Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene
about
Human adrenodoxin reductase: two mRNAs encoded by a single gene on chromosome 17cen----q25 are expressed in steroidogenic tissuesA p47-phox pseudogene carries the most common mutation causing p47-phox- deficient chronic granulomatous diseaseThe 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 placentaHLA associations with inclusion body myositisPitfalls in molecular diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasiaHuman Cytochrome P450 21A2, the Major Steroid 21-Hydroxylase: STRUCTURE OF THE ENZYME·PROGESTERONE SUBSTRATE COMPLEX AND RATE-LIMITING C-H BOND CLEAVAGEMolecular cloning and expression of rabbit sterol 12alpha-hydroxylaseAn overview of molecular diagnosis of steroid 21-hydroxylase deficiencyMolecular characterization of the HLA-linked steroid 21-hydroxylase B gene from an individual with congenital adrenal hyperplasiaStructure of human steroid 21-hydroxylase genesRainbow 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.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.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.Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single centerAberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: possible gene conversion products.C4 null phenotypes among lupus erythematosus patients are predominantly the result of deletions covering C4 and closely linked 21-hydroxylase A genes.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 mechanismsModular 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 asDeficiencies of human complement component C4A and C4B and heterozygosity in length variants of RP-C4-CYP21-TNX (RCCX) modules in caucasians. The load of RCCX genetic diversity on major histocompatibility complex-associated disease.Molecular analysis of patient and carrier genes with congenital steroid 21-hydroxylase deficiency by using polymerase chain reaction and single strand conformation polymorphism.Abiraterone acetate to lower androgens in women with classic 21-hydroxylase deficiency.Common genetic variants of the human steroid 21-hydroxylase gene (CYP21A2) are related to differences in circulating hormone levels.Mutations of P450c21 (steroid 21-hydroxylase) at Cys428, Val281, and Ser268 result in complete, partial, or no loss of enzymatic activity, respectivelyCYP21 mutations and congenital adrenal hyperplasia.Transcript encoded on the opposite strand of the human steroid 21-hydroxylase/complement component C4 gene locusP450XXI (steroid 21-hydroxylase) gene deletions are not found in family studies of congenital adrenal hyperplasia.Gene conversion-like events cause steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia.Research Resource: Correlating Human Cytochrome P450 21A2 Crystal Structure and Phenotypes of Mutations in Congenital Adrenal Hyperplasia.Nonsense 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.
P2860
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P2860
Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene
description
1986 nî lūn-bûn
@nan
1986 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1986 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1986年の論文
@ja
1986年論文
@yue
1986年論文
@zh-hant
1986年論文
@zh-hk
1986年論文
@zh-mo
1986年論文
@zh-tw
1986年论文
@wuu
name
Complete nucleotide sequence o ...... pseudogene and a genuine gene
@ast
Complete nucleotide sequence o ...... pseudogene and a genuine gene
@en
Complete nucleotide sequence o ...... pseudogene and a genuine gene
@nl
type
label
Complete nucleotide sequence o ...... pseudogene and a genuine gene
@ast
Complete nucleotide sequence o ...... pseudogene and a genuine gene
@en
Complete nucleotide sequence o ...... pseudogene and a genuine gene
@nl
prefLabel
Complete nucleotide sequence o ...... pseudogene and a genuine gene
@ast
Complete nucleotide sequence o ...... pseudogene and a genuine gene
@en
Complete nucleotide sequence o ...... pseudogene and a genuine gene
@nl
P2093
P2860
P3181
P356
P1476
Complete nucleotide sequence o ...... pseudogene and a genuine gene
@en
P2093
H Yoshioka
Y Fujii-Kuriyama
P2860
P304
P3181
P356
10.1073/PNAS.83.9.2841
P407
P577
1986-05-01T00:00:00Z