Li Cao

TL;DR: Exome capture coupled with massively parallel sequencing is used to search for metastasis-related mutations in highly metastatic uveal melanomas of the eye and implicate loss of BAP1 in uveAL melanoma metastasis and suggest that the BAP 1 pathway may be a valuable therapeutic target.

TL;DR: It is proposed that, after a triggering event that can include epidermal injury, rare gain-of-function mutations in CARD14 initiate a process that includes inflammatory cell recruitment by keratinocytes, which perpetuates a vicious cycle of epidersmal inflammation and regeneration, a cycle which is the hallmark of psoriasis.

TL;DR: Fifteen additional rare missense variants in CARD14 are described, their distribution in seven psoriasis cohorts, and their effects on NF-kB activation and the transcriptome of keratinocytes, to contribute to the understanding of the genetic basis of Psoriasis and illustrate the challenges faced in identifying pathogenic variants in common disease.

TL;DR: Two peaks of strong association with psoriasis on chromosome 17q25 separated by 6 Mb are described and suggest defective regulation of SLC9A3R1 or NAT9 by RUNX1 as a susceptibility factor for Psoriasis.

TL;DR: A genome-wide study of altered CpG methylation in psoriatic skin, finding sites with inverse correlations between methylation and nearby gene expression include those of KYNU, OAS2, S100A12, and SERPINB3, whose strong transcriptional up-regulation are important discriminators of psoriasis.