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. 
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    References

    SHOWING 1-10 OF 37 REFERENCES
    Male infertility and androgen receptor gene mutations: clinical features and identification of seven novel mutations
    • 84
    Significance of mutations in the androgen receptor gene in males with idiopathic infertility.
    • 144
    • PDF
    Azoospermia associated with a mutation in the ligand-binding domain of an androgen receptor displaying normal ligand binding, but defective trans-activation.
    • 54
    • PDF
    Postnatal changes of T, LH, and FSH in 46,XY infants with mutations in the AR gene.
    • 131
    • PDF
    Oligospermic infertility associated with an androgen receptor mutation that disrupts interdomain and coactivator (TIF2) interactions.
    • 92
    • PDF
    A novel mutation (N233K) in the transactivating domain and the N756S mutation in the ligand binding domain of the androgen receptor gene are associated with male infertility*
    • 27
    Androgen receptor gene mutations in androgen insensitivity syndrome cause distinct patterns of reduced activation of androgen-responsive promoter constructs
    • 13
    Discordant measures of androgen-binding kinetics in two mutant androgen receptors causing mild or partial androgen insensitivity, respectively.
    • 25
    • PDF
    Analysis of the transactivation domain of the androgen receptor in patients with male infertilitv
    • 40
    A novel sequence variation in the transactivation regulating domain of the androgen receptor in two infertile Finnish men.
    • 25