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Article

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

British journal of haematology - 1 Nov 2016

Yabe Miharu, Yabe Hiromasa, Morimoto Tsuyoshi, Fukumura Akiko, Ohtsubo Keisuke, Koike Takashi, Yoshida Kenichi, Ogawa Seishi, Ito Etsuro, Okuno Yusuke, Muramatsu Hideki, Kojima Seiji, Matsuo Keitaro, Hira Asuka, Takata Minoru

Abstract excerpt

Studies using Fanconi anaemia (FA) mutant mouse models suggested that the combination of a defective FA pathway and aldehyde dehydrogenase-2 (ALDH2) dysfunction could provoke bone marrow failure, leukaemia and developmental defects, and that both maternal and fetal aldehyde detoxification are crucial to protect the developing embryo from DNA damage. We studied the ALDH2 genotypes of 35 Japanese FA patients and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27377053
DOI: 10.1111/bjh.14243

Genes

ALDH2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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