Structural basis of the polymorphism of human complement components C4A and C4B: gene size, reactivity and antigenicity.
about
Substitution of a single amino acid (aspartic acid for histidine) converts the functional activity of human complement C4B to C4AThe molecular biology, biochemistry, and physiology of human steroidogenesis and its disordersReal-time PCR quantification of human complement C4A and C4B genes.Early Components of the Complement Classical Activation Pathway in Human Systemic Autoimmune DiseasesA physical map linking the five CD1 human thymocyte differentiation antigen genesCovalent binding properties of the human complement protein C4 and hydrolysis rate of the internal thioester upon activationMolecular characterization of the HLA-linked steroid 21-hydroxylase B gene from an individual with congenital adrenal hyperplasiaDeficiencies 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.Determination of the loss of function complement C4 exon 29 CT insertion using a novel paralog-specific assay in healthy UK and Spanish populationsMajor histocompatibility complex class III genes and susceptibility to immunoglobulin A deficiency and common variable immunodeficiency.Copy number analysis of complement C4A, C4B and C4A silencing mutation by real-time quantitative polymerase chain reaction.Complement and systemic lupus erythematosus.Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European AGenetically determined partial complement C4 deficiency states are not independent risk factors for SLE in UK and Spanish populations.Role of MHC-linked susceptibility genes in the pathogenesis of human and murine lupus.Assessment of complement C4 gene copy number using the paralog ratio test.Multiallelic copy number variation in the complement component 4A (C4A) gene is associated with late-stage age-related macular degeneration (AMD).Increased frequency of complement C4B deficiency in rheumatoid arthritisGenetic sophistication of human complement components C4A and C4B and RP-C4-CYP21-TNX (RCCX) modules in the major histocompatibility complexPhenotypes, 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.Molecular basis of complete complement C4 deficiency in two North-African families with systemic lupus erythematosus.Effects of Complement C4 Gene Copy Number Variations, Size Dichotomy, and C4A Deficiency on Genetic Risk and Clinical Presentation of Systemic Lupus Erythematosus in East Asian Populations.Haplotypes of the steroid 21-hydroxylase gene region encoding mild steroid 21-hydroxylase deficiency.Association between C4, C4A, and C4B copy number variations and susceptibility to autoimmune diseases: a meta-analysis.Genetic basis of human complement C4A deficiency. Detection of a point mutation leading to nonexpression.Allelic associations of multiple RFLPs of the gene encoding complement protein C2.Gene copy-number variations (CNVs) of complement C4 and C4A deficiency in genetic risk and pathogenesis of juvenile dermatomyositis.The complement component C4 of mammals.Inhibition of the covalent binding reaction of complement component C4 by penicillamine, an anti-rheumatic agentMajor-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.The low C5 convertase activity of the C4A6 allotype of human complement component C4.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.Ubiquitin Specific Peptidase 15 (USP15) suppresses glioblastoma cell growth via stabilization of HECTD1 E3 ligase attenuating WNT pathway activity.Clinical features of patients with homozygous complement C4A or C4B deficiency.
P2860
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P2860
Structural basis of the polymorphism of human complement components C4A and C4B: gene size, reactivity and antigenicity.
description
1986 nî lūn-bûn
@nan
1986 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1986 թվականի նոյեմբերին 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
Structural basis of the polymo ...... e, reactivity and antigenicity
@nl
Structural basis of the polymo ...... , reactivity and antigenicity.
@ast
Structural basis of the polymo ...... , reactivity and antigenicity.
@en
Structural basis of the polymo ...... , reactivity and antigenicity.
@en-gb
type
label
Structural basis of the polymo ...... e, reactivity and antigenicity
@nl
Structural basis of the polymo ...... , reactivity and antigenicity.
@ast
Structural basis of the polymo ...... , reactivity and antigenicity.
@en
Structural basis of the polymo ...... , reactivity and antigenicity.
@en-gb
prefLabel
Structural basis of the polymo ...... e, reactivity and antigenicity
@nl
Structural basis of the polymo ...... , reactivity and antigenicity.
@ast
Structural basis of the polymo ...... , reactivity and antigenicity.
@en
Structural basis of the polymo ...... , reactivity and antigenicity.
@en-gb
P2093
P2860
P3181
P1433
P1476
Structural basis of the polymo ...... e, reactivity and antigenicity
@en
P2093
P2860
P304
P3181
P356
10.1002/J.1460-2075.1986.TB04582.X
P407
P577
1986-11-01T00:00:00Z