Results 171 to 180 of about 76,273 (258)

Mutations of P450c21 (steroid 21-hydroxylase) at Cys428, Val281, and Ser268 result in complete, partial, or no loss of enzymatic activity, respectively.

Journal of Clinical Investigation, 1991
D. wu, Bon-chu Chung
semanticscholar   +1 more source

Transcript Patterns of Bovine <i>CYP21A2</i> and Its Pseudogene in Adrenal and Ovarian Tissues. [PDF]

Genes (Basel)
Wozniak J, Stachowiak M, Switonski M, Nowacka-Woszuk J.   +3 more
europepmc   +1 more source

P450XXI (steroid 21-hydroxylase) gene deletions are not found in family studies of congenital adrenal hyperplasia.

Proceedings of the National Academy of Sciences of the United States of America, 1987
K. Matteson, J. Phillips, W. Miller, B. Chung, P. Orlando, H. Frisch, A. Ferrández, I. Burr   +7 more
semanticscholar   +1 more source

Current insights into monitoring of congenital adrenal hyperplasia. [PDF]

Front Endocrinol (Lausanne)
Leusink QM, Verploegen EEW, Adriaansen BPH, Chin X, Stikkelbroeck NMML, Span PN, Sweep FCGJ, Dona M, van Herwaarden AE, Claahsen-van der Grinten HL.   +9 more
europepmc   +1 more source

cis modification of the steroid 21-hydroxylase gene prevents its expression in the Y1 mouse adrenocortical tumor cell line.

Molecular Endocrinology, 1990
M. Szyf, David S. Milstone, B. Schimmer, K. L. Parker, Jonathan G. Seidman   +4 more
semanticscholar   +1 more source

A Novel POR G88S Mutation Causes Severe PORD and Establishes a Critical Pharmacogenomic Risk Profile.

J Clin Endocrinol Metab
Rojas Velazquez MN, Lopez Dacal J, Jørgensen FS, Sanguineti N, Sharma K, Marino R, Pérez Garrido N, Vaiani E, Ramírez P, Scaglia P, Izquierdo A, Sansó G, Ropelato MG, Bergadá I, Rey RA, Grinspon RP, Pandey AV.   +16 more
europepmc   +1 more source

Post-ACTH peak cortisol response is associated with genotype in children with nonclassic congenital adrenal hyperplasia. [PDF]

Front Endocrinol (Lausanne)
Dayno AN, Kilberg MJ, Gonter E, Gallop R, Squicciarini J, Montano C, Vogiatzi MG.   +6 more
europepmc   +1 more source

21-deoxycortisol as a second-tier test in congenital adrenal hyperplasia newborn screening in The Netherlands: two-year evaluation. [PDF]

Arch Dis Child
Olthof A, Bouva MJ, Claahsen-van der Grinten HL, Westra D, Dekkers E, Heijboer AC, Hannema SE, Boelen A.   +7 more
europepmc   +1 more source

Glucocorticoid and mineralocorticoid production in hormonally silent adrenocortical tumor tissue in dogs. [PDF]

J Vet Intern Med
van Bokhorst KL, van den Berg MF, Kooistra HS, van Wolferen ME, Timmermans-Sprang EPM, Corsini A, Golinelli S, Bechmann N, Peitzsch M, Galac S.   +9 more
europepmc   +1 more source

Microbial regulation of stress-associated signaling molecules and its role in health and disease. [PDF]

NPJ Biofilms Microbiomes
Sie C, Tropini C.
europepmc   +1 more source