Affiliation: University of Cambridge
- What should be done when thyroid function tests do not make sense?Mark Gurnell
Metabolic Research Laboratories, Institute of Metabolic Science, Addenbrooke s Hospital, University of Cambridge, Cambridge, UK
Clin Endocrinol (Oxf) 74:673-8. 2011..Here, focusing particularly on the combination of hyperthyroxinaemia with nonsuppressed thyrotropin, we show how a structured approach to investigation can help make sense of atypical TFTs...
- An adult female with resistance to thyroid hormone mediated by defective thyroid hormone receptor αCarla Moran
University of Cambridge, Metabolic Research Laboratories, Institute of Metabolic Science, Level 4, Box 289, Addenbrooke s Hospital, Cambridge, CB2 0QQ, United Kingdom
J Clin Endocrinol Metab 98:4254-61. 2013..The first human cases (female, age 6 y; father and daughter, ages 47 and 11 y, respectively) with growth retardation/short stature, skeletal dysplasia, constipation, and defective thyroid receptor α (TRα) have been recently described...
- A comprehensive study of clinical, biochemical, radiological, vascular, cardiac, and sleep parameters in an unselected cohort of patients with acromegaly undergoing presurgical somatostatin receptor ligand therapyAnand K Annamalai
Metabolic Research Laboratories, Institute of Metabolic Science, University of Cambridge, Box 289, Addenbrooke s Hospital, Hills Road, Cambridge CB2 0QQ, United Kingdom
J Clin Endocrinol Metab 98:1040-50. 2013..However, responses vary considerably between individuals, and attainment of biochemical control cannot be assumed to equate to universal complication control...
- Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humansErik Schoenmakers
Institute of Metabolic Science, University of Cambridge, Cambridge, UK
J Clin Invest 120:4220-35. 2010..Thus, mutation of SECISBP2 is associated with a multisystem disorder with defective biosynthesis of many selenoproteins, highlighting their role in diverse biological processes...
- From molecule to market: steroid hormones and financial risk-takingJohn M Coates
Judge Business School, University of Cambridge, Cambridge CB2 1AG, UK
Philos Trans R Soc Lond B Biol Sci 365:331-43. 2010..If hormones can exaggerate market moves, then perhaps the age and sex composition among traders and asset managers may affect the level of instability witnessed in the financial markets...
- Second-to-fourth digit ratio predicts success among high-frequency financial tradersJohn M Coates
Department of Physiology, Development, and Neuroscience, University of Cambridge, Cambridge CB2 3DY, United Kingdom
Proc Natl Acad Sci U S A 106:623-8. 2009..The success and longevity of traders exposed to high levels of prenatal androgens further suggests that financial markets may select for biological traits rather than rational expectations...
- Digenic inheritance of severe insulin resistance in a human pedigreeDavid B Savage
Department of Clinical Biochemistry, University of Cambridge, Addenbrooke s Hospital, Hills Road, Cambridge CB2 2QQ, UK
Nat Genet 31:379-84. 2002....
- Peroxisome proliferator-activated receptor gamma and the regulation of adipocyte function: lessons from human genetic studiesMark Gurnell
Department of Medicine, University of Cambridge, Addenbrooke s Hospital, Hills Road, UK
Best Pract Res Clin Endocrinol Metab 19:501-23. 2005....
- PPARgamma and metabolism: insights from the study of human genetic variantsMark Gurnell
Department of Medicine, University of Cambridge, Addenbrooke s Hospital, Cambridge, UK
Clin Endocrinol (Oxf) 59:267-77. 2003..This review highlights recent studies which have advanced our understanding of the pivotal role that this receptor plays in metabolism, with particular reference to the consequences of inherited variation in the human receptor gene...
- The metabolic syndrome: peroxisome proliferator-activated receptor gamma and its therapeutic modulationMark Gurnell
Department of Medicine, University of Cambridge, Addenbrooke s Hospital, Cambridge CB2 2QQ, United Kingdom
J Clin Endocrinol Metab 88:2412-21. 2003..These studies provide further support for the future development of more selective receptor modulators, targeting specific pathways to ameliorate facets of the metabolic syndrome...
