TRH Action Is Impaired in Pituitaries of Male IGSF1-Deficient Mice.

@article{Turgeon2017TRHAI,
  title={TRH Action Is Impaired in Pituitaries of Male IGSF1-Deficient Mice.},
  author={Marc-Olivier Turgeon and Tanya L R Silander and Denica Doycheva and Xiao-Hui Liao and M. R. Rigden and Luisina Ongaro and Xiang Zhou and Sjoerd D. Joustra and Jan Maarten Wit and Mike Wade and Heike Heuer and Samuel Refetoff and Daniel J Bernard},
  journal={Endocrinology},
  year={2017},
  volume={158 4},
  pages={815-830}
}
Loss-of-function mutations in the X-linked immunoglobulin superfamily, member 1 (IGSF1) gene cause central hypothyroidism. IGSF1 is a transmembrane glycoprotein of unknown function expressed in thyrotropin (TSH)-producing thyrotrope cells of the anterior pituitary gland. The protein is cotranslationally cleaved, with only its C-terminal domain (CTD) being trafficked to the plasma membrane. Most intragenic IGSF1 mutations in humans map to the CTD. In this study, we used CRISPR-Cas9 to introduce… CONTINUE READING
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