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Items: 40


Mice with a Brd4 Mutation Represent a New Model of Nephrocalcinosis.

Gorvin CM, Loh NY, Stechman MJ, Falcone S, Hannan FM, Ahmad BN, Piret SE, Reed AA, Jeyabalan J, Leo P, Marshall M, Sethi S, Bass P, Roberts I, Sanderson J, Wells S, Hough TA, Bentley L, Christie PT, Simon MM, Mallon AM, Schulz H, Cox RD, Brown MA, Huebner N, Brown SD, Thakker RV.

J Bone Miner Res. 2019 Jul;34(7):1324-1335. doi: 10.1002/jbmr.3695. Epub 2019 Mar 4.


The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases.

Hannan FM, Kallay E, Chang W, Brandi ML, Thakker RV.

Nat Rev Endocrinol. 2018 Dec;15(1):33-51. doi: 10.1038/s41574-018-0115-0. Review.


Genetic approaches to metabolic bone diseases.

Hannan FM, Newey PJ, Whyte MP, Thakker RV.

Br J Clin Pharmacol. 2019 Jun;85(6):1147-1160. doi: 10.1111/bcp.13803. Epub 2018 Nov 28. Review.


Calcium-sensing receptor residues with loss- and gain-of-function mutations are located in regions of conformational change and cause signalling bias.

Gorvin CM, Frost M, Malinauskas T, Cranston T, Boon H, Siebold C, Jones EY, Hannan FM, Thakker RV.

Hum Mol Genet. 2018 Nov 1;27(21):3720-3733. doi: 10.1093/hmg/ddy263.


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

Gorvin CM, Babinsky VN, Malinauskas T, Nissen PH, Schou AJ, Hanyaloglu AC, Siebold C, Jones EY, Hannan FM, Thakker RV.

Sci Signal. 2018 Feb 20;11(518). pii: eaan3714. doi: 10.1126/scisignal.aan3714.


Large-scale exome datasets reveal a new class of adaptor-related protein complex 2 sigma subunit (AP2σ) mutations, located at the interface with the AP2 alpha subunit, that impair calcium-sensing receptor signalling.

Gorvin CM, Metpally R, Stokes VJ, Hannan FM, Krishnamurthy SB, Overton JD, Reid JG, Breitwieser GE, Thakker RV.

Hum Mol Genet. 2018 Mar 1;27(5):901-911. doi: 10.1093/hmg/ddy010.


Calcimimetic and calcilytic therapies for inherited disorders of the calcium-sensing receptor signalling pathway.

Hannan FM, Olesen MK, Thakker RV.

Br J Pharmacol. 2018 Nov;175(21):4083-4094. doi: 10.1111/bph.14086. Epub 2017 Dec 11. Review.


Cinacalcet corrects hypercalcemia in mice with an inactivating Gα11 mutation.

Howles SA, Hannan FM, Gorvin CM, Piret SE, Paudyal A, Stewart M, Hough TA, Nesbit MA, Wells S, Brown SD, Cox RD, Thakker RV.

JCI Insight. 2017 Oct 19;2(20). pii: 96540. doi: 10.1172/jci.insight.96540.


Identification of a novel loss-of-function PHEX mutation, Ala720Ser, in a sporadic case of adult-onset hypophosphatemic osteomalacia.

Goljanek-Whysall K, Tridimas A, McCormick R, Russell NJ, Sloman M, Sorani A, Fraser WD, Hannan FM.

Bone. 2018 Jan;106:30-34. doi: 10.1016/j.bone.2017.10.002. Epub 2017 Oct 3.



Mannstadt M, Bilezikian JP, Thakker RV, Hannan FM, Clarke BL, Rejnmark L, Mitchell DM, Vokes TJ, Winer KK, Shoback DM.

Nat Rev Dis Primers. 2017 Oct 5;3:17080. doi: 10.1038/nrdp.2017.80.


Hypercalcemic Disorders in Children.

Stokes VJ, Nielsen MF, Hannan FM, Thakker RV.

J Bone Miner Res. 2017 Nov;32(11):2157-2170. doi: 10.1002/jbmr.3296. Epub 2017 Nov 2. Review.



Mannstadt M, Bilezikian JP, Thakker RV, Hannan FM, Clarke BL, Rejnmark L, Mitchell DM, Vokes TJ, Winer KK, Shoback DM.

