Searchable abstracts of presentations at key conferences in endocrinology

ea0013p292 | Thyroid | SFEBES2007

The calcium-sensing receptor is a target of autoantibodies in patients with autoimmune polyendocrine syndrome type 1

Gavalas Nikos , Kemp Elizabeth , Krohn Kai , Brown Edward , Watson Philip , Weetman Anthony

Autoimmune polyendocrine syndrome type 1 (APS1) is a rare autosomal recessive disorder caused by mutations in the autoimmune regulator gene. Major disease components include mucocutaneous candidiasis, hypoparathyroidism and AddisonÂ’s disease. Acquired hypoparathyroidism (AH) occurs in 80% of APS1 patients and is associated with hypocalcaemia, hyperphosphataemia and low serum levels of parathyroid hormone (PTH). Reports suggest that these clinical symptoms are initiated by...

ea0028oc1.2 | Young Endocrinologists prize session | SFEBES2012

Structure-function analysis of calcium-sensing receptor (CaSR) mutations reveal clustering at calcium binding sites of the extracellular bilobed venus flytrap domain

Hannan Fadil , Nesbit M Andrew , Zhang Chen , Cranston Treena , Christie Paul , Fratter Carl , Brown Edward , Yang Jenny , Thakker Rajesh

The calcium-sensing receptor (CaSR) is a G protein-coupled receptor with an extracellular bilobed venus flytrap domain (VFTD) predicted to contain five calcium-binding sites. The major site for calcium-binding is comprised of amino acid residues that line the cleft between the two lobes of the VFTD. We investigated the structure-function relationships of VFTD CaSR mutations identified in patients with familial hypocalciuric hypercalcaemia (FHH), neonatal severe primary hyperpa...