Professor Li Chan

Profile

ORCID iD: 0000-0001-5146-8242

Professor Li Chan studied Medicine at Cambridge before undertaking her basic paediatric training at Barts and the London Hospitals. She first joined the Centre for Endocrinology in 2005 to undertake her PhD investigating a novel receptor trafficking protein MRAP2 (melanocortin receptor accessory protein two). This was funded by a Barts and the London Charity clinical training fellowship and then an MRC clinical research training fellowship. Her work on the melanocortin receptor accessory proteins MRAP and MRAP2 as regulators of the melanocortin receptor family has revealed important novel aspects of melanocortin receptor biology. During this time she also contributed to two other areas of research: phenotype/genotype analysis of patients with Familial Glucocorticoid Deficiency (FGD), and the long-term follow-up of paediatric Cushing’s disease patients.

After her PhD she was awarded the only national GRID training post in Paediatric Endocrinology. She was awarded a Tenure-track MRC/Academy of Medical Sciences clinician scientist fellowship to study the effects of MRAPs in energy homeostasis and adrenal function. She was a visiting scientist at the Sanger Institute and Institute of Metabolic Sciences in Cambridge. In 2012, she was awarded the Journal of Endocrinology outstanding young researcher prize. She was one of 20 female academics to participate in the first SUSTAIN Academy of Medical Sciences Leadership Programme and promoted to Clinical Senior Lecturer in Paediatric Endocrinology. In 2017, she joined the Department of Comparative Medicine at Yale School of Medicine as a visiting Associate Professor for a 6 month period.

She is Senior Editor for Endocrine Connections, co-lead for the new Lifelong Health (LHH) multidisciplinary faculty of medicine theme at QMUL, co-lead for GeCiP endocrinology and metabolism domain and GOSH Charity’s Research Assessment Panel member. 

Research

Group members

• D Jackson
• C Lai, N Nguyen
• R Xu
• D Popat
• C Smith (with Prof Metherell)

Summary 

Publications

• Friedman HR, Gaston L, Chan L et al. (2024). 6569 An Increase, Rather Than Absolute Amount, Of Corticotropin-Releasing Hormone (Crh) Drives Mouse Anxiety-Like Behavior. nameOfConference

  
  

  DOI: 10.1210/jendso/bvae163.106

  
  

  QMRO: qmroHref
• Smith CJ, Abdullah MA, Hassan SS et al. (2024). 8482 Genetic Aetiology Of Primary Adrenal Insufficiency In Sudan. nameOfConference

  
  

  DOI: 10.1210/jendso/bvae163.193

  
  

  QMRO: qmroHref
• Elhassan YS, Appenzeller S, Landwehr L-S et al. (2024). Primary unilateral macronodular adrenal hyperplasia with concomitant glucocorticoid and androgen excess and KDM1A inactivation. nameOfConference

  
  

  DOI: 10.1093/ejendo/lvae106

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/99185
• Ramakrishnan A, Popat D, Purushothaman P et al. (2024). A Novel Maternally Inherited GNAS Variant in a Family With Hyperphagia and Obesity: 3 Cases. nameOfConference

  
  

  DOI: 10.1210/jcemcr/luae125

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/100580
• Elhassan Y, Appenzeller S, Landwehr L-S et al. (publicationYear). Primary unilateral macronodular adrenal hyperplasia with concomitant glucocorticoid and androgen excess and KDM1A inactivation. nameOfConference

  
  

  DOI: 10.1530/endoabs.99.ep919

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/100709
• Purushothaman P, Popat D, Ramakrishnan A et al. (publicationYear). A novel maternally inherited GNAS variant in a family with hyperphagia and obesity. nameOfConference

  
  

  DOI: 10.1530/endoabs.95.oc2.1

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/99186
• Popat D, Xu R, McCormick P et al. (publicationYear). Gain-of-function mutation F278C in MC2R results in reduced beta-1-arrestin recruitment and increased cAMP implicating impairment of S280 phosphorylation. nameOfConference

