RASopathies include disorders generally characterized by developmental delay, specific heart defects, short stature, cardiac hypertrophy, and facial dysmorphisms. Next-generation sequencing ...
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 ...
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 ...
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 ...
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 ...
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 ...
Trametinib is a mitogen-activated protein kinase (MEK) inhibitor and the research findings are published in JACC: Basic to Translational Science highlights the urgent medical assistance for children ...
Some results have been hidden because they may be inaccessible to you
Show inaccessible results
Feedback