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Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency.
Pulichino AM, Vallette-Kasic S, Couture C, Gauthier Y, Brue T, David M, Malpuech G, Deal C, Van Vliet G, De Vroede M, Riepe FG, Partsch CJ, Sippell WG, Berberoglu M, Atasay B, Drouin J. Pulichino AM, et al. Genes Dev. 2003 Mar 15;17(6):711-6. doi: 10.1101/gad.1065603. Genes Dev. 2003. PMID: 12651888 Free PMC article.
Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutations.
Vallette-Kasic S, Brue T, Pulichino AM, Gueydan M, Barlier A, David M, Nicolino M, Malpuech G, Déchelotte P, Deal C, Van Vliet G, De Vroede M, Riepe FG, Partsch CJ, Sippell WG, Berberoglu M, Atasay B, de Zegher F, Beckers D, Kyllo J, Donohoue P, Fassnacht M, Hahner S, Allolio B, Noordam C, Dunkel L, Hero M, Pigeon B, Weill J, Yigit S, Brauner R, Heinrich JJ, Cummings E, Riddell C, Enjalbert A, Drouin J. Vallette-Kasic S, et al. Among authors: pulichino am. J Clin Endocrinol Metab. 2005 Mar;90(3):1323-31. doi: 10.1210/jc.2004-1300. Epub 2004 Dec 21. J Clin Endocrinol Metab. 2005. PMID: 15613420
A neonatal form of isolated ACTH deficiency frequently associated with Tpit gene mutations.
Vallette-Kasic S, Pulichino AM, Gueydan M, Barlier A, David M, Malpuech G, Deal C, Van Vliet G, de Vroede M, Riepe F, Partsch CJ, Sippell W, Berberoglu M, Atasay B, de Zegher F, Kyllo J, Donohoue P, Dechelotte P, Fassnacht M, Noordam K, Dunkel L, Pigeon B, Weill J, Yigit S, Brauner R, Leger J, Heinrich JJ, Enjalbert A, Brue T, Drouin J. Vallette-Kasic S, et al. Among authors: pulichino am. Endocr Res. 2004 Nov;30(4):943-4. doi: 10.1081/erc-200044166. Endocr Res. 2004. PMID: 15666849 No abstract available.
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