  
  

  DOI: 10.1530/endoabs.94.oc5.2

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/99187
• Smith C, Abdullah M, Hassan S et al. (publicationYear). Genetic aetiology of primary adrenal insufficiency in Sudan. nameOfConference

  
  

  DOI: 10.1530/endoabs.94.p15

  
  

  QMRO: qmroHref
• Elhassan Y, Appenzeller S, Landwehr L et al. (publicationYear). Primary unilateral macronodular adrenal hyperplasia (pumah) with concomitant glucocorticoid and androgen excess due to kdm1a activation and constitute mc2r activation. nameOfConference

  
  

  DOI: 10.1530/endoabs.94.cc1

  
  

  QMRO: qmroHref
• Smith C, Jackson A, Al-Salihi A et al. (2023). SAT292 Adrenal Insufficiency Associated With Biallelic Mutations In Porphyria Genes. nameOfConference

  
  

  DOI: 10.1210/jendso/bvad114.296

  
  

  QMRO: qmroHref
• Smith C, Jackson A, Al-Salihi A et al. (publicationYear). Adrenal Insufficiency Associated with Biallelic Mutations in Porphyria Genes. nameOfConference

  
  

  DOI: 10.1530/endoabs.90.oc5.4

  
  

  QMRO: qmroHref
• Smith C, Abdullah M, Hassan S et al. (publicationYear). Genetic Aetiology of Primary Adrenal Insufficiency in Sudan. nameOfConference

  
  

  DOI: 10.1530/endoabs.90.p560

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/88342
• Smith CJ, Chan L, Metherell LA (2023). 769 Reduced expression of PPOX, the variegate porphyria gene, causes intrinsic pathological changes to keratinocytes. nameOfConference

  
  

  DOI: 10.1016/j.jid.2023.03.778

  
  

  QMRO: qmroHref
• Baksh RA, Pape SE, Chan LF et al. (2023). Multiple morbidity across the lifespan in people with Down syndrome or intellectual disabilities: a population-based cohort study using electronic health records. nameOfConference

  
  

  DOI: 10.1016/s2468-2667(23)00057-9

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/87621
• Hasenmajer V, Ferrigno R, Minnetti M et al. (2023). Rare forms of genetic paediatric adrenal insufficiency: Excluding congenital adrenal hyperplasia. nameOfConference

  
  

  DOI: 10.1007/s11154-023-09784-7

  
  

  QMRO: qmroHref
• Perez-Ternero C, Aubdool A, Makwana R et al. (2023). C-type natriuretic peptide regulates metabolic homeostasis. nameOfConference

  
  

  DOI: doi

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/86175
• Perez-Ternero C, Aubdool A, Makwana R et al. (2023). C-type natriuretic peptide regulates metabolic homeostasis. nameOfConference

  
  

  DOI: doi

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/85259
• Wells J, Elizalde MT, Saini F et al. (2023). Insulin resistance and symptoms of depression in Down syndrome. nameOfConference

  
  

  DOI: 10.1016/j.nsa.2023.103453

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/99188
• Smith CJ, Chan L, Metherell LA (2023). Reduced expression of PPOX, the variegate porphyria gene, causes intrinsic pathological changes to keratinocytes. nameOfConference

  
  

  DOI: doi

  
  

  QMRO: qmroHref
• Chan L, Smith C, Read J et al. (2022). RF33 | PSAT69 A Combined Candidate Gene/Whole Exome Sequencing Approach Permits a Rapid Genetic Diagnosis for >81% Individuals with Primary Adrenal Insufficiency.. nameOfConference

  
  

  DOI: 10.1210/jendso/bvac150.286

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/85130
• Chan L (publicationYear). Identification of a novel specific small-molecule melanocortin-2-receptor antagonist. nameOfConference

  
  

  DOI: 10.1530/EC-22-0338

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/82198
• Aslam A, Baksh A, Pape S et al. (publicationYear). Diabetes and obesity in down syndrome across the lifespan: a retrospective cohort study using UK electronic health records. nameOfConference

