Metherell L - Search Results

1

The TPIT gene mutation M86R associated with isolated adrenocorticotropin deficiency interferes with protein: protein interactions.

Vallette-Kasic S, Couture C, Balsalobre A, Gauthier Y, Metherell L, Dattani M, Drouin J. Vallette-Kasic S, et al. Among authors: metherell l. J Clin Endocrinol Metab. 2007 Oct;92(10):3991-9. doi: 10.1210/jc.2007-0284. Epub 2007 Jul 24. J Clin Endocrinol Metab. 2007. PMID: 17652218

2

Severe cortisol deficiency associated with reversible growth hormone deficiency in two infants: what is the link?

McEachern R, Drouin J, Metherell L, Huot C, Van Vliet G, Deal C. McEachern R, et al. Among authors: metherell l. J Clin Endocrinol Metab. 2011 Sep;96(9):2670-4. doi: 10.1210/jc.2011-0129. Epub 2011 Jul 13. J Clin Endocrinol Metab. 2011. PMID: 21752888

3

TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency.

Metherell LA, Savage MO, Dattani M, Walker J, Clayton PE, Farooqi IS, Clark AJ. Metherell LA, et al. Eur J Endocrinol. 2004 Oct;151(4):463-5. doi: 10.1530/eje.0.1510463. Eur J Endocrinol. 2004. PMID: 15476446

4

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. Lin L, et al. Among authors: metherell la. Clin Endocrinol (Oxf). 2007 Feb;66(2):205-10. doi: 10.1111/j.1365-2265.2006.02709.x. Clin Endocrinol (Oxf). 2007. PMID: 17223989 Free PMC article.

5

Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation.

Klammt J, Neumann D, Gevers EF, Andrew SF, Schwartz ID, Rockstroh D, Colombo R, Sanchez MA, Vokurkova D, Kowalczyk J, Metherell LA, Rosenfeld RG, Pfäffle R, Dattani MT, Dauber A, Hwa V. Klammt J, et al. Nat Commun. 2018 May 29;9(1):2105. doi: 10.1038/s41467-018-04521-0. Nat Commun. 2018. PMID: 29844444 Free PMC article.

6

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. Hughes CR, et al. Among authors: metherell la. J Clin Endocrinol Metab. 2010 Jul;95(7):3497-501. doi: 10.1210/jc.2009-2731. Epub 2010 Apr 28. J Clin Endocrinol Metab. 2010. PMID: 20427498

7

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: metherell la. 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.

8

Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2.

Chung TT, Chan LF, Metherell LA, Clark AJ. Chung TT, et al. Among authors: metherell la. Clin Endocrinol (Oxf). 2010 May;72(5):589-94. doi: 10.1111/j.1365-2265.2009.03663.x. Epub 2009 Jun 24. Clin Endocrinol (Oxf). 2010. PMID: 19558534 Free PMC article.

9

Growth hormone (GH) insensitivity syndrome due to a GH receptor truncated after Box1, resulting in isolated failure of STAT 5 signal transduction.

Milward A, Metherell L, Maamra M, Barahona MJ, Wilkinson IR, Camacho-Hübner C, Savage MO, Bidlingmaier M, Clark AJ, Ross RJ, Webb SM. Milward A, et al. Among authors: metherell l. J Clin Endocrinol Metab. 2004 Mar;89(3):1259-66. doi: 10.1210/jc.2003-031418. J Clin Endocrinol Metab. 2004. PMID: 15001620

10

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. Rumié H, et al. Among authors: metherell la. Eur J Endocrinol. 2007 Oct;157(4):539-42. doi: 10.1530/EJE-07-0242. Eur J Endocrinol. 2007. PMID: 17893271

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