New Insights and Perspectives in Fanconi Anemia Research

Research output: Contribution to journalShort survey

Abstract

Fanconi anemia is a rare, cancer-prone disease with mutations in 22 genes. The primary defect results in altered DNA repair mechanisms that fuel a severe proinflammatory condition in the bone marrow, leading to cellular depletion of the hematopoietic system and eventually to bone marrow failure. During the past three decades, a plethora of dysfunctions have been highlighted in the Fanconi anemia phenotype, but recent research allows us to glimpse an even more complex scenario where defective lipid metabolism could have important consequences in hematopoietic stem cell differentiation.

Original languageEnglish
JournalTrends in Molecular Medicine
DOIs
Publication statusPublished - Jan 1 2019

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Fanconi Anemia
Bone Marrow
Hematopoietic System
Hematopoietic Stem Cells
Lipid Metabolism
Research
DNA Repair
Cell Differentiation
Phenotype
Mutation
Genes
Neoplasms

Keywords

  • cancer-prone disease
  • Fanconi anemia
  • lipid metabolism
  • rare disease

ASJC Scopus subject areas

  • Molecular Medicine
  • Molecular Biology

Cite this

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abstract = "Fanconi anemia is a rare, cancer-prone disease with mutations in 22 genes. The primary defect results in altered DNA repair mechanisms that fuel a severe proinflammatory condition in the bone marrow, leading to cellular depletion of the hematopoietic system and eventually to bone marrow failure. During the past three decades, a plethora of dysfunctions have been highlighted in the Fanconi anemia phenotype, but recent research allows us to glimpse an even more complex scenario where defective lipid metabolism could have important consequences in hematopoietic stem cell differentiation.",
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AB - Fanconi anemia is a rare, cancer-prone disease with mutations in 22 genes. The primary defect results in altered DNA repair mechanisms that fuel a severe proinflammatory condition in the bone marrow, leading to cellular depletion of the hematopoietic system and eventually to bone marrow failure. During the past three decades, a plethora of dysfunctions have been highlighted in the Fanconi anemia phenotype, but recent research allows us to glimpse an even more complex scenario where defective lipid metabolism could have important consequences in hematopoietic stem cell differentiation.

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