Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 121

1.

Bioinactive ACTH causing glucocorticoid deficiency.

Samuels ME, Gallo-Payet N, Pinard S, Hasselmann C, Magne F, Patry L, Chouinard L, Schwartzentruber J, René P, Sawyer N, Bouvier M, Djemli A, Delvin E, Huot C, Eugene D, Deal CL, Van Vliet G, Majewski J, Deladoëy J; FORGE Canada Consortium.

J Clin Endocrinol Metab. 2013 Feb;98(2):736-42. doi: 10.1210/jc.2012-3199. Epub 2013 Jan 4.

PMID:
23293326
2.

Loss of the C terminus of melanocortin receptor 2 (MC2R) results in impaired cell surface expression and ACTH insensitivity.

Hirsch A, Meimaridou E, Fernandez-Cancio M, Pandey AV, Clemente M, Audi L, Clark AJ, Flück CE.

J Clin Endocrinol Metab. 2011 Jan;96(1):E65-72. doi: 10.1210/jc.2010-1056. Epub 2010 Oct 20.

PMID:
20962024
3.

Familial glucocorticoid deficiency type 1 due to a novel compound heterozygous MC2R mutation.

Mazur A, Koehler K, Schuelke M, Skunde M, Ostański M, Huebner A.

Horm Res. 2008;69(6):363-8. doi: 10.1159/000117393. Epub 2008 Mar 17.

PMID:
18504396
4.

An atypical case of familial glucocorticoid deficiency without pigmentation caused by coexistent homozygous mutations in MC2R (T152K) and MC1R (R160W).

Turan S, Hughes C, Atay Z, Guran T, Haliloglu B, Clark AJ, Bereket A, Metherell LA.

J Clin Endocrinol Metab. 2012 May;97(5):E771-4. doi: 10.1210/jc.2011-2414. Epub 2012 Feb 15.

5.

Familial glucocorticoid deficiency due to compound heterozygosity of two novel MC2R mutations.

Aza-Carmona M, Barreda-Bonis AC, Guerrero-Fernández J, González-Casado I, Gracia R, Heath KE.

J Pediatr Endocrinol Metab. 2011;24(5-6):395-7.

PMID:
21823545
6.

A novel mutation in the MC2R gene causing familial glucocorticoid deficiency type 1.

Akin MA, Akin L, Coban D, Ozturk MA, Bircan R, Kurtoglu S.

Neonatology. 2011;100(3):277-81. doi: 10.1159/000323913. Epub 2011 Jun 23.

PMID:
21701219
7.

Novel compound heterozygous mutation of the MC2R gene in a patient with familial glucocorticoid deficiency.

Matsuura H, Shiohara M, Yamano M, Kurata K, Arai F, Koike K.

J Pediatr Endocrinol Metab. 2006 Sep;19(9):1167-70.

PMID:
17128565
8.

Familial glucocorticoid deficiency with a point mutation in the ACTH receptor: a case report.

Kim CJ, Woo YJ, Kim GH, Yoo HW.

J Korean Med Sci. 2009 Oct;24(5):979-81. doi: 10.3346/jkms.2009.24.5.979. Epub 2009 Sep 23.

9.

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.

10.

Adrenocorticotropin receptor gene mutations in familial glucocorticoid deficiency: relationships with clinical features in four families.

Weber A, Toppari J, Harvey RD, Klann RC, Shaw NJ, Ricker AT, Näntö-Salonen K, Bevan JS, Clark AJ.

J Clin Endocrinol Metab. 1995 Jan;80(1):65-71.

PMID:
7829641
11.

Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia.

Lin L, Hindmarsh PC, Metherell LA, Alzyoud M, Al-Ali M, Brain CE, Clark AJ, Dattani MT, Achermann JC.

Clin Endocrinol (Oxf). 2007 Feb;66(2):205-10.

12.

Clinical, genetic, and functional characterization of adrenocorticotropin receptor mutations using a novel receptor assay.

Flück CE, Martens JW, Conte FA, Miller WL.

J Clin Endocrinol Metab. 2002 Sep;87(9):4318-23.

PMID:
12213892
13.

Demonstration by transfection studies that mutations in the adrenocorticotropin receptor gene are one cause of the hereditary syndrome of glucocorticoid deficiency.

Naville D, Barjhoux L, Jaillard C, Faury D, Despert F, Esteva B, Durand P, Saez JM, Begeot M.

J Clin Endocrinol Metab. 1996 Apr;81(4):1442-8.

PMID:
8636348
14.

ACTH, alpha-MSH, and control of cortisol release: cloning, sequencing, and functional expression of the melanocortin-2 and melanocortin-5 receptor in Cyprinus carpio.

Metz JR, Geven EJ, van den Burg EH, Flik G.

Am J Physiol Regul Integr Comp Physiol. 2005 Sep;289(3):R814-26. Epub 2005 May 12.

15.

A novel adrenocorticotropin receptor mutation alters its structure and function, causing familial glucocorticoid deficiency.

Artigas RA, Gonzalez A, Riquelme E, Carvajal CA, Cattani A, Martínez-Aguayo A, Kalergis AM, Pérez-Acle T, Fardella CE.

J Clin Endocrinol Metab. 2008 Aug;93(8):3097-105. doi: 10.1210/jc.2008-0048. Epub 2008 May 20.

PMID:
18492762
16.

Functional relationships between three novel homozygous mutations in the ACTH receptor gene and familial glucocorticoid deficiency.

Penhoat A, Naville D, El Mourabit H, Buronfosse A, Berberoglu M, Ocal G, Tsigos C, Durand P, Bégeot M.

J Mol Med (Berl). 2002 Jul;80(7):406-11. Epub 2002 Apr 11.

PMID:
12110946
17.

Genetic heterogeneity of adrenocorticotropin (ACTH) resistance syndromes: identification of a novel mutation of the ACTH receptor gene in hereditary glucocorticoid deficiency.

Wu SM, Stratakis CA, Chan CH, Hallermeier KM, Bourdony CJ, Rennert OM, Chan WY.

Mol Genet Metab. 1998 Aug;64(4):256-65.

PMID:
9758716
18.
19.

Development of potent selective competitive-antagonists of the melanocortin type 2 receptor.

Bouw E, Huisman M, Neggers SJ, Themmen AP, van der Lely AJ, Delhanty PJ.

Mol Cell Endocrinol. 2014 Aug 25;394(1-2):99-104. doi: 10.1016/j.mce.2014.07.003. Epub 2014 Jul 11.

PMID:
25017734
20.

ACTH and alpha-MSH inhibit leptin expression and secretion in 3T3-L1 adipocytes: model for a central-peripheral melanocortin-leptin pathway.

Norman D, Isidori AM, Frajese V, Caprio M, Chew SL, Grossman AB, Clark AJ, Michael Besser G, Fabbri A.

Mol Cell Endocrinol. 2003 Feb 28;200(1-2):99-109.

PMID:
12644303

Supplemental Content

Support Center