Dr Elizabeth Helen Kemp
BSc (Hons), PhD
Clinical Medicine, School of Medicine and Population Health
Research Fellow in Endocrinology
+44 114 215 9203
Full contact details
Clinical Medicine, School of Medicine and Population Health
EU10
The Medical School
Beech Hill Road
Sheffield
S10 2RX
- Profile
-
For enquiries, please contact - ClinMed-Operational@sheffield.ac.uk
I joined the University of Sheffield in 1988 after a PhD in Microbiology at the University of Warwick and the Centre for Applied Microbiology and Research, Salisbury. After postdoctoral research in the Department of Molecular Biology and Biotechnology (with Dr Anne Moir), I moved to the Medical School to take up a research position with Professor Tony Weetman. Currently, I am a Research Fellow based in the Department of Oncology and Metabolism in the endocrinology theme.
Current PhD Opportunities:
- Research interests
-
Autoimmune vitiligo: I have a long-standing interest in the autoimmune and genetic aspects of the depigmenting disease vitiligo along with Professor Tony Weetman and Professor David Gawkrodger (University of Sheffield). Current collaborators include: Dr Rosalie Luiten (University of Amsterdam, The Netherlands), Dr Vandana Pradhan (National Institute of Immunohaematology, India), and Dr Andrew McDonagh (Sheffield Teaching Hospitals) on projects to profile autoantibody responses against melanocytes in melanoma, vitiligo and alopecia areata, respectively. I am a collaborator in The VitGene Consortium, headed by Professor Richard Spritz (University of Colorado, USA) and funded by the National Institutes of Health, which has identified several novel vitiligo-susceptibility genes.
Autoimmune parathyroid disease and autoimmune polyendocrine syndromes: I am interested in characterising autoimmune responses against the calcium-sensing receptor in patients with parathyroid autoimmunity. Current collaborators include: Professor Ed Brown (Harvard Medical School, USA), Professor Kai Krohn (Clinical Research Institute HUCH Ltd., Helsinki, Finland), Professor Eystein Husebye (University of Bergen), and Professor George Kahaly (Johannes Gutenberg University Medical Center, Germany).
Autoimmune thyroid disease: I am interested in the aetiology of autoimmune thyroid disease and, with Professor Tony Weetman and Dr Phil Watson (University of Sheffield), have characterised autoantigens, autoantibodies, cytokine gene expression, and genetic susceptibility factors.
Cushing’s disease: I am interested in the potential of siRNA technology and antisense oligonucleotides as treatments for Cushing’s disease. Current collaborators are: Professor John Newell-Price and Professor Richard Ross.
Current Projects
- Characterisation of autoantigens and autoantibody responses in vitiligo.
- Genome-wide association study to identify genetic susceptibility factors in vitiligo.
- Characterisation of calcium-sensing receptor autoantibody responses in autoimmune parathyroid disease.
- Identification of autoantibody responses in melanoma patients.
- Identification of melanocyte autoantigens in alopecia areata.
- Investigation of siRNA and antisense oligonucleotides as treatments for Cushing’s disease.
- Publications
-
Show: Featured publications All publications
Featured publications
Journal articles
- Lessons from prospective longitudinal follow-up of a French APECED cohort. The Journal of Clinical Endocrinology & Metabolism. View this article in WRRO
- Implications of regulatory T cells in anti-cancer immunity: from pathogenesis to therapeutics. Heliyon, 8(8).
- Hypoparathyroidism : genetics and diagnosis. Journal of Bone and Mineral Research.
- Patho-immunological mechanisms of vitiligo: the role of the innate and adaptive immunities and environmental stress factors.. Clinical and Experimental Immunology. View this article in WRRO
- Immunophenotypic analysis reveals differences in circulating immune cells in the peripheral blood of patients with segmental and nonsegmental vitiligo. Journal of Investigative Dermatology.
- Case report: A 10-year-old girl with primary hypoparathyroidism and systemic lupus erythematosus. Journal of Pediatric Endocrinology and Metabolism. View this article in WRRO
- Alemtuzumab-induced halo nevus-like hypopigmentation – New insights into secondary skin autoimmunity in response to an immune cell-depleting antibody. Journal of the European Academy of Dermatology and Venereology. View this article in WRRO
- Calcium-sensing receptor autoantibody-mediated hypoparathyroidism associated with immune checkpoint inhibitor therapy: diagnosis and long-term follow-up. Journal for ImmunoTherapy of Cancer, 8(1). View this article in WRRO
- Pharmacodynamic studies of nasal tetracosactide with salivary glucocorticoids for a non-invasive Short Synacthen Test. Journal of Clinical Endocrinology and Metabolism. View this article in WRRO
- Late-onset postsurgical hypoparathyroidism following parathyroidectomy for recurrent primary hyperparathyroidism: a case report and literature review. Endocrine, 69(2), 402-409. View this article in WRRO
- Autoimmune Hypercalcemia Due to Autoantibodies Against the Calcium-sensing Receptor. The Journal of Clinical Endocrinology & Metabolism, 105(7), 2229-2236. View this article in WRRO
- Activating Antibodies to The Calcium-sensing Receptor in Immunotherapy-induced Hypoparathyroidism. The Journal of Clinical Endocrinology & Metabolism, 105(5), 1581-1588. View this article in WRRO
- Immune Checkpoint Inhibitor-Induced Hypoparathyroidism Associated With Calcium-Sensing Receptor-Activating Autoantibodies. The Journal of Clinical Endocrinology & Metabolism, 104(2), 550-556. View this article in WRRO
- Immunosuppressive therapy of autoimmune hypoparathyroidism in a patient with activating autoantibodies against the calcium-sensing receptor. Clinical Endocrinology, 90(1), 214-221. View this article in WRRO
- Calcium-Sensing Receptor Autoantibodies in Patients with Autoimmune Polyendocrine Syndrome Type 1: Epitopes, Specificity, Functional Affinity, IgG Subclass, and Effects on Receptor Activity. The Journal of Immunology, 201(11), 3175-3183. View this article in WRRO
