Ontology highlight
ABSTRACT:
SUBMITTER: Horvath A
PROVIDER: S-EPMC2734464 | biostudies-literature | 2009 Jul
REPOSITORIES: biostudies-literature
Horvath Anelia A Korde Larissa L Greene Mark H MH Libe Rossella R Osorio Paulo P Faucz Fabio Rueda FR Raffin-Sanson Marie Laure ML Tsang Kit Man KM Drori-Herishanu Limor L Patronas Yianna Y Remmers Elaine F EF Nikita Maria Eleni ME Moran Jason J Greene Joseph J Nesterova Maria M Merino Maria M Bertherat Jerome J Stratakis Constantine A CA
Cancer research 20090623 13
Inactivating germline mutations in phosphodiesterase 11A (PDE11A) have been implicated in adrenal tumor susceptibility. PDE11A is highly expressed in endocrine steroidogenic tissues, especially the testis, and mice with inactivated Pde11a exhibit male infertility, a known testicular germ cell tumor (TGCT) risk factor. We sequenced the PDE11A gene-coding region in 95 patients with TGCT from 64 unrelated kindreds. We identified 8 nonsynonymous substitutions in 20 patients from 15 families: four (R ...[more]