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Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells.
Ruiz-Babot G, Balyura M, Hadjidemetriou I, Ajodha SJ, Taylor DR, Ghataore L, Taylor NF, Schubert U, Ziegler CG, Storr HL, Druce MR, Gevers EF, Drake WM, Srirangalingam U, Conway GS, King PJ, Metherell LA, Bornstein SR, Guasti L. Ruiz-Babot G, et al. Among authors: king pj. Cell Rep. 2018 Jan 30;22(5):1236-1249. doi: 10.1016/j.celrep.2018.01.003. Cell Rep. 2018. PMID: 29386111 Free PMC article.
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: king pj. 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.
Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families.
Igreja S, Chahal HS, King P, Bolger GB, Srirangalingam U, Guasti L, Chapple JP, Trivellin G, Gueorguiev M, Guegan K, Stals K, Khoo B, Kumar AV, Ellard S, Grossman AB, Korbonits M; International FIPA Consortium. Igreja S, et al. Hum Mutat. 2010 Aug;31(8):950-60. doi: 10.1002/humu.21292. Hum Mutat. 2010. PMID: 20506337 Free PMC article.
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: king pj. 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.
262 results