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Functional characterization of calcium sensing receptor polymorphisms and absence of association with indices of calcium homeostasis and bone mineral density.
Harding B, Curley AJ, Hannan FM, Christie PT, Bowl MR, Turner JJ, Barber M, Gillham-Nasenya I, Hampson G, Spector TD, Thakker RV. Harding B, et al. Among authors: hannan fm. Clin Endocrinol (Oxf). 2006 Nov;65(5):598-605. doi: 10.1111/j.1365-2265.2006.02634.x. Clin Endocrinol (Oxf). 2006. PMID: 17054460
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. 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. 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: hannan fm. 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.
Autosomal dominant hypercalciuria in a mouse model due to a mutation of the epithelial calcium channel, TRPV5.
Loh NY, Bentley L, Dimke H, Verkaart S, Tammaro P, Gorvin CM, Stechman MJ, Ahmad BN, Hannan FM, Piret SE, Evans H, Bellantuono I, Hough TA, Fraser WD, Hoenderop JG, Ashcroft FM, Brown SD, Bindels RJ, Cox RD, Thakker RV. Loh NY, et al. Among authors: hannan fm. PLoS One. 2013;8(1):e55412. doi: 10.1371/journal.pone.0055412. Epub 2013 Jan 30. PLoS One. 2013. PMID: 23383183 Free PMC article.
70 results