Fanconi anemia

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  • YAMASHITA Takayuki
    Laboratory of Molecular Genetics, Institute for Molecular and Cellular Regulation, Gunma University

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Other Title
  • Fanconi貧血
  • Fanconi ヒンケツ
  • —deepening of genomic medicine and future prospects—

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Abstract

<p>Fanconi anemia (FA) is a genetic disorder characterized by progressive bone marrow failure, increased susceptibility to leukemia and cancer, and genomic instabilities. Protein products encoded by 22 FA genes, identified till date, cooperate in a molecular pathway called the FA pathway to repair DNA interstrand cross-links induced by chemotherapeutic agents, such as mitomycin C and cisplatin. An accumulating number of studies have shown several new functional aspects of the FA pathway, particularly in the context of the pathogenesis of bone marrow failure. This review focuses on the following topics: (1) aldehydes as intrinsic interstrand cross-linkers; (2) cytokine-induced hematopoietic stress; (3) increased transforming growth factor-β signaling; (4) mitochondrial functions of FA proteins. These findings are expected to offer new therapeutic opportunities for bone marrow failure in FA.</p>

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  • Rinsho Ketsueki

    Rinsho Ketsueki 60 (5), 403-407, 2019

    The Japanese Society of Hematology

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