Newcastle University

Introduction

My research looks at the reasons why people get Graves' hyperthyroidism, autoimmune hypothyroidism and Addison's disease, and also at how treatment for these conditions could be improved. My studies range from laboratory based DNA analysis to clinical trials of new therapies.

Qualifications

MB, BS. First Class Hons. Newcastle University, 1989. MRCP(UK). RCP London 1992. MD with distinction, Newcastle University 1997. CCST Endocrinology/diabetes & General (internal) Medicine, STA, 2001. FRCP 2005

Previous Positions

1993-1996 MRC Training Fellow, Royal Postgraduate Medical School, London. 1995 Visiting Fellow, Parathyroid Lab, Harvard Medical School, Boston. 1996-1999 Wellcome Advanced Fellow, Newcastle University. 1999-2001 Clinical Lecturer Endocrinology, Newcastle University

Memberships

Society for Endocrinology. Bone and Tooth Society. British Thyroid Association. American Thyroid Association. The Endocrine Society

Research Interests

Molecular genetics of autoimmune endocrine disorders (eg. Graves' disease, Addison's disease & autoimmune polyendocrinopathies).
Parathyroid and calcium sensing disorders.
Outcome of subclinical thyroid diseases.

Other Expertise

Clinical endocrinology: -thyroid disease and calcium disorders

Funding

Wellcome trust project grant 2003-2006
MRC Training Fellowships 2000-2003, 2002-2006
Wellcome Trust International Biomedical Collaboration Award (2003-2006)
MRC Clinical Trial Grant 2006-2008
MRC Experimental Medicine Award 2008-2010
MRC Experimental Medicine Award 2008-2010
EU FP7 EURADRENAL Collaborative Project 2008-2013

Undergraduate Teaching

Deliver thyroid component to stage 2 students
Co-ordinate endocrinology delivery to CMB1000

Postgraduate Teaching

2 current PhD students
Contributor to Complex disease strand MSc Medical Genetics, MRes Molecular Bioscience

