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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
Juvenile myelomonocytic leukemia (JMML) is an intractable pediatric leukemia with poor prognosis(1) whose molecular pathogenesis is poorly understood, except... 
TRANSIENT MYELOPROLIFERATIVE DISORDER | THERAPY | ALIGNMENT | VARIANTS | DOWN-SYNDROME | DISEASE | GENETICS & HEREDITY | ACUTE MEGAKARYOBLASTIC LEUKEMIA | MYELOID-LEUKEMIA | LYMPHOBLASTIC-LEUKEMIA | CHILDREN | 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
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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
Here we report whole-exome sequencing of individuals with various myeloid malignancies and identify recurrent somatic mutations in SETBP1, consistent with a... 
ACTIVATION | RAS | C-CBL | GENETICS & HEREDITY | TET2 | UNIPARENTAL DISOMY | LEUKEMIA | 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 | Data bases | DNA methylation | Software | Deoxyribonucleic acid--DNA | 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
Purpose Acquired somatic uniparental disomy (UPD) is commonly observed in myelodysplastic syndromes (MDS), myelodysplastic/myeloproliferative neoplasms... 
RARS-T | AML | ACTIVATING MUTATION | MYELOPROLIFERATIVE DISORDERS | ONCOLOGY | C-CBL | CHROMOSOMAL LESIONS | TYROSINE KINASE JAK2 | JAK2 V617F MUTATION | LEUKEMIA | HEMATOLOGIC MALIGNANCIES | 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 | Original Reports | Hema4 | Hema9
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4. Inherited bone marrow failure syndrome: management and diagnostic advances utilizing next-generation sequencing
by Muramatsu, Hideki
[Rinsho ketsueki] The Japanese journal of clinical hematology, ISSN 0485-1439, 2018, Volume 59, Issue 6, p. 716
Inherited bone marrow failure syndromes (IBMFS) are part of a heterogeneous disease category in which at least one hematopoietic cell lineage is reduced in the... 
Anemia, Aplastic - diagnosis | Bone Marrow Diseases - diagnosis | Bone Marrow Diseases - therapy | Humans | High-Throughput Nucleotide Sequencing | Hemoglobinuria, Paroxysmal - therapy | Hemoglobinuria, Paroxysmal - diagnosis | Anemia, Aplastic - therapy
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5. Genetic predisposition to pediatric myeloid malignancies
by Muramatsu, Hideki
[Rinsho ketsueki] The Japanese journal of clinical hematology, ISSN 0485-1439, 06/2016, Volume 57, Issue 6, pp. 730 - 735
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6. Genetic predisposition to pediatric myeloid malignancies
by Muramatsu, Hideki
[Rinsho ketsueki] The Japanese journal of clinical hematology, ISSN 0485-1439, 06/2016, Volume 57, Issue 6, p. 730
Various genetic disorders are known to be associated with cancer predisposition. For example, children with Down syndrome are predisposed to developing acute... 
Genetic Predisposition to Disease | DNA Mismatch Repair | Humans | Down Syndrome - complications | Hematologic Neoplasms - genetics | Myelodysplastic Syndromes - genetics | Child | Myeloproliferative Disorders - genetics
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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
After allogeneic stem-cell transplantation, nonhematopoietic tissues contain donor-derived cells; however, whether cells from malignant hematological disease... 
Medicine & Public Health | Hematology | Somatic mosaicism | Nonhematological tissue | Cord blood transplantation | Oncology | Juvenile myelomonocytic leukemia | PTPN11 | MYELOID-LEUKEMIA | RECIPIENTS | HEMATOLOGY | MYELODYSPLASTIC SYNDROMES | 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
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8. 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, ISSN 0390-6078, 01/2013, Volume 98, Issue 1, pp. 107 - 113
Chronic myelomonocytic leukemia is a heterogeneous disease with multifactorial molecular pathogenesis. Various recurrent somatic mutations have been detected... 
