Detailed functional studies on androgen receptor mild mutations demonstrate their association with male infertility

@article{Zuccarello2008DetailedFS,
  title={Detailed functional studies on androgen receptor mild mutations demonstrate their association with male infertility},
  author={D. Zuccarello and A. Ferlin and C. Vinanzi and E. Prana and A. Garolla and L. Callewaert and F. Claessens and A. Brinkmann and C. Foresta},
  journal={Clinical Endocrinology},
  year={2008},
  volume={68}
}
  • D. Zuccarello, A. Ferlin, +6 authors C. Foresta
  • Published 2008
  • Biology, Medicine
  • Clinical Endocrinology
  • Context   Mutations in the androgen receptor (AR) gene can cause the androgen insensitivity syndrome (AIS). For complete and severe partial AIS, well‐characterized in vitro functional assays can be used for genotype–phenotype correlation; however, for mild forms of AIS, as associated with male infertility, experimental evidence is scarce or lacking. In particular, optimal in vitro functional tests informative about the genotype–phenotype relation have not been described. 
    59 Citations
    Androgen insensitivity syndrome
    • N. Mendoza, M. A. Motos
    • Biology, Medicine
    • Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology
    • 2013
    • 42
    • PDF
    A novel mutation in the transactivation-regulating domain of the androgen receptor in a patient with azoospermia.
    • 17
    • Highly Influenced
    Androgen receptor knockout and knock-in mouse models.
    • 73
    • PDF

    References

    SHOWING 1-10 OF 37 REFERENCES
    Significance of mutations in the androgen receptor gene in males with idiopathic infertility.
    • 144
    • PDF
    Postnatal changes of T, LH, and FSH in 46,XY infants with mutations in the AR gene.
    • 131
    • PDF