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ACTH signalling and adrenal development: lessons from mouse models.

Novoselova T, King P, Guasti L, Metherell LA, Clark AJL, Chan LF.

Endocr Connect. 2019 Jun 1. pii: EC-19-0190.R1. doi: 10.1530/EC-19-0190. [Epub ahead of print] Review.


MRAP deficiency impairs adrenal progenitor cell differentiation and gland zonation.

Novoselova TV, Hussain M, King PJ, Guasti L, Metherell LA, Charalambous M, Clark AJL, Chan LF.

FASEB J. 2018 Jun 7:fj201701274RR. doi: 10.1096/fj.201701274RR. [Epub ahead of print]


Localisation of the melanocortin-2-receptor and its accessory proteins in the developing and adult adrenal gland.

Gorrigan RJ, Guasti L, King P, Clark AJ, Chan LF.

J Mol Endocrinol. 2011 Jun 9;46(3):227-32. doi: 10.1530/JME-11-0011. Print 2011 Jun.


Adrenocorticotropin resistance syndromes.

Cooray SN, Chan L, Metherell L, Storr H, Clark AJ.

Endocr Dev. 2008;13:99-116. doi: 10.1159/000134828. Review.


Effects of melanocortins on adrenal gland physiology.

Chan LF, Metherell LA, Clark AJ.

Eur J Pharmacol. 2011 Jun 11;660(1):171-80. doi: 10.1016/j.ejphar.2010.11.041. Epub 2011 Jan 3. Review.


Familial glucocorticoid deficiency: advances in the molecular understanding of ACTH action.

Chan LF, Clark AJ, Metherell LA.

Horm Res. 2008;69(2):75-82. Epub 2007 Dec 5. Review.


Melanocortin receptor accessory proteins in adrenal gland physiology and beyond.

Novoselova TV, Jackson D, Campbell DC, Clark AJ, Chan LF.

J Endocrinol. 2013 Mar 19;217(1):R1-11. doi: 10.1530/JOE-12-0501. Print 2013 Apr. Review.


Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2.

Metherell LA, Chapple JP, Cooray S, David A, Becker C, Rüschendorf F, Naville D, Begeot M, Khoo B, Nürnberg P, Huebner A, Cheetham ME, Clark AJ.

Nat Genet. 2005 Feb;37(2):166-70. Epub 2005 Jan 16.


Isolated glucocorticoid deficiency: Genetic causes and animal models.

Maharaj A, Maudhoo A, Chan LF, Novoselova T, Prasad R, Metherell LA, Guasti L.

J Steroid Biochem Mol Biol. 2019 May;189:73-80. doi: 10.1016/j.jsbmb.2019.02.012. Epub 2019 Feb 25. Review.


Isolated Addison's disease is unlikely to be caused by mutations in MC2R, MRAP or STAR, three genes responsible for familial glucocorticoid deficiency.

Dias RP, Chan LF, Metherell LA, Pearce SH, Clark AJ.

Eur J Endocrinol. 2010 Feb;162(2):357-9. doi: 10.1530/EJE-09-0720. Epub 2009 Nov 10.


Missense mutations in the melanocortin 2 receptor accessory protein that lead to late onset familial glucocorticoid deficiency type 2.

Hughes CR, Chung TT, Habeb AM, Kelestimur F, Clark AJ, Metherell LA.

J Clin Endocrinol Metab. 2010 Jul;95(7):3497-501. doi: 10.1210/jc.2009-2731. Epub 2010 Apr 28.


Melanocortin 2 receptor-associated protein (MRAP) and MRAP2 in human adrenocortical tissues: regulation of expression and association with ACTH responsiveness.

Hofland J, Delhanty PJ, Steenbergen J, Hofland LJ, van Koetsveld PM, van Nederveen FH, de Herder WW, Feelders RA, de Jong FH.

J Clin Endocrinol Metab. 2012 May;97(5):E747-54. doi: 10.1210/jc.2011-2328. Epub 2012 Mar 14.


Familial glucocorticoid deficiency type 2: a case report.

Akın L, Kurtoğlu S, Kendirici M, Akın MA.

J Clin Res Pediatr Endocrinol. 2010;2(3):122-5. doi: 10.4274/jcrpe.v2i3.122. Epub 2010 Aug 6.


Distinct melanocortin 2 receptor accessory protein domains are required for melanocortin 2 receptor interaction and promotion of receptor trafficking.

Webb TR, Chan L, Cooray SN, Cheetham ME, Chapple JP, Clark AJ.

Endocrinology. 2009 Feb;150(2):720-6. doi: 10.1210/en.2008-0941. Epub 2008 Sep 25.


Melanocortin 2 receptor is required for adrenal gland development, steroidogenesis, and neonatal gluconeogenesis.

Chida D, Nakagawa S, Nagai S, Sagara H, Katsumata H, Imaki T, Suzuki H, Mitani F, Ogishima T, Shimizu C, Kotaki H, Kakuta S, Sudo K, Koike T, Kubo M, Iwakura Y.

Proc Natl Acad Sci U S A. 2007 Nov 13;104(46):18205-10. Epub 2007 Nov 7.


Estrogen Suppresses Interaction of Melanocortin 2 Receptor and Its Accessory Protein in the Primate Fetal Adrenal Cortex.

Babischkin JS, Aberdeen GW, Pepe GJ, Albrecht ED.

Endocrinology. 2016 Dec;157(12):4588-4601. Epub 2016 Oct 25.


Neonatal presentation of familial glucocorticoid deficiency with a MRAP mutation: A case report.

Chen C, Zhou R, Fang Y, Jiang L, Liang L, Wang C.

Mol Genet Metab Rep. 2016 Sep 10;9:15-7. doi: 10.1016/j.ymgmr.2016.09.003. eCollection 2016 Dec.


Heterogeneity in the molecular basis of ACTH resistance syndrome.

Collares CV, Antunes-Rodrigues J, Moreira AC, Franca SN, Pereira LA, Soares MM, Elias Junior J, Clark AJ, de Castro M, Elias LL.

Eur J Endocrinol. 2008 Jul;159(1):61-8. doi: 10.1530/EJE-08-0079. Epub 2008 Apr 21.


The melanocortin 2 receptor accessory protein exists as a homodimer and is essential for the function of the melanocortin 2 receptor in the mouse y1 cell line.

Cooray SN, Almiro Do Vale I, Leung KY, Webb TR, Chapple JP, Egertová M, Cheetham ME, Elphick MR, Clark AJ.

Endocrinology. 2008 Apr;149(4):1935-41. Epub 2007 Dec 27.


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