Article
Haploinsufficiency for either one of the type-II regulatory subunits of protein kinase A improves the bone phenotype of Prkar1a+/- mice.
Human molecular genetics - 1 Nov 2015
Liu Sisi, Saloustros Emmanouil, Mertz Edward L, Tsang Kitman, Starost Matthew F, Salpea Paraskevi, Faucz Fabio R, Szarek Eva, Nesterova Maria, Leikin Sergey, Stratakis Constantine A
Abstract excerpt
Carney Complex (CNC), a human genetic syndrome predisposing to multiple neoplasias, is associated with bone lesions such as osteochondromyxomas (OMX). The most frequent cause for CNC is PRKAR1A deficiency; PRKAR1A codes for type-I regulatory subunit of protein kinase A (PKA). Prkar1a(+/-) mice developed OMX, fibrous dysplasia-like lesions (FDL) and other tumors. Tumor tissues in these animals had increased PKA...
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