Searchable abstracts of presentations at key conferences in endocrinology

ea0025p17 | Bone | SFEBES2011

A 5′-untranslated region mutation of the growth and differentiation factor 5 (Gdf5) gene increases expression and is associated with decreased urinary excretion of the cartilage degradation product, CTX-II: relevance to osteoarthritis

Nesbit M Andrew , Esapa Chris , Head Rosie , Gaynor Katie , Cox Roger , Brown Steve , Thakker Rajesh

Osteoarthritis (OA) may be associated with endocrine disorders such as hypothyroidism, obesity, primary hyperparathyroidism or acromegaly, although often its cause remains undefined. To facilitate investigations of the underlying molecular mechanisms of OA we have investigated N-ethyl-N-nitrosourea (ENU) mutant mice using a genotype-driven approach in which candidate genes are examined for mutations. One such investigated gene is growth and differentiation factor...

ea0021p16 | Bone | SFEBES2009

A novel GATA3 mutation, Tyr345Cys, in hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome results in abolished DNA binding

Grigorieva Irina , Gaynor Katie , Cranston Treena , McWilliam Catherine , Ahmed Faisal , Nesbit M Andrew , Thakker Rajesh

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 extracted. GATA3 spec...

ea0034oc5.1 | Pituitary | SFEBES2014

Increased frequency and earlier onset of pituitary tumours in mice deleted for a multiple endocrine neoplasia type 1 allele and null for prolyl hydroxylase domain protein 1 (Men1+/−/Phd1−/−)

Stevenson Mark , Piret Sian , Javid Mahsa , Bishop Tammie , Reed Anita , Walls Gerard , Gaynor Katie , Newey Paul , Christie Paul , Nicholls Lynn , Ratcliffe Peter , Thakker Rajesh

Cumulative genetic abnormalities within an oncogenic pathway may contribute to earlier onset or increased aggressiveness of cancers. An example in human and murine cancer is the dysregulation of Wnt signalling by inactivation of the adenomatous polyposis coli (APC) gene that results in accumulation of nuclear β-catenin and earlier onset of renal cell carcinoma, which can be accelerated by p53-deficiency. We therefore investigated the effects of such cumulative genetic abn...

ea0021oc4.3 | Bone and parathyroid | SFEBES2009

Mice deleted for the transcription factor Gata3 have fewer parathyroid cells expressing Gcm2, develop hypocalcaemia and have an earlier onset of mortality when challenged with a low calcium-vitamin D diet

Grigorieva Irina , Mirczuk Samantha , Gaynor Katie , Nesbit M Andrew , Grigorieva Elena , Wei Qiaozhi , van der Wees Jacqueline , Fraser William , Hough Tertius , Manley Nancy , Grosveld Frank , Thakker Rajesh

Heterozygous mutations of GATA3, a dual zinc-finger transcription factor, cause the hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome. To study the role of GATA3 in parathyroid function we have investigated Gata3+/− mice for hypoparathyroidism. Gata3+/− and Gata3+/+ mice were challenged at weaning with a diet low in calcium (0.001%) and vitamin D (0.0 IU/g). The low calcium-vitamin D diet led to a ...