Genomes and Genes
Rajesh V Thakker
Affiliation: University of Oxford
- Thakker R. Diseases associated with the extracellular calcium-sensing receptor. Cell Calcium. 2004;35:275-82 pubmed..e. autoimmune) of hypoparathyroidism. Thus, abnormalities of the CaSR are associated with three hypercalcaemic and three hypocalcaemic disorders. ..
- Hannan F, Babinsky V, Thakker R. Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis. J Mol Endocrinol. 2016;57:R127-42 pubmed publisher..In addition, calcimimetic and calcilytic drugs, which are positive and negative CaSR allosteric modulators, respectively, have been shown to be of potential benefit for these FHH and ADH disorders. ..
- Lines K, Vas Nunes R, Frost M, Yates C, Stevenson M, Thakker R. A MEN1 pancreatic neuroendocrine tumour mouse model under temporal control. Endocr Connect. 2017;6:232-242 pubmed publisher..Thus, we have established a mouse model (Men1L/L /RIP2-CreER) to study early events in the development of pancreatic Î²-cell NETs. ..
- Gorvin C, Rogers A, Hastoy B, Tarasov A, Frost M, Sposini S, et al. AP2σ Mutations Impair Calcium-Sensing Receptor Trafficking and Signaling, and Show an Endosomal Pathway to Spatially Direct G-Protein Selectivity. Cell Rep. 2018;22:1054-1066 pubmed publisher..Thus, compartmental bias for CaSR-mediated Gαq/11 endomembrane signaling provides a mechanistic basis for multidimensional GPCR signaling. ..
- Thakker R, Newey P, Walls G, Bilezikian J, Dralle H, Ebeling P, et al. Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1). J Clin Endocrinol Metab. 2012;97:2990-3011 pubmed publisher..Thus, it is recommended that MEN1 patients and their families should be cared for by multidisciplinary teams comprising relevant specialists with experience in the diagnosis and treatment of patients with endocrine tumors. ..
- Piret S, Gorvin C, Trinh A, Taylor J, Lise S, Taylor J, et al. Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation. Am J Med Genet A. 2016;170:2988-2992 pubmed publisher..Thus, we identified a CLCN7 mutation in a family with autosomal dominant osteopetrosis, RTA, renal stones, epilepsy, and blindness. © 2016 Wiley Periodicals, Inc. ..
- Hannan F, Howles S, Rogers A, Cranston T, Gorvin C, Babinsky V, et al. Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects. Hum Mol Genet. 2015;24:5079-92 pubmed publisher..Thus, our studies demonstrate AP2Ïƒ2 mutations to result in a more severe FHH phenotype with genotype-phenotype correlations, and a dominant-negative mechanism of action with mutational bias at the Arg15 residue. ..
- Thakker R. Multiple endocrine neoplasia type 1 (MEN1). Best Pract Res Clin Endocrinol Metab. 2010;24:355-70 pubmed publisher..The majority of MEN1 mutations are likely to disrupt the interactions of Menin with other proteins and thereby alter critical events in cell cycle regulation and proliferation...