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Comparison of human chromosome 19q13 and syntenic region on mouse chromosome 7 reveals absence, in man, of 11.6 Mb containing four mouse calcium-sensing receptor-related sequences: relevance to familial benign hypocalciuric hypercalcaemia type 3.
Hannan FM, Nesbit MA, Turner JJ, Stacey JM, Cianferotti L, Christie PT, Conigrave AD, Whyte MP, Thakker RV. Hannan FM, et al. Among authors: nesbit ma. Eur J Hum Genet. 2010 Apr;18(4):442-7. doi: 10.1038/ejhg.2009.161. Epub 2009 Oct 7. Eur J Hum Genet. 2010. PMID: 19809483 Free PMC article.
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: nesbit ma. 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. 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.
Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects.
Hannan FM, Howles SA, Rogers A, Cranston T, Gorvin CM, Babinsky VN, Reed AA, Thakker CE, Bockenhauer D, Brown RS, Connell JM, Cook J, Darzy K, Ehtisham S, Graham U, Hulse T, Hunter SJ, Izatt L, Kumar D, McKenna MJ, McKnight JA, Morrison PJ, Mughal MZ, O'Halloran D, Pearce SH, Porteous ME, Rahman M, Richardson T, Robinson R, Scheers I, Siddique H, Van't Hoff WG, Wang T, Whyte MP, Nesbit MA, Thakker RV. Hannan FM, et al. Among authors: nesbit ma. Hum Mol Genet. 2015 Sep 15;24(18):5079-92. doi: 10.1093/hmg/ddv226. Epub 2015 Jun 16. Hum Mol Genet. 2015. PMID: 26082470 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: nesbit ma. 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.
Gα11 mutation in mice causes hypocalcemia rectifiable by calcilytic therapy.
Gorvin CM, Hannan FM, Howles SA, Babinsky VN, Piret SE, Rogers A, Freidin AJ, Stewart M, Paudyal A, Hough TA, Nesbit MA, Wells S, Vincent TL, Brown SD, Cox RD, Thakker RV. Gorvin CM, et al. Among authors: nesbit ma. JCI Insight. 2017 Feb 9;2(3):e91103. doi: 10.1172/jci.insight.91103. JCI Insight. 2017. PMID: 28194447 Free PMC article.
111 results