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 (Q34566341)

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English	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	scientific article

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

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 (English)

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

congenital disorder

0 references

author name string

Y Morel

1

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

J André

2

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

B Uring-Lambert

3

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

G Hauptmann

4

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

H Bétuel

5

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

M Tossi

6

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

M G Forest

7

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

M David

8

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

J Bertrand

9

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

W L Miller

10

1 reference

Europe PubMed Central

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3 August 2017

language of work or name

0 references

publication date

1 February 1989

1 reference

Europe PubMed Central

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3 August 2017

Journal of Clinical Investigation

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PubMed publication ID

3 August 2017

83

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

527-536

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

The structural basis of the multiple forms of human complement component C4.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

Liver mRNA probes disclose two cytochrome P-450 genes duplicated in tandem with the complement C4 loci of the mouse H-2S region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

The P450 gene superfamily: recommended nomenclature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

Gene conversion-like events cause steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

P450XXI (steroid 21-hydroxylase) gene deletions are not found in family studies of congenital adrenal hyperplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

Frequent deletion and duplication of the steroid 21-hydroxylase genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

Structure of human steroid 21-hydroxylase genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

Deletion of the steroid 21-hydroxylase and complement C4 genes in congenital adrenal hyperplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

Structure of a bovine gene for P-450c21 (steroid 21-hydroxylase) defines a novel cytochrome P-450 gene family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

Molecular and clinical advances in congenital adrenal hyperplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

Gene conversions, deletions, and polymorphisms in congenital adrenal hyperplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

Characterization of frequent deletions causing steroid 21-hydroxylase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

Mutation in the CYP21B gene (Ile-172----Asn) causes steroid 21-hydroxylase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

Molecular mapping of the human major histocompatibility complex by pulsed-field gel electrophoresis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

Molecular biology of steroid hormone synthesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

Prevalence of polymorphic 21-hydroxylase gene (CA21HB) mutations in salt-losing congenital adrenal hyperplasia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

Polymorphism of the human complement C4 and steroid 21-hydroxylase genes. Restriction fragment length polymorphisms revealing structural deletions, homoduplications, and size variants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

Deletion of complement C4 and steroid 21-hydroxylase genes in the HLA class III region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

Genetic differences between the salt-wasting, simple virilizing, and nonclassical types of congenital adrenal hyperplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

Synteny mapping of the genes for 21 steroid hydroxylase, alpha A crystallin, and class I bovine leukocyte antigen in cattle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

Coupling of HLA-A3,Cw6,Bw47,DR7 and a normal CA21HB steroid 21-hydroxylase gene in the Old Order Amish

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

The organization, expression, and evolution of antibody genes and other multigene families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

Close genetic linkage between HLA and congenital adrenal hyperplasia (21-hydroxylase deficiency).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

7 July 2018

Homology and concerted evolution at the alpha 1 and alpha 2 loci of human alpha-globin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=303711

27 October 2018

Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/2913051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The study of a French family with two duplicated C4A haplotypes

1 reference

https://pubmed.ncbi.nlm.nih.gov/2913051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular genetic analysis of nonclassic steroid 21-hydroxylase deficiency associated with HLA-B14,DR1

1 reference

https://pubmed.ncbi.nlm.nih.gov/2913051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gene organization of haplotypes expressing two different C4A allotypes

1 reference

https://pubmed.ncbi.nlm.nih.gov/2913051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prenatal diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency by steroid analysis in the amniotic fluid of mid-pregnancy: comparison with HLA typing in 17 pregnancies at risk for CAH

1 reference

https://pubmed.ncbi.nlm.nih.gov/2913051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A possible new HLA-DR allele

1 reference

https://pubmed.ncbi.nlm.nih.gov/2913051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rearrangement of 21-hydroxylase genes in disease-associated MHC supratypes

1 reference

https://pubmed.ncbi.nlm.nih.gov/2913051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gene conversion in salt-losing congenital adrenal hyperplasia with absent complement C4B protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/2913051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Associations between restriction fragment length polymorphisms detected with a probe for human 21-hydroxylase (21-OH) and two clinical forms of 21-OH deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/2913051

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI113914

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

3 August 2017

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