Associated Papers
A novel TBX19 gene mutation in patients with isolated ACTH deficiency from distinct families with a common geographical origin.
Charnay T et al.
Frontiers in Endocrinology, 2022
Evaluation of growth and puberty in a child with a novel TBX19 gene mutation and review of the literature.
Abali ZY et al.
Hormones (athens, Greece), 2019
60 YEARS OF POMC: Transcriptional and epigenetic regulation of POMC gene expression.
Drouin J
Journal of Molecular Endocrinology, 2016
Phenotypic homogeneity and genotypic variability in a large series of congenital isolated ACTH-deficiency patients with TPIT gene mutations.
Couture C et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
An essential interaction between T-box proteins and histone-modifying enzymes.
Miller SA et al.
Epigenetics, 2009
Coordinated but physically separable interaction with H3K27-demethylase and H3K4-methyltransferase activities are required for T-box protein-mediated activation of developmental gene expression.
Miller SA et al.
Genes & Development, 2008
The TPIT gene mutation M86R associated with isolated adrenocorticotropin deficiency interferes with protein: protein interactions.
Vallette-Kasic S et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
Of old and new diseases: genetics of pituitary ACTH excess (Cushing) and deficiency.
Drouin J et al.
Clinical Genetics, 2007
Molecular mechanisms of pituitary differentiation and regulation: implications for hormone deficiencies and hormone resistance syndromes.
Drouin J
Frontiers of Hormone Research, 2006
Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutations.
Vallette-Kasic S et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency.
Metherell LA et al.
European Journal of Endocrinology, 2004
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