Article
FGFR2 mutations in bent bone dysplasia syndrome activate nucleolar stress and perturb cell fate determination.
Human molecular genetics - 1 Sept 2017
Neben Cynthia L, Tuzon Creighton T, Mao Xiaojing, Lay Fides D, Merrill Amy E
Abstract excerpt
Fibroblast Growth Factor (FGF) signaling promotes self-renewal in progenitor cells by encouraging proliferation and inhibiting cellular senescence. Yet, these beneficial effects can be hijacked by disease-causing mutations in FGF receptor (FGFR) during embryogenesis. By studying dominant FGFR2 mutations that are germline in bent bone dysplasia syndrome (BBDS), we reveal a mechanistic connection between FGFR2,...
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