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1. Full Text Genomic studies of marrow failure
by Shimamura, Akiko
Experimental Hematology, ISSN 0301-472X, 2015, Volume 43, Issue 9, pp. S37 - S37
Hematology, Oncology and Palliative Medicine | Advanced Basic Science | Genetic research
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2. Full Text Clinical Spectrum and Molecular Pathophysiology of Shwachman-Diamond Syndrome
by Shimamura, Akiko
Blood, ISSN 0006-4971, 11/2013, Volume 122, Issue 21, pp. SCI-34 - SCI-34
Abstract Shwachman-Diamond Syndrome (SDS) is an inherited marrow failure syndrome associated with exocrine pancreatic dysfunction and leukemia predisposition.... 
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3. Full Text It’s ALL in the Family: IKZF1 and Hereditary Leukemia
by Kamihara, Junne and Shimamura, Akiko
Cancer Cell, ISSN 1535-6108, 05/2018, Volume 33, Issue 5, pp. 798 - 800
plays an essential role in lymphopoiesis, and somatic variants in acute lymphoblastic leukemia (ALL) are associated with poor prognosis. In this issue of ,... 
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4. Full Text Aplastic anemia and clonal evolution: Germ line and somatic genetics
by Shimamura, Akiko
Hematology, ISSN 1520-4391, 2016, Volume 2016, Issue 1, pp. 74 - 82
Clonal progression to myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML) remains a dreaded complication for a subset of patients with bone marrow... 
CLINICAL PRESENTATION | SHWACHMAN-DIAMOND SYNDROME | DYSKERATOSIS-CONGENITA | MYELOID-LEUKEMIA | PAROXYSMAL-NOCTURNAL HEMOGLOBINURIA | GATA2 DEFICIENCY | HEMATOLOGY | FANCONI-ANEMIA | EDUCATION, SCIENTIFIC DISCIPLINES | BONE-MARROW FAILURE | MYELODYSPLASTIC SYNDROMES | TELOMERE LENGTH | Anemia, Aplastic - diagnosis | Myelodysplastic Syndromes - diagnosis | Leukemia, Myeloid, Acute - diagnosis | Humans | Genetic Diseases, Inborn - genetics | Germ-Line Mutation | Myelodysplastic Syndromes - genetics | Genetic Diseases, Inborn - diagnosis | Anemia, Aplastic - genetics | Leukemia, Myeloid, Acute - genetics | Bone Marrow Failures
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5. Full Text Marrow failure: A window into ribosome biology
by Ruggero, Davide and Shimamura, Akiko
Blood, ISSN 0006-4971, 10/2014, Volume 124, Issue 18, pp. 2784 - 2792
Diamond-Blackfan anemia, Shwachman-Diamond syndrome, and dyskeratosis congenita are inherited syndromes characterized by marrow failure, congenital anomalies,... 
SMALL NUCLEOLAR RNAS | DNA-DAMAGE RESPONSE | MOUSE MODEL | MITOTIC SPINDLE | LINKED DYSKERATOSIS-CONGENITA | SYNDROME PROTEIN | SHWACHMAN-DIAMOND-SYNDROME | HEMATOLOGY | BLACKFAN ANEMIA PATIENTS | L-LEUCINE IMPROVES | HEMATOPOIETIC STEM | Protein Biosynthesis | Animals | Models, Biological | Bone Marrow - pathology | Humans | Ribosomes - metabolism | Bone Marrow Diseases - pathology | Bone Marrow Diseases - genetics | 100 | Review Series | Bone Marrow Failure
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6. Full Text Clinical approach to marrow failure
by Shimamura, Akiko
Hematology / the Education Program of the American Society of Hematology. American Society of Hematology. Education Program, ISSN 1520-4391, 2009, Volume 2009, Issue 1, pp. 329 - 337
The treatment and medical management of aplastic anemia fundamentally differ between patients with inherited versus acquired marrow failure; however, the... 
