Guangqing Sun

TL;DR: The results suggest that more caution should be exercised in genomic medicine settings when analyzing individual genomes, including interpreting positive and negative findings with scrutiny, especially for indels.

TL;DR: It is suggested that mevalonate kinase gene has a role in regulating calcium-induced keratinocyte differentiation and could protect keratinocytes from apoptosis induced by type A ultraviolet radiation and could help advance the understanding of DSAP pathogenesis.

TL;DR: The study suggested the potential associations of genetic defects in genes that are epigenetic regulators with spermatogenic failure in human by identifying individual genes showing nominal associations and testing the genetic burden of a given biological process as a whole.

TL;DR: The results suggest that EPS8L3 is a causative gene for MUHH, which was helpful for advancing us on understanding of the pathogenesis of MUHH and has further demonstrated the effectiveness of combining exome sequencing with linkage information for identifying Mendelian disease genes.

TL;DR: HLA-DRB1 and CD2AP gene were identified to be among the susceptibility genes of KBD, thus supporting the role of the autoimmune response in KBD and the possibility of shared etiology between osteoarthritis, rheumatoid arthritis, and KBD.