Small GTPases use GDP/GTP alternation to actuate a variety of functional switches that are
pivotal for cell dynamics. The GTPase switch is turned on by GEFs, which stimulate …

Next generation sequencing can be used to search for Mendelian disease genes in an
unbiased manner by sequencing the entire protein-coding sequence, known as the exome …

Angiopoietin-like proteins (ANGPTLs) play major roles in the trafficking and metabolism of
lipids. Inactivation of ANGPTL3, a gene located in an intron of DOCK7, results in very low …

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 …

Retinal dystrophy (RD) is a heterogeneous group of hereditary diseases caused by loss of
photoreceptor function and contributes significantly to the etiology of blindness globally but …

Dock family proteins are evolutionary conserved exchange factors for the Rho GTPases Rac
and Cdc42. There are 11 Dock proteins in mammals, named Dock1 (or Dock180) to Dock11 …

Notch signaling determines and reinforces cell fate in bilaterally symmetric multicellular
eukaryotes. Despite the involvement of Notch in many key developmental systems, human …

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

Studies over the past two decades have led to major advances in the pathogenesis of
Paget's disease of bone (PDB) and particularly on the role of genetic factors. Germline …

Very-long-chain fatty acids (VLCFAs) play important roles in membrane structure and
cellular signaling, and their contribution to human health is increasingly recognized. Fatty …