Bone Marrow Diseases - diagnosis | Genomic Instability | Medical History Taking | Bone Marrow Diseases - blood | Humans | Immunosuppressive Agents - therapeutic use | Male | Anemia, Aplastic - blood | Genetic Counseling | Anemia, Aplastic - therapy | Transplantation, Homologous | Anemia, Aplastic - diagnosis | Molecular Diagnostic Techniques | Bone Marrow Diseases - therapy | Adult | Androgens - therapeutic use | Female | Child | Anemia, Aplastic - genetics | Hematopoietic Stem Cell Transplantation | Neoplastic Syndromes, Hereditary - diagnosis | Bone Marrow Examination | Bone Marrow Diseases - genetics | Pregnancy | Models, Biological | Abnormalities, Multiple - diagnosis | Neoplastic Syndromes, Hereditary - therapy | Physical Examination | Disease Management
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7. Full Text Germline genetic predisposition to hematologic malignancy
by Furutani, Elissa and Shimamura, Akiko
Journal of Clinical Oncology, ISSN 0732-183X, 03/2017, Volume 35, Issue 9, pp. 1018 - 1028
Development of hematologic malignancies is driven by mutations that may be somatic or germline. Availability of next-generation DNA sequencing technologies has... 
ONCOLOGY | SEVERE CONGENITAL NEUTROPENIA | GENOMIC ANALYSIS | I TREAT | MUTATIONS | LEUKEMIA | FANCONI-ANEMIA | MYELODYSPLASTIC SYNDROME | CANCER | BONE-MARROW FAILURE | DEFICIENCY | Germ-Line Mutation | Genetic Predisposition to Disease | Hematologic Neoplasms - genetics | High-Throughput Nucleotide Sequencing - methods | Humans | Genetic epidemiology | Translational Oncology | Hereditary Cancers & Genetic Predisposition | SPECIAL SERIES REVIEW
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8. Full Text Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy
by Zhang, Michael Y and Churpek, Jane E and Keel, Siobán B and Walsh, Tom and Lee, Ming K and Loeb, Keith R and Gulsuner, Suleyman and Pritchard, Colin C and Sanchez-Bonilla, Marilyn and Delrow, Jeffrey J and Basom, Ryan S and Forouhar, Melissa and Gyurkocza, Boglarka and Schwartz, Bradford S and Neistadt, Barbara and Marquez, Rafael and Mariani, Christopher J and Coats, Scott A and Hofmann, Inga and Lindsley, R. Coleman and Williams, David A and Abkowitz, Janis L and Horwitz, Marshall S and King, Mary-Claire and Godley, Lucy A and Shimamura, Akiko
Nature Genetics, ISSN 1061-4036, 01/2015, Volume 47, Issue 2, pp. 180 - 185
We report germline missense mutations in ETV6 segregating with the dominant transmission of thrombocytopenia and hematologic malignancy in three unrelated... 
Protein Structure, Tertiary | Cell Proliferation | Proto-Oncogene Proteins c-ets - genetics | Humans | Models, Molecular | Molecular Sequence Data | Repressor Proteins - genetics | Exons - genetics | Male | Mutation, Missense | Recombinant Proteins | Thrombocytopenia - genetics | Sequence Analysis, RNA | Pedigree | Germ-Line Mutation | Female | Hematologic Neoplasms - genetics | HeLa Cells | Genes, Reporter | Thrombocytopenia | Genetic aspects | Gene mutations | Blood diseases | Health aspects | Oncogenes | Bone marrow | Medical research | Mutation | Leukemia | Binding sites | Index Medicus
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9. Full Text Hadal biosphere
: Insight into the microbial ecosystem in the deepest ocean on Earth
by Takuro Nunoura and Yoshihiro Takaki and Miho Hirai and Shigeru Shimamura and Akiko Makabe and Osamu Koide and Tohru Kikuchi and Junichi Miyazaki and Keisuke Koba and Naohiro Yoshida and Michinari Sunamura and Ken Takai
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 3/2015, Volume 112, Issue 11, pp. E1230 - E1236
Hadal oceans at water depths below 6,000 m are the least-explored aquatic biosphere. The Challenger Deep, located in the western equatorial Pacific, with a... 
