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Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism.
Woods KS, Cundall M, Turton J, Rizotti K, Mehta A, Palmer R, Wong J, Chong WK, Al-Zyoud M, El-Ali M, Otonkoski T, Martinez-Barbera JP, Thomas PQ, Robinson IC, Lovell-Badge R, Woodward KJ, Dattani MT. Woods KS, et al. Among authors: robinson ic. Am J Hum Genet. 2005 May;76(5):833-49. doi: 10.1086/430134. Epub 2005 Mar 30. Am J Hum Genet. 2005. PMID: 15800844 Free PMC article.
Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans.
Kelberman D, Rizzoti K, Avilion A, Bitner-Glindzicz M, Cianfarani S, Collins J, Chong WK, Kirk JM, Achermann JC, Ross R, Carmignac D, Lovell-Badge R, Robinson IC, Dattani MT. Kelberman D, et al. Among authors: robinson ic. J Clin Invest. 2006 Sep;116(9):2442-55. doi: 10.1172/JCI28658. Epub 2006 Aug 24. J Clin Invest. 2006. PMID: 16932809 Free PMC article.
SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development.
Kelberman D, de Castro SC, Huang S, Crolla JA, Palmer R, Gregory JW, Taylor D, Cavallo L, Faienza MF, Fischetto R, Achermann JC, Martinez-Barbera JP, Rizzoti K, Lovell-Badge R, Robinson IC, Gerrelli D, Dattani MT. Kelberman D, et al. Among authors: robinson ic. J Clin Endocrinol Metab. 2008 May;93(5):1865-73. doi: 10.1210/jc.2007-2337. Epub 2008 Feb 19. J Clin Endocrinol Metab. 2008. PMID: 18285410 Free PMC article.
Genetic regulation of pituitary gland development in human and mouse.
Kelberman D, Rizzoti K, Lovell-Badge R, Robinson IC, Dattani MT. Kelberman D, et al. Among authors: robinson ic. Endocr Rev. 2009 Dec;30(7):790-829. doi: 10.1210/er.2009-0008. Epub 2009 Oct 16. Endocr Rev. 2009. PMID: 19837867 Free PMC article. Review.
203 results