about
Shared HLA class II-associated genetic susceptibility and resistance, related to the HLA-DQB1 gene, in IgA deficiency and common variable immunodeficiencyThe molecular biology, biochemistry, and physiology of human steroidogenesis and its disordersHuman cholesterol side-chain cleavage enzyme, P450scc: cDNA cloning, assignment of the gene to chromosome 15, and expression in the placentaCloning of cDNA encoding steroid 11 beta-hydroxylase (P450c11)Molecular cloning and sequence analysis of cDNA encoding human cholesterol 7 alpha-hydroxylaseAn overview of molecular diagnosis of steroid 21-hydroxylase deficiencyFunctional studies of p.R132C, p.R149C, p.M283V, p.E431K, and a novel c.652-2A>G mutations of the CYP21A2 geneMolecular characterization of the HLA-linked steroid 21-hydroxylase B gene from an individual with congenital adrenal hyperplasiaRainbow trout cytochrome P-450c17 (17 alpha-hydroxylase/17,20-lyase). cDNA cloning, enzymatic properties and temporal pattern of ovarian P-450c17 mRNA expression during oogenesis.A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form.Mutation in the CYP21B gene (Ile-172----Asn) causes steroid 21-hydroxylase deficiency.Pulsed field gel electrophoresis identifies a high degree of variability in the number of tandem 21-hydroxylase and complement C4 gene repeats in 21-hydroxylase deficiency haplotypes.Characterization of frequent deletions causing steroid 21-hydroxylase deficiency.21-hydroxylase deficiency families with HLA identical affected and unaffected sibs.Variations in the 3'UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia.Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiencyGenomics of the major histocompatibility complex: haplotypes, duplication, retroviruses and disease.Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: possible gene conversion products.Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasiaNon-expression of a common mutation in the 21-hydroxylase gene: implications for prenatal diagnosis and carrier testing.Characterisation of CAH alleles with non-radioactive DNA single strand conformation polymorphism analysis of the CYP21 gene.Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: evidence of different genetic mechanisms involved in the production of the disease.The swine steroid 21-hydroxylase gene (CYP21): cloning and mapping within the swine leucocyte antigen complex.Gene conversions and unequal crossovers between CYP21 (steroid 21-hydroxylase gene) and CYP21P involve different mechanismsStructure-based analysis of five novel disease-causing mutations in 21-hydroxylase-deficient patients.Modular variations of the human major histocompatibility complex class III genes for serine/threonine kinase RP, complement component C4, steroid 21-hydroxylase CYP21, and tenascin TNX (the RCCX module). A mechanism for gene deletions and disease asMutations of P450c21 (steroid 21-hydroxylase) at Cys428, Val281, and Ser268 result in complete, partial, or no loss of enzymatic activity, respectivelyThree-dimensional structure of steroid 21-hydroxylase (cytochrome P450 21A2) with two substrates reveals locations of disease-associated variantsCYP21 mutations and congenital adrenal hyperplasia.Transcript encoded on the opposite strand of the human steroid 21-hydroxylase/complement component C4 gene locusStructure-phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia.P450XXI (steroid 21-hydroxylase) gene deletions are not found in family studies of congenital adrenal hyperplasia.Nonclassical congenital adrenal hyperplasia and the polycystic ovarian syndrome.Gene conversion-like events cause steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia.CYP21A2 gene mutations in congenital adrenal hyperplasia: genotype-phenotype correlation in Turkish childrenNonsense mutation causing steroid 21-hydroxylase deficiency.Rearrangements and point mutations of P450c21 genes are distinguished by five restriction endonuclease haplotypes identified by a new probing strategy in 57 families with congenital adrenal hyperplasia.Cytochrome P450c17 (steroid 17 alpha-hydroxylase/17,20 lyase): cloning of human adrenal and testis cDNAs indicates the same gene is expressed in both tissues.Congenital adrenal hyperplasia and P450 oxidoreductase deficiency.The -104G nucleotide of the human CYP21 gene is important for CYP21 transcription activity and protein interaction.
P2860
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P2860
description
1986 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1986 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
article publié dans les Procee ...... f the United States of America
@fr
artículu científicu espublizáu en 1986
@ast
im Juli 1986 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 1986/07/01)
@sk
vědecký článek publikovaný v roce 1986
@cs
wetenschappelijk artikel (gepubliceerd op 1986/07/01)
@nl
наукова стаття, опублікована в липні 1986
@uk
name
Structure of human steroid 21-hydroxylase genes
@ast
Structure of human steroid 21-hydroxylase genes
@en
Structure of human steroid 21-hydroxylase genes
@nl
type
label
Structure of human steroid 21-hydroxylase genes
@ast
Structure of human steroid 21-hydroxylase genes
@en
Structure of human steroid 21-hydroxylase genes
@nl
prefLabel
Structure of human steroid 21-hydroxylase genes
@ast
Structure of human steroid 21-hydroxylase genes
@en
Structure of human steroid 21-hydroxylase genes
@nl
P2093
P2860
P3181
P356
P1476
Structure of human steroid 21-hydroxylase genes
@en
P2093
P2860
P304
P3181
P356
10.1073/PNAS.83.14.5111
P407
P577
1986-07-01T00:00:00Z