- Severe Symptomatic Hypocalcemia from HIV Related Hypoparathyroidism. Case Reports in Endocrinology, 2018, 1-4. View this article in WRRO
- International survey on high- and low-dose synacthen test and assessment of accuracy in preparing low-dose synacthen. Clinical Endocrinology, 88(5), 744-751. View this article in WRRO
- Anti-Melanoma immunity and local regression of cutaneous metastases in melanoma patients treated with monobenzone and imiquimod; a phase 2 a trial. OncoImmunology, 7(4), e1419113-e1419113. View this article in WRRO
- Autoantibodies against the calcium-sensing receptor and cytokines in autoimmune polyglandular syndromes types 2, 3 and 4. Clinical Endocrinology, 88(1), 139-145. View this article in WRRO
- Alteration of Immune-Mechanisms by Human Microbiota and Development and Prevention of Human Diseases. Journal of Immunology Research, 2017, 1-2. View this article in WRRO
- Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants. Nature Genetics, 48(11), 1418-1424. View this article in WRRO
- Epidemiology and Health-Related Quality of Life in Hypoparathyroidism in Norway. The Journal of Clinical Endocrinology & Metabolism, 101(8), 3045-3053. View this article in WRRO
- Induction of regulatory T cells: A role for probiotics and prebiotics to suppress autoimmunity. Autoimmunity Reviews, 15(4), 379-392. View this article in WRRO
- IL-14 and IL-16 are expressed in the thyroid of patients with either Graves’ disease or Hashimoto's thyroiditis. Clinical Endocrinology, 83(5), 726-732. View this article in WRRO
- Association between the angiotensin-converting enzyme gene insertion/deletion polymorphism and susceptibility to systemic lupus erythematosus in an Indian population. Scandinavian Journal of Rheumatology, 44(5), 425-427. View this article in WRRO
- Serological proteome analysis reveals new specific biases in the IgM and IgG autoantibody repertoires in autoimmune polyendocrine syndrome type 1. Autoimmunity, 48(8), 532-541. View this article in WRRO
- Early‐onset hypoparathyroidism and chronic keratitis revealing
APECED . Clinical Case Reports, 3(10), 809-813. View this article in WRRO - Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases. Immunity, 42(6), 1185-1196. View this article in WRRO
- PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator–dependent autoimmunity. Journal of Allergy and Clinical Immunology, 135(6), 1578-1588.e5. View this article in WRRO
- Regulatory T cells in vitiligo: Implications for pathogenesis and therapeutics. Autoimmunity Reviews, 14(1), 49-56. View this article in WRRO
- The possible implication of the S250C variant of the autoimmune regulator protein in a patient with autoimmunity and immunodeficiency: in silico analysis suggests a molecular pathogenic mechanism for the variant. Gene, 549(2), 286-294.
- Pendrin and NIS antibodies are absent in healthy individuals and are rare in autoimmune thyroid disease: evidence from a Danish twin study. Clinical Endocrinology, 81(3), 440-444.
- Prevalence and Clinical Associations of Calcium-Sensing Receptor and NALP5 Autoantibodies in Finnish APECED Patients. The Journal of Clinical Endocrinology & Metabolism, 99(3), 1064-1071.
- The antibody response against MART-1 differs in patients with melanoma-associated leucoderma and vitiligo. Pigment Cell & Melanoma Research, 27(6), 1086-1096.
- A Redundant Role of Human Thyroid Peroxidase Propeptide for Cellular, Enzymatic, and Immunological Activity. Thyroid, 24(2), 371-382.
- The angiotensin-converting enzyme gene insertion/deletion polymorphism in Indian patients with vitiligo: a case-control study and meta-analysis. British Journal of Dermatology, 168(6), 1195-1204.
- Vitiligo patients from India (Mumbai) show differences in clinical, demographic and autoantibody profiles compared to patients in western countries. Journal of the European Academy of Dermatology and Venereology, 27(3), 279-286.
- Radiation-induced melanoma-associated leucoderma, systemic antimelanoma immunity and disease-free survival in a patient with advanced-stage melanoma: a case report and immunological analysis. British Journal of Dermatology, 168(4), 733-738.
- Low Frequency of Pendrin Autoantibodies Detected Using a Radioligand Binding Assay in Patients With Autoimmune Thyroid Disease. The Journal of Clinical Endocrinology & Metabolism, 98(2), E309-E313.
- Acquired Hypocalciuric Hypercalcemia in a Patient With CKD. American Journal of Kidney Diseases, 62(6), 1151-1154.
- Graves' Disease, Hypoparathyroidism, Systemic Lupus Erythematosus, Alopecia, and Angioedema: Autoimmune Polyglandular Syndrome Variant or Coincidence?. International Journal of Immunopathology and Pharmacology, 26(1), 217-222.
- Melanocyte antigen-specific antibodies cannot be used as markers for recent disease activity in patients with vitiligo. Journal of the European Academy of Dermatology and Venereology, 27(9), 1172-1175.
- Epitopes, avidity and IgG subclasses of tyrosine hydroxylase autoantibodies in vitiligo and alopecia areata patients. British Journal of Dermatology, 167(1), 17-28.
- Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo. Nature Genetics, 44(6), 676-680. View this article in WRRO
- Demonstration of autoantibodies against tyrosine hydroxylase in patients with alopecia areata. British Journal of Dermatology, 165(6), 1236-1243.
- First report of anti-calcium-sensing receptor antibodies in a patient with Sjogren's syndrome and primary hypoparathyroidism. Rheumatology, 50(6), 1173-1175.
- Autoimmune Hypocalciuric Hypercalcemia Unresponsive to Glucocorticoid Therapy in a Patient with Blocking Autoantibodies against the Calcium-Sensing Receptor. The Journal of Clinical Endocrinology & Metabolism, 96(3), 672-680.
- Comprehensive Association Analysis of Candidate Genes for Generalized Vitiligo Supports XBP1, FOXP3, and TSLP. Journal of Investigative Dermatology, 131(2), 371-381. View this article in WRRO
- Genome-Wide Analysis Identifies a Quantitative Trait Locus in the MHC Class II Region Associated with Generalized Vitiligo Age of Onset. Journal of Investigative Dermatology, 131(6), 1308-1312.