Trench | Hadal | Challenger deep | Niche separation | Nitrification | BACTERIA | trench | MARIANA TRENCH | MULTIDISCIPLINARY SCIENCES | Challenger Deep | DARK | niche separation | NITRIFYING ARCHAEA | FRESH-WATER | ABUNDANCE | hadal | COMMUNITY | nitrification | DIVERSITY | AMMONIA OXIDATION | Oceans and Seas | Temperature | Molecular Sequence Data | Heterotrophic Processes | Bacteria - genetics | RNA, Ribosomal - genetics | Salinity | Ribosome Subunits, Small - genetics | Bacteria - growth & development | Prokaryotic Cells - metabolism | Ecosystem | Archaea - genetics | Earth (Planet) | Archaea - growth & development | Research | Deep ecology | Biogeochemical cycles | Analysis | Biological Sciences | PNAS Plus
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10. Full Text Genetic predisposition to hematologic malignancies: Management and surveillance
by Godley, Lucy A and Shimamura, Akiko
Blood, ISSN 0006-4971, 07/2017, Volume 130, Issue 4, pp. 424 - 432
As individuals with germ line predisposition to hematologic malignancies are diagnosed with increasing frequency, the need for clinical surveillance has become... 
GERM-LINE | SHWACHMAN-DIAMOND SYNDROME | SEVERE CONGENITAL NEUTROPENIA | DYSKERATOSIS-CONGENITA | GENOMIC ANALYSIS | MUTATIONS | HEMATOLOGY | APLASTIC-ANEMIA | FANCONI-ANEMIA | BONE-MARROW FAILURE | MYELODYSPLASTIC SYNDROMES | Leukemia - diagnosis | Hematologic Neoplasms - diagnosis | Genetic Predisposition to Disease | Hematologic Neoplasms - genetics | Humans | Leukemia - genetics | Review Series | Precision Hematology
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11. Full Text Shwachman-Diamond Syndrome
by Shimamura, Akiko
Seminars in Hematology, ISSN 0037-1963, 2006, Volume 43, Issue 3, pp. 178 - 188
Shwachman-Diamond syndrome (SDS) is an autosomal recessive marrow failure syndrome associated with exocrine pancreatic insufficiency and leukemia... 
HEPATIC DYSFUNCTION | SEVERE CHRONIC NEUTROPENIA | MALIGNANT-TRANSFORMATION | BONE-MARROW-TRANSPLANTATION | CHROMOSOME BREAKAGE | CONGENITAL NEUTROPENIA | ACUTE MYELOID-LEUKEMIA | STEM-CELL TRANSPLANTATION | HEMATOLOGY | APLASTIC-ANEMIA | EXOCRINE PANCREATIC DYSFUNCTION | Exocrine Pancreatic Insufficiency - genetics | Proteins - genetics | Bone Marrow Diseases - diagnosis | Proteins - metabolism | Bone Marrow Diseases - therapy | Humans | Bone Marrow Diseases - genetics | Leukemia - genetics | Syndrome
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12. Full Text Pathophysiology and management of inherited bone marrow failure syndromes
by Shimamura, Akiko and Alter, Blanche P
Blood Reviews, ISSN 0268-960X, 2010, Volume 24, Issue 3, pp. 101 - 122
Abstract The inherited marrow failure syndromes are a diverse set of genetic disorders characterized by hematopoietic aplasia and cancer predisposition. The... 