PATHWAY | MACHINERY | TET2 | RETROSPECTIVE ANALYSIS | SF3B1 MUTATIONS | ABERRATIONS | HEMATOLOGY | CHILDHOOD | MYELODYSPLASTIC SYNDROMES | MOLECULAR MUTATIONS | REVEALS | 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
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9. 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, Motohiro 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, Yuzaburo and Inoue, Masami and Kimoto, Tomiko and Moriguchi, Naohiko and Yuza, Yuki and Kaneko, Takashi and Suzuki, Osamu 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 Shirakawa, Toshihiko 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, Seiji and Kojima, Daiei and Muramatsu, Hideki and Wada, Taizo and Takada, Hidetoshi and Ogawa, Seishi and Ohara, Osamu and Nonoyama, Shigeaki and Morio, Tomohiro
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 01/2019, Volume 143, Issue 1, pp. 266 - 275
Activated phosphatidylinositol-3-OH kinase δ syndrome type 1 (APDS1) is a recently described primary immunodeficiency syndrome characterized by recurrent... 
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 | EXCISION CIRCLES | QUANTIFICATION | Activated phosphatidylinositol-3-OH kinase delta syndrome type 1 | IMMUNOLOGY | IDENTIFICATION | FEATURES | GENE | ALLERGY | MUTATION | Adolescence | 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 | Hemopoiesis | Rejection | Grafts | Fludarabine | Medical prognosis | Stem cells | Lymphomas | Mutation
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10. Full Text Aberrant DNA methylation is associated with a poor outcome in Juvenile myelomonocytic leukemia
by Sakaguchi, Hirotoshi and Muramatsu, Hideki and Okuno, Yusuke and Makishima, Hideki and Xu, Yinyan and Furukawa-Hibi, Yoko and Wang, Xinan and Narita, Atsushi and Yoshida, Kenichi and Shiraishi, Yuichi and Doisaki, Sayoko and Yoshida, Nao and Hama, Asahito and Takahashi, Yoshiyuki and Yamada, Kiyofumi and Miyano, Satoru and Ogawa, Seishi and Maciejewski, Jaroslaw P and Kojima, Seiji
PLoS ONE, ISSN 1932-6203, 12/2015, Volume 10, Issue 12, p. e0145394
Juvenile myelomonocytic leukemia (JMML), an overlap of myelodysplastic / myeloproliferative neoplasm, is an intractable pediatric myeloid neoplasm. Epigenetic... 
PROFILE | GENE | SETBP1 | P16 | PROMOTER METHYLATION | MULTIDISCIPLINARY SCIENCES | ACUTE LYMPHOBLASTIC-LEUKEMIA | MALIGNANCIES | PEDIATRIC MYELODYSPLASTIC SYNDROME | ACUTE MYELOID-LEUKEMIA | MUTATIONS | Multivariate Analysis | Genetic Association Studies | Humans | Child, Preschool | Infant | Male | Treatment Outcome | DNA Methylation - genetics | Mutation - genetics | Adolescent | Survival Analysis | Female | Leukemia, Myelomonocytic, Juvenile - genetics | Child | Cohort Studies | Genetic aspects | Methylation | Health aspects | Leukemia in children | Patient outcomes | Pediatrics | Bisulfite | Laboratories | Pathogenesis | Leukemia | Genes | Gene regulation | Stem cell transplantation | Oncology | Transplantation | Biology | Genomes | Kinases | Medical diagnosis | Hematopoietic stem cells | DNA methylation | Bone marrow | Deoxyribonucleic acid--DNA | University graduates | CpG islands | Repressing | Myelomonocytic leukemia | Bone morphogenetic protein 4 | Hematology | Cyclin-dependent kinases | Gene expression | Patients | Survival | Hemopoiesis | Medicine | Studies | Pathology | Pharmacy | DNA methyltransferase | Tumor suppressor genes | Mutation | Aberration | Tumors | Cancer | Deoxyribonucleic acid | DNA
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11. 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, The, ISSN 0091-6749, 2016, Volume 139, Issue 6, pp. 1914 - 1922
Background Autoimmune diseases in children are rare and can be difficult to diagnose. Autoimmune lymphoproliferative syndrome (ALPS) is a well-characterized... 
