The NOTCH gene was identified approximately 110 years ago. Classical studies have
revealed that NOTCH signaling is an evolutionarily conserved pathway. NOTCH receptors …

Notch signaling is an evolutionarily highly conserved signaling mechanism, but in contrast to
signaling pathways such as Wnt, Sonic Hedgehog, and BMP/TGF-β, Notch signaling occurs …

During embryonic development, epithelial cell blocks called somites are periodically formed
according to the segmentation clock, becoming the foundation for the segmental pattern of …

Some individuals with a particular disease-causing mutation or genotype fail to express
most if not all features of the disease in question, a phenomenon that is known as 'reduced …

The Notch signalling pathway is evolutionarily conserved and is crucial for the development
and homeostasis of most tissues. Deregulated Notch signalling leads to various diseases …

Segmentation of the paraxial mesoderm is a major event of vertebrate development that
establishes the metameric patterning of the body axis. This process involves the periodic …

Identifying genes and variants contributing to rare disease phenotypes and Mendelian
conditions informs biology and medicine, yet potential phenotypic consequences for …

Background Congenital scoliosis is a common type of vertebral malformation. Genetic
susceptibility has been implicated in congenital scoliosis. Methods We evaluated 161 Han …

Segmentation is a fundamental feature of the vertebrate body plan. This metameric
organization is first implemented by somitogenesis in the early embryo, when paired …

Notch signaling regulates a vast array of crucial developmental processes. It is therefore not
surprising that mutations in genes encoding Notch receptors or ligands lead to a variety of …