Go to JCI Insight
  • About
  • Editors
  • Consulting Editors
  • For authors
  • Publication ethics
  • Alerts
  • Advertising
  • Job board
  • Subscribe
  • Contact
  • Current issue
  • Past issues
  • By specialty
    • COVID-19
    • Cardiology
    • Gastroenterology
    • Immunology
    • Metabolism
    • Nephrology
    • Neuroscience
    • Oncology
    • Pulmonology
    • Vascular biology
    • All ...
  • Videos
    • Conversations with Giants in Medicine
    • Author's Takes
  • Reviews
    • View all reviews ...
    • Lung inflammatory injury and tissue repair (Jul 2023)
    • Immune Environment in Glioblastoma (Feb 2023)
    • Korsmeyer Award 25th Anniversary Collection (Jan 2023)
    • Aging (Jul 2022)
    • Next-Generation Sequencing in Medicine (Jun 2022)
    • New Therapeutic Targets in Cardiovascular Diseases (Mar 2022)
    • Immunometabolism (Jan 2022)
    • View all review series ...
  • Viewpoint
  • Collections
    • In-Press Preview
    • Commentaries
    • Research letters
    • Letters to the editor
    • Editorials
    • Viewpoint
    • Top read articles
  • Clinical Medicine
  • JCI This Month
    • Current issue
    • Past issues

  • Current issue
  • Past issues
  • Specialties
  • Reviews
  • Review series
  • Conversations with Giants in Medicine
  • Author's Takes
  • In-Press Preview
  • Commentaries
  • Research letters
  • Letters to the editor
  • Editorials
  • Viewpoint
  • Top read articles
  • About
  • Editors
  • Consulting Editors
  • For authors
  • Publication ethics
  • Alerts
  • Advertising
  • Job board
  • Subscribe
  • Contact
Molecular pathogenesis and clinical management of Fanconi anemia
Younghoon Kee, Alan D. D’Andrea
Younghoon Kee, Alan D. D’Andrea
Published November 1, 2012
Citation Information: J Clin Invest. 2012;122(11):3799-3806. https://doi.org/10.1172/JCI58321.
View: Text | PDF
Science in Medicine

Molecular pathogenesis and clinical management of Fanconi anemia

  • Text
  • PDF
Abstract

Fanconi anemia (FA) is a rare genetic disorder associated with a high frequency of hematological abnormalities and congenital anomalies. Based on multilateral efforts from basic scientists and clinicians, significant advances in our knowledge of FA have been made in recent years. Here we review the clinical features, the diagnostic criteria, and the current and future therapies of FA and describe the current understanding of the molecular basis of the disease.

Authors

Younghoon Kee, Alan D. D’Andrea

×

Figure 1

Pathophysiology of FA.

Options: View larger image (or click on image) Download as PowerPoint
Pathophysiology of FA.
FA cells are highly vulnerable to endogenous insu...
FA cells are highly vulnerable to endogenous insults, such as ROS, other sources of DNA crosslinkers (e.g., formaldehyde), and exogenous DNA-damaging agents. Repeated exposure to these insults in FA cells during developmental stages can lead to high incidence of congenital abnormalities, bone marrow failure, and cancers.

Copyright © 2023 American Society for Clinical Investigation
ISSN: 0021-9738 (print), 1558-8238 (online)

Sign up for email alerts