Results 161 to 170 of about 26,513 (179)
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High Frequency of Nonclassical Steroid 21-Hydroxylase Deficiency
Obstetrical & Gynecological Survey, 1986Nonclassical steroid 21-hydroxylase deficiency is an autosomal recessive disorder that is defined by clinical and hormonal criteria that distinguishes it from the classical 21-hydroxylase deficiency. No estimates of the gene frequency of nonclassical 21-hydroxylase deficiency, also called attenuated, late-onset, acquired, and cryptic adrenal ...
P W, Speiser +5 more
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Steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia
The Journal of Steroid Biochemistry and Molecular Biology, 2017Congenital adrenal hyperplasia (CAH) refers to a group of inherited genetic disorders involving deficiencies in enzymes that convert cholesterol to cortisol within the adrenal cortex. There are five key enzymes involved in the production of cortisol. Of these key enzymes, deficiency of 21-hydroxylase is the most commonly defective enzyme leading to CAH
Alan A, Parsa, 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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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
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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
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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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Frequent Deletion and Duplication of the Steroid 21-Hydroxylase Genes
Obstetrical & Gynecological Survey, 1987Congenital 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 W, Werkmeister +3 more
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Analysis of Mutations Causing Steroid 21-hydroxylase Deficiency
Endocrine Research, 1989Steroid 21-hydroxylase deficiency is the most frequent cause of congenital adrenal hyperplasia, an inherited inability to synthesize cortisol. Mutations causing this disorder have been characterized by hybridization analysis of patient DNA samples using cDNA and oligonucleotide probes, and by cloning and sequencing of mutant 21-hydroxylase (CYP21B ...
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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,
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Steroid 21-hydroxylase activity by fibroblasts during the cell cycle
Steroids, 1969Abstract Synchronized cultures of murine fibroblasts are demonstrated to be capable of 21-hydroxylating progesterone. This activity is most readily demonstrable during the “S” phase of the cell cycle. In mammals the capacity for this specific hydroxylation has heretofore only been shown by steroidogenic cells.
D L, Berliner, P, Garzon
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Characterization of a new splicing mutation in the steroid 21-hydroxylase gene
Russian Journal of Bioorganic Chemistry, 2011Novel mutation in CYP21A2 gene causing the steroid 21-hydroxylase deficiency - C to G substitution in 7-position ofintron 2 acceptor splice site (c.290-7C>G) was identified. The effect of the mutation on splicing was checked in the system of CYP21A minigene expression in the cultured mammalian cells.
P M, Rubtsov +5 more
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