- Autoantibodies against tyrosine hydroxylase in patients with non-segmental (generalised) vitiligo. Experimental Dermatology, 20(1), 35-40.
- Common variants in FOXP1 are associated with generalized vitiligo. Nature Genetics, 42(7), 576-578. View this article in WRRO
- Variant ofTYRand Autoimmunity Susceptibility Loci in Generalized Vitiligo. New England Journal of Medicine, 362(18), 1686-1697. View this article in WRRO
- Autoantigens in vitiligo identified by the serological selection of a phage-displayed melanocyte cDNA expression library.. Journal of Investigative Dermatology, 130(1), 230-240.
- Mapping of human autoantibody binding sites on the calcium-sensing receptor. Journal of Bone and Mineral Research, 25(1), 132-140. View this article in WRRO
- Activating Autoantibodies against the Calcium-Sensing Receptor Detected in Two Patients with Autoimmune Polyendocrine Syndrome Type 1. The Journal of Clinical Endocrinology & Metabolism, 94(12), 4749-4756.
- Melanin-concentrating hormone and melanin-concentrating hormone receptors in mammalian skin physiopathology.. Peptides, 30(11), 2071-2075.
- Mapping of melanin-concentrating hormone receptor 1 B cell epitopes predicts two major binding sites for vitiligo patient autoantibodies.. Experimental Dermatology, 18(5), 454-463.
- Vitiligo following a combined liver-kidney transplant.. Nephrology Dialysis and Transplantation, 24(2), 686-688.
- Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease. European Journal of Human Genetics, 16(8), 977-982.
- Vitiligo pathogenesis: autoimmune disease, genetic defect, excessive reactive oxygen species, calcium imbalance, or what else?. Experimental Dermatology, 17(2), 139-160.
- Vitiligo pathogenesis: autoimmune disease, genetic defect, excessive reactive oxygen species, calcium imbalance, or what else?. Experimental Dermatology, 17(2), 139-140.
- Vitiligo pathogenesis: autoimmune disease, genetic defect, excessive reactive oxygen species, calcium imbalance, or what else? Commentary 1. Experimental Dermatology, 17(2), 150-151.
- The aetiology and pathogenesis of vitiligo: The role of immunological factors. Current Trends in Immunology, 8, 87-101.
- Autoimmunity as an aetiological factor in vitiligo.. Journal of European Academy of Dermatology and Venereology, 21(7), 865-876.
- The calcium-sensing receptor is a target of autoantibodies in patients with autoimmune polyendocrine syndrome type 1.. Journal of Clinical Endocrinology and Metabolism, 92(6), 2107-2114.
- Real-time detection of stress in 3D tissue-engineered constructs using NF-kappaB activation in transiently transfected human dermal fibroblast cells.. Tissue Engineering, 13(5), 1013-1024.
- Autoantibody responses to melanocytes in the depigmenting skin disease vitiligo.. Autoimmun Reviews, 6(3), 138-142.
- Structural insights into autoreactive determinants in thyroid peroxidase composed of discontinuous and multiple key contact amino acid residues contributing to epitopes recognized by patients' autoantibodies.. Endocrinology, 147(12), 5995-6003.
- Function-blocking autoantibodies to the melanin-concentrating hormone receptor in vitiligo patients.. Laboratory Investigation, 86(8), 781-789.
- Analysis of allelic variants in the catalase gene in patients with the skin depigmenting disorder vitiligo.. Biochemical and Biophysical Research Communications, 345(4), 1586-1591.
- The non-synonymous C1858T substitution in the PTPN22 gene is associated with susceptibility to the severe forms of alopecia areata.. Human Immunology, 67(7), 535-539.
- A single-nucleotide polymorphism in the gene encoding lymphoid protein tyrosine phosphatase (PTPN22) confers susceptibility to generalised vitiligo.. Genes and Immunity, 6(7), 584-587.
- An insertion/deletion polymorphism in the gene encoding angiotensin converting enzyme is not associated with generalised vitiligo in an English population.. Arch Dermatol Res, 297(2), 94-98.
- CTLA4 polymorphisms are associated with vitiligo, in patients with concomitant autoimmune diseases. Pigment Cell Research, 18(1), 55-58.
- Autoantibodies as diagnostic and predictive markers of vitiligo.. Autoimmunity, 37(4), 287-290.
- Polymorphisms in the cytotoxic T lymphocyte antigen-4 gene region confer susceptibility to Addison's disease.. J Clin Endocrinol Metab, 89(7), 3474-3476.
- Melanoma cell migration is upregulated by tumour necrosis factor-alpha and suppressed by alpha-melanocyte-stimulating hormone.. Br J Cancer, 90(7), 1457-1463. View this article in WRRO
- alpha-Melanocyte-stimulating hormone, MSH 11-13 KPV and adrenocorticotropic hormone signalling in human keratinocyte cells.. J Invest Dermatol, 122(4), 1010-1019.
- Anti-inflammatory and anti-invasive effects of alpha-melanocyte stimulating hormone in human melanoma cells. Br J Cancer, 89(10), 2004-2015. View this article in WRRO
- Autoantibodies in vitiligo patients recognize multiple domains of the melanin-concentrating hormone receptor.. J Invest Dermatol, 121(4), 765-770.
- Detection and localization of chemokine gene expression in autoimmune thyroid disease.. Clin Endocrinol (Oxf), 59(2), 207-213.
- HLA-G does not have a pathophysiological role in Graves' disease.. J Clin Pathol, 56(6), 475-477.
- Immunoscreening of phage-displayed cDNA-encoded polypeptides identifies B cell targets in autoimmune disease.. Biochem Biophys Res Commun, 298(1), 169-177.
- Autoantibodies in vitiligo patients are not directed to the melanocyte differentiation antigen MelanA/MART1.. Clin Exp Immunol, 129(3), 527-532.
- The melanin-concentrating hormone receptor 1, a novel target of autoantibody responses in vitiligo.. J Clin Invest, 109(7), 923-930.
