Article
Mutation of Prkar1a causes osteoblast neoplasia driven by dysregulation of protein kinase A.
Molecular endocrinology (Baltimore, Md.) - 1 Feb 2008
Pavel Emilia, Nadella Kiran, Towns William H, Kirschner Lawrence S
Abstract excerpt
Carney complex (CNC) is an autosomal dominant neoplasia syndrome caused by inactivating mutations in PRKAR1A, the gene encoding the type 1A regulatory subunit of protein kinase A (PKA). This genetic defect induces skin pigmentation, endocrine tumors, myxomas, and schwannomas. Some patients with the complex also develop myxoid bone tumors termed osteochondromyxomas. To study the link between the PRKAR1A mutations...
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