Article
A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development.
American journal of medical genetics. Part A - 1 Sept 2012
Gripp Karen W, Bifeld Eugenia, Stabley Deborah L, Hopkins Elizabeth, Meien Stefanie, Vinette Kathy, Sol-Church Katia, Rosenberger Georg
Abstract excerpt
Costello syndrome is caused by HRAS germline mutations affecting Gly(12) or Gly(13) in >90% of cases and these are associated with a relatively homogeneous phenotype. Rarer mutations in other HRAS codons were reported in patients with an attenuated or mild phenotype. Disease-associated HRAS missense mutations result in constitutive HRAS activation and increased RAF-MEK-ERK and PI3K-AKT signal flow. Here we report...
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