The human POMC gene promoter: where do we stand?
Milano, Italy. In J Endocrinol Invest, 2011
This increased knowledge benefits the clinician as it allows genetic testing and early recognition of patients with congenital ACTH deficiency due to mutations in TPIT and paves the way to new medical treatments in Cushing's disease.
Adrenal gland development and defects.
Bern, Switzerland. In Best Pract Res Clin Endocrinol Metab, 2008
Adrenal differentiation seems to depend on adrenocorticotropic hormone (ACTH) stimulation and signalling, including biosynthesis and action of POMC, PC1, TPIT, MC2R, MRAP and ALADIN, all of which cause adrenocortical hypoplasia when mutated in humans.
Disorders of adrenal development.
London, United Kingdom. In Endocr Dev, 2007
HESX1, LHX4, SOX3, TPIT, pituitary POMC, PC1); (2) as part of several ACTH resistance syndromes (e.g.