridged Index Medicus
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7. Full Text Serial investigation of PTPN11 mutation in nonhematopoietic tissues in a patient with juvenile myelomonocytic leukemia who was treated with unrelated cord blood transplantation
by Hiramoto, Rika and Imamura, Toshihiko and Muramatsu, Hideki and Wang, Xinan and Kanayama, Takuyo and Zuiki, Masashi and Yoshida, Hideki and Moroto, Masaharu and Fujiki, Atsushi and Chiyonobu, Tomohiro and Osone, Shinya and Ishida, Hiroyuki and Kojima, Seiji and Hosoi, Hajime
International journal of hematology, ISSN 0925-5710, 12/2015, Volume 102, Issue 6, pp. 719 - 722
Medicine & Public Health | Hematology | Somatic mosaicism | Nonhematological tissue | Cord blood transplantation | Oncology | Juvenile myelomonocytic leukemia | PTPN11 | Life Sciences & Biomedicine | Science & Technology | Mouth Mucosa - cytology | Leukemia, Myelomonocytic, Juvenile - pathology | Nails | Gene Frequency | Humans | Infant | Male | Leukemia, Myelomonocytic, Juvenile - surgery | Cord Blood Stem Cell Transplantation | Bone Marrow Cells | Mosaicism | Protein Tyrosine Phosphatase, Non-Receptor Type 1 - genetics | Leukemia, Myelomonocytic, Juvenile - genetics | Mutation | Care and treatment | Genetic aspects | Transplantation | Leukemia | Stem cells | Index Medicus
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8. Full Text Hematopoietic Cell Transplantation for Chronic Granulomatous Disease in Japan
by Yanagimachi, Masakatsu and Kato, Koji and Iguchi, Akihiro and Sasaki, Koji and Kiyotani, Chikako and Koh, Katsuyoshi and Koike, Takashi and Sano, Hideki and Shigemura, Tomonari and Muramatsu, Hideki and Okada, Keiko and Inoue, Masami and Tabuchi, Ken and Nishimura, Toyoki and Mizukami, Tomoyuki and Nunoi, Hiroyuki and Imai, Kohsuke and Kobayashi, Masao and Morio, Tomohiro
Frontiers in immunology, ISSN 1664-3224, 07/2020, Volume 11, pp. 1617 - 1617
low-dose irradiation | CYBB | adult | hematopoietic cell transplantation | cord blood transplantation | chronic granulomatous disease | Life Sciences & Biomedicine | Immunology | Science & Technology | Chronic granulomatous disease | Care and treatment | Transplantation | Hematopoietic stem cells | Index Medicus
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9. Full Text Spliceosomal gene mutations are frequent events in the diverse mutational spectrum of chronic myelomonocytic leukemia but largely absent in juvenile myelomonocytic leukemia
by Sarah Abu Kar and Anna Jankowska and Hideki Makishima and Valeria Visconte and Andres Jerez and Yuka Sugimoto and Hideki Muramatsu and Fabiola Traina and Manuel Afable and Kathryn Guinta and Ramon V. Tiu and Bartlomiej Przychodzen and Hirotoshi Sakaguchi and Seiji Kojima and Mikkael A. Sekeres and Alan F. List and Michael A. McDevitt and Jaroslaw P. Maciejewski
Haematologica (Roma), ISSN 0390-6078, 01/2013, Volume 98, Issue 1, pp. 107 - 113
Life Sciences & Biomedicine | Hematology | Science & Technology | Leukemia, Myelomonocytic, Chronic - diagnosis | Spliceosomes - genetics | Humans | Leukemia, Myelomonocytic, Chronic - genetics | Middle Aged | Child, Preschool | Infant | Male | Mutation - genetics | Leukemia, Myelomonocytic, Juvenile - diagnosis | Aged, 80 and over | Polymorphism, Single Nucleotide - genetics | Adult | Female | Aged | Leukemia, Myelomonocytic, Juvenile - genetics | Child | Index Medicus
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10. Full Text Haploinsufficiency of TNFAIP3 ( A20 ) by germline mutation is involved in autoimmune lymphoproliferative syndrome
