Results 261 to 270 of about 119,945 (311)
Some of the next articles are maybe not open access.
Regulation of 21-Hydroxylase activity by steroids
Endocrine Research, 1995In this study, we investigated the effect of steroids on guinea pig and bovine adrenal steroidogenesis, especially 21-hydroxylase activity. Analysis of guinea pig adrenal steroids indicated the presence of high concentrations of androstenedione in the guinea pig adrenal; furthermore, in vitro studies using guinea pig adrenal cortex cells in primary ...
A, Bélanger +4 more
openaire +2 more sources
Mutations in Steroid 21-Hydroxylase (CYP21)
Human Mutation, 1994The inherited inability to synthesize cortisol is termed congenital adrenal hyperplasia. More than 90% of cases are caused by 21-hydroxylase deficiency. This syndrome is characterized by signs of androgen excess and often mineralocorticoid deficiency. Steroid 21-hydroxylase (P450c21) is a microsomal enzyme expressed in the adrenal gland that catalyzes ...
P C, White +3 more
openaire +2 more sources
Regulation of 21-hydroxylase Gene Expression
Endocrine Research, 1989The steroid 21-hydroxylase (21-OH) gene is selectively expressed in the adrenal cortex and is transcriptionally regulated by ACTH. We examined the role of the 5'-flanking sequences of 21-OH in this regulated expression by analyzing their ability to direct the expression of a human growth hormone (hGH) reporter gene upon transfection into Y1 mouse ...
J D, Handler +5 more
openaire +2 more sources
Steroid 21-Hydroxylase Deficiency in Mice*
Endocrinology, 1988The enzyme steroid 21-hydroxylase (21-OHase) plays a key role in adrenal steroidogenesis. Defects in this enzyme are responsible for one of the most common inborn errors of metabolism in humans. Duplicated genes for the enzyme are located in the class III region of the major histocompatibility complex (MHC), HLA.
H, Gotoh +4 more
openaire +2 more sources
Molecular pathology of 21‐hydroxylase deficiency
Journal of Inherited Metabolic Disease, 1994SummarySteroid 21‐hydroxylase deficiency is a recessively inherited disorder of adrenal steroidogenesis. Different clinical variants map to a single geneCYP21B, which maps within the HLA complex and is located about 30 kb proximal to a very closely related 21‐hydroxylase pseudogene,CYP21A.
openaire +2 more sources
Molecular Cloning of Steroid 21-Hydroxylase
Endocrine Research, 1984Congenital adrenal hyperplasia due to 21-hydroxylase (21-OH) deficiency is HLA-linked. The haplotype HLA-(A3);Bw47;DR7 is strongly associated with 21-OH deficiency and always carries a null allele at the complement C4A (Rodgers) locus. It seemed likely that this haplotype carries a deletion encompassing both the C4A and 21-OH loci. We hypothesized that
P C, White, B, Dupont, M I, New
openaire +3 more sources
1993
Cortisol synthesis in the zona fasciculata of the adrenal cortex requires five enzymatic steps: the cholesterol side chain is cleaved to yield pregnenolone, which is dehydrogenated at the 3β position to progesterone, which is successively hydroxylated at the 17α, 21 and 11β positions. The side-chain cleavage and the three hydroxylations are mediated by
openaire +1 more source
Cortisol synthesis in the zona fasciculata of the adrenal cortex requires five enzymatic steps: the cholesterol side chain is cleaved to yield pregnenolone, which is dehydrogenated at the 3β position to progesterone, which is successively hydroxylated at the 17α, 21 and 11β positions. The side-chain cleavage and the three hydroxylations are mediated by
openaire +1 more source
2018
The steroid 21-hydroxylase (CYP21) enzyme is required for cortisol and aldosterone biosynthesis, and its deficiency is the most common cause of congenital adrenal hyperplasia. The disorder is characterised by a variable degree of renal salt-losing caused by aldosterone insufficiency and virilisation as a result of exposure to excess androgens produced ...
openaire +1 more source
The steroid 21-hydroxylase (CYP21) enzyme is required for cortisol and aldosterone biosynthesis, and its deficiency is the most common cause of congenital adrenal hyperplasia. The disorder is characterised by a variable degree of renal salt-losing caused by aldosterone insufficiency and virilisation as a result of exposure to excess androgens produced ...
openaire +1 more source
Phenotypic evolution of classic 21-hydroxylase deficiency
Clinical Endocrinology, 1996SummaryWe describe a female patient who was diagnosed and treated at birth for a classic form of salt‐losing congenital adrenal hyperplasia. At 17 years of age, against medical advice, she discontinued both mineralocorticoid and glucocorticoid replacement with no resulting clinical symptoms other than the occurrence of amenorrhoea.
W H, Hoffman +6 more
openaire +2 more sources
Genetics of Steroid 21-Hydroxylase Deficiency
1987Publisher Summary Congenital adrenal hyperplasia because of steroid 21-hydroxylase (21-OHase) deficiency is one of the most common inborn errors of metabolism. The 21-OHase locus is closely linked to the HLA major histocompatibility complex, and 21-OHase deficiency alleles show characteristic associations with particular HLA antigens and with alleles
openaire +2 more sources