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 ...
RASopathies include disorders generally characterized by developmental delay, specific heart defects, short stature, cardiac hypertrophy, and facial dysmorphisms. Next-generation sequencing ...
A 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 ...
The RAS pathway is a cellular signaling pathway that regulates growth and development in humans. RASopathies are a group of diseases characterized by defects in RAS signaling. Many patients with ...
Standardized and accurate variant assessment is essential for effective medical care. To that end, Clinical Genome (ClinGen) Resource clinical domain working groups (CDWGs) are systematically ...
Research teams have made progress in the study of a group of common genetic diseases termed RASopathies because they are caused by mutations in genes that are in the RAS pathway. Two research papers ...
As many as 1 in 1,000 people are affected by RASopathies, according to scientists. Onconova is planning a sideways step for its lead cancer drug rigosertib—with help from a research consortium—that ...
Some results have been hidden because they may be inaccessible to you
Show inaccessible results