Results 211 to 220 of about 76,273 (258)
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Fine-mapping of the substrate specificity of human steroid 21-hydroxylase (CYP21A2).
Journal of Steroid Biochemistry and Molecular Biology, 2019Cytochrome P450 enzymes (CYPs) are capable of catalyzing regio- and stereo-specific oxy functionalization reactions which otherwise are major challenges in organic chemistry.
A. Stoll +8 more
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Frequent deletion and duplication of the steroid 21-hydroxylase genes.
Obstetrical & Gynecological Survey, 1986Congenital adrenal hyperplasia due to 21-hydroxylase (21-OHase) deficiency is an HLA-linked disorder resulting from a mutation in the 21-OHase B gene encoding the adrenal cytochrome P450 specific for steroid 21-hydroxylation. To identify polymorphisms associated with 21-OHase deficiency, DNA samples from 22 unrelated patients with this disorder were ...
J. Werkmeister +7 more
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Steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia).
The American Journal of Medicine, 1995Congenital adrenal hyperplasia, caused by any one of a number of inborn errors of steroidogenesis in which cortisol is not sufficiently produced by the adrenal cortex, is in most cases due to a deficiency of the enzyme steroid 21-hydroxylase. Classic 21-hydroxylase deficiency occurs in about 1 in 14,000 live births. In classic 21-hydroxylase deficiency,
S. Nimkarn, M. New
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Molecular pathology of steroid 21-hydroxylase deficiency
The Journal of Steroid Biochemistry and Molecular Biology, 1991The molecular pathology of steroid 21-hydroxylase deficiency is attributable to unequal crossover-mediated gene deletion or to large- or small-scale replacement of the functional CYP21B gene sequence by a copy of the analogous CYP21A pseudogene sequence.
T, Strachan, P C, White
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Genetics of Adrenal Steroid 21-Hydroxylase Deficiency*
Endocrine Reviews, 1986Impairment of 21-hydroxylation is the most common enzymatic deficiency resulting in the syndrome of CAH, which may present either in the classical form in infants or in the nonclassical form in older individuals. Variable signs and symptoms of androgen excess are common to both types of the disorder, which are transmitted as autosomal recessive traits ...
M I, New, P W, Speiser
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Steroid 21 Hydroxylase Deficiency Congenital Adrenal Hyperplasia
Endocrinology and Metabolism Clinics of North America, 2009Steroid 21 hydroxylase deficiency is the most common form of congenital adrenal hyperplasia (CAH). The severity of this disorder depends on the extent of impaired enzymatic activity, which is caused by various mutations of the 21 hydroxylase gene. This article reviews adrenal steroidogenesis and the pathophysiology of 21 hydroxylase deficiency.
Saroj, Nimkarn +2 more
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The Journal of Clinical Endocrinology & Metabolism, 1983
The 21-hydroxylation of plasma progesterone (P) has been demonstrated in pregnant, nonpregnant, and adrenalectomized women and in men. The fractional conversion of plasma progesterone to deoxycorticosterone (DOC), [rho]P-DOC BU, among those subjects was 0.009 +/- 0.001 (mean +/- SEM, n = 32).
C A, Winkel +4 more
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The 21-hydroxylation of plasma progesterone (P) has been demonstrated in pregnant, nonpregnant, and adrenalectomized women and in men. The fractional conversion of plasma progesterone to deoxycorticosterone (DOC), [rho]P-DOC BU, among those subjects was 0.009 +/- 0.001 (mean +/- SEM, n = 32).
C A, Winkel +4 more
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Genetics of steroid 21-hydroxylase deficiency
Trends in Genetics, 1985Abstract Classical and non-classical adrenal hyperplasia due to steroid 21-hydroxylase deficiency (210HD) are HLA-linked, autosomal recessive disorders characterized by a variable degree of hyperandrogenism and cortisol deficiency. Direct screening of newborns has placed the incidence of the classical disease at 1 : 5000 to 1 : 15 000, whereas the ...
Phyllis W. Speiser, Maria I. New
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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
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Heterogeneity of the Bovine Adrenal Steroid 21-Hydroxylase
Endocrine Research, 1989The results presented indicate that purified cytochrome P-45021 which migrated upon SDS gel electrophoresis essentially as a single band, is further separable into different species by ion-exchange chromatography. The P-450 eluted from the CM-Sephadex column at different points along the buffer concentration gradient, exhibited significant differences ...
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