Anshika Srivastava

TL;DR: IFN-κ is identified as a critical IFN in CLE pathology via promotion of enhanced IFN responses and photosensitivity and is a potential novel target for UVB prophylaxis and CLE-directed therapy.

TL;DR: It is found that ASXL3 interacts with BAP1, a hydrolase that removes mono-ubiquitin from histone H2A lysine 119 (H2AK119Ub1) as a component of the Polycomb repressive deUBiquitination (PR-DUB) complex, which suggests an important role for dynamic regulation of H1A mono-ubsin in transcriptional regulation and the pathophysiology of BRS.

TL;DR: In silico functional analyses and structural modeling of the protein predict the identified ISCA1 variant to be detrimental to protein stability and function, similar to that previously described in all four types of MMDS.

TL;DR: The results demonstrate that the phenotypic features of CHARGE syndrome overlap with multiple other rare single-gene syndromes and implicate a shared molecular pathology that disrupts epigenetic regulation of multiple-organ development.

TL;DR: It is concluded that mutations affecting RERE result in a spectrum of clinical phenotypes and Genotype–phenotype correlations exist and can be used to guide medical decision making.