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Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.
Hannan FM, Nesbit MA, Zhang C, Cranston T, Curley AJ, Harding B, Fratter C, Rust N, Christie PT, Turner JJ, Lemos MC, Bowl MR, Bouillon R, Brain C, Bridges N, Burren C, Connell JM, Jung H, Marks E, McCredie D, Mughal Z, Rodda C, Tollefsen S, Brown EM, Yang JJ, Thakker RV. Hannan FM, et al. Among authors: rust n. Hum Mol Genet. 2012 Jun 15;21(12):2768-78. doi: 10.1093/hmg/dds105. Epub 2012 Mar 14. Hum Mol Genet. 2012. PMID: 22422767
Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.
Nesbit MA, Hannan FM, Howles SA, Reed AA, Cranston T, Thakker CE, Gregory L, Rimmer AJ, Rust N, Graham U, Morrison PJ, Hunter SJ, Whyte MP, McVean G, Buck D, Thakker RV. Nesbit MA, et al. Among authors: rust n. Nat Genet. 2013 Jan;45(1):93-7. doi: 10.1038/ng.2492. Epub 2012 Dec 9. Nat Genet. 2013. PMID: 23222959 Free PMC article.
Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia.
Nesbit MA, Hannan FM, Howles SA, Babinsky VN, Head RA, Cranston T, Rust N, Hobbs MR, Heath H 3rd, Thakker RV. Nesbit MA, et al. Among authors: rust n. N Engl J Med. 2013 Jun 27;368(26):2476-2486. doi: 10.1056/NEJMoa1300253. N Engl J Med. 2013. PMID: 23802516 Free PMC article.
Allosteric Modulation of the Calcium-sensing Receptor Rectifies Signaling Abnormalities Associated with G-protein α-11 Mutations Causing Hypercalcemic and Hypocalcemic Disorders.
Babinsky VN, Hannan FM, Gorvin CM, Howles SA, Nesbit MA, Rust N, Hanyaloglu AC, Hu J, Spiegel AM, Thakker RV. Babinsky VN, et al. Among authors: rust n. J Biol Chem. 2016 May 13;291(20):10876-85. doi: 10.1074/jbc.M115.696401. Epub 2016 Mar 18. J Biol Chem. 2016. PMID: 26994139 Free PMC article.
Cinacalcet for Symptomatic Hypercalcemia Caused by AP2S1 Mutations.
Howles SA, Hannan FM, Babinsky VN, Rogers A, Gorvin CM, Rust N, Richardson T, McKenna MJ, Nesbit MA, Thakker RV. Howles SA, et al. Among authors: rust n. N Engl J Med. 2016 Apr 7;374(14):1396-1398. doi: 10.1056/NEJMc1511646. N Engl J Med. 2016. PMID: 27050234 Free PMC article. No abstract available.
77 results