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Familial glucocorticoid deficiency: New genes and mechanisms.
Meimaridou E, Hughes CR, Kowalczyk J, Guasti L, Chapple JP, King PJ, Chan LF, Clark AJ, Metherell LA. Meimaridou E, et al. Among authors: chan lf. Mol Cell Endocrinol. 2013 May 22;371(1-2):195-200. doi: 10.1016/j.mce.2012.12.010. Epub 2012 Dec 29. Mol Cell Endocrinol. 2013. PMID: 23279877 Review.
The genetics of ACTH resistance syndromes.
Metherell LA, Chan LF, Clark AJ. Metherell LA, et al. Among authors: chan lf. Best Pract Res Clin Endocrinol Metab. 2006 Dec;20(4):547-60. doi: 10.1016/j.beem.2006.09.002. Best Pract Res Clin Endocrinol Metab. 2006. PMID: 17161331 Review.
Adrenocorticotropin resistance syndromes.
Cooray SN, Chan L, Metherell L, Storr H, Clark AJL. Cooray SN, et al. Endocr Dev. 2008;13:99-116. doi: 10.1159/000134828. Endocr Dev. 2008. PMID: 18493136 Review.
The majority of adrenocorticotropin receptor (melanocortin 2 receptor) mutations found in familial glucocorticoid deficiency type 1 lead to defective trafficking of the receptor to the cell surface.
Chung TT, Webb TR, Chan LF, Cooray SN, Metherell LA, King PJ, Chapple JP, Clark AJ. Chung TT, et al. Among authors: chan lf. J Clin Endocrinol Metab. 2008 Dec;93(12):4948-54. doi: 10.1210/jc.2008-1744. Epub 2008 Oct 7. J Clin Endocrinol Metab. 2008. PMID: 18840636 Free PMC article.
Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiency.
Chan LF, Metherell LA, Krude H, Ball C, O'Riordan SM, Costigan C, Lynch SA, Savage MO, Cavarzere P, Clark AJ. Chan LF, et al. Clin Endocrinol (Oxf). 2009 Aug;71(2):171-5. doi: 10.1111/j.1365-2265.2008.03511.x. Clin Endocrinol (Oxf). 2009. PMID: 19170705 Free PMC article.
126 results