Association Studies of Calcium-Sensing Receptor (CaSR) Polymorphisms with Serum Concentrations of Glucose and Phosphate, and Vascular Calcification in Renal Transplant Recipients.

Autor: Babinsky, Valerie N.¹, Hannan, Fadil M.¹, Youhanna, Sonia C.², Maréchal, Céline³, Jadoul, Michel³, Devuyst, Olivier^2,3, Thakker, Rajesh V.¹ rajesh.thakker@ndm.ox.ac.uk

Publikováno v: PLoS ONE. Mar2015, Vol. 10 Issue 3, p1-14. 14p.

Gα11 mutation in mice causes hypocalcemia rectifiable by calcilytic therapy

Autor: Gorvin, Caroline M., Hannan, Fadil M., Howles, Sarah A., Babinsky, Valerie N., Piret, Sian E., Rogers, Angela, Freidin, Andrew J., Stewart, Michelle, Paudyal, Anju, Hough, Tertius A., Nesbit, M. Andrew, Wells, Sara, Vincent, Tonia L., Brown, Stephen D.M., Cox, Roger D., Thakker, Rajesh V.

Publikováno v: JCI Insight

Heterozygous germline gain-of-function mutations of G-protein subunit α11 (Gα11), a signaling partner for the calcium-sensing receptor (CaSR), result in autosomal dominant hypocalcemia type 2 (ADH2). ADH2 may cause symptomatic hypocalcemia with low

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::9767b3bca8e78b1192dfa783490961e8
http://ora.ox.ac.uk/objects/uuid:

Calcilytic NPSP795 Increases Plasma Calcium and PTH in an Autosomal Dominant Hypocalcemia Type 1 Mouse Model.

Autor: Hannan, Fadil M, Gorvin, Caroline M, Babinsky, Valerie N, Olesen, Mie K, Stewart, Michelle, Wells, Sara, Cox, Roger D, Nemeth, Edward F, Thakker, Rajesh V

Publikováno v: JBMR Plus; Oct2020, Vol. 4 Issue 10, p1-9, 9p

Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects

Autor: Hannan, Fadil M, Howles, Sarah A, Rogers, Angela, Cranston, Treena, Gorvin, Caroline M, Babinsky, Valerie N, Reed, Anita A, Thakker, Clare E, Bockenhauer, Detlef, Brown, Rosalind S, Connell, John M, Cook, Jacqueline, Darzy, Ken, Ehtisham, Sarah, Graham, Una, Hulse, Tony, Hunter, Steven J, Izatt, Louise, Kumar, Dhavendra, McKenna, Malachi J, McKnight, John A, Morrison, Patrick J, Mughal, M Zulf, O'Halloran, Domhnall, Pearce, Simon H, Porteous, Mary E, Rahman, Mushtaqur, Richardson, Tristan, Robinson, Robert, Scheers, Isabelle, Siddique, Haroon, Van't Hoff, William G, Wang, Timothy, Whyte, Michael P, Nesbit, M Andrew, Thakker, Rajesh V

Publikováno v: Human Molecular Genetics
Hannan, F M, Howles, S A, Rogers, A, Cranston, T, Gorvin, C M, Babinsky, V N, Reed, A A, Thakker, C E, Bockenhauer, D, Brown, R S, Connell, J M, Cook, J, Darzy, K, Ehtisham, S, Graham, U, Hulse, T, Hunter, S J, Izatt, L, Kumar, D, McKenna, M J, McKnight, J A, Morrison, P J, Mughal, M Z, O'Halloran, D, Pearce, S H, Porteous, M E, Rahman, M, Richardson, T, Robinson, R, Scheers, I, Siddique, H, van't Hoff, W G, Wang, T, Whyte, M P, Nesbit, M A & Thakker, R V 2015, ' Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects ', Human Molecular Genetics, vol. 24, no. 18, pp. 5079-5092 . https://doi.org/10.1093/hmg/ddv226
Human Molecular Genetics, Vol. 24, no.18, p. 5079-5092 (2015)

The adaptor protein-2 sigma subunit (AP2sigma;2) is pivotal for clathrin-mediated endocytosis of plasma membrane constituents such as the calcium-sensing receptor (CaSR). Mutations of the AP2sigma;2 Arg15 residue result in familial hypocalciuric hype

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::351ab40b87e72000ea90a72357fa2c2a
https://doi.org/10.1093/hmg/ddv226

A calcium-sensing receptor mutation causing hypocalcemia disrupts a transmembrane salt bridge to activate β-arrestin-biased signaling.

Autor: Gorvin, Caroline M., Babinsky, Valerie N., Malinauskas, Tomas, Nissen, Peter H., Schou, Anders J., Hanyaloglu, Aylin C., Siebold, Christian, Jones, E. Yvonne, Hannan, Fadil M., Thakker, Rajesh V.

Publikováno v: Science Signaling; 2/20/2018, Vol. 11 Issue 518, p1-N.PAG, 14p