- Inhibition of tumor necrosis factor-alpha stimulated NFkappaB/p65 in human keratinocytes by alpha-melanocyte stimulating hormone and adrenocorticotropic hormone peptides.. J Invest Dermatol, 119(6), 1244-1253.
- Autoimmune aspects of vitiligo.. Autoimmunity, 34(1), 65-77.
- Immunological pathomechanisms in vitiligo.. Expert Rev Mol Med, 3(20), 1-22.
- Molecular mapping of epitopes on melanocyte-specific protein Pmel17 which are recognized by autoantibodies in patients with vitiligo.. Clin Exp Immunol, 124(3), 509-515.
- Identification of antigenic domains on the human sodium-iodide symporter which are recognized by autoantibodies from patients with autoimmune thyroid disease.. Clin Exp Immunol, 124(3), 377-385.
- The transcription factors SOX9 and SOX10 are vitiligo autoantigens in autoimmune polyendocrine syndrome type I.. J Biol Chem, 276(38), 35390-35395.
- Is there loss or qualitative changes in the expression of thyroid peroxidase protein in thyroid epithelial cancer?. Br J Cancer, 85(6), 875-880. View this article in WRRO
- Localization of GerAA and GerAC germination proteins in the Bacillus subtilis spore.. J Bacteriol, 183(14), 4317-4322.
- Autoantibodies to the flavoprotein subunit of succinate dehydrogenase: analysis of specificity in autoimmune thyroid disease.. Clin Endocrinol (Oxf), 53(3), 291-299.
- Detection of binding and blocking autoantibodies to the human sodium-iodide symporter in patients with autoimmune thyroid disease.. J Clin Endocrinol Metab, 85(5), 2020-2027.
- Association analysis of the cytotoxic T lymphocyte antigen-4 (CTLA-4) and autoimmune regulator-1 (AIRE-1) genes in sporadic autoimmune Addison's disease.. J Clin Endocrinol Metab, 85(2), 688-691.
- Analysis of a microsatellite polymorphism of the cytotoxic T-lymphocyte antigen-4 gene in patients with vitiligo.. Br J Dermatol, 140(1), 73-78.
- Identification of epitopes on tyrosinase which are recognized by autoantibodies from patients with vitiligo.. J Invest Dermatol, 113(2), 267-271.
- Autoantibodies to tyrosinase-related protein-1 detected in the sera of vitiligo patients using a quantitative radiobinding assay.. Br J Dermatol, 139(5), 798-805.
- Autoantibodies to human melanocyte-specific protein pmel17 in the sera of vitiligo patients: a sensitive and quantitative radioimmunoassay (RIA).. Clin Exp Immunol, 114(3), 333-338.
- A cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphism is associated with autoimmune Addison's disease in English patients.. Clin Endocrinol (Oxf), 49(5), 609-613.
- Immunoprecipitation of melanogenic enzyme autoantigens with vitiligo sera: evidence for cross-reactive autoantibodies to tyrosinase and tyrosinase-related protein-2 (TRP-2).. Clin Exp Immunol, 109(3), 495-500.
- Immunoglobulin G kappa antithyroid peroxidase antibodies in Hashimoto's thyroiditis: epitope-mapping analysis.. J Clin Endocrinol Metab, 82(8), 2639-2644.
- Analysis of immunoglobulin G kappa antithyroid peroxidase antibodies from different tissues in Hashimoto's thyroiditis.. J Clin Endocrinol Metab, 82(11), 3818-3825.
- Detection of tyrosinase autoantibodies in patients with vitiligo using 35S-labeled recombinant human tyrosinase in a radioimmunoassay.. J Invest Dermatol, 109(1), 69-73.
- Cloning and analysis of IgG kappa and IgG lambda anti-thyroglobulin autoantibodies from a patient with Hashimoto's thyroiditis: evidence for in vivo antigen-driven repertoire selection.. J Immunol, 157(2), 927-935.
- Analysis of transcriptional control of the gerD spore germination gene of Bacillus subtilis 168.. J Bacteriol, 173(15), 4646-4652.
- Spore germination genes of Bacillus subtilis 168.. Res Microbiol, 142(7-8), 847-850.
- Complete nucleotide sequence and deduced amino acid sequence of the M5 polypeptide gene of Escherichia coli K12. Nucleic Acids Res, 15, 3924-3924.
- Development of a 3D human in vitro skin co-culture model for detecting irritants in real-time. Biotechnology and Bioengineering, 106(5), 794-803.
Chapters
- Microorganisms in Pathogenesis and Management of Vitiligo, Role of Microorganisms in Pathogenesis and Management of Autoimmune Diseases (pp. 189-223). Springer Nature Singapore
- Autoimmune hypoparathyroidism In Brandi ML & Brown EM (Ed.), Hypoparathyroidism (pp. 177-188). Milan, Italy: Springer-Verlag Italia.
- Vitiligo: A complex autoimmune skin depigmenting disease In Chatzidionysiou K (Ed.), Autoimmune Diseases - Pathogenesis, Clinical Aspects and Therapy of Specific Autoimmune Diseases (pp. 153-173). Rijeka, Croatia: InTech.
- Autoimmunity in vitiligo In Mavragani C (Ed.), Autoimmune Disorders - Pathogenic Aspects (pp. 271-294). Rijeka, Croatia: InTech.
- Humoral immunity In Picardo M & Taïeb A (Ed.), Vitiligo (pp. 248-256). Heidelberg, Germany: Springer.
- Cytotoxic T lymphocyte antigen-4 in autoimmune thyroid disease and vitiligo In Pociot F (Ed.), CTLA-4 in Autoimmune Disease (pp. 45-54). Austin, Texas, USA: Eurekah.Com Inc.
- Orbital autoantigens In Bahn RS (Ed.), Thyroid Eye Disease (pp. 1-20). Dordrecht, The Netherlands: Springer.
All publications
Books
- Role of Microorganisms in Pathogenesis and Management of Autoimmune Diseases. Springer Nature Singapore.
- Role of Microorganisms in Pathogenesis and Management of Autoimmune Diseases. Springer Nature Singapore.
- Probiotics in the Prevention and Management of Human Diseases. Elsevier.
