Modulation of sporadic colorectal cancer risk by polymorphisms and haplotypes of mismatch repair genes
Poster Oct 14, 2008
A role of mismatch repair (MMR) in modulating colorectal cancer (CRC) was assessed by genotyping single nucleotide polymorphisms in five MMR genes in hospital-based case- control study. The TAG haplotype in hMSH6 (-556G>T-Ex1-145G>-IVS4-101G>C) decreased a risk of CRC and the GGG haplotype increased a risk of rectal cancer. Although no significant association was found for individual MMR polymorphisms, the hMSH6 haplotypes may modulate the risk of CRC in this population.
Inhibition of The Auto-inflammation Suppressor Protein ISG15 Triggers Preeclampsia by Blocking Trophoblast Migration and InvasionPoster
In summary, ISG15 expression levels are crucial for trophoblast morphology and function (migration/invasion). By blocking trophoblast invasion, reduced ISG15 levels could contribute to impaired spiral artery transformation that reduces utero-placental blood flow in preeclampsia. Thus, agents inducing ISG15 expression are likely to be therapeutic in preeclampsia.
An Emerging Phenotype of Partial RAG 1/2 Deficiency Among Young Children with Autoimmunity and Viral InfectionsPoster
We describe the natural history of a cohort of 12 patients with confirmed partial RAG1/2 mutations and autoimmunity at a young age. We were seeking the link between viral infections and autoimmunity and tested candidate biomarkers that may reflect the underlying RAG1/2 protein deficiency.READ MORE
Complete alignment identification of CRISPR-Cas9 genomic off-targets using Edit-R CRISPR specificity tool and a comprehensive analysis of positional mismatch tolerancePoster
A web tool that performs complete crRNA specificity checking is introduced. In addition, we evaluated positional off-targeting of the CRISPR system.READ MORE