Searchable abstracts of presentations at key conferences in endocrinology

ea0005p145 | Endocrine Tumours and Neoplasia | BES2003

Molecular genetic diagnosis for disorders of calcium metabolism

Cranston T , Huson S , Seller A , Thakker R

Disorders of calcium metabolism may occur as hereditary traits eg. the Multiple Endocrine Neoplasia type 1 (MEN1) or type 2 (MEN2) syndromes, Familial isolated hyperparathyroidism (FIHP), neonatal severe primary hyperparathyroidism (NSHPT), Familial benign hypocalciuric hypercalcaemia (FBHH), the autoimmune poly- endocrinopathy-candidiasis-ectodermal-dystrophy (APECED) and DiGeorge syndromes, isolated hypoparathyroidism and the autosomal dominant hypocalcaemic hypercalciuria (...

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...

ea0019p202 | Growth and development | SFEBES2009

Characterisation of a novel GATA3 mutation in hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome

Gaynor K , Grigorieva I , Nesbit M , Cranston T , Gomes T , Gortner L , Thakker R

GATA3 mutations cause the congenital autosomal dominant Hypoparathyroidism, Deafness and Renal dysplasia (HDR) syndrome. GATA3 belongs to a family of dual zinc-finger transcription factors that recognise the consensus (A/T)GATA(A/G) motif and are involved in vertebrate embryonic development. We investigated a HDR proband for GATA3 abnormalities. Venous blood was obtained after informed consent, as approved by the local ethical committee, and leukocyte DNA extract...

ea0038p311 | Pituitary | SFEBES2015

The burden of AIP mutations in pituitary adenoma patients from the UK

Caimari F , Dang M N , Gabrovska P , Hernandez-Ramirez L C , Stals K , Bussell A M , Cranston T , Karavitaki N , Kumar A V , Hunter S , Kearney T , Trainer P J , Izatt I , Bevan J , Quinton R , Grieve J , Baldeweg S E , Grossman A B , Morrison P , Korbonits M

Introduction: Familial isolated pituitary adenoma (FIPA) and young-onset sporadic pituitary adenoma patients are suggested to be screened for mutations in AIP, a gene described in 2006 and amenable to UK testing since 2008.Methods: affected subjects have been tested in Exeter and Oxford genetic laboratories. Data were collected from 120 FIPA-families and 193 sporadic cases with young-onset disease (<30y) from 49 centres in the UK. The Mann&#...