Journal articles
- Lessons from prospective longitudinal follow-up of a French APECED cohort. The Journal of Clinical Endocrinology & Metabolism. View this article in WRRO
- Preface. Role of Microorganisms in Pathogenesis and Management of Autoimmune Diseases: Volume II: Kidney, Central Nervous System, Eye, Blood, Blood Vessels and Bowel, 2, vii.
- Implications of regulatory T cells in anti-cancer immunity: from pathogenesis to therapeutics. Heliyon, 8(8).
- Hypoparathyroidism : genetics and diagnosis. Journal of Bone and Mineral Research.
- Patho-immunological mechanisms of vitiligo: the role of the innate and adaptive immunities and environmental stress factors.. Clinical and Experimental Immunology. View this article in WRRO
- Preface, xix-xix.
- Preface. Role of Microorganisms in Pathogenesis and Management of Autoimmune Diseases: Volume I: Liver, Skin, Thyroid, Rheumatic and Myopathic Diseases, xi.
- Immunophenotypic analysis reveals differences in circulating immune cells in the peripheral blood of patients with segmental and nonsegmental vitiligo. Journal of Investigative Dermatology.
- Antisense Oligonucleotides as a Novel Therapy for Cushing’s Disease. Journal of the Endocrine Society, 5(Suppl 1), a532-a533.
- Patho-immunological mechanisms of vitiligo: an integration of the immunogenetic milieu, with innate and adaptive immunities, as triggered by environmental stress factors.
- Case report: A 10-year-old girl with primary hypoparathyroidism and systemic lupus erythematosus. Journal of Pediatric Endocrinology and Metabolism. View this article in WRRO
- Alemtuzumab-induced halo nevus-like hypopigmentation – New insights into secondary skin autoimmunity in response to an immune cell-depleting antibody. Journal of the European Academy of Dermatology and Venereology. View this article in WRRO
- Calcium-sensing receptor autoantibody-mediated hypoparathyroidism associated with immune checkpoint inhibitor therapy: diagnosis and long-term follow-up. Journal for ImmunoTherapy of Cancer, 8(1). View this article in WRRO
- Pharmacodynamic studies of nasal tetracosactide with salivary glucocorticoids for a non-invasive Short Synacthen Test. Journal of Clinical Endocrinology and Metabolism. View this article in WRRO
- Late-onset postsurgical hypoparathyroidism following parathyroidectomy for recurrent primary hyperparathyroidism: a case report and literature review. Endocrine, 69(2), 402-409. View this article in WRRO
- Autoimmune Hypercalcemia Due to Autoantibodies Against the Calcium-sensing Receptor. The Journal of Clinical Endocrinology & Metabolism, 105(7), 2229-2236. View this article in WRRO
- Activating Antibodies to The Calcium-sensing Receptor in Immunotherapy-induced Hypoparathyroidism. The Journal of Clinical Endocrinology & Metabolism, 105(5), 1581-1588. View this article in WRRO
- SUN-040 Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED) Syndrome: Prospective Screening of Asplenism and Pneumonitis in a Cohort of 25 Patients. Journal of the Endocrine Society, 3(Supplement_1).
- Immune Checkpoint Inhibitor-Induced Hypoparathyroidism Associated With Calcium-Sensing Receptor-Activating Autoantibodies. The Journal of Clinical Endocrinology & Metabolism, 104(2), 550-556. View this article in WRRO
- Immunosuppressive therapy of autoimmune hypoparathyroidism in a patient with activating autoantibodies against the calcium-sensing receptor. Clinical Endocrinology, 90(1), 214-221. View this article in WRRO
- Calcium-Sensing Receptor Autoantibodies in Patients with Autoimmune Polyendocrine Syndrome Type 1: Epitopes, Specificity, Functional Affinity, IgG Subclass, and Effects on Receptor Activity. The Journal of Immunology, 201(11), 3175-3183. View this article in WRRO
- Severe Symptomatic Hypocalcemia from HIV Related Hypoparathyroidism. Case Reports in Endocrinology, 2018, 1-4. View this article in WRRO
- International survey on high- and low-dose synacthen test and assessment of accuracy in preparing low-dose synacthen. Clinical Endocrinology, 88(5), 744-751. View this article in WRRO
- Anti-Melanoma immunity and local regression of cutaneous metastases in melanoma patients treated with monobenzone and imiquimod; a phase 2 a trial. OncoImmunology, 7(4), e1419113-e1419113. View this article in WRRO
- Autoantibodies against the calcium-sensing receptor and cytokines in autoimmune polyglandular syndromes types 2, 3 and 4. Clinical Endocrinology, 88(1), 139-145. View this article in WRRO
- Alteration of Immune-Mechanisms by Human Microbiota and Development and Prevention of Human Diseases. Journal of Immunology Research, 2017, 1-2. View this article in WRRO
- Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants. Nature Genetics, 48(11), 1418-1424. View this article in WRRO
- Epidemiology and Health-Related Quality of Life in Hypoparathyroidism in Norway. The Journal of Clinical Endocrinology & Metabolism, 101(8), 3045-3053. View this article in WRRO
- Induction of regulatory T cells: A role for probiotics and prebiotics to suppress autoimmunity. Autoimmunity Reviews, 15(4), 379-392. View this article in WRRO
- IL-14 and IL-16 are expressed in the thyroid of patients with either Graves’ disease or Hashimoto's thyroiditis. Clinical Endocrinology, 83(5), 726-732. View this article in WRRO
- Association between the angiotensin-converting enzyme gene insertion/deletion polymorphism and susceptibility to systemic lupus erythematosus in an Indian population. Scandinavian Journal of Rheumatology, 44(5), 425-427. View this article in WRRO
- Serological proteome analysis reveals new specific biases in the IgM and IgG autoantibody repertoires in autoimmune polyendocrine syndrome type 1. Autoimmunity, 48(8), 532-541. View this article in WRRO
- Early‐onset hypoparathyroidism and chronic keratitis revealing
APECED . Clinical Case Reports, 3(10), 809-813. View this article in WRRO - Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases. Immunity, 42(6), 1185-1196. View this article in WRRO
- PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator–dependent autoimmunity. Journal of Allergy and Clinical Immunology, 135(6), 1578-1588.e5. View this article in WRRO
- Regulatory T cells in vitiligo: Implications for pathogenesis and therapeutics. Autoimmunity Reviews, 14(1), 49-56. View this article in WRRO
- The possible implication of the S250C variant of the autoimmune regulator protein in a patient with autoimmunity and immunodeficiency: in silico analysis suggests a molecular pathogenic mechanism for the variant. Gene, 549(2), 286-294.
