Molecular defects of the androgen receptor

@article{McPhaul1999MolecularDO,
  title={Molecular defects of the androgen receptor},
  author={M. J. McPhaul},
  journal={The Journal of Steroid Biochemistry and Molecular Biology},
  year={1999},
  volume={69},
  pages={315-322}
}
  • M. J. McPhaul
  • Published 1999
  • Biology, Medicine
  • The Journal of Steroid Biochemistry and Molecular Biology
    • Defects of the androgen receptor cause a wide spectrum of abnormalities of phenotypic male development, ranging from individuals with mild defects of virilization to those with complete female phenotypes. In parallel with this phenotypic spectrum, a large number of different mutations have been identified that alter the synthesis or functional activity of the receptor protein. In many instances, the genetic mutations identified lead to an absence of the intact, full-length receptor protein… CONTINUE READING
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    References

    SHOWING 1-10 OF 42 REFERENCES
    Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene.
    • 130
    • PDF
    Amino acid substitutions in the hormone-binding domain of the human androgen receptor alter the stability of the hormone receptor complex.
    • 58
    • PDF
    Amino acid substitutions in the DNA-binding domain of the human androgen receptor are a frequent cause of receptor-binding positive androgen resistance.
    • 98
    • PDF
    Assessment of androgen receptor function in genital skin fibroblasts using a recombinant adenovirus to deliver an androgen-responsive reporter gene.
    • 27
    • PDF
    Androgen insensitivity syndrome due to new mutations in the DNA-binding domain of the androgen receptor
    • 18
    Mutations in the androgen receptor gene are associated with progression of human prostate cancer to androgen independence.
    • 412
    • PDF
    Molecular modeling and in vitro investigations of the human androgen receptor DNA-binding domain: application for the study of two mutations
    • 31
    Definition of the human androgen receptor gene structure permits the identification of mutations that cause androgen resistance: premature termination of the receptor protein at amino acid residue 588 causes complete androgen resistance.
    • 148
    • PDF
    Substitution of arginine-839 by cysteine or histidine in the androgen receptor causes different receptor phenotypes in cultured cells and coordinate degrees of clinical androgen resistance.
    • 43
    • PDF
    Replacement of arginine 773 by cysteine or histidine in the human androgen receptor causes complete androgen insensitivity with different receptor phenotypes.
    • 57