Allergy and Immunology | TNFAIP3 (A20) | Autoimmune lymphoproliferative syndrome | APOPTOSIS | CELLS | LOSS-OF-FUNCTION | HUMANS | IMMUNOLOGY | DEFICIENCY | IMMUNE DYSREGULATION | ALLERGY | DISEASE | CTLA4 | INFECTION | NF-KAPPA-B | 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 | Data bases | Gene sequencing | Proteins | Signal transduction | Alterations | Functional anatomy | Pathways | Lymphocytes | Immunoglobulins | Patients | Tumor necrosis factor | Mutation | Autoimmune diseases | Apoptosis
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12. 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
The electrochemical exfoliation of graphite has attracted considerable attention as a method for large-scale, rapid production of graphene and graphene oxide... 
Graphene oxide | Anode | Graphene | Bipolar electrochemistry | Graphite | Electrochemical exfoliation | ELECTROCHEMISTRY | GRAPHENE PRODUCTION | SCIENCE | EFFICIENT | SHEETS
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13. 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
Chronic myelomonocytic leukemia (CMML) and atypical chronic myeloid leukemia (aCML) are distinct, yet related, entities of myelodysplastic/myeloproliferative... 
CHRONIC MYELOGENOUS LEUKEMIA | ACTIVATING MUTATION | GAIN-OF-FUNCTION | ONCOLOGY | TET2 MUTATIONS | RAS MUTATIONS | METHYLTRANSFERASE GENE EZH2 | MYELOPROLIFERATIVE NEOPLASMS | ISOCITRATE-DEHYDROGENASE 1 | UNIPARENTAL DISOMY | MYELODYSPLASTIC SYNDROMES | 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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14. 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
Angiogenesis is a prominent feature of central nervous system (CNS) disease and has roles in both the continued promotion of inflammation and the subsequent... 
MEDICINE, RESEARCH & EXPERIMENTAL | EXPERIMENTAL AUTOIMMUNE ENCEPHALOMYELITIS | REGENERATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | RATS | CONNECTIONS | GUIDANCE | CELL BIOLOGY | CORTICOSPINAL NEURONS | RECOVERY | MULTIPLE-SCLEROSIS | SPINAL-CORD-INJURY | ANIMAL-MODEL | 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
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15. Full Text The landscape of somatic mutations in Down syndrome-related myeloid disorders
by Yoshida, Kenichi and Toki, Tsutomu and Okuno, Yusuke and Kanezaki, Rika and Shiraishi, Yuichi and Sato-Otsubo, Aiko and Sanada, Masashi and Park, Myoung-Ja and Terui, Kiminori and Suzuki, Hiromichi and Kon, Ayana and Nagata, Yasunobu and Sato, Yusuke and Wang, RuNan and Shiba, Norio and Chiba, Kenichi and Tanaka, Hiroko and Hama, Asahito and Muramatsu, Hideki and Hasegawa, Daisuke and Nakamura, Kazuhiro and Kanegane, Hirokazu and Tsukamoto, Keiko and Adachi, Souichi and Kawakami, Kiyoshi and Kato, Koji and Nishimura, Ryosei and Izraeli, Shai and Hayashi, Yasuhide and Miyano, Satoru and Kojima, Seiji and Ito, Etsuro and Ogawa, Seishi
Nature Genetics, ISSN 1061-4036, 11/2013, Volume 45, Issue 11, pp. 1293 - 1301
Transient abnormal myelopoiesis (TAM) is a myeloid proliferation resembling acute megakaryoblastic leukemia (AMKL), mostly affecting perinatal infants with... 
