Searchable abstracts of presentations at key conferences in endocrinology

ea0031p3 | Bone | SFEBES2013

Mutations in CLC-5 cause disturbances in cytoskeletal dynamics and solute transport in Dent's disease renal proximal tubule cell-lines

Gorvin Caroline , Piret Sian , Baban Dilair , Wilmer Martijn , van den Heuvel Lambertus , Levtchenko Elena , Thakker Rajesh

Dent’s disease is a renal proximal tubular Fanconi disorder characterised by generalised loss of solutes incuding insulin, glucose, PTH, amino acids and vitamin-D binding protein and is associated with rickets in 25% and phosphaturia in ~40% of patients. Dent’s disease is caused by mutations in the chloride/proton antiporter CLC-5, which, with megalin and cubilin has a role in receptor-mediated endocytosis and vesicle trafficking. To further elucidate the role of CLC...

ea0021oc3.4 | Young Endocrinologists prize session | SFEBES2009

MicroRNAs, let-7 and miR-302, have an altered expression in Men1-null embryos, consistent with abnormal embryonic development

Bowl Michael , Newey Paul , Reed Anita , Walls Gerard , Baban Dilair , Nesbit Andrew , Thakker Rajesh

The multiple endocrine neoplasia type 1 (MEN1) gene, which when mutated gives rise to parathyroid, pancreatic and pituitary tumours, has been shown to have a role in embryogenesis, as Men1-null mice (Men1−/−) are embryonic lethal by 12.5 days post coitum (dpc). MicroRNAs (miRNAs) are emerging as potent regulators of early mammalian embryogenesis, and we therefore undertook expression profiling of miRNAs in Men1+/+ and M...

ea0034p406 | Thyroid | SFEBES2014

Hypoxic incubation favours the development and growth of primary human parathyroid adenoma cells

Lines Kate E , Stevenson Mark , Mihai Radu , Grigorieva Irina V , Baban Dilair , Gaynor Katherine U , Jeyabalan Jeshmi , Javid Mahsa , Thakker Rajesh V

Hypoxia is a primary stimulus for angiogenesis, which is important for tumour proliferation and survival. The effects of hypoxia on parathyroid tumour cells, which may be important for parathyroid autotransplantation in patients, are however, not known. We therefore assessed the effects of hypoxia on gene expression in parathyroid adenoma cells from patients with primary hyperparathyoridism. Cell suspensions from human parathyroid adenomas (n=5) were cultured and afte...