When the NF1 gene was discovered in 1990, it was quickly learned that the gene product functions as a regulator of a protein called Ras. Ras is a key component of a cell signaling pathway that ...

Surprisingly high fraction of infertile men presenting congenital testicular maldescent, cryptorchidism, were revealed as undiagnosed cases of congenital RASopathy syndromes, as stated in a recent ...

Trametinib, a mitogen-activated protein kinase (MEK) inhibitor, reduces mortality and morbidity in children with severe hypertrophic cardiomyopathy (HCM) caused by pathogenic variants in the RAS/MAPK ...