Article
Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency.
Genes & development - 15 Mar 2003
Pulichino Anne-Marie, Vallette-Kasic Sophie, Couture Catherine, Gauthier Yves, Brue Thierry, David Michel, Malpuech Georges, Deal Cheri, Van Vliet Guy, De Vroede Monique, Riepe Felix G, Partsch Carl-Joachim, Sippell Wolfgang G, Berberoglu Merih, Atasay Begüm, Drouin Jacques
Abstract excerpt
Tpit is a highly cell-restricted transcription factor that is required for expression of the pro-opiomelanocortin (POMC) gene and for terminal differentiation of the pituitary corticotroph lineage. Its exclusive expression in pituitary POMC-expressing cells has suggested that its mutation may cause isolated deficiency of pituitary adrenocorticotropin (ACTH). We now show that Tpit-deficient mice constitute a model...
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