Etsuro Ito
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View article: Age-specific mutation profiles and their prognostic implications in pediatric <i>KMT2A</i>-rearranged acute myeloid leukemia
Age-specific mutation profiles and their prognostic implications in pediatric <i>KMT2A</i>-rearranged acute myeloid leukemia Open
Driver mutations in KMT2A-rearranged (KMT2A-r) have been identified in acute myeloid leukemia (AML); however, age-related differences in their frequency and prognostic factors remain unclear. In this study, we report age-specific mutation …
Cytokine profiling in 128 patients with transient abnormal myelopoiesis: a report from the JPLSG TAM-10 trial Open
Transient abnormal myelopoiesis (TAM) occurs in 10% of neonates with Down syndrome (DS). Although most patients show spontaneous resolution of TAM, early death occurs in ∼20% of cases. Therefore, new biomarkers are needed to predict early …
Transient erythroblastopenia due to a <i>GATA1</i> variant in an infant female Open
Diamond–Blackfan anemia (DBA) is a congenital anemia with erythroid cell aplasia. Most of the causative genes are ribosomal proteins. GATA1, a hematopoietic master transcription factor required for erythropoiesis, also causes DBA. GATA1 is…
View article: <i>TP53</i> and <i>RB1</i> alterations characterize poor prognostic subgroups in pediatric acute myeloid leukemia
<i>TP53</i> and <i>RB1</i> alterations characterize poor prognostic subgroups in pediatric acute myeloid leukemia Open
Pediatric acute myeloid leukemia (AML) is a poor prognostic subtype of pediatric leukemia. However, the detailed characteristics of many genetic abnormalities are yet to be established in this disease. Although TP53 and RB1 are established…
Data from The Proto-Oncogene ERG in Megakaryoblastic Leukemias Open
Aneuploidy is one of the hallmarks of cancer. Acquired additions of chromosome 21 are a common finding in leukemias, suggesting a contributory role to leukemogenesis. About 10% of patients with a germ line trisomy 21 (Down syndrome) are bo…
Data from The Proto-Oncogene ERG in Megakaryoblastic Leukemias Open
Aneuploidy is one of the hallmarks of cancer. Acquired additions of chromosome 21 are a common finding in leukemias, suggesting a contributory role to leukemogenesis. About 10% of patients with a germ line trisomy 21 (Down syndrome) are bo…
View article: Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis
Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis Open
Hereditary stomatocytosis (HSt) is a type of congenital hemolytic anemia caused by abnormally increased cation permeability of erythrocyte membranes. Dehydrated HSt (DHSt) is the most common subtype of HSt and is diagnosed based on clinica…
Genetic Analysis of Pheochromocytoma and Paraganglioma Complicating Cyanotic Congenital Heart Disease Open
Context Pheochromocytoma and paraganglioma (PPGL) may appear as a complication of cyanotic congenital heart disease (CCHD-PPGL) with frequent EPAS1 mutations, suggesting a close link between EPAS1 mutations and tissue hypoxia in CCHD-PPGL …
Ribosomal protein L5 facilitates rDNA-bundled condensate and nucleolar assembly Open
The nucleolus is the site of ribosome assembly and formed through liquid–liquid phase separation. Multiple ribosomal DNA (rDNA) arrays are bundled in the nucleolus, but the underlying mechanism and significance are unknown. In the present …
View article: <i>BRAF</i> V600E-positive cells as molecular markers of bone marrow disease in pediatric Langerhans cell histiocytosis
<i>BRAF</i> V600E-positive cells as molecular markers of bone marrow disease in pediatric Langerhans cell histiocytosis Open
BRAF V600E-positive cells as molecular markers of bone marrow disease in pediatric Langerhans cell histiocytosis1][12][13][14][15] However, the BRAF mutation status and clinical impact of BM disease (BMD) at the molecular level are not ful…
Genetic analysis of pheochromocytoma and paraganglioma complicating cyanotic congenital heart disease Open
the supplemental data of the submitted paper, " Genetic analysis of pheochromocytoma and paraganglioma complicating cyanotic congenital heart disease"
Childhood acute myeloid leukemia with 5q deletion and <i>HNRNPH1-MLLT10</i> fusion: the first case report Open
2][3][4][5] However, few studies have examined the molecular features beyond cytogenetics of childhood del(5q) AML due to the low prevalence of this disease.Therefore, it is important to better understand their molecular mechanisms leading…
Dyserythropoietic anaemia with an intronic <i>GATA1</i> splicing mutation in patients suspected to have Diamond‐Blackfan anaemia Open
Diamond‐Blackfan anaemia (DBA) shares clinical features with two recently reported sporadic cases of dyserythropoietic anaemia with a cryptic GATA1 splicing mutation (c.871‐24 C>T). We hypothesized that some patients clinically diagnosed w…
Usefulness of functional splicing analysis to confirm precise disease pathogenesis in Diamond-Blackfan anemia caused by intronic variants in <i>RPS19</i> Open
Diamond-Blackfan anemia (DBA) is mainly caused by pathogenic variants in ribosomal proteins and 22 responsible genes have been identified to date. The most common causative gene of DBA is RPS19 [NM_001022.4]. Nearly 180 RPS19 variants have…
View article: An international retrospective study for tolerability of 6-mercaptopurine on NUDT15 bi-allelic variants in children with acute lymphoblastic leukemia
An international retrospective study for tolerability of 6-mercaptopurine on NUDT15 bi-allelic variants in children with acute lymphoblastic leukemia Open
An international retrospective study for tolerability of 6-mercaptopurine on NUDT15 bi-allelic variants in children with
Analysis of disease model iPSCs derived from patients with a novel Fanconi anemia–like IBMFS <i>ADH5/ALDH2</i> deficiency Open
We have recently discovered Japanese children with a novel Fanconi anemia–like inherited bone marrow failure syndrome (IBMFS). This disorder is likely caused by the loss of a catabolic system directed toward endogenous formaldehyde due to …
Enzymatic Changes in Red Blood Cells of Diamond-Blackfan Anemia Open
Diamond-Blackfan anemia is a congenital bone marrow failure syndrome characterized by red blood cell (RBC) aplasia with varied malformations in infants. Elevated activity of adenosine deaminase (ADA) has been considered as a useful biomark…