Akie Kobayashi

Hirosaki, Japan

Last Updated: 09/26/2026

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Found 18 publications

Concurrent Somatic Mutations of the SETBP1 and KRAS Genes in Pediatric AML: A Case Report.

Concurrent Somatic Mutations of the SETBP1 and KRAS Genes in Pediatric AML: A Case Report.

Journal: Pediatric blood & cancer

Published: January 28, 2026

Functional characterization of Griscelli syndrome type 2 sine albinism in Japanese patients.

Functional characterization of Griscelli syndrome type 2 sine albinism in Japanese patients.

Journal: Journal of human immunity

Published: December 23, 2025

Functional impact of a deep intronic variant in the RPS19 gene detected in a case of Diamond-Blackfan anemia syndrome.

Functional impact of a deep intronic variant in the RPS19 gene detected in a case of Diamond-Blackfan anemia syndrome.

Journal: Haematologica

Published: October 29, 2025

Landscape of driver mutations and their clinical effects on Down syndrome-related myeloid neoplasms.

Landscape of driver mutations and their clinical effects on Down syndrome-related myeloid neoplasms.

Journal: Blood

Published: September 12, 2023

Antileukemic effect of azacitidine, a DNA methyltransferase inhibitor, on cell lines of myeloid leukemia associated with Down syndrome.

Antileukemic effect of azacitidine, a DNA methyltransferase inhibitor, on cell lines of myeloid leukemia associated with Down syndrome.

Journal: Experimental hematology

Published: May 25, 2023

Mechanism of KIT gene regulation by GATA1 lacking the N-terminal domain in Down syndrome-related myeloid disorders.

Mechanism of KIT gene regulation by GATA1 lacking the N-terminal domain in Down syndrome-related myeloid disorders.

Journal: Scientific reports

Published: May 16, 2022

Dyserythropoietic anaemia with an intronic GATA1 splicing mutation in patients suspected to have Diamond-Blackfan anaemia.

Dyserythropoietic anaemia with an intronic GATA1 splicing mutation in patients suspected to have Diamond-Blackfan anaemia.

Journal: EJHaem

Published: November 22, 2021

Childhood acute myeloid leukemia with 5q deletion and HNRNPH1-MLLT10 fusion: the first case report.

Childhood acute myeloid leukemia with 5q deletion and HNRNPH1-MLLT10 fusion: the first case report.

Journal: Blood advances

Published: October 22, 2021

Isolated Bone Recurrence of Medulloblastoma With MYCN Amplification and TP53 Loss: A Case Report.

Isolated Bone Recurrence of Medulloblastoma With MYCN Amplification and TP53 Loss: A Case Report.

Journal: Journal of pediatric hematology/oncology

Published: January 23, 2021

Correction: Reduced-intensity conditioning is effective for hematopoietic stem cell transplantation in young pediatric patients with Diamond-Blackfan anemia.

Correction: Reduced-intensity conditioning is effective for hematopoietic stem cell transplantation in young pediatric patients with Diamond-Blackfan anemia.

Journal: Bone marrow transplantation

Published: October 15, 2020

Association of Multiple Gene Polymorphisms Including Homozygous NUDT15 R139C With Thiopurine Intolerance During the Treatment of Acute Lymphoblastic Leukemia.

Association of Multiple Gene Polymorphisms Including Homozygous NUDT15 R139C With Thiopurine Intolerance During the Treatment of Acute Lymphoblastic Leukemia.

Journal: Journal of pediatric hematology/oncology

Published: August 29, 2020

Reduced-intensity conditioning is effective for hematopoietic stem cell transplantation in young pediatric patients with Diamond-Blackfan anemia.

Reduced-intensity conditioning is effective for hematopoietic stem cell transplantation in young pediatric patients with Diamond-Blackfan anemia.

Journal: Bone marrow transplantation

Published: January 30, 2020

Showing 1-12 of 18

Last Updated: 09/26/2026