(Q33906196)

English

Deficiencies 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

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Europe PubMed Central

PubMed publication ID

29 July 2017

Deficiencies 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 (English)

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

genetic diversity

1 reference

based on heuristic

inferred from title

1 reference

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author name string

C A Blanchong

1

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

B Zhou

2

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

K L Rupert

3

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

E K Chung

4

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

K N Jones

5

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

J F Sotos

6

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

W B Zipf

7

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

R M Rennebohm

8

1 reference

Europe PubMed Central

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29 July 2017

C Yung Yu

9

1 reference

Europe PubMed Central

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29 July 2017

language of work or name

0 references

publication date

1 June 2000

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Journal of Experimental Medicine

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

191

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

12

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

2183-2196

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2193198

5 July 2018

Genomics of the major histocompatibility complex: haplotypes, duplication, retroviruses and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2193198

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2193198

5 July 2018

Reference typing report for complement component C4.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2193198

5 July 2018

Molecular genetics of the human MHC complement gene cluster

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2193198

5 July 2018

Genetic basis of human complement C4A deficiency. Detection of a point mutation leading to nonexpression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2193198

5 July 2018

MHC polymorphism and human origins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2193198

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2193198

5 July 2018

Identification of a novel family of human endogenous retroviruses and characterization of one family member, HERV-K(C4), located in the complement C4 gene cluster.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2193198

5 July 2018

Length polymorphism of the human complement component C4 gene is due to an ancient retroviral integration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2193198

5 July 2018

The dichotomous size variation of human complement C4 genes is mediated by a novel family of endogenous retroviruses, which also establishes species-specific genomic patterns among Old World primates

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2193198

5 July 2018

Inherited structural polymorphism of the fourth component of human complement

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2193198

5 July 2018

The molecular basis for the difference in immune hemolysis activity of the Chido and Rodgers isotypes 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=2193198

5 July 2018

A molecular map of the human major histocompatibility complex class III region linking complement genes C4, C2 and factor B

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2193198

5 July 2018

Extended HLA/complement allele haplotypes: evidence for T/t-like complex in man.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2193198

5 July 2018

Family study of the major histocompatibility complex in patients with systemic lupus erythematosus: importance of null alleles of C4A and C4B in determining disease susceptibility

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2193198

5 July 2018

A comparison of the properties of two classes, C4A and C4B, of the 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=2193198

5 July 2018

A molecular basis for the two locus model 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=2193198

5 July 2018

Structure and organization of theC4genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2193198

5 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=2193198

5 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=2193198

5 July 2018

Phenotyping of human complement component C4, a class-III HLA antigen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2193198

5 July 2018

Molecular characterization of the HLA-linked steroid 21-hydroxylase B gene from an individual with congenital adrenal hyperplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2193198

5 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=2193198

5 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=2193198

5 July 2018

A structural model for the location of the Rodgers and the Chido antigenic determinants and their correlation with the human complement component C4A/C4B isotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2193198

5 July 2018

Definitive RFLPs to distinguish between the human complement C4A/C4B isotypes and the major Rodgers/Chido determinants: application to the study of C4 null alleles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2193198

5 July 2018

Structural basis of the polymorphism of human complement components C4A and C4B: gene size, reactivity and antigenicity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2193198

5 July 2018

Substitution of a single amino acid (aspartic acid for histidine) converts the functional activity of human complement C4B to C4A

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2193198

5 July 2018

Null alleles of human complement C4. Evidence for pseudogenes at the C4A locus and for gene conversion at the C4B locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2193198

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2193198

5 July 2018

Quantitation of the human component C4: definition of C4 Q0 alleles and C4A duplications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2193198

5 July 2018

Two HLA-linked loci controlling the fourth component of human complement

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2193198

5 July 2018

The reaction mechanism of the internal thioester in the human complement component C4.

1 reference

https://api.crossref.org/works/10.1084%2FJEM.191.12.2183

21 January 2018

An unequal crossover between the RCCX modules of the human MHC leading to the presence of a CYP21B gene and a tenascin TNXB/TNXA-RP2 recombinant between C4A and C4B genes in a patient with juvenile rheumatoid arthritis

1 reference

https://api.crossref.org/works/10.1084%2FJEM.191.12.2183

21 January 2018

Deficiency of human complement protein C4 due to identical frameshift mutations in the C4A and C4B genes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2193198

29 October 2018

The purification and properties of some less common allotypes of the fourth component of human complement

1 reference

https://pubmed.ncbi.nlm.nih.gov/10859342

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complement allotyping in SLE: association with C4A null

1 reference

https://pubmed.ncbi.nlm.nih.gov/10859342

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Complement polymorphism, the major histocompatibility complex and associated diseases: a speculation

1 reference

https://pubmed.ncbi.nlm.nih.gov/10859342

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/10859342

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Quantitation of human C4A and C4B, in serum and plasma by enzyme-linked immunoadsorbent assay

1 reference

https://pubmed.ncbi.nlm.nih.gov/10859342

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Antigenic determinants expressed by human C4 allotypes; a study of 325 families provides evidence for the structural antigenic model

1 reference

https://pubmed.ncbi.nlm.nih.gov/10859342

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Differences between C4A and C4B in the handling of immune complexes: the enhancement of CR1 binding is more important than the inhibition of immunoprecipitation

1 reference

https://pubmed.ncbi.nlm.nih.gov/10859342

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel immunoassay for the quantitation of human C4 gene products

1 reference

https://pubmed.ncbi.nlm.nih.gov/10859342

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Component deficiencies. 2. The fourth component

1 reference

https://pubmed.ncbi.nlm.nih.gov/10859342

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Relationship between protein complotypes and DNA variant haplotypes: complotype-RFLP constellations (CRC)

1 reference

https://pubmed.ncbi.nlm.nih.gov/10859342

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1084/JEM.191.12.2183

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

release_3ajleuya6zbelonjhtrrtkbd34

1 reference

https://api.fatcat.wiki/v0/release/3ajleuya6zbelonjhtrrtkbd34

24 November 2022

based on heuristic

mapped directly with Wikidata item

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

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