Hematology, Oncology and Palliative Medicine | Dyskeratosis congenita | Fanconi | Diamond–Blackfan anemia | Aplastic anemia | Shwachman–Diamond syndrome | Inherited bone marrow failure syndromes | Diamond-Blackfan anemia | Shwachman-Diamond syndrome | COLONY-STIMULATING FACTOR | DNA-DAMAGE RESPONSE | SEVERE CONGENITAL NEUTROPENIA | SHWACHMAN-DIAMOND-SYNDROME | ACQUIRED APLASTIC-ANEMIA | UNFOLDED PROTEIN RESPONSE | FANCONI-ANEMIA PATIENTS | STEM-CELL TRANSPLANTATION | IDIOPATHIC PULMONARY-FIBROSIS | HEMATOLOGY | TELOMERASE REVERSE-TRANSCRIPTASE | Bone Marrow Diseases - diagnosis | Bone Marrow Diseases - therapy | Humans | Genetic Diseases, Inborn - genetics | Bone Marrow Diseases - metabolism | Genetic Diseases, Inborn - metabolism | Genetic Diseases, Inborn - physiopathology | Genetic Diseases, Inborn - therapy | Bone Marrow Diseases - physiopathology | Bone Marrow Diseases - genetics | Syndrome | Anemia | Genetic aspects | aplastic anemia | inherited bone marrow failure syndromes
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13. Full Text It's ALL in the Family: IKZF1 and Hereditary Leukemia
by Kamihara, Junne and Shimamura, Akiko
Cancer Cell, ISSN 1535-6108, 05/2018, Volume 33, Issue 5, pp. 798 - 800
IKZF1 plays an essential role in lymphopoiesis, and somatic IKZF1 variants in acute lymphoblastic leukemia (ALL) are associated with poor prognosis. In this... 
ONCOLOGY | GENETIC PREDISPOSITION | IKAROS | ACUTE LYMPHOBLASTIC-LEUKEMIA | SUSCEPTIBILITY | CELL BIOLOGY | Leukemia | Genetic aspects
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14. ETV6 in hematopoiesis and leukemia predisposition
by Hock, Hanno and Shimamura, Akiko
Seminars in Hematology, ISSN 0037-1963, 04/2017, Volume 54, Issue 2, pp. 98 - 104
The ETV6 (also known as TEL) gene encodes a transcriptional repressor that plays a critical role in hematopoiesis and in embryonic development. While somatic... 
Thrombocytopenia | ALL | TEL | Platelets | MDS | ETV6 | DNA-BINDING | PROTEIN | PUTATIVE TUMOR-SUPPRESSOR | RAS-TRANSFORMED-CELLS | TEL ETV6 | FAMILY TRANSCRIPTION FACTOR | GENETIC-VARIATION | ACUTE LYMPHOBLASTIC-LEUKEMIA | MUTATIONS | HEMATOLOGY | Pregnancy | Leukemia - pathology | Proto-Oncogene Proteins c-ets - genetics | Humans | Germ-Line Mutation | Repressor Proteins - genetics | Female | Hematopoiesis - genetics | Leukemia - genetics
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15. Full Text Inherited bone marrow failure syndromes: molecular features
by Shimamura, Akiko
Hematology / the Education Program of the American Society of Hematology. American Society of Hematology. Education Program, ISSN 1520-4391, 2006, Volume 2006, Issue 1, pp. 63 - 71
Recent advances resulting from the identification of the genes responsible for four inherited marrow failure syndromes, Fanconi anemia, dyskeratosis congenita,... 
Bone Marrow Diseases - diagnosis | Anemia, Diamond-Blackfan - genetics | Humans | Family Health | Fanconi Anemia - genetics | Dyskeratosis Congenita - genetics | Bone Marrow Diseases - genetics | Syndrome
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16. Full Text Neutropenia in the age of genetic testing: Advances and challenges
by Furutani, Elissa and Newburger, Peter E and Shimamura, Akiko
American Journal of Hematology, ISSN 0361-8609, 03/2019, Volume 94, Issue 3, pp. 384 - 393
Identification of genetic causes of neutropenia informs precision medicine approaches to medical management and treatment. Accurate diagnosis of genetic... 
CXCR4 ANTAGONIST PLERIXAFOR | MUTATIONS CAUSE | CLINICAL PRESENTATION | SEVERE CONGENITAL NEUTROPENIA | SHWACHMAN-DIAMOND SYNDROME | GENOMIC ANALYSIS | GUANINE-NUCLEOTIDE EXCHANGE | MIRAGE SYNDROME | HEMATOLOGY | MYELODYSPLASTIC SYNDROME | BONE-MARROW FAILURE | Kidney diseases | Health aspects | Genetic screening | Neutropenia
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