• Murray JS, Baines LA, Pearce SHS, Ball S, Leech N, Wood KM, Kanagasundaram NS. Anti-neutrophil cytoplasmic antibody (ANCA) associated small-vessel vasculitis in a patient with diabetic nephropathy and autoimmune polyendocrinopathy syndrome (APS) type 2: a case report. Clinical Nephrology 2012. In Press.
• Mitchell AL, Pearce SHS. Autoimmune Addison disease: pathophysiology and genetic complexity. Nature Reviews Endocrinology 2012, 8(5), 306-316.
• Razvi S, Weaver JU, Butler TJ, Pearce SHS. Levothyroxine Treatment of Subclinical Hypothyroidism, Fatal and Nonfatal Cardiovascular Events, and Mortality. Archives of Internal Medicine 2012, (epub ahead of print).
• Chakera AJ, Pearce SHS, Vaidya B. Treatment for primary hypothyroidism: current approaches and future possibilities. Drug Design, Development and Therapy 2012, 6, 1-11.
• Mitchell AL, Pearce SHS. "Grading" subclinical thyroid disease may be misleading: Authors' response to Goichot, Vinzio and Luca. Clinical Endocrinology 2011, 74(1), 137-138.
• Martin Ruiz C, Jagger C, Kingston A, Collerton J, Catt M, Davies K, Dunn M, Hilkens C, Keavney B, Pearce S, den Elzen W, Talbot D, Wiley L, Bond J, Mathers J, Eccles M, Robinson L, James O, Kirkwood T, von Zglinicki T. Assessment of a large panel of candidate biomarkers of ageing in the Newcastle 85+ study. Mechanisms of Ageing and Development 2011, 132(10), 496-502.
• Jenkinson EM, Clayton-Smith J, Mehta S, Bennett C, Reardon W, Green A, Pearce SHS, De Michele G, Conway GS, Cilliers D, Moreton N, Davis JR, Trump D, Newman WG. Perrault syndrome: further evidence for genetic heterogeneity. Journal of Neurology 2011, Epub ahead of print.
• Gan EH, Mitchell AL, MacArthur K, Pearce SHS. The role of a nonsynonymous CD226 (DNAX-accessory molecule-1) variant (Gly 307Ser) in isolated Addison's disease and autoimmune polyendocrinopathy type 2 pathogenesis. Clinical Endocrinology 2011, 75(2), 165-168.
• Pearce SHS, Cheetham TD. Diagnosis and management of vitamin D deficiency. British Medical Journal 2010,340 7738 142-147.
• Mitchell AL, Pearce SHS. How should we treat patients with low serum thyrotropin concentrations?. Clinical Endocrinology 2010, 72(3), 292-296.
• Mitchell AL, Pearce SHS. An elderly woman with weight loss and diarrhoea. British Medical Journal 2009, 338, b1721.
• Pearce SHS, ed. Autoimmune Endocrine Disorders. Philadelphia: Saunders, 2009.
• Owen CJ, Habeb A, Pearce SH, Wright M, Ichikawa S, Sorenson AH, Econs MJ, Cheetham TD. Discordance for X-Linked Hypophosphataemic Rickets in Identical Twin Girls. Hormone Research 2009, 71(4), 237-244.
• Roycroft M, Fichna M, McDonald D, Owen K, Zurawek M, Gryczynska M, Januszkiewicz-Lewandowska D, Fichna P, Cordell H , Donaldson P, Nowak J, Pearce S. The tryptophan 620 allele of the lymphoid tyrosine phosphatase (PTPN22 gene) predisposes to autoimmune Addison's disease. Clinical Endocrinology 2009, 70(3), 358-362.
• McDonald DO, Pearce SHS. Thyroid peroxidase forms thionamide-sensitive homodimers: relevance for immunomodulation of thyroid autoimmunity. Journal of Molecular Medicine 2009, 87(10), 971-980.
• Mitchell AL, Hickey B, Hickey JL, Pearce SHS. Trends in thyroid hormone prescribing and consumption in the UK. BMC Public Health 2009, 9, 132.
• Falardeau J, Chung WCJ, Beenken A, Raivio T, Plummer L, Sidis Y, Jacobson-Dickman EE, Eliseenkova AV, Ma J, Dvfyer A, Quinton R, Na S, Hall JE, Huot C, Alois N, Pearce SHS, Cole LW, Hughes V, Mohammadi M, Tsai P, Pitteloud N. Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice. Journal of Clinical Investigation 2008, 118(8), 2822-2831.
