Searchable abstracts of presentations at key conferences in endocrinology

ea0049s27.3 | Vitamin D beyond bone (Endorsed by Endocrine Connections) | ECE2017


Bouillon Roger

The vitamin D endocrine system (D-endo) is essential for calcium and bone homeostasis. The vitamin D receptor, VDR, is ubiquitously expressed and about 3% of the mouse or human genome is regulated by D-endo. VDR knock-out mice show impaired striated muscle maturation and selective VDR deficiency in heart muscle cause cardiomyopathy. Muscle weakness may be severe in patients with severe chronic renal failure combined with vitamin D deficiency or in subjects with congenital CYP2...

ea0013oc9 | Clinical and translational endocrinology | SFEBES2007

A novel homozygous inactivating mutation, Pro339Thr, of the calcium-sensing receptor is associated with isolated primary hyperparathyroidism

Hannan Fadil , Andrew Nesbit M , Christie Paul , Lissens Willy , Bex Marie , Bouillon Roger , Thakker Rajesh

The calcium-sensing receptor (CaSR) plays a central role in regulating parathyroid hormone (PTH) secretion in response to changes in extracellular calcium. The CaSR is a G-protein-coupled receptor and ligand binding results in stimulation of phospholipase C (PLC) activity, causing accumulation of inositol 1,4,5-triphosphate (IP3) and the rapid release of calcium ions from intracellular stores. Given the pivotal role of the CaSR in calcium homeostasis, we decided to ...

ea0070aep184 | Bone and Calcium | ECE2020

Free 25-hydroxyvitamin D, but not free 1.25-dihydroxyvitamin D, predicts all-cause mortality in ageing men

Antonio Leen , Dejaeger Marian , Bouillon Roger , Wu Frederick , O’Neill Terence , Pye Stephen , Huhtaniemi Ilpo , Rastrelli Giulia , Forti Gianni , Casanueva Felipe , Slowikowska-Hilczer Jolanta , Punab Margus , Tournoy Jos , Vanderschueren Dirk

Background: Total 25 hydroxyvitamin D (25(OH)D) and total 1.25 dihydroxyvitamin D (1.25(OH)2D) are associated with all-cause mortality. The free hormone hypothesis postulates that only the free vitamin D fraction can exert its biological function. Recently some studies suggested that free 25(OH)D levels might be a better predictor for clinical outcomes, including mortality.Objective: To study the association between total and free 25(OH)D and ...

ea0016p673 | Steroid receptors | ECE2008

Vitamin D receptor gene polymorphism influences the amplitude of 1,25(OH)2D3 immune impact

van Etten Evelyne , Verlinden Lieve , Giulietti Annapaula , Lopez Elizabeth Ramon , Branisteanu Dumitru D , Ferreira Gabriela Bomfim , Overbergh Lutgaard , Verstuyf Annemieke , Bouillon Roger , Roep Bart O , Badenhoop Klaus , Mathieu Chantal

1,25-Dihydroxyvitamin D3 (1,25(OH)2D3) influences the differentiation and cytokine secretion of various immune cell types. These immune modulating effects of 1,25(OH)2D3 are mediated through the nuclear vitamin D receptor (VDR). In the immune system, the 1,25(OH)2D3/VDR complex interacts with promoter vitamin D responsive elements (VDRE), or interferes with the signalling of other transcription factor...