- Pendrin and NIS antibodies are absent in healthy individuals and are rare in autoimmune thyroid disease: evidence from a Danish twin study. Clinical Endocrinology, 81(3), 440-444.
- Prevalence and Clinical Associations of Calcium-Sensing Receptor and NALP5 Autoantibodies in Finnish APECED Patients. The Journal of Clinical Endocrinology & Metabolism, 99(3), 1064-1071.
- The antibody response against MART-1 differs in patients with melanoma-associated leucoderma and vitiligo. Pigment Cell & Melanoma Research, 27(6), 1086-1096.
- A Redundant Role of Human Thyroid Peroxidase Propeptide for Cellular, Enzymatic, and Immunological Activity. Thyroid, 24(2), 371-382.
- The angiotensin-converting enzyme gene insertion/deletion polymorphism in Indian patients with vitiligo: a case-control study and meta-analysis. British Journal of Dermatology, 168(6), 1195-1204.
- Vitiligo patients from India (Mumbai) show differences in clinical, demographic and autoantibody profiles compared to patients in western countries. Journal of the European Academy of Dermatology and Venereology, 27(3), 279-286.
- Radiation-induced melanoma-associated leucoderma, systemic antimelanoma immunity and disease-free survival in a patient with advanced-stage melanoma: a case report and immunological analysis. British Journal of Dermatology, 168(4), 733-738.
- Low Frequency of Pendrin Autoantibodies Detected Using a Radioligand Binding Assay in Patients With Autoimmune Thyroid Disease. The Journal of Clinical Endocrinology & Metabolism, 98(2), E309-E313.
- Acquired Hypocalciuric Hypercalcemia in a Patient With CKD. American Journal of Kidney Diseases, 62(6), 1151-1154.
- Graves' Disease, Hypoparathyroidism, Systemic Lupus Erythematosus, Alopecia, and Angioedema: Autoimmune Polyglandular Syndrome Variant or Coincidence?. International Journal of Immunopathology and Pharmacology, 26(1), 217-222.
- Melanocyte antigen-specific antibodies cannot be used as markers for recent disease activity in patients with vitiligo. Journal of the European Academy of Dermatology and Venereology, 27(9), 1172-1175.
- Epitopes, avidity and IgG subclasses of tyrosine hydroxylase autoantibodies in vitiligo and alopecia areata patients. British Journal of Dermatology, 167(1), 17-28.
- Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo. Nature Genetics, 44(6), 676-680. View this article in WRRO
- Demonstration of autoantibodies against tyrosine hydroxylase in patients with alopecia areata. British Journal of Dermatology, 165(6), 1236-1243.
- First report of anti-calcium-sensing receptor antibodies in a patient with Sjogren's syndrome and primary hypoparathyroidism. Rheumatology, 50(6), 1173-1175.
- Autoimmune Hypocalciuric Hypercalcemia Unresponsive to Glucocorticoid Therapy in a Patient with Blocking Autoantibodies against the Calcium-Sensing Receptor. The Journal of Clinical Endocrinology & Metabolism, 96(3), 672-680.
- Comprehensive Association Analysis of Candidate Genes for Generalized Vitiligo Supports XBP1, FOXP3, and TSLP. Journal of Investigative Dermatology, 131(2), 371-381. View this article in WRRO
- Genome-Wide Analysis Identifies a Quantitative Trait Locus in the MHC Class II Region Associated with Generalized Vitiligo Age of Onset. Journal of Investigative Dermatology, 131(6), 1308-1312.
- Autoantibodies against tyrosine hydroxylase in patients with non-segmental (generalised) vitiligo. Experimental Dermatology, 20(1), 35-40.
- Common variants in FOXP1 are associated with generalized vitiligo. Nature Genetics, 42(7), 576-578. View this article in WRRO
- Variant ofTYRand Autoimmunity Susceptibility Loci in Generalized Vitiligo. New England Journal of Medicine, 362(18), 1686-1697. View this article in WRRO
- Autoantigens in vitiligo identified by the serological selection of a phage-displayed melanocyte cDNA expression library.. Journal of Investigative Dermatology, 130(1), 230-240.
- Mapping of human autoantibody binding sites on the calcium-sensing receptor. Journal of Bone and Mineral Research, 25(1), 132-140. View this article in WRRO
- Activating Autoantibodies against the Calcium-Sensing Receptor Detected in Two Patients with Autoimmune Polyendocrine Syndrome Type 1. The Journal of Clinical Endocrinology & Metabolism, 94(12), 4749-4756.
- Melanin-concentrating hormone and melanin-concentrating hormone receptors in mammalian skin physiopathology.. Peptides, 30(11), 2071-2075.
- Mapping of melanin-concentrating hormone receptor 1 B cell epitopes predicts two major binding sites for vitiligo patient autoantibodies.. Experimental Dermatology, 18(5), 454-463.
- Vitiligo following a combined liver-kidney transplant.. Nephrology Dialysis and Transplantation, 24(2), 686-688.
- Mutation screening of PTPN22: association of the 1858T-allele with Addison's disease. European Journal of Human Genetics, 16(8), 977-982.
- Vitiligo pathogenesis: autoimmune disease, genetic defect, excessive reactive oxygen species, calcium imbalance, or what else?. Experimental Dermatology, 17(2), 139-160.
- Vitiligo pathogenesis: autoimmune disease, genetic defect, excessive reactive oxygen species, calcium imbalance, or what else?. Experimental Dermatology, 17(2), 139-140.
- Vitiligo pathogenesis: autoimmune disease, genetic defect, excessive reactive oxygen species, calcium imbalance, or what else? Commentary 1. Experimental Dermatology, 17(2), 150-151.
