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Studies of mice deleted for Sox3 and uc482: relevance to X-linked hypoparathyroidism.
Gaynor KU, Grigorieva IV, Mirczuk SM, Piret S, Kooblall KG, Stevenson M, Rizzoti K, Bowl MR, Nesbit MA, Christie PT, Fraser WD, Hough T, Whyte MP, Lovell-Badge R, Thakker R. Gaynor KU, et al. Among authors: rizzoti k. Endocr Connect. 2020 Jan 1;9(2):173-86. doi: 10.1530/EC-19-0478. Online ahead of print. Endocr Connect. 2020. PMID: 31961795 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: rizzoti k. 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: rizzoti k. 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: rizzoti k. 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.
Identification of SOX3 as an XX male sex reversal gene in mice and humans.
Sutton E, Hughes J, White S, Sekido R, Tan J, Arboleda V, Rogers N, Knower K, Rowley L, Eyre H, Rizzoti K, McAninch D, Goncalves J, Slee J, Turbitt E, Bruno D, Bengtsson H, Harley V, Vilain E, Sinclair A, Lovell-Badge R, Thomas P. Sutton E, et al. Among authors: rizzoti k. J Clin Invest. 2011 Jan;121(1):328-41. doi: 10.1172/JCI42580. Epub 2010 Dec 22. J Clin Invest. 2011. PMID: 21183788 Free PMC article.
43 results