Nat Rev Dis Primers. 2017 Aug 31;3:17055. doi: 10.1038/nrdp.2017.55. Review. Erratum in: Nat Rev Dis Primers. 2017 Oct 05;3:17080.


Cinacalcet Rectifies Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia Type 2 (FHH2) Caused by a Germline Loss-of-Function Gα11 Mutation.

Gorvin CM, Hannan FM, Cranston T, Valta H, Makitie O, Schalin-Jantti C, Thakker RV.

J Bone Miner Res. 2018 Jan;33(1):32-41. doi: 10.1002/jbmr.3241. Epub 2017 Sep 22.


Mutant Mice With Calcium-Sensing Receptor Activation Have Hyperglycemia That Is Rectified by Calcilytic Therapy.

Babinsky VN, Hannan FM, Ramracheya RD, Zhang Q, Nesbit MA, Hugill A, Bentley L, Hough TA, Joynson E, Stewart M, Aggarwal A, Prinz-Wohlgenannt M, Gorvin CM, Kallay E, Wells S, Cox RD, Richards D, Rorsman P, Thakker RV.

Endocrinology. 2017 Aug 1;158(8):2486-2502. doi: 10.1210/en.2017-00111.


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.

JCI Insight. 2017 Feb 9;2(3):e91103. doi: 10.1172/jci.insight.91103.


Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis.

Hannan FM, Babinsky VN, Thakker RV.

J Mol Endocrinol. 2016 Oct;57(3):R127-42. doi: 10.1530/JME-16-0124. Review.


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.

N Engl J Med. 2016 Apr 7;374(14):1396-1398. doi: 10.1056/NEJMc1511646. No abstract available. Erratum in: N Engl J Med. 2016 Jun 9;374(23):e30.


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.

J Biol Chem. 2016 May 13;291(20):10876-85. doi: 10.1074/jbc.M115.696401. Epub 2016 Mar 18.


Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2).

Piret SE, Gorvin CM, Pagnamenta AT, Howles SA, Cranston T, Rust N, Nesbit MA, Glaser B, Taylor JC, Buchs AE, Hannan FM, Thakker RV.

J Bone Miner Res. 2016 Jun;31(6):1207-14. doi: 10.1002/jbmr.2797.


A G-protein Subunit-α11 Loss-of-Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2).

Gorvin CM, Cranston T, Hannan FM, Rust N, Qureshi A, Nesbit MA, Thakker RV.

J Bone Miner Res. 2016 Jun;31(6):1200-6. doi: 10.1002/jbmr.2778. Epub 2016 Feb 6.


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.

Hum Mol Genet. 2015 Sep 15;24(18):5079-92. doi: 10.1093/hmg/ddv226. Epub 2015 Jun 16.


The Calcilytic Agent NPS 2143 Rectifies Hypocalcemia in a Mouse Model With an Activating Calcium-Sensing Receptor (CaSR) Mutation: Relevance to Autosomal Dominant Hypocalcemia Type 1 (ADH1).

Hannan FM, Walls GV, Babinsky VN, Nesbit MA, Kallay E, Hough TA, Fraser WD, Cox RD, Hu J, Spiegel AM, Thakker RV.

Endocrinology. 2015 Sep;156(9):3114-21. doi: 10.1210/en.2015-1269. Epub 2015 Jun 8.


N-ethyl-N-Nitrosourea (ENU) induced mutations within the klotho gene lead to ectopic calcification and reduced lifespan in mouse models.

Esapa CT, Hannan FM, Babinsky VN, Potter P, Thomas GP, Croucher PI, Brown MA, Brown SD, Cox RD, Thakker RV.

PLoS One. 2015 Apr 10;10(4):e0122650. doi: 10.1371/journal.pone.0122650. eCollection 2015.


Association studies of calcium-sensing receptor (CaSR) polymorphisms with serum concentrations of glucose and phosphate, and vascular calcification in renal transplant recipients.

Babinsky VN, Hannan FM, Youhanna SC, Maréchal C, Jadoul M, Devuyst O, Thakker RV.

PLoS One. 2015 Mar 18;10(3):e0119459. doi: 10.1371/journal.pone.0119459. eCollection 2015.


Role of Ca2+ and L-Phe in regulating functional cooperativity of disease-associated "toggle" calcium-sensing receptor mutations.