- Commentary 1. Experimental Dermatology, 17(2), 150-151.
- The aetiology and pathogenesis of vitiligo: The role of immunological factors. Current Trends in Immunology, 8, 87-101.
- Autoimmunity as an aetiological factor in vitiligo.. Journal of European Academy of Dermatology and Venereology, 21(7), 865-876.
- The calcium-sensing receptor is a target of autoantibodies in patients with autoimmune polyendocrine syndrome type 1.. Journal of Clinical Endocrinology and Metabolism, 92(6), 2107-2114.
- Real-time detection of stress in 3D tissue-engineered constructs using NF-kappaB activation in transiently transfected human dermal fibroblast cells.. Tissue Engineering, 13(5), 1013-1024.
- Autoantibody responses to melanocytes in the depigmenting skin disease vitiligo.. Autoimmun Reviews, 6(3), 138-142.
- Structural insights into autoreactive determinants in thyroid peroxidase composed of discontinuous and multiple key contact amino acid residues contributing to epitopes recognized by patients' autoantibodies.. Endocrinology, 147(12), 5995-6003.
- Function-blocking autoantibodies to the melanin-concentrating hormone receptor in vitiligo patients.. Laboratory Investigation, 86(8), 781-789.
- Analysis of allelic variants in the catalase gene in patients with the skin depigmenting disorder vitiligo.. Biochemical and Biophysical Research Communications, 345(4), 1586-1591.
- The non-synonymous C1858T substitution in the PTPN22 gene is associated with susceptibility to the severe forms of alopecia areata.. Human Immunology, 67(7), 535-539.
- A single-nucleotide polymorphism in the gene encoding lymphoid protein tyrosine phosphatase (PTPN22) confers susceptibility to generalised vitiligo.. Genes and Immunity, 6(7), 584-587.
- An insertion/deletion polymorphism in the gene encoding angiotensin converting enzyme is not associated with generalised vitiligo in an English population.. Arch Dermatol Res, 297(2), 94-98.
- CTLA4 polymorphisms are associated with vitiligo, in patients with concomitant autoimmune diseases. Pigment Cell Research, 18(1), 55-58.
- Autoantibodies as diagnostic and predictive markers of vitiligo.. Autoimmunity, 37(4), 287-290.
- Polymorphisms in the cytotoxic T lymphocyte antigen-4 gene region confer susceptibility to Addison's disease.. J Clin Endocrinol Metab, 89(7), 3474-3476.
- Melanoma cell migration is upregulated by tumour necrosis factor-alpha and suppressed by alpha-melanocyte-stimulating hormone.. Br J Cancer, 90(7), 1457-1463. View this article in WRRO
- alpha-Melanocyte-stimulating hormone, MSH 11-13 KPV and adrenocorticotropic hormone signalling in human keratinocyte cells.. J Invest Dermatol, 122(4), 1010-1019.
- Anti-inflammatory and anti-invasive effects of alpha-melanocyte stimulating hormone in human melanoma cells. Br J Cancer, 89(10), 2004-2015. View this article in WRRO
- Autoantibodies in vitiligo patients recognize multiple domains of the melanin-concentrating hormone receptor.. J Invest Dermatol, 121(4), 765-770.
- Detection and localization of chemokine gene expression in autoimmune thyroid disease.. Clin Endocrinol (Oxf), 59(2), 207-213.
- HLA-G does not have a pathophysiological role in Graves' disease.. J Clin Pathol, 56(6), 475-477.
- Immunoscreening of phage-displayed cDNA-encoded polypeptides identifies B cell targets in autoimmune disease.. Biochem Biophys Res Commun, 298(1), 169-177.
- Autoantibodies in vitiligo patients are not directed to the melanocyte differentiation antigen MelanA/MART1.. Clin Exp Immunol, 129(3), 527-532.
- The melanin-concentrating hormone receptor 1, a novel target of autoantibody responses in vitiligo.. J Clin Invest, 109(7), 923-930.
- Inhibition of tumor necrosis factor-alpha stimulated NFkappaB/p65 in human keratinocytes by alpha-melanocyte stimulating hormone and adrenocorticotropic hormone peptides.. J Invest Dermatol, 119(6), 1244-1253.
- Autoimmune aspects of vitiligo.. Autoimmunity, 34(1), 65-77.
- Immunological pathomechanisms in vitiligo.. Expert Rev Mol Med, 3(20), 1-22.
- Molecular mapping of epitopes on melanocyte-specific protein Pmel17 which are recognized by autoantibodies in patients with vitiligo.. Clin Exp Immunol, 124(3), 509-515.
- Identification of antigenic domains on the human sodium-iodide symporter which are recognized by autoantibodies from patients with autoimmune thyroid disease.. Clin Exp Immunol, 124(3), 377-385.
- The transcription factors SOX9 and SOX10 are vitiligo autoantigens in autoimmune polyendocrine syndrome type I.. J Biol Chem, 276(38), 35390-35395.
- Is there loss or qualitative changes in the expression of thyroid peroxidase protein in thyroid epithelial cancer?. Br J Cancer, 85(6), 875-880. View this article in WRRO
- Localization of GerAA and GerAC germination proteins in the Bacillus subtilis spore.. J Bacteriol, 183(14), 4317-4322.
- Autoantibodies to the flavoprotein subunit of succinate dehydrogenase: analysis of specificity in autoimmune thyroid disease.. Clin Endocrinol (Oxf), 53(3), 291-299.
- Detection of binding and blocking autoantibodies to the human sodium-iodide symporter in patients with autoimmune thyroid disease.. J Clin Endocrinol Metab, 85(5), 2020-2027.
- Association analysis of the cytotoxic T lymphocyte antigen-4 (CTLA-4) and autoimmune regulator-1 (AIRE-1) genes in sporadic autoimmune Addison's disease.. J Clin Endocrinol Metab, 85(2), 688-691.
- Analysis of a microsatellite polymorphism of the cytotoxic T-lymphocyte antigen-4 gene in patients with vitiligo.. Br J Dermatol, 140(1), 73-78.