• Advani A, Vaikkakara S, Gill M, Arun CS, Pearce S, Ball SG, James R, Lennard TWJ, Bliss R, Quinton R, Johnson SJ. Impact of standardised reporting in adrenocortical carcinoma: A single centre clinicopathological review. Journal of Clinical Pathology 2008, 61(8), 939-944.
• Sievenpiper JL, McIntyre EA, Verrill M, Quinton R, Pearce SHS. Lesson of the week: Unrecognised severe hypovitaminosis D. British Medical Journal 2008, 336(7657), 1371-1374.
• Vaidya B, Pearce SHS. Management of hypothyroidism in adults. British Medical Journal 2008, 337, 284-289.
• Cole LW, Sidis Y, Zhang C, Quinton R, Plummer L, Pignatelli D, Hughes VA, Dwyer AA, Raivio T, Hayes FJ, Seminara SB, Huot C, Alos N, Speiser P, Takeshita A, Van Vliet G, Pearce SHS, Crowley Jr WF, Zhou Q-Y, Pitteloud N. Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: Molecular genetics and clinical spectrum. Journal of Clinical Endocrinology and Metabolism 2008, 93(9), 3551-3559.
• Skinningsrud B, Husebye ES, Pearce SH, McDonald DO, Brandal K, Wolff AB, Lovas K, Egeland T, Undlien DE. Polymorphisms in CLEC16A and CIITA at 16p13 are associated with primary adrenal insufficiency. Journal of Clinical Endocrinology and Metabolism 2008, 93(9), 3310-3317.
• Vaidya B, Williams GR, Abraham P, Pearce SHS. Radioiodine treatment for benign thyroid disorders: results of a nationwide survey of UK endocrinologists. Clinical Endocrinology 2008, 68(5), 814-820.
• Razvi S, Shakoor A, Vanderpump M, Weaver JU, Pearce SHS. The influence of age on the relationship between subclinical hypothyroidism and ischemic heart disease: A metaanalysis. Journal of Clinical Endocrinology and Metabolism 2008, 93(8), 2998-3007.
• Owen CJ, Kelly H, Eden JA, Merriman ME, Pearce SHS, Merriman TR. Analysis of the Fc receptor-like-3 (FCRL3) locus in caucasians with autoimmune disorders suggests a complex pattern of disease association. Journal of Clinical Endocrinology and Metabolism 2007, 92(3), 1106-1111.
• Burton PR, Clayton DG, Cardon LR, Craddock N, Deloukas P, Duncanson A, Kwiatkowski DP, McCarthy MI, Ouwehand WH, Samani NJ, Todd JA, Donnelly P, Barrett JC, Davison D, Easton D, Evans DM, Leung H-T, Marchini JL, Morris AP, Spencer CCA, Tobin MD, Attwood AP, Boorman JP, Cant B, Everson U, Hussey JM, Jolley JD, Knight AS, Koch K, Meech E, Nutland S, Prowse CV, Stevens HE, Taylor NC, Walters GR, Walker NM, Watkins NA, Winzer T, Jones RW, McArdle WL, Ring SM, Strachan DP, Pembrey M, Breen G, Clair DSt, Caesar S, Gordon-Smith K, Jones L, Fraser C, Green EK, Grozeva D, Hamshere ML, Holmans PA, Jones IR, Kirov G, Moskivina V, Nikolov I, O'Donovan MC, Owen MJ, Collier DA, Elkin A, Farmer A, Williamson R, McGuffin P, Young AH, Ferrier IN, Ball SG, Balmforth AJ, Barrett JH, Bishop TD, Iles MM, Maqbool A, Yuldasheva N, Hall AS, Braund PS, Dixon RJ, Mangino M, Stevens S, Thompson JR, Bredin F, Tremelling M, Parkes M, Drummond H, Lees CW, Nimmo ER, Satsangi J, Fisher SA, Forbes A, Lewis CM, Onnie CM, Prescott NJ, Sanderson J, Matthew CG, Barbour J, Mohiuddin MK, Todhunter CE, Mansfield JC, Ahmad T, Cummings FR, Jewell DP, Webster J, Brown MJ, Lathrop MG, Connell J, Dominiczak A, Marcano CAB, Burke B, Dobson R, Gungadoo J, Lee KL, Munroe PB, Newhouse SJ, Onipinla A, Wallace C, Xue M, Caulfield M, Farrall M, Barton A, Bruce IN, Donovan H, Eyre S, Gilbert PD, Hilder SL, Hinks AM, John SL, Potter C, Silman AJ, Symmons DPM, Thomson W, Worthington J, Dunger DB, Widmer B, Frayling TM, Freathy RM, Lango H, Perry JRB, Shields BM, Weedon MN, Hattersley AT, Hitman GA, Walker M, Elliott KS, Groves CJ, Lindgren CM, Rayner NW, Timpson NJ, Zeggini E, Newport M, Sirugo G, Lyons E, Vannberg F, Hill AVS, Bradbury LA, Farrar C, Pointon JJ, Wordsworth P, Brown MA, Franklyn JA, Heward JM, Simmonds MJ, Gough SCL, Seal S, Stratton MR, Rahman N, Ban M, Goris A, Sawcer SJ, Compston A, Conway D, Jallow M, Rockett KA, Bumpstead SJ, Chaney A, Downes K, Ghori MJR, Gwilliam R, Hunt SE, Inouye M, Keniry A, King E, McGinnis R, Potter S, Ravindrarajah R, Whittaker P, Widden C, Withers D, Cardin NJ, Ferreira T, Pereira-Gale J, Hallgrimsdottir IB, Howie BN, Su Z, Teo YY, Vukcevic D, Bentley D, Mitchell SL, Newby PR, Brand OJ, Carr-Smith J, Pearce SHS, McGinnis R, Keniry A, Deloukas P, Reveille JD, Zhou X, Sims A-M, Dowling A, Taylor J, Doan T, Davis JC, Savage L, Ward MM, Learch TL, Weisman MH. Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nature Genetics 2007, 39(11), 1329-1337.
• Pitteloud N, Quinton R, Pearce S, Raivio T, Acierno J, Dwyer A, Plummer L, Hughes V, Seminara S, Cheng Y-Z, Li W-P, Maccoll G, Eliseenkova AV, Olsen SK, Ibrahimi OA, Hayes FJ, Boepple P, Hall JE, Bouloux P, Mohammadi M, Crowley Jr W. Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism. Journal of Clinical Investigation 2007, 117(2), 457-463.
• Razvi S, Pearce SHS. Do antithyroid drugs influence outcome after radioiodine therapy for hyperthyroidism?. Nature Clinical Practice Endocrinology and Metabolism 2007. , 3(9), 628-629.
• Fanciulli M, Norsworthy PJ, Petretto E, Dong R, Harper L, Kamesh L, Heward JM, Gough SCL, De Smith A, Blakemore AIF, Froguel P, Owen CJ, Pearce SHS, Teixeira L, Guillevin L, Graham DSC, Pusey CD, Cook HT, Vyse TJ, Aitman TJ. FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity. Nature Genetics 2007, 39(6), 721-723.
• Sutherland A, Davies JM, Owen CJ, Vaikkakara S, Walker C, Cheetham TD, James RA, Perros P, Donaldson PT, Cordell HJ, Quinton R, Pearce SHS. Genomic polymorphism at the interferon-induced helicase (IFIH1) locus contributes to Graves' disease susceptibility. Journal of Clinical Endocrinology & Metabolism 2007, 92(8), 3338-3341.
• Raivio T, Falardeau J, Dwyer A, Quinton R, Hayes FJ, Hughes VA, Cole LW, Pearce SH, Lee H, Boepple P, Crowley WF, Pitteloud N. Reversal of idiopathic hypogonadotropic hypogonadism. New England Journal of Medicine 2007, 357(9), 863-873.
• Adamson K, Cheetham T, Kendall-Taylor P, Seckl J, Pearce S. The role of the IDDM2 locus in the susceptibility of UK APS1 subjects to type 1 diabetes mellitus. International Journal of Immunogenetics 2007, 34(1), 17-21.
• Owen CJ, Eden JA, Jennings CE, Wilson V, Cheetham TD, Pearce SHS. Genetic association studies of the FOXP3 gene in Graves' disease and autoimmune Addison's disease in the United Kingdom population. Journal of Molecular Endocrinology 2006, 37(1), 97-104.
• Pearce SHS, Merriman TR. Genetic progress towards the molecular basis of autoimmunity. Trends in Molecular Medicine 2006. , 12(2), 90-98.
• Razvi S, Vaidya B, Perros P, Pearce SHS. What is the evidence behind the evidence-base? The premature death of block-replace antithyroid drug regimens for Graves' disease. European Journal of Endocrinology 2006, 154(6), 783-786.
• Jennings CE, Owen CJ, Wilson V, Pearce SHS. A haplotype of the CYP27B1 promoter is associated with autoimmune Addison's disease but not with Graves' disease in a UK population. Journal of Molecular Endocrinology 2005, 34(3), 859-863.
• Jennings CE, Owen CJ, Wilson V, Pearce SHS. No association of the codon 55 methionine to valine polymorphism in the SUMO4 gene with Graves' disease. Clinical Endocrinology 2005,62 3 362-365.
• Velaga R, Jennings C, Wilson V, Owen C, Pearce SHS, Quinton R. Analysis of the gonadotropin-releasing hormone gene in patients with idiopathic hypogonadotrophic hypogonadism. In: 12th International Congress of Endocrinology. 2004, Lisbon, Portugal.
• Pearce SHS. Spontaneous reporting of adverse reactions to carbimazole and propylthiouracil in the UK. Clinical Endocrinology 2004,61 5 589-594.
