Research Topics
Genomes and Genes | Hiroki YamaguchiSummaryCountry: Japan Publications
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Publications
Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndromeHiroki Yamaguchi
Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, 10 Center Dr, MSC 1652, Bethesda, MD 20892 1652, USA
Blood 102:916-8. 2003..Another 21 patients with short telomeres did not show TERC mutations. Our results suggest that cryptic DKC, at least secondary to mutations in the TERC gene, is an improbable diagnosis in patients with otherwise typical AA, PNH, and MDS...
Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNAPatrick F Fogarty
Hematology Branch, National Heart, Lung, and Blood Institute, 10 Center Drive, MSC 1652, Bethesda, MD 20892-1652, USA
Lancet 362:1628-30. 2003....
Multistep pathogenesis of leukemia via the MLL-AF4 chimeric gene/Flt3 gene tyrosine kinase domain (TKD) mutation-related enhancement of S100A6 expressionHiroki Yamaguchi
Division of Hematology, Department of Internal Medicine, Nippon Medical School, Bunkyo ku, Tokyo, Japan
Exp Hematol 37:701-14. 2009....
Importance of relative dose intensity in chemotherapy for diffuse large B-cell lymphomaHiroki Yamaguchi
Division of Hematology, Department of Internal Medicine, Nippon Medical School, Bunkyo ku, Tokyo Japan
J Clin Exp Hematop 51:1-5. 2011..Previous studies reported that the maintenance of the RDI during CHOP therapy improved the treatment results. In this paper, we review DI and RDI in studies of DLBCL, and revisit the significance of these indicators...
Mutations of telomerase complex genes linked to bone marrow failuresHiroki Yamaguchi
Department of Pathophysiological Management Medical Oncology, Graduate School of Medicine, Nippon Medical School, Tokyo, Japan
J Nippon Med Sch 74:202-9. 2007..Genetic tests are essential in diagnosing this late-presenting DKC and determining the appropriate treatment. This article reviews mutations in the telomerase complex and their connections with DKC and bone marrow failures...
Identification and functional characterization of novel telomerase variant alleles in Japanese patients with bone-marrow failure syndromesJunko Takeuchi
Division of Hematology, Department of Internal Medicine, Nippon Medical School, Bunkyo ku, Tokyo, Japan
Blood Cells Mol Dis 40:185-91. 2008..This study also highlights the rarity of genetic alterations in BMFS patients in Japan, which suggests that other factors may play a more prominent role in the disease pathogenesis in East Asia...
AAV8 vector expressing IL24 efficiently suppresses tumor growth mediated by specific mechanisms in MLL/AF4-positive ALL model miceHayato Tamai
Department of Biochemistry and Molecular Biology, Division of Gene Therapy Research Center for Advanced Medical Technology, Nippon Medical School, Sendagi 1 1 5, Bunkyo ku, Tokyo113 8603, Japan
Blood 119:64-71. 2012..Thus, gene therapy using AAV8-IL24 is a promising treatment for MLL/AF4-positive ALL...
Loss of DCC gene expression is of prognostic importance in acute myelogenous leukemiaKoiti Inokuchi
Division of Hematology, Department of Internal Medicine, Nippon Medical School, 1 1 5 Sendagi, Bunkyo ku, Tokyo 113 8603, Japan
Clin Cancer Res 8:1882-8. 2002..Although this finding is critical to leukemogenesis, its prognostic significance remains uncertain. To evaluate this, loss of DCC gene expression in AML patients and their prognostic significance were investigated...
Importance of maintaining the relative dose intensity of CHOP-like regimens combined with rituximab in patients with diffuse large B-cell lymphomaTsuneaki Hirakawa
Division of Hematology, Department of Internal Medicine, Nippon Medical School, 1 1 5 Sendagi, Bunkyo ku, Tokyo, Japan
Ann Hematol 89:897-904. 2010..004) made RDI maintenance difficult, and prophylactic G-CSF therapy (p = 0.026) was useful for maintaining the RDI. Maintaining the RDI is important even in the era of rituximab-combined chemotherapy for DLBCL...
The study for loss of bcl-xs expression as a prognostic factor in acute myeloid leukemiaHiroki Yamaguchi
Division of Hematology, Department of Internal Medicine, Nippon Medical School, Tokyo, Japan
Leuk Res 26:1119-23. 2002..The future large study will confirm the present data about loss of bcl-xs gene expression as prognostic factor...
RCSD1-ABL1-positive B lymphoblastic leukemia is sensitive to dexamethasone and tyrosine kinase inhibitors and rapidly evolves clonally by chromosomal translocationsKoiti Inokuchi
Division of Hematology, Department of Internal Medicine, Nippon Medical School, 1 1 5 Sendagi, Bunkyo ku, Tokyo 113 8603, Japan
Int J Hematol 94:255-60. 2011..2;q11.2) and t(10;19)(q24;p13.3). The present RCSD1-ABL1-positive ALL may represent a state of high chromosomal instability...
