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 …

Notch 1 to 4 receptors are important determinants of cell fate and function, and Notch
signaling plays an important role in skeletal development and bone remodeling. After direct …

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 …

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

Heterozygous germline mutations of BMPR2 contribute to familial clustering of pulmonary
arterial hypertension (PAH). To further explore the genetic basis of PAH in isolated cases …

Rho GTPases play key regulatory roles in many aspects of embryonic development,
regulating processes such as differentiation, proliferation, morphogenesis, and migration …

The Adams–Oliver syndrome (AOS) is defined as aplasia cutis congenita (ACC) with
transverse terminal limb defects (TTLD). Frequencies of associated anomalies are not well …

Adams-Oliver syndrome (AOS) is defined by the combination of aplasia cutis congenita
(ACC) and terminal transverse limb defects (TTLD). It is usually inherited as an autosomal …

Background—Adams–Oliver syndrome (AOS) is a rare disorder characterized by congenital
limb defects and scalp cutis aplasia. In a proportion of cases, notable cardiac involvement is …

Adams-Oliver syndrome (AOS) is a rare, autosomal-dominant or-recessive disorder
characterized primarily by aplasia cutis congenita and terminal transverse limb defects …