• Velaga MR, Wilson V, Jennings CE, Owen CJ, Herington S, Donaldson PT, Ball SG, James RA, Quinton R, Perros P, Pearce SHS. The codon 620 tryptophan allele of the lymphoid tyrosine phosphatase (LYP) gene is a major determinant of Graves' disease. Journal of Clinical Endocrinology and Metabolism 2004, 89(11), 5862-5865.
• Vaidya B, Pearce S. The emerging role of the CTLA-4 gene in autoimmune endocrinopathies. European Journal of Endocrinology 2004. ,150 5 619-626.
• Pearce SHS, Leech NJ. Towards precise forecasting of autoimmune endocrinopathy.. Journal of Clinical Endocrinology and Metabolism 2004,89 2 544-547.
• Vaidya B, Oakes EJC, Imrie H, Dickinson AJ, Perros P, Kendall-Taylor P, Pearce SHS. CTLA4 gene and Graves' disease: association of Graves' disease with the CTLA4 exon 1 and intron 1 polymorphisms, but not with the promoter polymorphism. Clinical Endocrinology 2003, 58(6), 732-735.
• Sayer JA, Carr G, Pearce SHS, Goodship THJ, Simmons NL. Disordered calcium crystal handling in antisense CLC-5-treated collecting duct cells. Biochemical and Biophysical Research Communications 2003,300 2 305-310.
• Owen CJ, Jennings CE, Imrie H, Lachaux A, Bridges NA, Cheetham TD, Pearce SHS. Mutational analysis of the FOXP3 gene and evidence for genetic heterogeneity in the immunodysregulation, polyendocrinopathy, enteropathy syndrome. Journal of Clinical Endocrinology and Metabolism 2003, 88(12), 6034-6039.
• Merriman T, Hall R, Merriman M, Green R, Smyth D, Heward J, Jennings C, Highton J, Hunt P, Pokorny V, Willis J, Gough S, Pearce S, McLean L. The deleted in colorectal carcinoma (DCC) gene 201 R-G polymorphism: evidence for an impact on the ability of DCC to induce caspase-3 activity but not for genetic association with autoimmune disease. In: Diabetologia: 18th Congress of the International Diabetes Federation. 2003, Paris, France: Springer.
• Singh J, Pearce S, Moghal N, Cheetham TD. The investigation of hypocalcaemia and rickets. Archives of Disease in Childhood 2003,88 403-407.
• Vaidya B, Pearce SHS, Charlton S, Marshall N, Rowan AD, Griffiths ID, Kendall-Taylor P, Cawston TE, Young Min S. An association between the CTLA4 exon 1 polymorphism and early rheumatoid arthritis with autoimmune endocrinopathies. Rheumatology 2002, 41(2), 180-183.
• Pearce SHS. Clinical disorders of extracellular calcium-sensing and the molecular biology of the calcium-sensing receptor. Annals of Medicine 2002, 34(3), 201-206.
• Vaidya B, Imrie H, Kendall-Taylor P, Pearce SHS. Genome screening for Graves Disease Susceptibility loci in UK families. In: Akamizu T; Kasuga M; Davies TF, ed. The Genetics of Complex Thyroid Diseases. Tokyo: Springer, 2002, pp.23-41.
• Young-Min S, Pearce S, Vaidya B. Re: An association between the CTLA4 exon 1 polymorphism and early rheumatoid arthritis with autoimmune endocrinopathies, by Vaidya et al. - Reply. Rheumatology 2002, 41(10), 1213-1213.
• Young-Min S, Pearce S, Vaidya B. Reply Re: An association between the CTLA-4 exon 1 polymorphism and early rheumatoid arthritis with autoimmune endocrinopathies. Rheumatology 2002, 41(10), 1213a.
• Vaidya B, Kendall-Taylor P, Pearce SHS. The genetics of autoimmune thyroid disease. Journal of Clinical Endocrinology and Metabolism 2002, 87(12), 5385-5397.
• Vaidya B, Kendall-Taylor P, Pearce SHS. The genetics of autoimmune thyroid disease. Journal of Clinical Endocrinology and Metabolism 2002, 87(12), 5385-5397.
• Pearce SHS, Cheetham TD. Autoimmune polyendocrinopathy syndrome type 1: Treat with kid gloves. Clinical Endocrinology 2001, 54(4), 433-435.
