MAP2K2, Mitogen-Activated Protein Kinase Kinase 2; mTOR, Mechanistic Target of Rapamycin” appear below. Figure 3. Relationship network for the selected PI3K/AKT/mTOR pathway differentiation genes ...

aDepartment of Dermatology, Leiden University Medical Centre, Leiden, the Netherlands bDepartment of Pathology, University Medical Centre Utrecht, Utrecht, the Netherlands cDepartment of Pathology, ...

Cafe-au-lait maculae (CALM) are frequently observed in humans, and usually are present as a solitary spot. Multiple CALMs are present in a smaller fraction of the population and are usually associated ...

The same phenomenon has been described for two other genes belonging to the Ras/MAPK pathway: MAP2K2 and SHOC2. In conclusion, we here report genotype-phenotype correlations in patients with ...

It is caused by heterozygous mutations in the RAS/MAPK pathway genes BRAF, MAP2K1, MAP2K2, and KRAS. The cardiofaciocutaneous syndrome (CFCS) is inherited as an autosomal dominant trait.

This review provides an updated summary of the state of our knowledge of the genetic contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial American Heart ...

The corresponding mutated genes set that has common effects on hyperthyroidism in children included NOTCH3, MYH7, TSC2, STAT1, MED13L, MAP2K2, SLCO1C1, SLC16A2, and THRB. The second most significant ...

The study is overall well-planned and the amount of data presented by the authors is impressive. The work nicely incorporates animal-level physiology (echocardiography data), tests for known canonical ...