Deletion of complement C4 and steroid 21-hydroxylase genes in the HLA class III region.
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Structural basis of the polymorphism of human complement components C4A and C4B: gene size, reactivity and antigenicity.Individuals with IgA deficiency and common variable immunodeficiency share polymorphisms of major histocompatibility complex class III genesMolecular characterization of the HLA-linked steroid 21-hydroxylase B gene from an individual with congenital adrenal hyperplasiaInfections of People with Complement Deficiencies and Patients Who Have Undergone SplenectomyC4B null alleles are not associated with genetic polymorphisms in the adjacent gene CYP21A2 in autismPulsed 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.Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiencyC4 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 hyperplasiaGene conversions and unequal crossovers between CYP21 (steroid 21-hydroxylase gene) and CYP21P involve different mechanismsDeficiencies 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.Lack of evidence of a specific role for C4A gene deficiency in determining disease susceptibility among C4-deficient patients with systemic lupus erythematosus (SLE).Mutations of P450c21 (steroid 21-hydroxylase) at Cys428, Val281, and Ser268 result in complete, partial, or no loss of enzymatic activity, respectivelyMajor histocompatibility complex class III genes and susceptibility to immunoglobulin A deficiency and common variable immunodeficiency.P450XXI (steroid 21-hydroxylase) gene deletions are not found in family studies of congenital adrenal hyperplasia.Molecular mapping of the human major histocompatibility complex by pulsed-field gel electrophoresisGene conversion-like events cause steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia.Polymorphism of the human complement C4 and steroid 21-hydroxylase genes. Restriction fragment length polymorphisms revealing structural deletions, homoduplications, and size variants.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.Evolutionary origin of mutations in the primate cytochrome P450c21 geneGene conversion in steroid 21-hydroxylase genes.Contrasting evolutionary histories among tightly linked HLA loci.Structural differences between the two human complement C4 isotypes affect the humoral immune response.Assessment of complement C4 gene copy number using the paralog ratio test.Determining the one, two, three, or four long and short loci of human complement C4 in a major histocompatibility complex haplotype encoding C4A or C4B proteins.Phenotypes, genotypes and disease susceptibility associated with gene copy number variations: complement C4 CNVs in European American healthy subjects and those with systemic lupus erythematosus.Great genotypic and phenotypic diversities associated with copy-number variations of complement C4 and RP-C4-CYP21-TNX (RCCX) modules: a comparison of Asian-Indian and European American populations.Haplotypes of the steroid 21-hydroxylase gene region encoding mild steroid 21-hydroxylase deficiency.Genetic basis of human complement C4A deficiency. Detection of a point mutation leading to nonexpression.Counterregulatory effects of interferon-gamma and endotoxin on expression of the human C4 genes.A frequent polymorphism of the complement component C4 gene.Molecular basis for the deficiency of complement 1 inhibitor in type I hereditary angioneurotic edema.Major-histocompatibility-complex gene markers and restriction-fragment analysis of steroid 21-hydroxylase (CYP21) and complement C4 genes in classical congenital adrenal hyperplasia patients in a single population.Deletion of the steroid 21-hydroxylase and complement C4 genes in congenital adrenal hyperplasiaHeterogeneity in the gene locus for steroid 21-hydroxylase deficiency.Phenotyping of human complement component C4, a class-III HLA antigen.Null alleles of human complement C4. Evidence for pseudogenes at the C4A locus and for gene conversion at the C4B locus.Direct observation of the gene organization of the complement C4 and 21-hydroxylase loci by pulsed field gel electrophoresis.
P2860
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P2860
Deletion of complement C4 and steroid 21-hydroxylase genes in the HLA class III region.
description
1985 nî lūn-bûn
@nan
1985年の論文
@ja
1985年論文
@yue
1985年論文
@zh-hant
1985年論文
@zh-hk
1985年論文
@zh-mo
1985年論文
@zh-tw
1985年论文
@wuu
1985年论文
@zh
1985年论文
@zh-cn
name
Deletion of complement C4 and steroid 21-hydroxylase genes in the HLA class III region.
@en
type
label
Deletion of complement C4 and steroid 21-hydroxylase genes in the HLA class III region.
@en
prefLabel
Deletion of complement C4 and steroid 21-hydroxylase genes in the HLA class III region.
@en
P2093
P2860
P1433
P1476
Deletion of complement C4 and steroid 21-hydroxylase genes in the HLA class III region.
@en
P2093
A Palsdottir
M C Carroll
R R Porter
P2860
P304
P407
P577
1985-10-01T00:00:00Z