Calvarial bone is one of the most complex sequences of developmental events in
embryology, featuring a uniquely transient, pluripotent stem cell-like population known as …

Mutations in core components of the spliceosome are responsible for a group of syndromes
collectively known as spliceosomopathies. Patients exhibit microcephaly, micrognathia …

Aims Fibrosis is associated with all forms of adult cardiac diseases including myocardial
infarction (MI). In response to MI, the heart undergoes ventricular remodelling that leads to …

Human genetic studies identified a strong association between loss of function mutations in
RBFOX2 and hypoplastic left heart syndrome (HLHS). There are currently no Rbfox2 mouse …

Hypertrophic cardiomyopathy (HCM) is a well-established risk factor for cardiovascular
mortality worldwide. Although hypertrophy is traditionally regarded as an adaptive response …

Rett syndrome (RTT) is a severe neurological disorder and a leading cause of intellectual
disability in young females. RTT is mainly caused by mutations found in the X-linked gene …

ABSTRACT The FaceBase Consortium was established by the National Institute of Dental
and Craniofacial Research in 2009 as a 'big data'resource for the craniofacial research …

Cleft palate (CP) is a congenital condition characterized by a complex etiology and limited
diagnostic and therapeutic options. In this study, we delved into the molecular mechanisms …

The BAF complex plays an important role in the development of a wide range of tissues by
modulating gene expression programs at the chromatin level. However, its role in neural …

Background Alternative splicing of pre‐mRNA is a fundamental regulatory process in
multicellular eukaryotes, significantly contributing to the diversification of the human …