Giampaola Trivellin and colleagues investigate the orphan G protein-coupled receptor (GPR101) for its possible involvement in corticotropinomas. They performed a set of analyses in children with sporadic Cushing Disease (CD) and revealed a rare germline heterozygous GPR101 variant (p.G31S) in one patient with CD by sequencing analyses but their in vitro studies did not support a consistent pathogenic effect
Trivellin, Giampaolo et al. Endocrine-Related Cancer.
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The Jackson Laboratory, Farmington