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Androgen Receptor Mutations Associated with Androgen Insensitivity Syndrome: A High Content Analysis Approach Leading to Personalized Medicine

  • Adam T. Szafran
  • Huiying Sun
  • Sean Hartig
  • Yuqing Shen
  • Sanjay N. Mediwala
  • Jennifer Bell
  • Michael J. McPhaul
  • Michael A. Mancini
  • Marco MarcelliEmail author
Conference paper
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 707)

Abstract

Androgen insensitivity syndrome (AIS) is a rare disease associated with inactivating mutations of AR that disrupt male sexual differentiation and cause a spectrum of phenotypic abnormalities having as a common denominator loss of reproductive viability. No established treatment exists for this condition; however, there are sporadic reports of patients (or recapitulated mutations in cell lines) that respond to administration of supraphysiologic doses (or pulses) of testosterone or synthetic ligands. The common denominator of these mutations is that they are located in the ligand-binding domain (LBD) and are associated with qualitative abnormal 3H-DHT binding consisting of increased ligand–receptor dissociation rate.

Keywords

Synthetic Ligand Androgen Insensitivity Syndrome Supraphysiologic Dose Complete Androgen Insensitivity Syndrome Androgen Receptor Mutation 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

  1. 1.
    Szafran, A.T., Szwarc, M., Marcelli, M., and Mancini, M.A. 2008. Androgen receptor functional analyses by high throughput imaging: determination of ligand, cell cycle, and mutation-specific effects. PLoS One 3:e3605.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  • Adam T. Szafran
    • 1
  • Huiying Sun
    • 2
    • 4
  • Sean Hartig
    • 1
  • Yuqing Shen
    • 2
    • 4
  • Sanjay N. Mediwala
    • 2
    • 4
  • Jennifer Bell
    • 3
  • Michael J. McPhaul
    • 5
  • Michael A. Mancini
    • 1
  • Marco Marcelli
    • 1
    • 2
    • 4
    Email author
  1. 1.Department of Molecular and Cellular BiologyBaylor College of MedicineHoustonUSA
  2. 2.Department of MedicineBaylor College of MedicineHoustonUSA
  3. 3.Department of PediatricsBaylor College of MedicineHoustonUSA
  4. 4.Baylor College of Medicine, Michael E. DeBakey VA Medical CenterHoustonUSA
  5. 5.Department of Internal MedicineUniversity of Texas SouthwesternDallasUSA

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