Kaia Mattioli

Widespread variation in molecular interactions and regulatory properties among transcription factor isoforms

The paper identifies two categories of transcription factor isoforms with distinct molecular functions and shows they contribute to gene regulatory complexity.

Whole genome sequencing delineates regulatory and novel genic variants in childhood cardiomyopathy

This study uses whole-genome sequencing to identify regulatory and novel genic variants contributing to childhood cardiomyopathy.

Genome-wide CRISPR interference screen identifies long non-coding RNA loci required for differentiation and pluripotency

The paper uses CRISPR interference to identify lncRNA loci critical for differentiation and pluripotency in human embryonic stem cells.

Resolving mechanisms of immune-mediated disease in primary CD4 T cells

The paper identifies a causal variant in a super-enhancer that disrupts an NF-κB regulatory circuit, leading to T-cell activation in immune-mediated diseases.

Analysis of regulatory element evolution between human and mouse reveals a lack of cis-trans compensation

The paper measures cis and trans effects on regulatory elements between human and mouse to show cis-trans compensation is uncommon within individual elements.

High-throughput functional analysis of lncRNA core promoters elucidates rules governing tissue-specificity

The paper uses computational methods and MPRA to analyze lncRNA and mRNA promoters, finding that divergent promoters have higher transcriptional activity and lower tissue-specificity, while lincRNAs and eRNAs are more tissue-specific with simpler TF motif profiles.

Chromatin environment, transcriptional regulation, and splicing distinguish lincRNAs and mRNAs

The paper identifies differences in chromatin environment, transcriptional regulation, and splicing between lincRNAs and mRNAs in human cell lines.