Metherell, Louise A.

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

Metherell, L. A., Chapple, J. P., Cooray, S., David, A., Becker, C., Rüschendorf, F., Naville, D., Begeot, M., Khoo, B., Nürnberg, P., et al. (2005) · Nature Genetics

Adrenal Hormones and DisordersStress Responses and Cortisol

Cited by 437

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency

Metherell, L. A., Naville, D., Halaby, G., Begeot, M., Huebner, A., Nürnberg, G., Nürnberg, P., Green, J., Tomlinson, J. W., Krone, N. P., et al. (2009) · The Journal of Clinical Endocrinology & Metabolism

Adrenal Hormones and DisordersSexual Differentiation and Disorders

Cited by 162

Inherited ACTH insensitivity illuminates the mechanisms of ACTH action

Clark, A. J. L., Metherell, L. A., Cheetham, M. E., & Huebner, A. (2005) · Trends in Endocrinology & Metabolism

Adrenal Hormones and DisordersReceptor Mechanisms and Signaling

Cited by 82

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, T. T., Webb, T. R., Chan, L. F., Cooray, S. N., Metherell, L. A., King, P. J., Chapple, J. P., & Clark, A. J. L. (2008) · The Journal of Clinical Endocrinology & Metabolism

Adrenal Hormones and DisordersReceptor Mechanisms and Signaling

Cited by 82

Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells

Ruiz-Babot, G., Balyura, M., Hadjidemetriou, I., Ajodha, S. J., Taylor, D. R., Ghataore, L., Taylor, N. F., Schubert, U., Ziegler, C. G., Storr, H. L., et al. (2018) · Cell Reports

Adrenal Hormones and DisordersPluripotent Stem Cells Research

Cited by 65