P
Paulo Osorio
Researcher at Pontifícia Universidade Católica do Paraná
Publications - 2
Citations - 167
Paulo Osorio is an academic researcher from Pontifícia Universidade Católica do Paraná. The author has contributed to research in topics: Gene & Germline mutation. The author has an hindex of 2, co-authored 2 publications receiving 154 citations. Previous affiliations of Paulo Osorio include National Institutes of Health.
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A cAMP-specific phosphodiesterase ( PDE8B ) that is mutated in adrenal hyperplasia is expressed widely in human and mouse tissues: a novel PDE8B isoform in human adrenal cortex
Anelia Horvath,Christoforos Giatzakis,Kit Man Tsang,Elizabeth Greene,Paulo Osorio,Sosipatros Boikos,Rossella Libé,Yianna Patronas,Audrey Robinson-White,Elaine F. Remmers,Jérôme Bertherat,Maria Nesterova,Constantine A. Stratakis +12 more
TL;DR: PDE8B is another PDE gene linked to iMAD; it is a candidate causative gene for other adrenocortical lesions linked to the cAMP signaling pathway and possibly for tumors in other tissues.
Journal ArticleDOI
Functional phosphodiesterase 11A mutations may modify the risk of familial and bilateral testicular germ cell tumors.
Anelia Horvath,Larissa A. Korde,Mark H. Greene,Rossella Libé,Paulo Osorio,Fabio R. Faucz,Marie Laure Raffin-Sanson,Kit Man Tsang,Limor Drori-Herishanu,Yianna Patronas,Elaine F. Remmers,Maria Eleni Nikita,Jason Moran,Joseph Greene,Maria Nesterova,Maria J. Merino,Jérôme Bertherat,Constantine A. Stratakis +17 more
TL;DR: It is reported that PDE11A-inactivating sequence variants may modify the risk of familial and bilateral TGCT, the first demonstration of the involvement of a PDE gene in TGCT; the cyclic AMP signaling pathway has been investigated extensively in reproductive organ function and their diseases.