Searchable abstracts of presentations at key conferences in endocrinology

ea0019oc28 | Bone and Calcium | SFEBES2009

Novel Glial Cells Missing B (GCMB) mutations (Arg39Stop and Arg110Trp) that result in loss of subcellular localization and DNA binding, respectively, are associated with autosomal recessive hypoparathyroidism

Bowl MR , Mirczuk S , Cranston T , Bahl S , Allgrove J , Nesbit MA , Thakker RV

GCMB, which is the mammalian homologue of the Drosophila gene Glial cells missing, encodes a 506 amino acid parathyroid-specific transcription factor that contains: a GCM DNA-binding domain at residues 19–176; a predicted nuclear localization signal (NLS) at residues 176–193; an inhibitory domain at residues 258–347; and two transactivation domains at residues 174–263, and residues 428–506. To date only six different GCMB mu...

ea0019p5 | Bone | SFEBES2009

Identification of a kindred from Northern Ireland with familial hypocalciuric hypercalcaemia type 3, which maps to chromosome 19q13.3

Nesbit MA , Hannan FH , Graham U , Hunter S , Morrison PJ , Thakker RV

Familial hypocalciuric hypercalcaemia (FHH) is an autosomal dominant disorder of mineral metabolism that is characterized by lifelong elevation of serum calcium concentrations associated with inappropriately low urinary calcium excretion (calcium clearance:creatinine clearance <0.01). Three separate FHH loci have been identified (FHH1-3). Loss-of-function mutations of the calcium-sensing receptor (CaSR) gene located on 3q21.1, which account for the majority of FHH c...