Searchable abstracts of presentations at key conferences in endocrinology

ea0065oc3.4 | Bone and Calcium | SFEBES2019

Characterisation of rare GNA11 variants reveals 8 novel residues important for signalling by the calcium-sensing receptor: Relevance for FHH and ADH

Gluck Anna , Lines Kate , Gorvin Caroline , Inoue Asuka , Hannan Fadil , Breitwieser Gerda , Thakker Rajesh

The calcium-sensing receptor (CaSR) is a G-protein coupled receptor that predominantly signals via Gαq/11-mediated pathways to regulate extracellular calcium (Ca2+e) homeostasis. Germline Gα11 inactivating and activating mutations cause familial hypocalciuric hypercalcaemia type-2 (FHH2) and autosomal dominant hypocalcaemia type-2 (ADH2), respectively. To date, four FHH2 and six ADH2 mutations have been reported. To identif...