Huebner, Angela

Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management

Claahsen - van der Grinten, H. L., Speiser, P. W., Ahmed, S. F., Arlt, W., Auchus, R. J., Falhammar, H., Flück, C. E., Guasti, L., Huebner, A., Kortmann, B. B. M., et al. (2022) · Endocrine Reviews

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

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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

Deficiency of ferritin heavy-chain nuclear import in Triple A syndrome implies nuclear oxidative damage as the primary disease mechanism

Storr, H. L., Kind, B., Parfitt, D. A., Chapple, J. P., Lorenz, M., Koehler, K., Huebner, A., & Clark, A. J. L. (2009) · Molecular Endocrinology

Nuclear Structure and FunctionNeurological diseases and metabolism

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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

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The nuclear pore complex protein ALADIN is anchored via NDC1 but not via POM121 and GP210 in the nuclear envelope

Kind, B., Koehler, K., Lorenz, M., & Huebner, A. (2009) · Biochemical and Biophysical Research Communications

Nuclear Structure and FunctionDrug Transport and Resistance Mechanisms

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Effects of androgen excess and glucocorticoid exposure on bone health in adult patients with 21-hydroxylase deficiency

Auer, M. K., Paizoni, L., Hofbauer, L. C., Rauner, M., Chen, Y., Schmidt, H., Huebner, A., Bidlingmaier, M., & Reisch, N. (2020) · The Journal of Steroid Biochemistry and Molecular Biology

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

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