Two common naturally occurring mutations in the human gonadotropin-releasing hormone (GnRH) receptor have differential effects on gonadotropin gene expression and on GnRH-mediated signal transduction.

@article{Bdcarrats2003TwoCN,
  title={Two common naturally occurring mutations in the human gonadotropin-releasing hormone (GnRH) receptor have differential effects on gonadotropin gene expression and on GnRH-mediated signal transduction.},
  author={Gr{\'e}goy Y. B{\'e}d{\'e}carrats and Katja D. Linher and Ursula Brigitte Kaiser},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2003},
  volume={88 2},
  pages={
          834-43
        }
}
Studies of naturally occurring human GnRH receptor (GnRHR) mutants may provide a useful approach to dissecting the signal transduction pathways involved in mediating the effects of GnRH. We have analyzed two common mutations in the GnRHR, corresponding to amino acid substitutions Gln106Arg and Arg262Gln, for their effects on the stimulation of gonadotropin subunit and GnRHR gene expression by GnRH. Despite similar impairment of GnRH-stimulated inositol phosphate production, dose-response… CONTINUE READING
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