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Mutations in a novel gene, encoding a single transmembrane domain protein are associated with familial glucocorticoid deficiency type 2.
Metherell, L.A., Cooray, S., Huebner, A., Rueschendorf, F.
ORCID: https://orcid.org/0000-0001-5640-810X, Naville, D., Begeot, M. and Clark, A.J.L.
Endocrine Research 30
(4): 889-890.
1 January 2004
Requirement of WT1 for gonad and adrenal development: insights from transgenic animals.
Vidal, V. and Schedl, A.
Endocrine Research 26
(4): 1075-1082.
November 2000
Structure of adrenodoxin and function in mitochondrial steroid hydroxylation.
Bernhardt, R., Mueller, A., Uhlmann, H., Grinberg, A., Mueller, J.J. and Heinemann, U.
Endocrine Research 24
: 531-539.
1 January 1998
Aldosterone synthase gene in patients suffering from hyperaldosteronism.
Hampf, M., Widimsky, J. and Bernhardt, R.
Endocrine Research 24
: 877-880.
1 January 1998
Changed ratios of glucocorticoids/mineralocorticoids caused by point mutations in the putative i helix regions of CYP11B1 and CYP11B2.
Boettner, B. and Bernhardt, R.
Endocrine Research 22
: 455-461.
1 January 1996
Functional expression of the guinea pig 11b-hydroxylase in COS-1 cells.
Buelow, H.E., Moebius, K., Baehr, V. and Bernhardt, R.
Endocrine Research 22
: 479-484.
1 January 1996
Sequence of the 11beta hydroxylase gene from the cape baboon (papio ursinus).
Hampf, M., Swart, A.C. and Swart, P.
Endocrine Research 22
: 495-499.
1 January 1996
Activity of 5' deletion mutants of the human CYP11B1 promoter in H295R cells.
Lenz, D. and Bernhardt, R.
Endocrine Research 22
: 501-502.
1 January 1996
Cloning of CYP11B1 and CYP11B2 from normal human adrenals and their functional expression in COS-7 and V79 chinese hamster cells.
Denner, K., Doehmer, J. and Bernhardt, R.
Endocrine Research 21
: 443-448.
1 January 1995
Human adrenal CYP11B1: localization by in situ-hybridization and functional expression in cell cultures.
Erdmann, B., Denner, K., Gerst, H., Lenz, D. and Bernhardt, R.
Endocrine Research 21
: 425-435.
1 January 1995
Structure-function studies on mutants of adrenal ferredoxin.
Uhlmann, H. and Bernhardt, R.
Endocrine Research 21
: 307-312.
1 January 1995
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