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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: dattani mt. 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.
Variable phenotypes associated with aromatase (CYP19) insufficiency in humans.
Lin L, Ercan O, Raza J, Burren CP, Creighton SM, Auchus RJ, Dattani MT, Achermann JC. Lin L, et al. Among authors: dattani mt. J Clin Endocrinol Metab. 2007 Mar;92(3):982-90. doi: 10.1210/jc.2006-1181. Epub 2006 Dec 12. J Clin Endocrinol Metab. 2007. PMID: 17164303 Free PMC article.
Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.
Lin L, Philibert P, Ferraz-de-Souza B, Kelberman D, Homfray T, Albanese A, Molini V, Sebire NJ, Einaudi S, Conway GS, Hughes IA, Jameson JL, Sultan C, Dattani MT, Achermann JC. Lin L, et al. Among authors: dattani mt. J Clin Endocrinol Metab. 2007 Mar;92(3):991-9. doi: 10.1210/jc.2006-1672. Epub 2007 Jan 2. J Clin Endocrinol Metab. 2007. PMID: 17200175 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: dattani mt. 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.
Mitochondrial disease and endocrine dysfunction.
Chow J, Rahman J, Achermann JC, Dattani MT, Rahman S. Chow J, et al. Among authors: dattani mt. Nat Rev Endocrinol. 2017 Feb;13(2):92-104. doi: 10.1038/nrendo.2016.151. Epub 2016 Oct 7. Nat Rev Endocrinol. 2017. PMID: 27716753 Review.
246 results