The chimeric CYP21P/CYP21 gene and 21-hydroxylase deficiency (Q35632447)

9 August 2017

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title

The chimeric CYP21P/CYP21 gene and 21-hydroxylase deficiency (English)

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9 August 2017

Hsien-Hsiung Lee

1

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PubMed ID

14730433

9 August 2017

language of work or name

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17 January 2004

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Journal of Human Genetics

9 August 2017

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9 August 2017

49

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9 August 2017

2

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9 August 2017

65-72

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https://scigraph.springernature.com/pub.10.1007/s10038-003-0115-2

9 August 2017

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Identification of four novel mutations in the CYP21 gene in congenital adrenal hyperplasia in the Chinese

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Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia

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Characterization of frequent deletions causing steroid 21-hydroxylase deficiency

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Tenascin-X: a novel extracellular matrix protein encoded by the human XB gene overlapping P450c21B

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Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees

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Identification of molecular defects causing congenital adrenal hyperplasia by cloning and differential hybridization of polymerase chain reaction-amplified 21-hydroxylase (CYP21) genes

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Evidence for frequent gene conversion in the steroid 21-hydroxylase P-450(C21) gene: implications for steroid 21-hydroxylase deficiency

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Mutation of IVS2 -12A/C>G in combination with 707-714delGAGACTAC in the CYP21 gene is caused by deletion of the C4-CYP21 repeat module with steroid 21-hydroxylase deficiency.

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CYP21 mutations and congenital adrenal hyperplasia

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Structural analysis of the chimeric CYP21P/CYP21 gene in steroid 21-hydroxylase deficiency.

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Hypervariable 'minisatellite' regions in human DNA.

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Molecular genetic analysis of patients carrying steroid 21-hydroxylase deficiency in the Mexican population: identification of possible new mutations and high prevalence of apparent germ-line mutations

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Gene conversion in steroid 21-hydroxylase genes.

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Reverse dot-blot hybridization as an improved tool for the molecular diagnosis of point mutations in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency

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Identification of the recombination site within the steroid 21-hydroxylase gene (CYP21) of the HLA-B47,DR7 haplotype

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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

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12 December 2020

HLA-linked congenital adrenal hyperplasia results from a defective gene encoding a cytochrome P-450 specific for steroid 21-hydroxylation

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12 December 2020

Deletion of the C4-CYP21 repeat module leading to the formation of a chimeric CYP21P/CYP21 gene in a 9.3-kb fragment as a cause of steroid 21-hydroxylase deficiency.

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Two distinct areas of unequal crossingover within the steroid 21-hydroxylase genes produce absence of CYP21B

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Structure and genetics of the partially duplicated gene RP located immediately upstream of the complement C4A and the C4B genes in the HLA class III region. Molecular cloning, exon-intron structure, composite retroposon, and breakpoint of gene dupli

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Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene

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Mechanism and consequences of the duplication of the human C4/P450c21/gene X locus

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How a patient homozygous for a 30-kb deletion of the C4-CYP 21 genomic region can have a nonclassic form of 21-hydroxylase deficiency

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12 December 2020

The complete exon-intron structure of a human complement component C4A gene. DNA sequences, polymorphism, and linkage to the 21-hydroxylase gene

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Mutation-haplotype analysis of steroid 21-hydroxylase (CYP21) deficiency in Finland. Implications for the population history of defective alleles.

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12 December 2020

Analysis of the chimeric CYP21P/CYP21 gene in steroid 21-hydroxylase deficiency

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12 December 2020

Difference in transcriptional activity of two homologous CYP21A genes

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12 December 2020

Structure of chi hotspots of generalized recombination

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Genesis by meiotic unequal crossover of a de novo deletion that contributes to steroid 21-hydroxylase deficiency

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Allele-dropout using PCR-based diagnosis for the splicing mutation in intron-2 of the CYP21B-gene: successful amplification with a Taq/Pwo-polymerase mixture

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Detection of steroid 21-hydroxylase alleles using gene-specific PCR and a multiplexed ligation detection reaction

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Four ubiquitously expressed genes, RD (D6S45)-SKI2W (SKIV2L)-DOM3Z-RP1 (D6S60E), are present between complement component genes factor B and C4 in the class III region of the HLA

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Gene conversions, deletions, and polymorphisms in congenital adrenal hyperplasia

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Molecular analysis of patient and carrier genes with congenital steroid 21-hydroxylase deficiency by using polymerase chain reaction and single strand conformation polymorphism

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Gene conversions and unequal crossovers between CYP21 (steroid 21-hydroxylase gene) and CYP21P involve different mechanisms

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Gene conversions and rearrangements cause discordance between inheritance of forms of 21-hydroxylase deficiency and HLA types

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Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by allele-specific hybridization and Southern blot

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Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: possible gene conversion products

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Congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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Comprehensive analytical strategy for mutation screening in 21-hydroxylase deficiency

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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 as

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12 December 2020

CYP21 and CYP21P variability in steroid 21-hydroxylase deficiency patients and in the general population in the Netherlands

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12 December 2020

Multiple transcripts of the CYP21 gene are generated by the mutation of the splicing donor site in intron 2 from GT to AT in 21-hydroxylase deficiency.

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12 December 2020

Genetic diagnosis of 21-hydroxylase deficiency: DGGE-based mutation scanning of CYP21

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12 December 2020

10.1007/S10038-003-0115-2

Identifiers

DOI

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9 August 2017

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PubMed ID

14730433