Alternative splicing contributes to the majority of protein diversity in higher eukaryotes by
allowing one gene to generate multiple distinct protein isoforms. It adds another regulation …

The neural crest (NC) is a transient, multipotent and migratory cell population that generates
an astonishingly diverse array of cell types during vertebrate development. These cells …

Precursor messenger RNA (pre-mRNA) splicing is catalyzed by an intricate
ribonucleoprotein complex called the spliceosome. Although the spliceosome is considered …

Craniofacial microsomia (CFM) is the second most common congenital facial anomaly, yet
its genetic etiology remains unknown. We perform whole-exome or genome sequencing of …

Inherited monogenic disease has an enormous impact on the well-being of children and
their families. Over half of the children living with one of these conditions are without a …

Recent advances in high‐throughput sequencing technologies have unexpectedly revealed
that somatic mutations of splicing factor genes frequently occurred in several types of …

Osteogenesis imperfecta (OI) is a heritable disorder that ranges in severity from death in the
perinatal period to an increased lifetime risk of fracture. Mutations in COL1A1 and COL1A2 …

Traditional approaches for gene map** from candidate gene studies to positional cloning
strategies have been applied for Mendelian disorders. Since 2005, next-generation …

The SF3b complex is an intrinsic component of the functional U2 small nuclear
ribonucleoprotein (snRNP). As U2 snRNP enters nuclear pre-mRNA splicing, SF3b plays …

RNA-binding proteins (RBPs) are effectors and regulators of posttranscriptional gene
regulation (PTGR). RBPs regulate stability, maturation, and turnover of all RNAs, often …