• Young-Min S, Pearce SHS, Charlton S, Marshall N, Rowan AD, Griffiths ID, Kendall-Taylor P, Cawston TE, Vaidya B. Cytotoxic T lymphocyte antigen-4 (CTLA-4) exon 1 polymorphism in early rheumatoid arthritis. In: RHEUMATOLOGY. 2001, GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND: OXFORD UNIV PRESS.
• Sayer JA, Pearce SHS. Diagnosis and clinical biochemistry of inherited tubulopathies. Annals of Clinical Biochemistry 2001, 38(5), 459-470.
• Imrie H, Vaidya B, Perros P, Kelly WF, Toft AD, Young ET, Kendall-Taylor P, Pearce SHS. Evidence for a Graves' disease susceptibility locus at chromosome Xp11 in a United Kingdom population. Journal of Clinical Endocrinology and Metabolism 2001, 86(2), 626-630.
• Sayer JA, Stewart GS, Boese SH, Gray MA, Pearce SHS, Goodship THJ, Simmons NL. The voltage-dependent of Cl- channel ClC-5 and plasma membrane Cl- conductances of mouse renal collecting duct cells (mIMCD-3). Journal of Physiology 2001, 536(3), 769-783.
• Agarwal K, Jones DEJ, Daly AK, James OFW, Vaidya B, Pearce S, Bassendine MF. CTLA-4 gene polymorphism confers susceptibility to primary biliary cirrhosis. Journal of Hepatology 2000, 32(4), 538-541.
• Vaidya B, Pearce S, Kendall-Taylor P. Recent advances in the molecular genetics of congenital and acquired primary adrenocortical failure. Clinical Endocrinology 2000, 53(4), 403-418.
• Adamson K, Kendall-Taylor P, Cheetham TD, Pearce SHS. Spectrum of mutations in the AIRE1 gene in UK APS1 (APECED) kindreds. In: JOURNAL OF MEDICAL GENETICS. 2000.
• S. Pearce. Extracellular "calcistat" in health and disease. Lancet 1999, 353, 83-84.
• Pearce SHS, Vaidya BJ, Imrie H, Perros P, Kelly WF, Toft AD, McCarthy MI, Young ET, Kendall-Taylor P. Further evidence for a susceptibility locus on chromosome 20q13.11 in families with dominant transmission of Graves disease. American Journal of Human Genetics 1999, 65(5), 1462-1465.
• Pearce SHS, Cheetham TD, Imrie H, Vaidya BJ, Barnes ND, Bilous RW, Carr D, Meeran K, Shaw NJ, Smith CS, Toft AD, Williams G, Kendall-Taylor P. A common and recurrent 13-bp deletion in the autoimmune regulator gene in British kindreds with autoimmune polyendocrinopathy type 1. American Journal of Human Genetics 1998, 63(6), 1675-1684.
• Lloyd S.E., Gunther W., Pearce S.H.S., Thomson A., Bianchi M.L., Bosio M., Craig I.W., Fisher S.E., Scheinman S.J., Wrong O., Jentsch T.J., Thakker R.V. Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis disorders. Hum Mol Genet 1997, 6, 1233-1239.
• Lloyd S.E., Pearce S.H.S., Gunther W., Kawaguchi H., Igarashi T., Jentsch T.J., Thakker R.V. Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5). J Clin Invest 1997, 99, 967-974.
• S. H. S. Pearce, C. Williamson, O. Kifor, M. Bai, M. G. Coulthard, M. Davies, N. LewisBarned, D. McCredie, H. Powell, P. KendallTaylor, E. M. Brown and R. V. Thakker. A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor. New England Journal of Medicine 1996, 335, 1115-1122.
• Lloyd SE, Pearce SHS, Fisher SE, Steinmeyer K, Schwappach B, Scheinman SJ, Harding B, Bolino A, Devoto M, Goodyer P, Rigden SPA, Wrong O, Jentsch TJ, Craig IW, Thakker RV. Common molecular basis for three inherited kidney stone diseases.. Nature 1996, 379, 445-449.
• Bai M., Quinn S., Trivedi S., Kifor O., Pearce S.H.S., Pollak M.R., Krapcho K., Hebert S.C., Brown E.M. Expression and characterization of inactivating and activating mutations in the human Ca2+o-sensing receptor. J Biol Chem 1996, 271, 19537-19545.
• Pearce S.H.S., Bai M., Quinn S.J., Kifor O., Thakker R.V., Brown E.M. Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells. J Clin Invest 1996, 98, 1860-1866.
• Pearce S.H.S., Brown E.M. Genetic basis of endocrine disease: Disorders of calcium ion sensing. J Clin Endocrinol Metab 1996, 81, 2030-2035.