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Article
Open AccessMechanism of KIT gene regulation by GATA1 lacking the N-terminal domain in Down syndrome–related myeloid disorders
Children with Down syndrome (DS) are at high risk of transient abnormal myelopoiesis (TAM) and myeloid leukemia of DS (ML-DS). GATA1 mutations are detected in almost all TAM and ML-DS samples, with exclusive expr...
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Article
Correction to: Post-induction MRD by FCM and GATA1-PCR are significant prognostic factors for myeloid leukemia of Down syndrome
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Article
Post-induction MRD by FCM and GATA1-PCR are significant prognostic factors for myeloid leukemia of Down syndrome
Myeloid leukemia of Down syndrome (ML-DS) is associated with good response to chemotherapy, resulting in favorable outcomes. However, no universal prognostic factors have been identified to date. To clarify a ...
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Article
Open AccessPredictive factors for the development of leukemia in patients with transient abnormal myelopoiesis and Down syndrome
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Article
Correction: Reduced-intensity conditioning is effective for hematopoietic stem cell transplantation in young pediatric patients with Diamond-Blackfan anemia
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
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Article
Reduced-intensity conditioning is effective for hematopoietic stem cell transplantation in young pediatric patients with Diamond–Blackfan anemia
Allogeneic hematopoietic stem cell transplantation (HSCT) is the only curative therapy for the hematologic manifestations of Diamond–Blackfan anemia (DBA). However, data regarding the optimal conditioning regi...
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Article
Outcome of colorectal cancer in Diamond–Blackfan syndrome with a ribosomal protein S19 mutation
Diamond–Blackfan anemia is an autosomal dominant syndrome, characterized by anemia and a predisposition for malignancies. Ribosomal proteins are responsible for this syndrome, and the incidence of colorectal c...
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Article
Correction to: Atypical erythroblastosis in a patient with Diamond–Blackfan anemia who developed del(20q) myelodysplasia
The corresponding author should be ‘‘Masataka Ishimura’’, and not ‘‘Motoshi Sonoda’’ as given in the original publication of the article.
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Article
Atypical erythroblastosis in a patient with Diamond–Blackfan anemia who developed del(20q) myelodysplasia
Diamond–Blackfan anemia (DBA) is a congenital red cell aplasia arising from ribosomal protein (RP) defects. Affected patients present with neonatal anemia, occasional dysmorphism, and cancer predisposition. An...
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Article
Purification of leukemic blast cells from blood smears using laser microdissection
In treatment of acute myeloid leukemia (AML), prognostic factors, including gene mutation and abnormal gene expression, enable risk stratification of patients. However, in the case of a small proportion of leu...
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Article
Diagnostic challenge of Diamond–Blackfan anemia in mothers and children by whole-exome sequencing
Diamond–Blackfan anemia (DBA) is a pure red cell aplasia that arises from defective ribosomal proteins (RPs). Patients with this rare ribosomopathy present with neonatal anemia and occasional dysmorphism. Clin...
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Article
ALDH2 polymorphism in patients with Diamond-Blackfan anemia in Japan
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Article
Acute megakaryoblastic leukemia with acquired trisomy 21 and GATA1 mutations in phenotypically normal children
GATA1 mutations are found almost exclusively in children with myeloid proliferations related to Down syndrome (DS). Here, we report two phenotypically and cytogenetically normal children with acu...
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Article
Open AccessDown syndrome-associated haematopoiesis abnormalities created by chromosome transfer and genome editing technologies
Infants with Down syndrome (DS) are at a high risk of develo** transient abnormal myelopoiesis (TAM). A GATA1 mutation leading to the production of N-terminally truncated GATA1 (GATA1s) in early megakaryocyte/e...
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Article
Correction: Corrigendum: The landscape of somatic mutations in Down syndrome–related myeloid disorders
Nat. Genet. 45, 1293–1299 (2013); doi:10.1038/ng.2759; published online 22 September 2013; corrected after print 30 October 2013 In the version of this article initially published, the discussion of cited refe...
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Article
The landscape of somatic mutations in Down syndrome–related myeloid disorders
Seishi Ogawa and colleagues report the landscape of somatic mutations in Down syndrome–related myeloid disorders. They identify recurrent mutations in multiple cohesin components, CTCF and epigenetic regulators i...
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Article
Selective KIT inhibitor KI-328 and HSP90 inhibitor show different potency against the type of KIT mutations recurrently identified in acute myeloid leukemia
Activating mutations of KIT play an important role in the pathophysiology of several human malignancies, including acute myeloid leukemia. Activated KIT kinase is therefore a promising molecular target for the...
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Article
Molecular pathogenesis in Diamond–Blackfan anemia
Diamond–Blackfan anemia (DBA) is a congenital anemia and a broad spectrum of developmental abnormalities that presents soon after birth. The anemia is due to a failure of erythropoiesis with normal platelet an...
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Article
Three novel mutations of the fibrillin-1 gene and ten single nucleotide polymorphisms of the fibrillin-3 gene in Marfan syndrome patients
Marfan syndrome (MFS) is an autosomal dominant disorder of the extracellular matrix. Allelic variations in the gene for fibrillin-1 (FBN1) have been shown to cause MFS. To date, over 550 mutations have been ident...
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Article
Cloning and expression of human B cell-specific transcription factor BACH2 mapped to chromosome 6q15
The transcription factor Bach2, a member of the BTB-basic region leucine zipper (bZip) factor family, binds to a 12-O-tetradecanoylphorbol-13-acetate (TPA)-responsive element and the related Maf-recognition el...