- Identification of epitopes on tyrosinase which are recognized by autoantibodies from patients with vitiligo.. J Invest Dermatol, 113(2), 267-271.
- Autoantibodies to tyrosinase-related protein-1 detected in the sera of vitiligo patients using a quantitative radiobinding assay.. Br J Dermatol, 139(5), 798-805.
- Autoantibodies to human melanocyte-specific protein pmel17 in the sera of vitiligo patients: a sensitive and quantitative radioimmunoassay (RIA).. Clin Exp Immunol, 114(3), 333-338.
- A cytotoxic T lymphocyte antigen-4 (CTLA-4) gene polymorphism is associated with autoimmune Addison's disease in English patients.. Clin Endocrinol (Oxf), 49(5), 609-613.
- Immunoprecipitation of melanogenic enzyme autoantigens with vitiligo sera: evidence for cross-reactive autoantibodies to tyrosinase and tyrosinase-related protein-2 (TRP-2).. Clin Exp Immunol, 109(3), 495-500.
- Immunoglobulin G kappa antithyroid peroxidase antibodies in Hashimoto's thyroiditis: epitope-mapping analysis.. J Clin Endocrinol Metab, 82(8), 2639-2644.
- Analysis of immunoglobulin G kappa antithyroid peroxidase antibodies from different tissues in Hashimoto's thyroiditis.. J Clin Endocrinol Metab, 82(11), 3818-3825.
- Detection of tyrosinase autoantibodies in patients with vitiligo using 35S-labeled recombinant human tyrosinase in a radioimmunoassay.. J Invest Dermatol, 109(1), 69-73.
- Cloning and analysis of IgG kappa and IgG lambda anti-thyroglobulin autoantibodies from a patient with Hashimoto's thyroiditis: evidence for in vivo antigen-driven repertoire selection.. J Immunol, 157(2), 927-935.
- Analysis of transcriptional control of the gerD spore germination gene of Bacillus subtilis 168.. J Bacteriol, 173(15), 4646-4652.
- Spore germination genes of Bacillus subtilis 168.. Res Microbiol, 142(7-8), 847-850.
- Complete nucleotide sequence and deduced amino acid sequence of the M5 polypeptide gene of Escherichia coli K12. Nucleic Acids Res, 15, 3924-3924.
- Development of a 3D human in vitro skin co-culture model for detecting irritants in real-time. Biotechnology and Bioengineering, 106(5), 794-803.
Chapters
- Microorganisms in Pathogenesis and Management of Vitiligo, Role of Microorganisms in Pathogenesis and Management of Autoimmune Diseases (pp. 189-223). Springer Nature Singapore
- Preface, Probiotics in the Prevention and Management of Human Diseases (pp. xix). Elsevier
- Autoimmune hypoparathyroidism In Brandi ML & Brown EM (Ed.), Hypoparathyroidism (pp. 177-188). Milan, Italy: Springer-Verlag Italia.
- Vitiligo: A complex autoimmune skin depigmenting disease In Chatzidionysiou K (Ed.), Autoimmune Diseases - Pathogenesis, Clinical Aspects and Therapy of Specific Autoimmune Diseases (pp. 153-173). Rijeka, Croatia: InTech.
- Autoimmunity in vitiligo In Mavragani C (Ed.), Autoimmune Disorders - Pathogenic Aspects (pp. 271-294). Rijeka, Croatia: InTech.
- Humoral immunity In Picardo M & Taïeb A (Ed.), Vitiligo (pp. 248-256). Heidelberg, Germany: Springer.
- Cytotoxic T lymphocyte antigen-4 in autoimmune thyroid disease and vitiligo In Pociot F (Ed.), CTLA-4 in Autoimmune Disease (pp. 45-54). Austin, Texas, USA: Eurekah.Com Inc.
- Orbital autoantigens In Bahn RS (Ed.), Thyroid Eye Disease (pp. 1-20). Dordrecht, The Netherlands: Springer.
Conference proceedings papers
- Immunophenotypic analysis reveals differences in circulating immune cells in peripheral blood of segmental and non-segmental vitiligo patients. EUROPEAN JOURNAL OF IMMUNOLOGY, Vol. 51 (pp 355-355)
- The genetic analysis of bacterial spore germination.. J Appl Bacteriol, Vol. 77(3) (pp 9S-16S). England
Reports
- Tumour necrosis factor-α antagonists as therapies for vitiligo View this article in WRRO
- The CC genotype of the ERCC 1 C118T single‐nucleotide polymorphism impacts positively on the efficacy of narrowband ultraviolet B therapy for vitiligo View this article in WRRO
- Programmed death 1 expressing regulatory T cells in vitiligo View this article in WRRO
- Antithyroid hormone autoantibodies in vitiligo
- Autologous cultured melanocytes in vitiligo treatment - Commentary
- Profiling autoantibody responses in vitiligo
- Commentary: Autologous cultured melanocytes in vitiligo treatment
- A receptor targeted by autoantibodies in vitiligo
- Teaching activities
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I am primary supervisor of MD, PhD, and intercalating students. I contribute to the MSc in Molecular Medicine and the MBChB degree course
- Professional activities and memberships
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British Journal of Dermatology, Section Editor, 2007-2014.
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Dermatology Research and Practice, Editorial Board, 2010-2021.
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Journal of Dermatological Research, Editorial Board, 2016-present.
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Antibodies, Editorial Board, 2020-present.
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Vitiligo Society Scientific and Medical Advisory Board Member, 2018-2021.
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UK Translational Research Network in Dermatology (UK TREND), Member, 2014-present.
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British Skin Foundation Large Grants Advisory Committee, 2010-2014.
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British Skin Foundation Small Grants Advisory Committee, 2020-2022.
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European Cooperation in Science and Technology (COST) Grants, External Expert Panel Member, 2012.
Member of Learned Societies:
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British Society for Immunology
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British Society for Investigative Dermatology
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European Society for Dermatological Research
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Society for Endocrinology
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European Society for Pigment Cell Research
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Royal Society of Biology
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European Society of Endocrinology
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Endocrine Society
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