PMID: 18407210Jul 1, 1994Paper

Molecular insights into inherited ACTH resistance syndromes

Trends in Endocrinology and Metabolism : TEM
A J Clark, A Weber

Abstract

The ACTH resistance syndromes-familial glucocorticoid deficiency (FGD) and the triple-A syndrome-have long been postulated to result from genetic defects of the ACTH receptor. We have demonstrated a point mutation that reduced function of this receptor in FGD, and subsequently we, and others, have identified other mutations of this gene in other families with this condition. Gene linkage studies, however, show that the ACTH receptor is not associated with either a subgroup o f FGD in which mutations in the ACTH receptor gene cannot be found or with the triple-A syndrome. The study of these diseases may reveal new aspects of adrenal development and function, and provide insights into the molecular mechanisms of ACTH receptor action.

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Citations

Jun 10, 2003·Indian Journal of Pediatrics·Sunita Bijarnia, I C Verma
Jul 1, 1995·Baillière's Clinical Endocrinology and Metabolism·K A WoodsA J Clark
Jan 1, 1996·Baillière's Clinical Endocrinology and Metabolism·A J Clark, F M Cammas
Apr 10, 2016·World Journal of Pediatrics : WJP·Ahmet UçarNurçin Saka
Feb 6, 2004·American Journal of Physiology. Regulatory, Integrative and Comparative Physiology·Michael H Humphreys
Dec 23, 1998·Endocrine Reviews·A J Clark, A Weber
Nov 1, 1996·Endocrine Research·D NavilleM Bégeot

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