Results 141 to 150 of about 3,096 (185)

Mutations in Steroid 21-Hydroxylase (CYP21)

Human Mutation, 1994
The 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, M T, Tusie-Luna, M I, New, P W, Speiser   +3 more
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Steroid 21-Hydroxylase Deficiency in Mice*

Endocrinology, 1988
The 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, T, Sagai, J, Hata, T, Shiroishi, K, Moriwaki   +4 more
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Molecular Cloning of Steroid 21-Hydroxylase

Endocrine Research, 1984
Congenital 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
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Disorders of steroid 11β-hydroxylase isozymes

Trends in Endocrinology & Metabolism, 1992
Steroid 11 beta-hydroxylase activity in the adrenal cortex is required for the synthesis of the major glucocorticoids and mineralocorticoids, but different isozymes mediate this conversion in the zona fasciculata, where cortisol is produced, and the zona glomerulosa, the site of aldosterone synthesis.
P C, White, L, Pascoe
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Disorders of Steroid 11β-Hydroxylase Isozymes*

Endocrine Reviews, 1994
The most active corticosteroids are 11 beta-hydroxylated. Humans have two isozymes with 11 beta-hydroxylase activity that are respectively required for cortisol and aldosterone synthesis. CYP11B1 (11 beta-hydroxylase) is expressed at high levels and is regulated by ACTH, whereas CYP11B2 (aldosterone synthase) is normally expressed at low levels and is ...
P C, White, K M, Curnow, L, Pascoe
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An Inhibitor of Adrenal Steroid 11β-Hydroxylase

Nature, 1964
Trans-1,4-bis (2-chlorobenzylaminomethyl) cyclohexane dihydrochloride (‘AY–9944’)1 has been shown to represent a novel class of cholesterol biosynthesis inhibitors which act by interfering with the enzymatic conversion of 7-dehydrocholesterol to cholesterol2,3. In laboratory animals, ‘AY–9944’ significantly depressed serum sterol-levels4.
M L, GIVNER, M, KRAML, D, DVORNIK, R, GAUDRY   +3 more
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Steroid 11β-hydroxylase deficiency and related disorders

Endocrinology and Metabolism Clinics of North America, 2001
Three disorders result from mutations involving two closely linked 11 beta-hydroxylase genes. Steroid 11 beta-hydroxylase deficiency results from mutations in CYP11B1. This is a form of congenital adrenal hyperplasia (CAH) characterized by hypertension and signs of androgen excess. Mutations in CYP11B2 cause aldosterone synthase deficiency, an isolated
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Genetics of Steroid 21-Hydroxylase Deficiency

1987
Publisher 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
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Steroid 17α-hydroxylase of the rat adrenal

Journal of Steroid Biochemistry, 1979
Abstract The 105,000 g microsomal fraction of male or female rat adrenal contains steroid 17α-hydroxylase activity, as measured by a tritium exchange assay using 17α-[ 3 H]-pregnenolone as substrate. Administration of estrogen caused a pronounced increase in enzyme activity in the adrenals of both sexes, but the increase was greater in males. Ovine
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The presence of 6β-steroid hydroxylase in human cornea

Journal of Steroid Biochemistry, 1976
Abstract Human cornea were excised at the time of surgical procedure from patients undergoing radical surgery. Three separate incubations were performed in Eagle's minimum essential medium with [4- 14 C]-progesterone as precursor for five days. From the initial radioactivity, 6.9% was biotransformed to 6β-hydroxy-4-pregnene-3,20-dione.
A J, Gallegos, P D, Partida, P, Garzón
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