The neurofibromatosis type 1 (NF1) research community has identified the NF1 gene and has developed mouse models of plexiform neurofibroma, optic pathway glioma, malignant peripheral nerve sheath ...
Patients with clinical features suggestive of either NS, NSML, CFC, NF1, Legius syndrome or Noonan-like syndrome; patients with a clinical diagnosis of any of these syndromes that previously tested ...
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 ...
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 ...
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 ...
Onconova is planning a sideways step for its lead cancer drug rigosertib—with help from a research consortium—that could open up new opportunities in rare diseases. The new collaboration focuses on ...
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