TRANSIENT MYELOPROLIFERATIVE DISORDER | 17Q21.31 MICRODELETION SYNDROME | ACUTE LYMPHOBLASTIC-LEUKEMIA | DOWN-SYNDROME | GENETICS & HEREDITY | ACUTE MEGAKARYOBLASTIC LEUKEMIA | GENE-EXPRESSION | COHESIN | KANSL1 CAUSE | SEQUENCING DATA | HUMAN CANCER | Cell Proliferation | Polycomb Repressive Complex 2 - genetics | Humans | Repressor Proteins - genetics | Gene Expression Profiling | Chromosomes, Human, Pair 21 - genetics | Myeloproliferative Disorders - genetics | Sequence Analysis, DNA | Enhancer of Zeste Homolog 2 Protein | Chromosomal Proteins, Non-Histone - genetics | Myeloid Cells | Down Syndrome - immunology | Leukemoid Reaction - genetics | Base Sequence | CCCTC-Binding Factor | Down Syndrome - genetics | GATA1 Transcription Factor - genetics | Cell Cycle Proteins - genetics | Leukemia, Megakaryoblastic, Acute - genetics | Nuclear Proteins - genetics | Development and progression | Genetic aspects | Down syndrome | Gene mutations | Identification and classification | Myelodysplastic syndromes | Genes | Technological change | Science | Epigenetics | Genomes | Mutation | Cancer
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16. Full Text Viral delivery of miR-196a ameliorates the SBMA phenotype via the silencing of CELF2
by Miyazaki, Yu and Adachi, Hiroaki and Katsuno, Masahisa and Minamiyama, Makoto and Jiang, Yue-Mei and Huang, Zhe and Doi, Hideki and Matsumoto, Shinjiro and Kondo, Naohide and Iida, Madoka and Tohnai, Genki and Tanaka, Fumiaki and Muramatsu, Shin-Ichi and Sobue, Gen
Nature Medicine, ISSN 1078-8956, 07/2012, Volume 18, Issue 7, pp. 1136 - 1141
Spinal and bulbar muscular atrophy (SBMA) is an inherited neurodegenerative disorder caused by the expansion of the polyglutamine (polyQ) tract of the androgen... 
MEDICINE, RESEARCH & EXPERIMENTAL | BIOCHEMISTRY & MOLECULAR BIOLOGY | NEURODEGENERATION | MICRORNAS | CELL BIOLOGY | ANDROGEN RECEPTOR PROTEIN | OVEREXPRESSION | MOTOR-NEURON DEGENERATION | SEQUENCE | MICE | TRANSGENIC MOUSE MODEL | BULBAR MUSCULAR-ATROPHY | PROGRESSION | MicroRNAs - therapeutic use | Dependovirus - genetics | Genetic Therapy | RNA-Binding Proteins - genetics | Humans | Middle Aged | Receptors, Androgen - metabolism | Molecular Sequence Data | Male | MicroRNAs - metabolism | RNA, Messenger - metabolism | Muscular Atrophy, Spinal - prevention & control | Gene Knockdown Techniques | Muscular Atrophy, Spinal - genetics | Base Sequence | HEK293 Cells | Nucleic Acid Conformation | CELF Proteins | RNA, Messenger - genetics | Gene Expression Regulation | Gene Silencing | Exons - genetics | Mutant Proteins - metabolism | Muscular Atrophy, Spinal - pathology | Nerve Tissue Proteins - genetics | RNA Stability - genetics | Nerve Tissue Proteins - metabolism | Phenotype | Rotarod Performance Test | Animals | Receptors, Androgen - genetics | Aged | Mice | MicroRNAs - genetics | MicroRNAs - chemistry | RNA-Binding Proteins - metabolism | Nervous system diseases | MicroRNA | Messenger RNA | Physiological aspects | Genetic aspects | Research | Risk factors | Genotype & phenotype | Rodents | Models
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