  
  

  DOI: 10.1530/endoabs.85.oc9.3

  
  

  QMRO: qmroHref
• Maitra S, Smith C, Hall C et al. (publicationYear). The lack of genotype: phenotype correlations in rare causes of primary adrenal insufficiency highlights the need for genetic testing. nameOfConference

  
  

  DOI: 10.1530/endoabs.85.oc5.5

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/85120
• Aslam A, Baksh A, Pape S et al. (2022). Diabetes and obesity in Down Syndrome across the lifespan: a retrospective cohort study using UK electronic health records. nameOfConference

  
  

  DOI: 10.2337/dc22-0482

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/80532
• Parry CM, Chan LF, Carr DF et al. (2023). Platelet-derived growth factor D expression in adrenal cells is modulated by corticosteroids: putative role in adrenal suppression. nameOfConference

  
  

  DOI: 10.1038/s41390-022-02094-9

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/78861
• Smith C, Read J, Hall C et al. (publicationYear). A rapid genetic diagnosis for >80% individuals with non-CAH Primary Adrenal Insufficiency is achievable by candidate gene sequencing combined with WES. nameOfConference

  
  

  DOI: 10.1530/endoabs.81.rc2.1

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/85108
• Baksh RA, Strydom A, Pape SE et al. (2022). Susceptibility to COVID-19 Diagnosis in People with Down Syndrome Compared to the General Population: Matched-Cohort Study Using Primary Care Electronic Records in the UK. nameOfConference

  
  

  DOI: 10.1007/s11606-022-07420-9

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/78097
• Perez-Ternero C, Aubdool AA, Makwana R et al. (2022). C-type natriuretic peptide is a pivotal regulator of metabolic homeostasis. nameOfConference

  
  

  DOI: 10.1073/pnas.2116470119

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/77738
• Musa SA, Abdullah MA, Hassan SS et al. (2022). Clinical and Genetic characterization of primary adrenal insufficiency in Sudanese children. nameOfConference

  
  

  DOI: doi

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/85107
• Chan LF, Ramachandrappa S (2022). Genetics of Adrenal Insufficiency. nameOfConference

  
  

  DOI: 10.1093/med/9780198870197.003.0102

  
  

  QMRO: qmroHref
• Baksh RA, Pape SE, Chan LF et al. (2022). Multiple Morbidity Across the Lifespan in People with Down Syndrome or Intellectual Disability: Population-Based Cohort Study Using Electronic Health Records. nameOfConference

  
  

  DOI: 10.2139/ssrn.4282721

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/85561
• Smith C, Maharaj A, Qamar Y et al. (publicationYear). In vitro splicing assay proves the pathogenicity of intronic variants in MRAP. nameOfConference

  
  

  DOI: 10.1530/endoabs.77.p134

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/77625
• H I, O D, F F et al. (publicationYear). Structure reveals the activation mechanism of the MC4 receptor to initiate satiation signalling. nameOfConference

  
  

  DOI: 10.1530/ey.18.11.2

  
  

  QMRO: qmroHref
• Maudhoo A, Maharaj A, Buonocore F et al. (2021). Missplicing due to a synonymous, T96= exonic substitution in the T-box transcription factor TBX19 resulting in isolated ACTH deficiency. nameOfConference

  
  

  DOI: 10.1530/edm-21-0128

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/73999
• Degtjarik O, Israeli H, Chan LF et al. (2021). To eat or not to eat: cryo-EM structure of melanocortin receptor 4 reveals mechanism of a 'hunger switch' initiating satiety signalling. nameOfConference

  
  

  DOI: 10.1107/s0108767321092060

  
  

  QMRO: qmroHref
• Buonocore F, Maharaj A, Qamar Y et al. (2021). Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK. nameOfConference

  
  

  DOI: 10.1210/jendso/bvab086

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/72080
• Smith C, Maharaj AV, Qamar Y et al. (2021). In Vitro Splicing Assay Proves the Pathogenicity of Intronic Variants in MRAP. nameOfConference

