Drosophila RASopathy Models Identify Disease Subtype Differences and Biomarkers of Drug Efficacy

Abstract excerpt

RASopathies represent a family of mostly autosomal dominant diseases that are caused by missense variants in the RAS/MAPK pathway. In aggregate, they are among the more common Mendelian disorders. They share overlapping pathologies that include structural birth and developmental defects that affect the heart, craniofacial and skeletal, lymphatic, and nervous systems. Variants in different genes—including those enc...

Topics

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• Animals, Genetically Modified
• Developmental Disabilities
• Disease Models, Animal
• Genetic Engineering
• MAP Kinase Signaling System
• Models, Biological
• Mutation
• ras Proteins

Identifiers and source

Literature Corpus work

f88cb8de-cc8c-5201-94ce-c8b315c23312

DOI

10.1101/2020.10.30.362350