Akiko Nagamachi
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View article: Genotype-integrated single-cell transcriptome analysis reveals the role of DDX41 pR525H in a patient with myelodysplastic neoplasms
Genotype-integrated single-cell transcriptome analysis reveals the role of DDX41 pR525H in a patient with myelodysplastic neoplasms Open
View article: JMJD3-mediated senescence is required to overcome stress-inducedhematopoietic defects
JMJD3-mediated senescence is required to overcome stress-inducedhematopoietic defects Open
Cellular senescence in stem cells compromises regenerative capacity, promotes chronic inflammation, and is implicated in aging. Hematopoietic stem and progenitor cells (HSPCs) are responsible for producing mature blood cells, however, how …
View article: Utility of the Base Editing System for Introducing Drug-Resistant Gene Mutations Into Human Leukemia Cellular Models
Utility of the Base Editing System for Introducing Drug-Resistant Gene Mutations Into Human Leukemia Cellular Models Open
View article: Genotype-integrated single-cell transcriptome analysis of a myelodysplastic neoplasm case reveals the role of DDX41 p.R525H
Genotype-integrated single-cell transcriptome analysis of a myelodysplastic neoplasm case reveals the role of DDX41 p.R525H Open
DEAD-box helicase 41 (DDX41) is a key gene in germline-predisposed myeloid neoplasms, where pathogenic germline variants often lead to disease after acquiring a somatic mutation in trans. We conducted single-cell RNA sequencing combined wi…
View article: Age-Dependent Differences in Radiation-Induced DNA Damage Responses in Intestinal Stem Cells
Age-Dependent Differences in Radiation-Induced DNA Damage Responses in Intestinal Stem Cells Open
Age at exposure is a critical modifier of the risk of radiation-induced cancer. However, the effects of age on radiation-induced carcinogenesis remain poorly understood. In this study, we focused on tissue stem cells using Lgr5-eGFP-ires-C…
View article: JMJD3 mediated senescence is required to overcome stress induced hematopoietic defects
JMJD3 mediated senescence is required to overcome stress induced hematopoietic defects Open
Cellular senescence in stem cells compromises regenerative capacity, promotes chronic inflammation, and is implicated in aging. Hematopoietic stem and progenitor cells (HSPCs) are responsible for producing mature blood cells, however, how …
View article: Application of prime editing system to introduce <scp><i>TP53</i> R248Q</scp> hotspot mutation in acute lymphoblastic leukemia cell line
Application of prime editing system to introduce <span><i>TP53</i> R248Q</span> hotspot mutation in acute lymphoblastic leukemia cell line Open
In childhood acute lymphoblastic leukemia (ALL), TP53 gene mutation is associated with chemoresistance in a certain population of relapsed cases. To directly verify the association of TP53 gene mutation with chemoresistance of relapsed chi…
View article: DDX41 coordinates RNA splicing and transcriptional elongation to prevent DNA replication stress in hematopoietic cells
DDX41 coordinates RNA splicing and transcriptional elongation to prevent DNA replication stress in hematopoietic cells Open
View article: DDX41 coordinates RNA splicing and transcriptional elongation to prevent DNA replication stress in hematopoietic cells
DDX41 coordinates RNA splicing and transcriptional elongation to prevent DNA replication stress in hematopoietic cells Open
Myeloid malignancies with DDX41 mutations are often associated with bone marrow failure and cytopenia before overt disease manifestation. However, the mechanisms underlying these specific conditions remain elusive. Here, we demonstrate tha…
View article: Revertant somatic mosaicism as a cause of cancer
Revertant somatic mosaicism as a cause of cancer Open
Revertant (somatic) mosaicism is a spontaneous correction of a causative mutation in patients with congenital diseases. A relatively frequent event, revertant mosaicism may bring favorable outcomes that ameliorate disorders, and is therefo…
View article: Multiorgan failure with abnormal receptor metabolism in mice mimicking Samd9/9L syndromes
Multiorgan failure with abnormal receptor metabolism in mice mimicking Samd9/9L syndromes Open
Autosomal dominant sterile α motif domain containing 9 (Samd9) and Samd9L (Samd9/9L) syndromes are a large subgroup of currently established inherited bone marrow failure syndromes that includes myelodysplasia, infection, growth restrictio…
View article: UTX maintains the functional integrity of the murine hematopoietic system by globally regulating aging-associated genes
UTX maintains the functional integrity of the murine hematopoietic system by globally regulating aging-associated genes Open
Epigenetic regulation is essential for the maintenance of the hematopoietic system, and its deregulation is implicated in hematopoietic disorders. In this study, UTX, a demethylase for lysine 27 on histone H3 (H3K27) and a component of COM…
View article: Association between low doses of ionizing radiation, administered acutely or chronically, and time to onset of stroke in a rat model
Association between low doses of ionizing radiation, administered acutely or chronically, and time to onset of stroke in a rat model Open
Exposure to high-doses of ionizing radiation has been reported to be associated with the risk of stroke. However, risks associated with lower dose exposures remain unclear, and there is little information available for the risk modificatio…
View article: Association of aberrant<i>ASNS</i>imprinting with asparaginase sensitivity and chromosomal abnormality in childhood BCP-ALL
Association of aberrant<i>ASNS</i>imprinting with asparaginase sensitivity and chromosomal abnormality in childhood BCP-ALL Open
Karyotype is an important prognostic factor in childhood B-cell precursor acute lymphoblastic leukemia (BCP-ALL), but the underlying pharmacogenomics remain unknown. Asparaginase is an integral component in current chemotherapy for childho…
View article: Effects of Radiation on Blood Pressure and Body Weight in the Spontaneously Hypertensive Rat Model. Are Radiation Effects on Blood Pressure Affected by Genetic Background?
