Genetic analysis of complement C1s deficiency associated with systemic lupus erythematosus highlights alternative splicing of normal C1s gene

2008 ◽  
Vol 45 (6) ◽  
pp. 1693-1702 ◽  
Author(s):  
Mariane T. Amano ◽  
Virgínia P.L. Ferriani ◽  
Marlene P.C. Florido ◽  
Edimara S. Reis ◽  
Maria I.M.V. Delcolli ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Alternative Splicing ◽  
Genetic Analysis ◽  
Lupus Erythematosus ◽  
Systemic Lupus

Genetic analysis of the cytochrome P450 CYP2D6 polymorphism in patients with systemic lupus erythematosus

1998 ◽  
Vol 8 (3) ◽  
pp. 191???194 ◽  
Author(s):  
N. Sabbagh ◽  
D. Marez ◽  
V. Queyrel ◽  
J-M. Lo Guidice ◽  
C. Spire ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Cytochrome P450 ◽  
Genetic Analysis ◽  
Lupus Erythematosus ◽  
Systemic Lupus ◽  
Cyp2d6 Polymorphism

scholarly journals GENETIC ANALYSIS OF TAP2 IN SYSTEMIC LUPUS ERYTHEMATOSUS PATIENTS FROM TWO ETHNIC GROUPS

Rheumatology ◽  
1996 ◽  
Vol 35 (6) ◽  
pp. 529-533 ◽  
Author(s):  
L. ÖCAL ◽  
K. RUSSELL ◽  
H. BEYNON ◽  
K. CRUICKSHANK ◽  
J. S. LANCHBURY ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Genetic Analysis ◽  
Ethnic Groups ◽  
Lupus Erythematosus ◽  
Systemic Lupus

scholarly journals Complement receptor 2 polymorphisms associated with systemic lupus erythematosus modulate alternative splicing

2009 ◽  
Vol 10 (5) ◽  
pp. 457-469 ◽  
Author(s):  
K B Douglas ◽  
D C Windels ◽  
J Zhao ◽  
A V Gadeliya ◽  
H Wu ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Alternative Splicing ◽  
Lupus Erythematosus ◽  
Complement Receptor ◽  
Systemic Lupus ◽  
Complement Receptor 2

scholarly journals Extensive Changes in Transcription Dynamics Reflected on Alternative Splicing Events in Systemic Lupus Erythematosus Patients

Genes ◽  
2021 ◽  
Vol 12 (8) ◽  
pp. 1260
Author(s):  
Sofia Papanikolaou ◽  
George K. Bertsias ◽  
Christoforos Nikolaou
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Alternative Splicing ◽  
Lupus Erythematosus ◽  
Rna Splicing ◽  
Intron Retention ◽  
Mrna Translation ◽  
Sequencing Data ◽  
Systemic Lupus ◽  
Alternative Splicing Events ◽  
Transcriptional Output

In addition to increasing the complexity of the transcriptional output, alternative RNA splicing can lead to the reduction of mRNA translation or the production of non-functional or malfunctional proteins, thus representing a vital component of the gene regulation process. Herein, we set out to detect and characterize alternative splicing events that occur in whole-blood samples of patients with Systemic Lupus Erythematosus (SLE) as compared to healthy counterparts. Through the implementation of a computational pipeline on published RNA-sequencing data, we identified extensive changes in the transcription dynamics affecting a large number of genes. We found a predominance of intron retention events, with the majority introducing premature stop codons, suggestive of gene repression, in both inactive and active SLE patient samples. Alternative splicing affected a distinct set of genes from the ones detected as differentially expressed in the same comparisons, while alternatively spliced genes tended to reside in genome areas associated with increased gene co-expression. Functional analysis of genes affected by alternative splicing pointed towards particular functions related to metabolism and histone acetylation as of potential interest. Together, our findings underline the importance of incorporating alternative splicing analyses in the context of molecular characterization of complex diseases such as SLE.

C1s deficiency associated with systemic lupus erythematosus highlights alternative splicing of normal C1s gene

2007 ◽  
Vol 44 (16) ◽  
pp. 3961-3962
Author(s):  
Mariane T. Amano ◽  
Virgínia P.L. Ferriani ◽  
Marlene P.C. Florido ◽  
Edimara S. Reis ◽  
Chuck Shaker Farah ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Alternative Splicing ◽  
Lupus Erythematosus ◽  
Systemic Lupus

scholarly journals Genetic analysis of CR1 expression on erythrocytes of patients with systemic lupus erythematosus

1989 ◽  
Vol 32 (4) ◽  
pp. 393-397 ◽  
Author(s):  
Jacques H. M. Cohen ◽  
Valérie Caudwell ◽  
Matthieu Levi-Strauss ◽  
Pierre Bourgeois ◽  
Michel D. Kazatchkine
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Genetic Analysis ◽  
Lupus Erythematosus ◽  
Systemic Lupus

scholarly journals Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus

2014 ◽  
Vol 16 (1) ◽  
pp. 15-23 ◽  
Author(s):  
S N Kariuki ◽  
Y Ghodke-Puranik ◽  
J M Dorschner ◽  
B S Chrabot ◽  
J A Kelly ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Genetic Analysis ◽  
Interferon Alpha ◽  
Lupus Erythematosus ◽  
Systemic Lupus
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