by Takagi, Masatoshi, MD, PhD and Ogata, Shohei, MD, PhD and Ueno, Hiroo, MD and Yoshida, Kenichi, MD, PhD and Yeh, Tzuwen, BSc and Hoshino, Akihiro, MD, PhD and Piao, Jinhua, DDS, PhD and Yamashita, Motoy, MD and Nanya, Mai, PhD and Okano, Tsubasa, MD and Kajiwara, Michiko, MD, PhD and Kanegane, Hirokazu, MD, PhD and Muramatsu, Hideki, MD, PhD and Okuno, Yusuke, MD, PhD and Shiraishi, Yuichi, MD, PhD and Chiba, Kenichi, BA and Tanaka, Hiroko, BS and Bando, Yuki, MD, PhD and Kato, Motohiro, MD, PhD and Hayashi, Yasuhide, MD, PhD and Miyano, Satoru, PhD and Imai, Kohsuke, MD, PhD and Ogawa, Seishi, MD, PhD and Kojima, Seiji, MD, PhD and Morio, Tomohiro, MD, PhD
Journal of allergy and clinical immunology, ISSN 0091-6749, 2016, Volume 139, Issue 6, pp. 1914 - 1922
Allergy and Immunology | TNFAIP3 (A20) | Autoimmune lymphoproliferative syndrome | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Humans | Cells, Cultured | NF-kappa B - immunology | Infant | Male | Haploinsufficiency | Tumor Necrosis Factor alpha-Induced Protein 3 - genetics | Phenotype | Autoimmune Lymphoproliferative Syndrome - genetics | Leukocytes, Mononuclear - immunology | Autoimmune Lymphoproliferative Syndrome - immunology | Germ-Line Mutation | Tumor Necrosis Factor alpha-Induced Protein 3 - immunology | Gene mutations | Developmental biology | Analysis | Genomics | Genetic research | Genetic aspects | Information management | Children | Health aspects | Diseases | Pediatrics | Fas antigen | Disease | Transcription | Genes | Science | Frameshift mutation | Genomes | Kinases | Gene sequencing | Proteins | Signal transduction | Alterations | Functional anatomy | Databases | Pathways | Lymphocytes | Immunoglobulins | Patients | Tumor necrosis factor | Mutation | Autoimmune diseases | Apoptosis | Index Medicus | Abridged Index Medicus
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11. Full Text Angiogenesis induced by CNS inflammation promotes neuronal remodeling through vessel-derived prostacyclin
by Muramatsu, Rieko and Takahashi, Chisato and Miyake, Shuzo and Fujimura, Harutoshi and Mochizuki, Hideki and Yamashita, Toshihide
Nature medicine, ISSN 1078-8956, 11/2012, Volume 18, Issue 11, pp. 1658 - 1664
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Cell Biology | Research & Experimental Medicine | Inflammation - pathology | Epoprostenol - metabolism | Central Nervous System - metabolism | Encephalomyelitis, Autoimmune, Experimental - metabolism | Iloprost - pharmacology | Humans | Central Nervous System - pathology | Receptors, Prostaglandin - metabolism | Motor Neurons - pathology | Epoprostenol - physiology | Inflammation - metabolism | Pyramidal Tracts - metabolism | Receptors, Prostaglandin - antagonists & inhibitors | Motor Neurons - drug effects | Pyramidal Tracts - growth & development | Encephalomyelitis, Autoimmune, Experimental - pathology | Signal Transduction | Endothelial Cells - metabolism | Cells, Cultured | Nerve Regeneration | Motor Neurons - metabolism | Animals | Receptors, Prostaglandin - agonists | Endothelial Cells - cytology | Multiple Sclerosis - pathology | Mice | Neovascularization, Physiologic | Central nervous system | Physiological aspects | Development and progression | Prostacyclin | Genetic aspects | Inflammation | Research | Risk factors | Angiogenesis | Models | Neurons | Inflammatory diseases | Index Medicus
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12. Full Text ACTN1 Mutations Cause Congenital Macrothrombocytopenia
by Kunishima, Shinji and Okuno, Yusuke and Yoshida, Kenichi and Shiraishi, Yuichi and Sanada, Masashi and Muramatsu, Hideki and Chiba, Kenichi and Tanaka, Hiroko and Miyazaki, Koji and Sakai, Michio and Ohtake, Masatoshi and Kobayashi, Ryoji and Iguchi, Akihiro and Niimi, Gen and Otsu, Makoto and Takahashi, Yoshiyuki and Miyano, Satoru and Saito, Hidehiko and Kojima, Seiji and Ogawa, Seishi
American journal of human genetics, ISSN 0002-9297, 03/2013, Volume 92, Issue 3, pp. 431 - 438
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Cricetinae | Genetic Predisposition to Disease | Humans | Asian Continental Ancestry Group - genetics | Cytoskeleton - genetics | Male | Thrombocytopenia - blood | Thrombocytopenia - metabolism | <