Effects of Radiation on Blood Pressure and Body Weight in the Spontaneously Hypertensive Rat Model. Are Radiation Effects on Blood Pressure Affected by Genetic Background? Open
In this work, we utilized spontaneously hypertensive rats (SHR) and Wister Kyoto rats (WKY), from which the SHR was established, to evaluate the effects of whole-body acute radiation on the cardiovascular system at doses from 0 to 4 Gy. In…
View article: Kinetics of cytokine receptor internalization under steady-state conditions affects growth of neighboring blood cells
Kinetics of cytokine receptor internalization under steady-state conditions affects growth of neighboring blood cells Open
View article: A paralogous pair of mammalian host restriction factors form a critical host barrier against poxvirus infection
A paralogous pair of mammalian host restriction factors form a critical host barrier against poxvirus infection Open
Host restriction factors constitute a formidable barrier for viral replication to which many viruses have evolved counter-measures. Human SAMD9, a tumor suppressor and a restriction factor for poxviruses in cell lines, is antagonized by tw…
View article: Acquired expression of CblQ367P in mice induces dysplastic myelopoiesis mimicking chronic myelomonocytic leukemia
Acquired expression of CblQ367P in mice induces dysplastic myelopoiesis mimicking chronic myelomonocytic leukemia Open
Key Points Acquired expression of CblQ367P induces sustained proliferation of myelomonocytes, multilineage dysplasia, and splenomegaly resembling CMML. Combined inhibition of PI3K and JAK2 efficiently suppressed the growth of CblQ367P-indu…
View article: Propagation of trimethylated H3K27 regulated by polycomb protein EED is required for embryogenesis, hematopoietic maintenance, and tumor suppression
Propagation of trimethylated H3K27 regulated by polycomb protein EED is required for embryogenesis, hematopoietic maintenance, and tumor suppression Open
Significance Polycomb repressive complex 2 (PRC2) is a central regulator in all forms of histone H3 Lys27 (H3K27) methylation. Interaction of embryonic ectoderm development (EED) with trimethylated H3K27 (H3K27me3) is required for the allo…
View article: Maintenance of the functional integrity of mouse hematopoiesis by EED and promotion of leukemogenesis by EED haploinsufficiency
Maintenance of the functional integrity of mouse hematopoiesis by EED and promotion of leukemogenesis by EED haploinsufficiency Open
View article: Identification of cooperative genes for <i>E2A‐PBX1</i> to develop acute lymphoblastic leukemia
Identification of cooperative genes for <i>E2A‐PBX1</i> to develop acute lymphoblastic leukemia Open
E2A‐ PBX 1 is a chimeric gene product detected in t(1;19)‐bearing acute lymphoblastic leukemia ( ALL ) with B‐cell lineage. To investigate the leukemogenic process, we generated conditional knock‐in ( cKI ) mice for E2A‐ PBX 1 , in which E…
View article: Involvement of resistin-like molecule β in the development of methionine-choline deficient diet-induced non-alcoholic steatohepatitis in mice
Involvement of resistin-like molecule β in the development of methionine-choline deficient diet-induced non-alcoholic steatohepatitis in mice Open
View article: Fbxl10 overexpression in murine hematopoietic stem cells induces leukemia involving metabolic activation and upregulation of Nsg2
Fbxl10 overexpression in murine hematopoietic stem cells induces leukemia involving metabolic activation and upregulation of Nsg2 Open
Key Points Fbxl10 is a bona fide oncogene in vivo. Fbxl10 overexpression in HSCs induces mitochondrial metabolic activation and enhanced expression of Nsg2.