Zhang C, Mulpuri N, Hannan FM, Nesbit MA, Thakker RV, Hamelberg D, Brown EM, Yang JJ.

PLoS One. 2014 Nov 24;9(11):e113622. doi: 10.1371/journal.pone.0113622. eCollection 2014.


Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3).

Rogers A, Nesbit MA, Hannan FM, Howles SA, Gorvin CM, Cranston T, Allgrove J, Bevan JS, Bano G, Brain C, Datta V, Grossman AB, Hodgson SV, Izatt L, Millar-Jones L, Pearce SH, Robertson L, Selby PL, Shine B, Snape K, Warner J, Thakker RV.

J Clin Endocrinol Metab. 2014 Jul;99(7):E1300-5. doi: 10.1210/jc.2013-3909. Epub 2014 Apr 7.


An N-ethyl-N-nitrosourea induced corticotropin-releasing hormone promoter mutation provides a mouse model for endogenous glucocorticoid excess.

Bentley L, Esapa CT, Nesbit MA, Head RA, Evans H, Lath D, Scudamore CL, Hough TA, Podrini C, Hannan FM, Fraser WD, Croucher PI, Brown MA, Brown SD, Cox RD, Thakker RV.

Endocrinology. 2014 Mar;155(3):908-22. doi: 10.1210/en.2013-1247. Epub 2013 Dec 3.


Calcium-sensing receptor (CaSR) mutations and disorders of calcium, electrolyte and water metabolism.

Hannan FM, Thakker RV.

Best Pract Res Clin Endocrinol Metab. 2013 Jun;27(3):359-71. doi: 10.1016/j.beem.2013.04.007. Epub 2013 May 18.


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.

N Engl J Med. 2013 Jun 27;368(26):2476-2486. doi: 10.1056/NEJMoa1300253.


Investigating hypocalcaemia.

Hannan FM, Thakker RV.

BMJ. 2013 May 9;346:f2213. doi: 10.1136/bmj.f2213. No abstract available.


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.

PLoS One. 2013;8(1):e55412. doi: 10.1371/journal.pone.0055412. Epub 2013 Jan 30.


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.

Nat Genet. 2013 Jan;45(1):93-7. doi: 10.1038/ng.2492. Epub 2012 Dec 9.


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.

Hum Mol Genet. 2012 Jun 15;21(12):2768-78. doi: 10.1093/hmg/dds105. Epub 2012 Mar 14.


A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia.

Hannan FM, Nesbit MA, Christie PT, Lissens W, Van der Schueren B, Bex M, Bouillon R, Thakker RV.

Clin Endocrinol (Oxf). 2010 Dec;73(6):715-22. doi: 10.1111/j.1365-2265.2010.03870.x.


Identification of a second kindred with familial hypocalciuric hypercalcemia type 3 (FHH3) narrows localization to a <3.5 megabase pair region on chromosome 19q13.3.

Nesbit MA, Hannan FM, Graham U, Whyte MP, Morrison PJ, Hunter SJ, Thakker RV.

J Clin Endocrinol Metab. 2010 Apr;95(4):1947-54. doi: 10.1210/jc.2009-2152. Epub 2010 Feb 4.


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.

Eur J Hum Genet. 2010 Apr;18(4):442-7. doi: 10.1038/ejhg.2009.161. Epub 2009 Oct 7.


Oncogenic hypophosphataemic osteomalacia: biomarker roles of fibroblast growth factor 23, 1,25-dihydroxyvitamin D3 and lymphatic vessel endothelial hyaluronan receptor 1.

Hannan FM, Athanasou NA, Teh J, Gibbons CL, Shine B, Thakker RV.

Eur J Endocrinol. 2008 Feb;158(2):265-71. doi: 10.1530/EJE-07-0485.


Familial isolated primary hyperparathyroidism caused by mutations of the MEN1 gene.

Hannan FM, Nesbit MA, Christie PT, Fratter C, Dudley NE, Sadler GP, Thakker RV.

Nat Clin Pract Endocrinol Metab. 2008 Jan;4(1):53-8.


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.

Clin Endocrinol (Oxf). 2006 Nov;65(5):598-605.


Vitamin D deficiency masking primary hyperparathyroidism.

Hannan FM, Fairney A, Johnston DG.

Ann Clin Biochem. 2004 Sep;41(Pt 5):405-7.


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