  
  

  DOI: 10.1210/jendso/bvab048.172

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/71889
• Israeli H, Degtjarik O, Fierro F et al. (2021). Structure reveals the activation mechanism of the MC4 receptor to initiate satiation signaling. nameOfConference

  
  

  DOI: 10.1126/science.abf7958

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/71518
• Buonocore F, Maharaj A, Qamar Y et al. (2021). Genetic analysis of paediatric primary adrenal insufficiency of unknown aetiology over 25 years. nameOfConference

  
  

  DOI: doi

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/74647
• Baksh RA, Pape SE, Chan L et al. (2021). INCREASED SUSCEPTIBILITY OF COVID-19 DIAGNOSIS IN DOWN SYNDROME COMPARED TO THE GENERAL POPULATION. nameOfConference

  
  

  DOI: doi

  
  

  QMRO: qmroHref
• Maharaj A, Williams J, Bradshaw T et al. (2020). Sphingosine-1-phosphate lyase (SGPL1) deficiency is associated with mitochondrial dysfunction. nameOfConference

  
  

  DOI: 10.1016/j.jsbmb.2020.105730

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/66206
• Qamar Y, Maharaj A, Chan L et al. (publicationYear). Rare causes of primary adrenal insufficiency (PAI) in children from Sudan. nameOfConference

  
  

  DOI: 10.1530/endoabs.66.oc5.9

  
  

  QMRO: qmroHref
• Qamar Y, Maharaj A, Chan L et al. (publicationYear). Splice-site mutations in the melanocortin-2 receptor accessory protein that lead to early-onset familial glucocorticoid deficiency type 2. nameOfConference

  
  

  DOI: 10.1530/endoabs.65.cc2

  
  

  QMRO: qmroHref
• Smith C, Maharaj A, Prasad R et al. (publicationYear). Twenty-five years of familial glucocorticoid deficiency: genotypic and phenotypic variability. nameOfConference

  
  

  DOI: 10.1530/endoabs.65.p48

  
  

  QMRO: qmroHref
• Clark AJL, Chan L (publicationYear). Stability and Turnover of the ACTH Receptor Complex. nameOfConference

  
  

  DOI: 10.3389/fendo.2019.00491

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/61412
• Novoselova TV, King PJ, Guasti L et al. (2019). ACTH signalling and adrenal development: lessons from mouse models. nameOfConference

  
  

  DOI: 10.1530/ec-19-0190

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/59205
• Maharaj A, Maudhoo A, Chan LF et al. (2019). Isolated glucocorticoid deficiency: Genetic causes and animal models. nameOfConference

  
  

  DOI: 10.1016/j.jsbmb.2019.02.012

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/59026
• Smith CJ, Maharaj AV, Prasad R et al. (2019). Genetics of Familial Glucocorticoid Deficiency over the Decades: Phenotypic Variability and Associated Features. nameOfConference

  
  

  DOI: doi

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/65660
• Maudhoo A, Maharaj A, Buonocore F et al. (publicationYear). Missplicing due to a silent exonic substitution in the T-box transcription factor TBX19 resulting in Isolated ACTH deficiency. nameOfConference

  
  

  DOI: 10.1530/endoabs.59.cc2

  
  

  QMRO: qmroHref
• Chan L, Hussain M, Forfar R et al. (publicationYear). Identification and characterisation of a small-molecule ACTH receptor/Melanocortin-2-receptor antagonist. nameOfConference

  
  

  DOI: 10.1530/endoabs.58.oc4.4

  
  

  QMRO: qmroHref
• Bruschetta G, Kim JD, Diano S et al. (publicationYear). Overexpression of Melanocortin 2 Receptor Accessory Protein 2 (MRAP2) in adult paraventricular MC4R neurons regulates energy intake and expenditure. nameOfConference

  
  

