Asuka Hira

Kyoto, Japan

Last Updated: 09/26/2026

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Found 13 publications

Fanconi anemia and Aldehyde Degradation Deficiency Syndrome: Metabolism and DNA repair protect the genome and hematopoiesis from endogenous DNA damage.

Fanconi anemia and Aldehyde Degradation Deficiency Syndrome: Metabolism and DNA repair protect the genome and hematopoiesis from endogenous DNA damage.

Journal: DNA repair

Published: May 12, 2023

Aldehyde degradation deficiency (ADD) syndrome: discovery of a novel fanconi anemia-like inherited BMF syndrome due to combined ADH5/ALDH2 deficiency

Aldehyde degradation deficiency (ADD) syndrome: discovery of a novel fanconi anemia-like inherited BMF syndrome due to combined ADH5/ALDH2 deficiency

Journal: [Rinsho ketsueki] The Japanese journal of clinical hematology

Published: July 05, 2021

Analysis of disease model iPSCs derived from patients with a novel Fanconi anemia-like IBMFS ADH5/ALDH2 deficiency.

Analysis of disease model iPSCs derived from patients with a novel Fanconi anemia-like IBMFS ADH5/ALDH2 deficiency.

Journal: Blood

Published: September 14, 2020

Two Aldehyde Clearance Systems Are Essential to Prevent Lethal Formaldehyde Accumulation in Mice and Humans.

Two Aldehyde Clearance Systems Are Essential to Prevent Lethal Formaldehyde Accumulation in Mice and Humans.

Journal: Molecular cell

Published: June 15, 2020

Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients.

Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients.

Journal: Haematologica

Published: April 03, 2020

Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients.

Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients.

Journal: Haematologica

Published: September 20, 2018

Associations of complementation group, ALDH2 genotype, and clonal abnormalities with hematological outcome in Japanese patients with Fanconi anemia.

Associations of complementation group, ALDH2 genotype, and clonal abnormalities with hematological outcome in Japanese patients with Fanconi anemia.

Journal: Annals of hematology

Published: February 28, 2018

Common Variable Immunodeficiency Caused by FANC Mutations.

Common Variable Immunodeficiency Caused by FANC Mutations.

Journal: Journal of clinical immunology

Published: April 21, 2016

The phenotype and clinical course of Japanese Fanconi Anaemia infants is influenced by patient, but not maternal ALDH2 genotype.

The phenotype and clinical course of Japanese Fanconi Anaemia infants is influenced by patient, but not maternal ALDH2 genotype.

Journal: British journal of haematology

Published: March 27, 2016

Pluripotent cell models of fanconi anemia identify the early pathological defect in human hemoangiogenic progenitors.

Pluripotent cell models of fanconi anemia identify the early pathological defect in human hemoangiogenic progenitors.

Journal: Stem cells translational medicine

Published: March 13, 2015

Mutations in the gene encoding the E2 conjugating enzyme UBE2T cause Fanconi anemia.

Mutations in the gene encoding the E2 conjugating enzyme UBE2T cause Fanconi anemia.

Journal: American journal of human genetics

Published: February 11, 2015

Fanconi anemia and the molecular mechanism of the repair of DNA crosslinks

Fanconi anemia and the molecular mechanism of the repair of DNA crosslinks

Journal: [Rinsho ketsueki] The Japanese journal of clinical hematology

Published: September 26, 2013

Showing 1-12 of 13

Last Updated: 09/26/2026