Stem cell transplantation using non-myeloablative conditioning regimen with fludarabine for hematological malignanciesKenji Tajika
Department of Pathophysiological Management Medical Oncology, Graduate School of Medicine, Nippon Medical School, Tokyo, Japan
J Nippon Med Sch 77:254-9. 2010..3%. We concluded that stem cell transplantation using a non-myeloablative conditioning regimen with Flu was a useful therapeutic approach for patients with hematological malignancies...
[Abnormality of telomere maintenance linked to bone marrow failures]Hiroki Yamaguchi
Division of Hematology, Department of Internal Medicine, Nippon Medical School
Nihon Rinsho 66:483-9. 2008....
[Epstein-Barr virus-related B-cell lymphoma of the skin which developed early after cord blood transplantation for angioimmunoblastic T-cell lymphoma]Kenji Tajika
Department of Internal Medicine, Division of Hematology, Nippon Medical School
Rinsho Ketsueki 51:138-42. 2010..For treatment, in addition to decreasing the dose of tacrolimus, we administered rituximab and local irradiation to skin lesions, which led to disappearance of the tumors followed by continued complete remission...
Oral administration of imatinib to P230 BCR/ABL-expressing transgenic mice changes clones with high BCR/ABL complementary DNA expression into those with low expressionMitsuharu Inami
Division of Hematology, Department of Third Internal Medicine, Nippon Medical School, Tokyo, Japan
Int J Hematol 84:346-53. 2006..Pluripotent clones with very low p230 BCR/ABL expression still survive as immature CD34, CD117, CD61, and CD11b populations...
Abnormalities of p51, p53, FLT3 and N-ras genes and their prognostic value in relapsed acute myeloid leukemiaHiroyuki Nakamura
Division of Hematology, Third Department of Internal Medicine, Nippon Medical School, Tokyo, Japan
J Nippon Med Sch 71:270-8. 2004..Loss of the p51 gene expression in de novo AML has not been reported yet...
Analysis of triglyceride value in the diagnosis and treatment response of secondary hemophagocytic syndromeMuneo Okamoto
Division of Hematology, Department of Internal Medicine, Nippon Medical School, Tokyo
Intern Med 48:775-81. 2009..Criteria for HLH diagnosis, which were proposed in 2004, include hypertriglyceridemia. However, some studies reported the absence of hypertriglyceridemia in patients with secondary HLH, differing from those with primary HLH...
Philadelphia chromosome-positive acute myeloid leukemia with tetraploidyHiroki Yamaguchi
Department of Internal Medicine, Nippon Medical School, Tokyo, Japan
Int J Hematol 75:63-6. 2002..Ph-positive acute myeloid leukemia (Ph-AML) has rarely been reported. Herein, we report a case of Ph-AML with tetraploidy and review the previously reported Ph-AML cases...
Umbilical-cord blood cell transplantation conditioned with a reduced intensity-regimen is a practical salvage therapy for severe aplastic anemia refractory to immunosuppressive therapy with antithymocyte globulin/ciclosporinKenji Tajika
Department of Pathophysiological Management Medical Oncology, Graduate School of Medicine, Nippon Medical School, Tokyo, Japan
J Nippon Med Sch 74:424-9. 2007....
Renal thrombotic microangiopathy associated with chronic graft-versus-host disease after allogeneic hematopoietic stem cell transplantationAkiko Mii
Department of Analytic Human Pathology, Nippon Medical School, Tokyo, Japan
Pathol Int 61:518-27. 2011..In conclusion, the kidney is a potential target of chronic GVHD that may induce the development of HSCT-associated TMA. Importantly, some cases are associated with chronic humoral GVHD...
Mutation of bcl-x gene in non-Hodgkin's lymphomaHiroki Yamaguchi
Division of Hematology, Department of Internal Medicine, Nippon Medical School, Tokyo, Japan
Am J Hematol 69:74-6. 2002..Mutation of the bcl-x gene in NHL has not been reported previously. There is a possibility that mutation of the bcl-x gene play a role in the tumorigenesis of NHL...
Autologous stem cell transplantation with PCR-negative graft would be associated with a favorable outcome in core-binding factor acute myeloid leukemiaHideki Nakasone
Division of Hematology, Kanto Medical Center NTT EC, Department of Internal Medicine, Nippon Medical School, Tokyo, Japan
Biol Blood Marrow Transplant 14:1262-9. 2008..ASCT with a PCR-negative graft was associated with excellent EFS. For patients with CBF-AML, especially with adverse factors or remnant MRD in the bone marrow, this strategy is the treatment of choice...
[Bone marrow failure due to telomerase complex gene mutations]Hiroki Yamaguchi
Rinsho Ketsueki 47:1431-7. 2006
Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemiaHiroki Yamaguchi
Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892 1202, USA
N Engl J Med 352:1413-24. 2005..We investigated whether mutations in genes for other components of telomerase also occur in aplastic anemia...
Genetic and transcriptional analysis of spindle checkpoint genes in bone marrow failure patientsHiroki Yamaguchi
Hematology Branch, National Heart, Lung and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA
Blood Cells Mol Dis 30:307-11. 2003..We conclude that mutations in mitotic spindle checkpoint genes do not account for aneuploidy in marrow failure states. However, we cannot exclude epigenetic inactivation of hBUB1 as a potential mechanism in some patients...