  DOI: 10.1016/j.molmet.2018.09.010

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/45950
• Maharaj A, Bradshaw T, Williams J et al. (2018). Sphingosine-1-Phosphate Lyase (SGPL1) Deficiency Is Associated with Mitochondrial Dysfunction. 57th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE)

  
  

  DOI: 10.1016/j.jsbmb.2020.105730

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/65943
• Novoselova TV, Hussain M, King PJ et al. (2018). MRAP deficiency impairs adrenal progenitor cell differentiation and gland zonation. nameOfConference

  
  

  DOI: 10.1096/fj.201701274rr

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/39467
• Novoselova TV, Chan LF, Clark AJL (2018). Pathophysiology of melanocortin receptors and their accessory proteins.. nameOfConference

  
  

  DOI: 10.1016/j.beem.2018.02.002

  
  

  QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/39066
• Clark AJL, Chan LF (2017). Promiscuity among the MRAPs. nameOfConference

  
  

  DOI: 10.1530/JME-17-0002

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/23402
• CHAN L (publicationYear). A central role for melanocortin-4 receptors in offspring hypertension arising from maternal obesity. nameOfConference

  
  

  DOI: 10.1073/pnas.1607464113

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/16297
• Clark AJ, Forfar R, Hussain M et al. (2016). ACTH Antagonists. nameOfConference

  
  

  DOI: 10.3389/fendo.2016.00101

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/15437
• Novoselova TV, Larder R, Rimmington D et al. (publicationYear). Loss of Mrap2 is associated with Sim 1 deficiency and increased circulating cholesterol. nameOfConference

  
  

  DOI: 10.1530/JOE-16-0057

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/12333
• Buonocore F, Chan L, Achermann J et al. (publicationYear). Molecular diagnosis of patients with adrenal insufficiency using a targeted custom Haloplex next-generation sequencing panel. nameOfConference

  
  

  DOI: 10.1530/endoabs.38.oc3.1

  
  

  QMRO: qmroHref
• Chan LF, Campbell DC, Novoselova TV et al. (publicationYear). Whole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in Children. nameOfConference

  
  

  DOI: 10.3389/fendo.2015.00113

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/10570
• Jackson DS, Ramachandrappa S, Clark AJ et al. (publicationYear). Melanocortin receptor accessory proteins in adrenal disease and obesity. nameOfConference

  
  

  DOI: 10.3389/fnins.2015.00213

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/7940
• Novoselova TV, Rath SR, Carpenter K et al. (2015). NNT Pseudoexon Activation as a Novel Mechanism for Disease in Two Siblings With Familial Glucocorticoid Deficiency. nameOfConference

  
  

  DOI: 10.1210/jc.2014-3641

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/6687
• Novoselova T, Larder R, Rimmington D et al. (publicationYear). Melanocortin 2 receptor accessory protein 2 (Mrap2) regulates hypothalamic melanocortin-4-receptor trafficking in vivo. nameOfConference

  
  

  DOI: 10.1530/endoabs.36.p60

  
  

  QMRO: qmroHref
• Novoselova T, Spoudeas H, Huebner A et al. (publicationYear). Varied clinical presentations of six patients with mutations in CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450scc. nameOfConference

  
  

  DOI: 10.1530/endoabs.36.p12

  
  

  QMRO: qmroHref
• Chan L, Novoselova T, Rath S et al. (publicationYear). cDNA analysis reveals NNT pseudoexon activation in two siblings with familial glucocorticoid deficiency. nameOfConference

  
  

  DOI: 10.1530/endoabs.36.p4

  
  

  QMRO: qmroHref
• Prasad R, Chan LF, Hughes CR et al. (2014). Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD).. nameOfConference

  
  

  DOI: 10.1210/jc.2013-3844

  
  

  QMRO: qmroHref
• Asai M, Ramachandrappa S, Joachim M et al. (2013). Loss of Function of the Melanocortin 2 Receptor Accessory Protein 2 Is Associated with Mammalian Obesity. nameOfConference

  
  

  DOI: 10.1126/science.1233000

  
  

