Syed H.E. Zaidi

TL;DR: This large-scale genomic analysis of colorectal cancer demonstrates that MSI-high cases frequently undergo an immunoediting process that provides them with genetic events allowing immune escape despite high mutational load and frequent lymphocytic infiltration and, furthermore, that coloreCTal cancer tumors have genetic and methylation events associated with activated WNT signaling and T-cell exclusion.

TL;DR: Genome-wide association analyses based on whole-genome sequencing and imputation identify 40 new risk variants for colorectal cancer, including a strongly protective low-frequency variant at CHD1 and loci implicating signaling and immune function in disease etiology.

TL;DR: Modulation of the severity of chronic hypoxia-induced pulmonary vascular disease could be a function of endogenously expressed serine elastase inhibitors.

TL;DR: Methylation levels at CpG sites are correlated with at least one distal (trans) single-nucleotide polymorphism (SNP) in a panel of lymphocytes from 1,748 individuals, and long-range epigenetic networks uncovered by this approach may be relevant to normal and disease states.

TL;DR: The reduced β4GalT-7 activity resulting in defective glycosylation of decorin and biglycan may be responsible for the complex molecular pathology in β4 galactosyltransferase deficient EDS patients, given the role of these proteoglycans in bone formation, collagen fibrillogenesis, and skeletal muscle development.