Steroid 21 Hydroxylase
Mostrando 1-12 de 63 artigos, teses e dissertações.
-
1. Classic and current concepts in adrenal steroidogenesis: a reappraisal
ABSTRACT Adrenal steroid biosynthesis and its related pathology are constant evolving disciplines. In this paper, we review classic and current concepts of adrenal steroidogenesis, plus control mechanisms of steroid pathways, distribution of unique enzymes and cofactors, and major steroid families. We highlight the presence of a “mineralocorticoid (MC) pat
Archives of Endocrinology and Metabolism. Publicado em: 2022
-
2. Estudo da proteína P450 óxido-redutase e dos citocromos hepáticos 2C19 e 3A4 como possíveis moduladores do fenótipo da deficiência da 21-hidroxilase / Study of P450 oxidoreductase protein and hepatic cytochromes 2C19 and 3A4 as a potential modulatory factors in 21-hydroxylase deficiency phenotype
A deficiência da 21-hidroxilase é uma doença genética comum, causada por mutações no gene CYP21A2, que codifica a enzima 21-hidroxilase (P450c21). A deficiência da 21-hidroxilase afeta a síntese de cortisol e aldosterona e promove acúmulo de precursores, que são desviados para a síntese de andrógenos. Observa-se três principais fenótipos: a for
Publicado em: 2009
-
3. Hiperplasia congenita das supra-renais por deficiencia da 21-hidroxilase : crescimento e composição corporal de crianças com a forma classica, variante perdedora de sal / Congenital adrenal hyperplasia due to 21-hydroxylase deficiency : growth and body composition of children with salt wasting classification
o objetivo do presente estudo foi avaliar o crescimento e a composição corporal de crianças com Hiperplasia Congênita das Supra-renais. Foram incluídas no estudo 21 crianças pré-puberes (8M/I3F) entre 2,1 e 10,2 anos de idade, portadoras de Hiperplasia Congênita das Supra-renais por deficiência de 21-hidroxilase forma clássica perdedora de sal, que
Publicado em: 2007
-
4. Determinação de mutações e polimorfismos no gene CYP11B1 humano em individuos com deficiencia de 11 Beta-hidroxilase / c Junia Yara Penachioni
Congenital adrenal hyperplasia (CAR) is one of the most common inherited endocrine diseases. More than 90% of cases are due to steroid 21-0H deficiency, where as 5-8% are caused by 11 beta -hydroxylase (11 beta -0H) deficiency, the inherited inability to synthesize cortisol (failure to convert 11-deoxycortisolto cortisol). ... Note: The complete abstract is
Publicado em: 2001
-
5. Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations.
Lesions in the gene encoding steroid 21-hydroxylase [steroid hydrogen-donor: oxygen oxidoreductase (21-hydroxylating), EC 1.14.99.10] result in defective adrenal steroid synthesis; the severe forms are known as congenital adrenal hyperplasia. To facilitate complete characterization of mutations in this region of tandemly repeated genes, we have developed sel
-
6. Deletion of the steroid 21-hydroxylase and complement C4 genes in congenital adrenal hyperplasia.
DNA was analysed from 20 patients with congenital adrenal hyperplasia due to cytochrome P-450 steroid 21-hydroxylase deficiency. Using probes recognising sequences in both the 21-hydroxylase gene and the adjacent fourth component of complement (C4), one patient was found to have a homozygous deletion of DNA which encompassed the C4B and 21-hydroxylase B gene
-
7. Genesis by meiotic unequal crossover of a de novo deletion that contributes to steroid 21-hydroxylase deficiency.
The HLA-linked human steroid 21-hydroxylase gene CYP21B and its closely homologous pseudogene CYP21A are each normally located centromeric to a fourth component of complement (C4) gene, C4B and C4A, respectively, in an organization suggesting tandem duplication of a ca. 30-kilobase DNA unit containing a CYP21 gene and a C4 gene. Such an organization has been
-
8. Heterogeneity in the gene locus for steroid 21-hydroxylase deficiency.
DNA was analysed from 33 patients with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. In each case Southern blots were prepared from a number of restriction enzyme digests and hybridised with probes for both the 21-hydroxylase and the adjacent fourth component of complement (C4). Evidence for deletion of the active 21-hydroxylase ge
-
9. Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man.
The genes for four components (C) of complement in the human major histocompatibility complex (HLA) have been aligned previously in a series of overlapping cosmid cloned inserts. Those inserts, which contained the two C4 genes C4A and C4B, hybridized with human adrenal mRNA, indicating that they contain a gene expressed in the adrenal. The mRNA fraction of 2
-
10. Haplotypes of the steroid 21-hydroxylase gene region encoding mild steroid 21-hydroxylase deficiency.
Haplotypes of the complement 4 (C4) and steroid 21-hydroxylase [21-OHase; steroid hydrogen-donor: oxygen oxidoreductase (21-hydroxylating), EC 1.14.99.10] repeated gene complex were studied in nine families with at least one member affected with a mild form of 21-OHase deficiency. DNA probes from different parts of the repeated C4/21-OHase unit were used to
-
11. Nonsense mutation causing steroid 21-hydroxylase deficiency.
We determined the sequence of a mutant CYP21B gene isolated from a patient with the severe, "salt-wasting" form of congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. Codon 318 in this gene is changed from CAG, encoding glutamine, to TAG, a nonsense codon. This is predicted to result in a completely nonfunctional enzyme due to premature
-
12. Structure of a bovine gene for P-450c21 (steroid 21-hydroxylase) defines a novel cytochrome P-450 gene family.
P-450c21, a cytochrome P-450 enzyme [steroid 21-monooxygenase (steroid 21-hydroxylase), EC 1.14.99.10], mediates the 21-hydroxylation of glucocorticoid and mineralocorticoid hormones in the adrenal gland. The complete sequence of a bovine P-450c21 gene shows it is 3447 base pairs long and contains 10 exons. The intron/exon organization and encoded amino acid