2013
DOI: 10.1093/rheumatology/ket119
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CD247 variants and single-nucleotide polymorphisms observed in systemic lupus erythematosus patients

Abstract: SLE is associated with a deficiency in cluster of differentiation 247 (CD247, also known as CD3 zeta chain), a component of the T-cell receptor (TCR)-CD3 complex. A comprehensive analysis showed that in more than half of SLE patients tested CD247 expression was either attenuated or absent. Recent evidence suggests that these variations in expression profiles may be due, at least in part, to polymorphisms in the CD247 gene. Aberrant CD247 transcript variants displaying either spliced exon 7 or short 3'-untransl… Show more

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Cited by 21 publications
(16 citation statements)
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“…Our findings are consistent with the increasingly recognized importance of splice variants in diseases; rheumatoid arthritis (22), nephropathy (23), and MS. From a diagnostic perspective, our findings highlight the importance of searching for combinations of different types of variables. For example, our analyses of large-scale GWAS of MS showed highly significant enrichment of disease-associated SNPs in the three TFs, which in combination were associated with disease severity.…”
Section: Discussionsupporting
confidence: 91%
See 1 more Smart Citation
“…Our findings are consistent with the increasingly recognized importance of splice variants in diseases; rheumatoid arthritis (22), nephropathy (23), and MS. From a diagnostic perspective, our findings highlight the importance of searching for combinations of different types of variables. For example, our analyses of large-scale GWAS of MS showed highly significant enrichment of disease-associated SNPs in the three TFs, which in combination were associated with disease severity.…”
Section: Discussionsupporting
confidence: 91%
“…Remarkably, such a study was recently started, with the aim is to follow one hundred thousand subjects for [20][21][22][23][24][25][26][27][28][29][30] years, and repeatedly analyze multiple potential diagnostic markers to predict disease (1). However, the identification of such markers is complicated by the involvement of thousands of genes in multiple cell types in different tissues and organs, which may change at different time points of the disease process.…”
Section: Introductionmentioning
confidence: 99%
“…About 65% of these proteins are involved in immune regulatory pathways, 61% take part in signal transduction pathways, 54% are involved in cancer regulation pathways, and 28% participate in all three pathways. These proteins reportedly play important roles in cell proliferation [29,30,31] and immunoregulation [30,32,33,34] and function as protein kinases (CDK1, PRKCB, ZAP70, BTK, MAP2K3, MAP3K5, BMP2K, etc. ), immunoregulators (IL-18, CD81, CD247, etc.…”
Section: Resultsmentioning
confidence: 99%
“…T-cell receptor zeta or CD247 plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. Impaired expression of CD247 results in impaired immune response and is associated with immunosuppression in T-cells (54). Our predictions list the gene encoding CD247 as a target for SARS-CoV-2 miRNAs, and the transcriptomics analysis by Xiong et al .…”
Section: Discussionmentioning
confidence: 99%