- Resistance to thyroid hormone mediated by defective thyroid hormone receptor alphaNadia Schoenmakers
Institute of Metabolic Science, University of Cambridge, UK
Biochim Biophys Acta 1830:4004-8. 2013..THRB mutations cause a disorder with central (hypothalamic-pituitary) resistance to thyroid hormone action with markedly elevated thyroid hormone and normal TSH levels...
- Human metabolic syndrome resulting from dominant-negative mutations in the nuclear receptor peroxisome proliferator-activated receptor-gammaDavid B Savage
Department of Medicine, Addenbrooke s Hospital, Cambridge, UK
Diabetes 52:910-7. 2003..Although the condition is rare, the study of humans with dominant-negative mutations in PPAR-gamma can provide important insight into the roles of this nuclear receptor in human metabolism...
- Pitfalls in the measurement and interpretation of thyroid function testsOlympia Koulouri
Metabolic Research Laboratories, Wellcome Trust MRC Institute of Metabolic Science, University of Cambridge and National Institute for Health Research Cambridge Biomedical Research Centre, Addenbrooke s Hospital, Cambridge CB2 0QQ, UK
Best Pract Res Clin Endocrinol Metab 27:745-62. 2013..Here, we discuss the main pitfalls in the measurement and interpretation of TFTs, and propose a structured algorithm for the investigation and management of patients with anomalous/discordant TFTs...
- Maternal isodisomy for chromosome 9 causing homozygosity for a novel FOXE1 mutation in syndromic congenital hypothyroidismMireille Castanet
University of Cambridge, Metabolic Research Laboratories, Institute of Metabolic Science, Department of Medicine, Level 4, Box 289, Addenbrooke s Hospital, Cambridge CB2 0QQ, United Kingdom
J Clin Endocrinol Metab 95:4031-6. 2010..We have elucidated the molecular basis of the disorder in a female with a similar clinical phenotype, born to nonconsanguineous parents...
- Tyrosine agonists reverse the molecular defects associated with dominant-negative mutations in human peroxisome proliferator-activated receptor gammaMaura Agostini
Department of Medicine, University of Cambridge, Addenbrooke s Hospital, United Kingdom
Endocrinology 145:1527-38. 2004..Having shown that rosiglitazone is of variable and limited efficacy in these subjects, we suggest that TAs may represent a more rational therapeutic approach...
- Non-DNA binding, dominant-negative, human PPARgamma mutations cause lipodystrophic insulin resistanceMaura Agostini
Department of Medicine, University of Cambridge, United Kingdom
Cell Metab 4:303-11. 2006..Our observations suggest that these mutants restrict wild-type PPARgamma action via a non-DNA binding, transcriptional interference mechanism, which may involve sequestration of functionally limiting coactivators...
- Increased prevalence of gallbladder polyps in acromegalyAnand K Annamalai
Institute of Metabolic ScienceAddenbrooke s Hospital, Cambridge University Hospitals National Health Service Foundation Trust, University of Cambridge, Addenbrooke s Hospital, CB2 0QQ Cambridge, United Kingdom
J Clin Endocrinol Metab 96:E1120-5. 2011..The gallbladder's epithelial similarity to the colon raises the possibility that gallbladder polyps (GBP) may occur more frequently in acromegaly...
- A mutation in the thyroid hormone receptor alpha geneElena Bochukova
University of Cambridge Metabolic Research Laboratories and National Institute for Health Research Cambridge Biomedical Research Centre, Institute of Metabolic Science, Addenbrooke s Hospital, Cambridge, United Kingdom
N Engl J Med 366:243-9. 2012..Our observations are consistent with defective human TRα-mediated thyroid hormone resistance and substantiate the concept of hormone action through distinct receptor subtypes in different target tissues...