  QMRO: qmroHref
• Meimaridou E, Hughes CR, Kowalczyk J et al. (2013). Familial glucocorticoid deficiency: New genes and mechanisms. nameOfConference

  
  

  DOI: 10.1016/j.mce.2012.12.010

  
  

  QMRO: qmroHref
• Meimaridou E, Hughes CR, Kowalczyk J et al. (2013). Familial glucocorticoid deficiency: New genes and mechanisms.. nameOfConference

  
  

  DOI: 10.1016/j.mce.2012.12.010

  
  

  QMRO: qmroHref
• Novoselova TV, Jackson D, Campbell DC et al. (2013). Melanocortin receptor accessory proteins in adrenal gland physiology and beyond.. nameOfConference

  
  

  DOI: 10.1530/JOE-12-0501

  
  

  QMRO: qmroHref
• Prasad R, Hughes C, Chan L et al. (publicationYear). A mutation in thioredoxin reductase 2 (TXNRD2) is associated with a predominantly adrenal phenotype in humans. nameOfConference

  
  

  DOI: 10.1530/endoabs.31.oc2.5

  
  

  QMRO: qmroHref
• Meimaridou E, Hughes CR, Kowalczyk J et al. (2013). ACTH resistance: genes and mechanisms.. nameOfConference

  
  

  DOI: 10.1159/000342504

  
  

  QMRO: qmroHref
• Ramachandrappa S, Gorrigan RJ, Clark AJL et al. (2013). The melanocortin receptors and their accessory proteins.. nameOfConference

  
  

  DOI: 10.3389/fendo.2013.00009

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/18559
• Jain V, Metherell LA, David A et al. (2011). Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory protein.. nameOfConference

  
  

  DOI: 10.1530/EJE-11-0581

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/18033
• Chan LF, Metherell LA, Clark AJL (2011). Effects of melanocortins on adrenal gland physiology. nameOfConference

  
  

  DOI: 10.1016/j.ejphar.2010.11.041

  
  

  QMRO: qmroHref
• Gorrigan RJ, Guasti L, King P et al. (2011). Localisation of the melanocortin-2-receptor and its accessory proteins in the developing and adult adrenal gland.. nameOfConference

  
  

  DOI: 10.1530/JME-11-0011

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/18354
• Chan LF, Vaidya M, Westphal B et al. (2011). Use of intravenous etomidate to control acute psychosis induced by the hypercortisolaemia in severe paediatric Cushing's disease.. nameOfConference

  
  

  DOI: 10.1159/000324419

  
  

  QMRO: qmroHref
• Chan L, Albertsson-Wikland K, Camacho-Hübner C et al. (2010). Signal transduction in child health: closing the gap between clinical and basic research.. nameOfConference

  
  

  DOI: 10.1126/scisignal.3143mr3

  
  

  QMRO: qmroHref
• Chung T-TLL, Chan LF, Metherell LA et al. (2010). Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2.. nameOfConference

  
  

  DOI: 10.1111/j.1365-2265.2009.03663.x

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/12230
• Dias RP, Kumaran A, Chan LF et al. (2010). Diagnosis, management and therapeutic outcome in prepubertal Cushing's disease.. nameOfConference

  
  

  DOI: 10.1530/EJE-09-0509

  
  

  QMRO: qmroHref
• Dias RP, Chan LF, Metherell LA et al. (2010). Isolated Addison's disease is unlikely to be caused by mutations in MC2R, MRAP or STAR, three genes responsible for familial glucocorticoid deficiency.. nameOfConference

  
  

  DOI: 10.1530/EJE-09-0720

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/18039
• Savage MO, Dias RP, Chan LF et al. (2010). Diagnosis and Treatment of Cushing’s Disease in Children. nameOfConference

  
  

  DOI: 10.1159/000262535

  
  

  QMRO: qmroHref
• Savage MO, Dias RP, Chan LF et al. (2010). Diagnosis and treatment of Cushing's disease in children.. nameOfConference

