The Human Genome Project was an enormous accomplishment, providing a foundation for
countless explorations into the genetics and genomics of the human species. Yet for many …

In this comprehensive review, we will dissect the impact of research on proteoglycans
focusing on recent developments involved in their synthesis, degradation, and interactions …

Genetic variation that influences gene expression and splicing is a key source of phenotypic
diversity,,,–. Although invaluable, studies investigating these links in humans have been …

Nervous system development is associated with extensive regulation of alternative splicing
(AS) and alternative polyadenylation (APA). AS and APA have been extensively studied in …

Single-cell technologies have transformed biomedical research over the last decade,
opening up new possibilities for understanding cellular heterogeneity, both at the genomic …

Alternative splicing (AS) alters the cis-regulatory landscape of mRNA isoforms, leading to
transcripts with distinct localization, stability, and translational efficiency. To rigorously …

RNA abundance quantification has become routine and affordable thanks to high-
throughput “short-read” technologies that provide accurate molecule counts at the gene …

The expression of a precise mRNA transcriptome is crucial for establishing cell identity and
function, with dozens of alternative isoforms produced for a single gene sequence. The …

Background: Episodic ataxias are rare neurological disorders characterized by recurring
episodes of imbalance and coordination difficulties. Obtaining definitive molecular …

The development of multicellular organisms occurs through a series of cell state transitions
controlled by gene regulatory networks. Central to these networks are transcription factors …