scholarly journals Genetic susceptibility to lupus: the biological basis of genetic risk found in B cell signaling pathways

2012 ◽  
Vol 92 (3) ◽  
pp. 577-591 ◽  
Author(s):  
Samuel E. Vaughn ◽  
Leah C. Kottyan ◽  
Melissa E. Munroe ◽  
John B. Harley
2019 ◽  
Vol 12 (567) ◽  
pp. eaat4105 ◽  
Author(s):  
Makhdum Ahmed ◽  
Elizabeth Lorence ◽  
Jeffrey Wang ◽  
Dayoung Jung ◽  
Liang Zhang ◽  
...  

Mantle cell lymphoma (MCL) is an aggressive B cell lymphoma that is largely chemoresistant. Ibrutinib, a drug that inhibits Bruton’s tyrosine kinase (BTK), has improved the overall survival of patients with MCL; however, resistance to ibrutinib has emerged as a decisive, negative factor in the prognosis of MCL. Adopting a more patient-centric therapeutic approach that incorporates applied genomics and interrogation of B cell signaling pathways may offer an alternative route to reach durable remission in patients with MCL. Although targeting genetic variants in MCL is not yet feasible in the clinical setting, the identification and targeting of increasingly active B cell signaling pathways may be a viable therapeutic strategy that may improve patient outcomes. Genome-editing tools and sequencing platforms could play dominant roles in patient-centric approaches of treatment in the future, potentially improving clinical outcomes for patients with MCL.


2019 ◽  
Author(s):  
Tinghua Huang ◽  
Min Yang ◽  
Kaihui Dong ◽  
Mingjiang Xu ◽  
Jinhui Liu ◽  
...  

Abstract Background: Gene expression regulators identified in transcriptome profiling experiment may be selected as targets for genetic manipulations in farm animals. Results: In this study, we developed a gene expression profile of 76,000+ unique transcripts for 224 porcine samples from 28 normal tissues collected from 32 animals using Super deepSAGE technology. Excellent sequencing depth has been achieved for each multiplexed library, and replicated samples from the same tissues cluster together, demonstrating the high quality of the Super deepSAGE data. Comparison with previous research indicated that our results not only have excellent reproducibility but also have greatly extended the coverage of the sample types as well as the number of genes. Clustering analysis discovered ten groups of genes showing distinct expression patterns among those samples. Binding motif over representative analysis identified 41 regulators and finally, we demonstrate a potential application of this dataset to infectious and immune research by identifying an LPS-dependent transcription factor, runt-related transcription factor 1 (RUNX1), in peripheral blood mononuclear cells (PBMCs). The selected genes are specifically responsible for the transcription of toll-like receptor 2 (TLR2), lymphocyte-specific protein tyrosine kinase (LCK), and vav1 oncogene (VAV1), which belong to the T and B cell signaling pathways. Conclusions: the Super deepSAGE technology and tissue specific expression profiles are valuable resources for investigating the porcine gene expression regulations. The identified RUNX1 target genes belong to the T and B cell signaling pathways, making it a potential novel targets for the diagnostic and therapy of bacterial infections and other immune disorders.


2021 ◽  
Vol 160 ◽  
pp. 103277
Author(s):  
Ana Carolina B. da C. Rodrigues ◽  
Rafaela G.A. Costa ◽  
Suellen L.R. Silva ◽  
Ingrid R.S.B. Dias ◽  
Rosane B. Dias ◽  
...  

Sign in / Sign up

Export Citation Format

Share Document