  
  

  DOI: 10.1159/000262535

  
  

  QMRO: qmroHref
• Chan LF, Hughes CR, Allgrove JA et al. (2010). Use of Intravenous Etomidate in a Child To Control Acute Psychosis Induced by the Hypercortisolemia Secondary to Severe Cushing's Disease.. nameOfConference

  
  

  DOI: doi

  
  

  QMRO: qmroHref
• Chan LF, Metherell LA, Krude H et al. (2009). Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiency.. nameOfConference

  
  

  DOI: 10.1111/j.1365-2265.2008.03511.x

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/18040
• Chan LF, Webb TR, Chung T-T et al. (2009). MRAP and MRAP2 are bidirectional regulators of the melanocortin receptor family.. nameOfConference

  
  

  DOI: 10.1073/pnas.0809918106

  
  

  QMRO: qmroHref
• Chan LF, Chung T-T, Massoud AF et al. (2009). Functional consequence of a novel Y129C mutation in a patient with two contradictory melanocortin-2-receptor mutations.. nameOfConference

  
  

  DOI: 10.1530/EJE-08-0636

  
  

  QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/18034
• Clark AJL, Chan LF, Chung T-T et al. (2009). The genetics of familial glucocorticoid deficiency.. nameOfConference

  
  

  DOI: 10.1016/j.beem.2008.09.006

  
  

  QMRO: qmroHref
• Cooray SN, Chan L, Webb TR et al. (2009). Accessory proteins are vital for the functional expression of certain G protein-coupled receptors.. nameOfConference

  
  

  DOI: 10.1016/j.mce.2008.10.004

  
  

  QMRO: qmroHref
• Webb TR, Chan L, Cooray SN et al. (2009). Distinct melanocortin 2 receptor accessory protein domains are required for melanocortin 2 receptor interaction and promotion of receptor trafficking.. nameOfConference

  
  

  DOI: 10.1210/en.2008-0941

  
  

  QMRO: qmroHref
• Chan LF, David A, Jain V et al. (2009). A novel splice mutation (IVSds3+3insTA) in the melanocortin 2 receptor accessory protein that leads to skipping of exon 3. nameOfConference

  
  

  DOI: doi

  
  

  QMRO: qmroHref
• Metherell LA, Chung T-T, Chan LF et al. (2009). Genotype:phenotype relationships in familial glucocorticoid deficiency types 1 and 2. nameOfConference

  
  

  DOI: doi

  
  

  QMRO: qmroHref
• Chan LF, Metherell LA, Krude H et al. (2009). Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiency. nameOfConference

  
  

  DOI: 10.1111/j.1365-2265.2008.03511.x

  
  

  QMRO: qmroHref
• Dias RP, Kumaran A, Chan LF et al. (2009). Prepubertal Cushing's disease: diagnosis, management and therapeutic outcome. nameOfConference

  
  

  DOI: doi

  
  

  QMRO: qmroHref
• Chung TT, Webb TR, Chan LF et al. (2008). The majority of adrenocorticotropin receptor (melanocortin 2 receptor) mutations found in familial glucocorticoid deficiency type 1 lead to defective trafficking of the receptor to the cell surface.. nameOfConference

  
  

  DOI: 10.1210/jc.2008-1744

  
  

  QMRO: qmroHref
• Savage MO, Chan LF, Grossman AB et al. (2008). Work-up and management of paediatric Cushing's syndrome.. nameOfConference

  
  

  DOI: 10.1097/MED.0b013e328305082f

  
  

  QMRO: qmroHref
• O'Riordan SMP, Lynch SA, Hindmarsh PC et al. (2008). A novel variant of familial glucocorticoid deficiency prevalent among the Irish traveler population. nameOfConference

  
  

  DOI: 10.1210/jc.2008-0034

  
  

  QMRO: qmroHref
• O'Riordan SMP, Lynch SA, Hindmarsh PC et al. (2008). A novel variant of familial glucorticoid deficiency prevalent among the Irish traveler population. nameOfConference

