The RASopathies are a group of developmental syndromes caused by germline mutations in genes belonging to the Ras/MAPK pathway. Common features include intellectual disability, congenital heart defects, skin abnormalities, and craniofacial abnormalities.
The RASopathies are a group of developmental syndromes caused by germline mutations in genes belonging to the Ras/MAPK pathway. Common features include intellectual disability, congenital heart defects, skin abnormalities, and craniofacial abnormalities.
== MAPK pathway == The most prevalent signaling cascade governed by multi-kinase inhibitors is the mitogen-activated protein kinase (MAPK) pathway. This well-established MAPK pathway in cell biology governs several crucial cellular. It encompasses the RAS/RAF/MEK/ERK signaling cascade. RAF kinase is a primary mediator of the MAPK pathway, responsible for the sequential activation of downstream targets, such as MEK pathway and the transcription factor extracellular signal-related kinase (ERK), which control numerous cellular and physiological processes, including organism development, cell cycle control, cell proliferation, differentiation, migration, survival, apoptosis and cell death. With this cascade, various isoforms of RAS, RAF, MEK, and ERK exhibit differences in efficacy, function, and, notably, carcinogenic potential. Defects in this signaling cascade are associated with diseases. The pathophysiology of NF1, Noonan, Watson and Legius syndromes fit into the RASopathy model. The RASopathies are a group of developmental syndromes caused by germline mutations in genes belonging to the Ras/MAPK pathway. Costello Syndrome and Cardiofaciocutaneous syndrome are also included in RASopathy. Common features include intellectual disability, congenital heart defects, skin abnormalities, craniofacial abnormalities and tendency for tumor formation.
Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).