Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans.

@article{Kelberman2006MutationsWS,
  title={Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans.},
  author={Daniel Kelberman and Karine Rizzoti and Ariel A. Avilion and Maria Bitner-Glindzicz and Stefano Cianfarani and J. Collins and Wui Khean Kling Chong and Jeremy M. W. Kirk and John C Achermann and Richard Ross and Danielle F Carmignac and Robin Lovell-Badge and Iain C. A. F. Robinson and Mehul T Dattani},
  journal={The Journal of clinical investigation},
  year={2006},
  volume={116 9},
  pages={2442-55}
}
The transcription factor SOX2 is expressed most notably in the developing CNS and placodes, where it plays critical roles in embryogenesis. Heterozygous de novo mutations in SOX2 have previously been associated with bilateral anophthalmia/microphthalmia, developmental delay, short stature, and male genital tract abnormalities. Here we investigated the role of Sox2 in murine pituitary development. Mice heterozygous for a targeted disruption of Sox2 did not manifest eye defects, but showed… CONTINUE READING

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