  
  

  DOI: 10.1210/jc.2008-0034

  
  

  QMRO: qmroHref
• Cooray SN, Chan L, Metherell L et al. (2008). Adrenocorticotropin resistance syndromes.. nameOfConference

  
  

  DOI: 10.1159/000134828

  
  

  QMRO: qmroHref
• Savage MO, Chan LF, Afshar F et al. (2008). Advances in the management of paediatric Cushing's disease.. nameOfConference

  
  

  DOI: 10.1159/000117388

  
  

  QMRO: qmroHref
• Storr H, Alexandraki K, Chan L et al. (2008). Comparisons in the epidemiology and diagnostic features between paediatric and adult Cushing's disease. nameOfConference

  
  

  DOI: doi

  
  

  QMRO: qmroHref
• Chan LF, Clark AJL, Metherell LA (2008). Familial glucocorticoid deficiency: Advances in the molecular understanding of ACTH action. nameOfConference

  
  

  DOI: 10.1159/000111810

  
  

  QMRO: qmroHref
• Chan L, Chung TT, Massoud A et al. (2008). Functional consequence of two opposing MC2R mutations in a child with severe FGD phenotype. nameOfConference

  
  

  DOI: doi

  
  

  QMRO: qmroHref
• Chan LF, Storr HL, Grossman AB et al. (2007). Pediatric Cushing's syndrome: clinical features, diagnosis, and treatment.. nameOfConference

  
  

  DOI: 10.1590/s0004-27302007000800012

  
  

  QMRO: qmroHref
• Storr HL, Chan LF, Grossman AB et al. (2007). Paediatric Cushing's syndrome: epidemiology, investigation and therapeutic advances. nameOfConference

  
  

  DOI: 10.1016/j.tem.2007.03.006

  
  

  QMRO: qmroHref
• Chan LF, Storr HL, Plowman PN et al. (2007). Long-term anterior pituitary function in patients with paediatric Cushing's disease treated with pituitary radiotherapy. nameOfConference

  
  

  DOI: 10.1530/EJE-06-0588

  
  

  QMRO: qmroHref
• Savage MO, Storr HL, Chan LF et al. (2007). Diagnosis and treatment of pediatric Cushing's disease.. nameOfConference

  
  

  DOI: 10.1007/s11102-007-0056-4

  
  

  QMRO: qmroHref
• Metherell LA, Chan LF, Clark AJL (2006). The genetics of ACTH resistance syndromes.. nameOfConference

  
  

  DOI: 10.1016/j.beem.2006.09.002

  
  

  QMRO: qmroHref
• Chan L, Storr H, Plowman PN et al. (2006). Anterior pituitary function in the long-term follow-up of five paediatric Cushing's disease patients treated with pituitary radiotherapy. nameOfConference

  
  

  DOI: doi

  
  

  QMRO: qmroHref
• Chan LF, Storr HL, Scheimberg I et al. (2004). Pseudo-precocious puberty caused by a juvenile granulosa cell tumor secreting androstenedione, inhibin and insulin-like growth factor-I. nameOfConference

  
  

  DOI: 10.1515/jpem.2004.17.4.679

  
  

  QMRO: qmroHref
• Chan L, Hodes D (2004). When is an abnormal frenulum a sign of child abuse?. nameOfConference

  
  

  DOI: 10.1136/adc.2003.031534

  
  

  QMRO: qmroHref

Collaborators

Internal

• Dr Caroline Brennan
• Professor Leo Guasti
• Professor Lou Metherell
• Professor Paul Chapple

External

• Dr Tony Coll (University of Cambridge)
• Prof Stephen O'Rahilly (University of Cambridge)
• Dr Giles Yeo (University of Cambridge)
• MRC Technology/LifeArc
• Dr Marika Charalambous (King’s College, London)
• Prof Sabrina Diano & Prof Tamas Horvath (Yale University)
• Prof Joe Majzoub (Boston Children’s)