Searchable abstracts of presentations at key conferences in endocrinology

ea0065p140 | Endocrine Neoplasia and Endocrine Consequences of Living with and Beyond Cancer | SFEBES2019

A cyclin dependent kinase inhibitor 1B missense mutation (Pro69Leu) is associated with familial hypomagnesaemia, but not multiple endocrine neoplasia type 4 (MEN4)

Stevenson Mark , Olinger Eric , Debaix Huguette , Vogt Bruno , Devuyst Olivier , Thakker Rajesh

Mutations in cyclin dependent kinase inhibitor 1B (CDKN1B) are associated with multiple endocrine neoplasia type 4 (MEN4), in which patients typically develop parathyroid and anterior pituitary tumours, and occasionally tumours of the pancreas, adrenals, kidneys and reproductive organs. Here, we report a family with a missense mutation of CDKN1B (p.Pro69Leu) that did not have MEN4-associated tumours, but instead had hypomagnesaemia. The proband, presented wit...

ea0031p177 | Obesity, diabetes, metabolism and cardiovascular | SFEBES2013

Association of calcium-sensing receptor polymorphisms with vascular calcification and glucose homeostasis in renal transplant recipients

Babinsky Valerie N , Hannan Fadil M , Youhanna Sonia , Devuyst Olivier , Thakker Rajesh V

The calcium-sensing receptor (CaSR) is a G-protein coupled receptor that regulates extracellular calcium concentration. The CaSR is also implicated in the pathogenesis of non-calcium disorders such as vascular calcification and diabetes, which are leading causes of cardiovascular disease. Common CaSR single nucleotide polymorphisms (SNPs) have been demonstrated to be determinants of calcium metabolism. The aim of this study was to investigate whether CaSR SNPs may influence va...

ea0021p23 | Bone | SFEBES2009

A mouse model of early-onset renal failure, tertiary hyperparathyroidism and renal osteodystrophy

Esapa Chris , Head Rosie , Di Pretoro Simona , Crane Elisabeth , Loh Nellie , Devuyst Olivier , Thomas Gethin , Brown Steve , Brown Matt , Croucher Peter , Cox Roger , Thakker Rajesh

Abnormalities of calcium homeostasis such as secondary or tertiary hyperparathyroidism, and renal osteodystrophy often occur in patients with kidney failure. However, investigations of the underlying molecular mechanisms have been hampered by the lack of available tissues from patients and the lack of suitable animal models. We therefore sought to overcome this limitation by investigating mice treated with the chemical mutagen N-ethyl-N-nitrosourea and identified...

ea0015oc37 | Thyroid | SFEBES2008

Endocytosis involves a CLC-5 and KIF3B interaction: relevance to thyroid and renal tubular function

Reed Anita AC , Loh Nellie , Lippiat Jonathan , Partridge Chris , Galvanovskis Juris , Williams Sian , Jouret Francois , Wu Fiona , Courtoy Pierre , Nesbit M Andrew , Devuyst Olivier , Rorsman Patrik , Ashcroft Frances , Thakker Rajesh V

Endocrine cells utilise endocytosis to scavenge polypeptide hormones, and to generate signals from inactive precursors, such as release of thyroid hormones from thyroglobulin in thyrocytes, and activation of vitamin D after reabsorption of ultrafiltrated pro-vitamin D binding protein complex by renal proximal tubular cells (PTC). We have investigated the role of CLC-5, a chloride/proton antiporter expressed in apical endosomes and the apical plasma membrane of thyrocytes and P...