These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

166 related articles for article (PubMed ID: 20427498)

  • 1. 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. PubMed ID: 20427498
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2.
    Chung TT; Chan LF; Metherell LA; Clark AJ
    Clin Endocrinol (Oxf); 2010 May; 72(5):589-94. PubMed ID: 19558534
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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. PubMed ID: 19903795
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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
    J Clin Endocrinol Metab; 2008 Dec; 93(12):4948-54. PubMed ID: 18840636
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 46(3):227-32. PubMed ID: 21367968
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Familial glucocorticoid deficiency: advances in the molecular understanding of ACTH action.
    Chan LF; Clark AJ; Metherell LA
    Horm Res; 2008; 69(2):75-82. PubMed ID: 18059087
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A rare and preventable aetiology of neurodevelopmental delay and epilepsy: familial glucocorticoid deficiency.
    Özbek MN; Demiral M; Unal E; Karaşin ND; Baran RT; Demirbilek H
    J Pediatr Endocrinol Metab; 2021 Nov; 34(11):1463-1468. PubMed ID: 34271604
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory protein.
    Jain V; Metherell LA; David A; Sharma R; Sharma PK; Clark AJ; Chan LF
    Eur J Endocrinol; 2011 Dec; 165(6):987-91. PubMed ID: 21951701
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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
    Clin Endocrinol (Oxf); 2009 Aug; 71(2):171-5. PubMed ID: 19170705
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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. PubMed ID: 20962024
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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. PubMed ID: 21823545
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Adrenocorticotropin resistance syndromes.
    Cooray SN; Chan L; Metherell L; Storr H; Clark AJL
    Endocr Dev; 2008; 13():99-116. PubMed ID: 18493136
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Unusual presentation of familial glucocorticoid deficiency with a novel MRAP mutation.
    Modan-Moses D; Ben-Zeev B; Hoffmann C; Falik-Zaccai TC; Bental YA; Pinhas-Hamiel O; Anikster Y
    J Clin Endocrinol Metab; 2006 Oct; 91(10):3713-7. PubMed ID: 16868047
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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. PubMed ID: 22337906
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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. PubMed ID: 21274326
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Clinical and biological phenotype of a patient with familial glucocorticoid deficiency type 2 caused by a mutation of melanocortin 2 receptor accessory protein.
    Rumié H; Metherell LA; Clark AJ; Beauloye V; Maes M
    Eur J Endocrinol; 2007 Oct; 157(4):539-42. PubMed ID: 17893271
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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. PubMed ID: 15654338
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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. PubMed ID: 18426811
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A Novel Mutation in Melanocortin Receptor 2 and a Reported Mutation in Melanocortin Receptor 2 Accessory Protein: Three Chinese Cases with Familial Glucocorticoid Deficiency.
    Duan Y; Xia Y; Gong Z; Liu H; Liang L; Zhang K; Yang Y; Wang R; Xiao B; Qiu W
    Mol Syndromol; 2023 Feb; 14(1):71-79. PubMed ID: 36777708
    [TBL] [Abstract][Full Text] [Related]  

  • 20. ACTH signalling and adrenal development: lessons from mouse models.
    Novoselova TV; King PJ; Guasti L; Metherell LA; Clark AJL; Chan LF
    Endocr Connect; 2019 Jul; 8(7):R122-R130. PubMed ID: 31189126
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.