Kabuki syndrome (KS) is a rare developmental disorder principally comprised of
developmental delay, hypotonia and a clearly defined dysmorphism: elongation of the …

In zebrafish, the spatiotemporal development of the vascular system is well described due to
its stereotypical nature. However, the cellular and molecular mechanisms orchestrating post …

Epigenetic marks regulate the transcriptomic landscape by facilitating the structural packing
and unwinding of the genome, which is tightly folded inside the nucleus. Lysine-specific …

Craniofacial and limb defects are two of the most common congenital anomalies in the
general population. Interestingly, these defects are not mutually exclusive. Many patients …

Mutations in the NOTCH3 gene can lead to small-vessel disease in humans, including the
well-characterized cerebral autosomal dominant arteriopathy with subcortical infarcts and …

Cutaneous squamous cell carcinoma (cSCC) is the second most lethal skin cancer. Due to
ultraviolet light-induced damage, cSCCs have a high mutation rate, but some genes are …

Background Kabuki syndrome is a congenital developmental disorder that is characterized
by distinctive facial gestalt and skeletal abnormalities. Although rare, the disorder shares …

Chromatinopathies are defined as genetic disorders caused by mutations in genes coding
for protein involved in the chromatin state balance. So far 82 human conditions have been …

ABSTRACT Introduction Kabuki Syndrome (KS) is a rare genetic disorder characterized by
distinctive facial features, intellectual disability, and multiple congenital anomalies. It is …

Highly evolutionarily conserved multiprotein complexes termed Complex of Proteins
Associated with Set1 (COMPASS) are required for histone 3 lysine 4 (H3K4) methylation …