Prof Li Chan
Professor of Molecular Endocrinology and Metabolism/Paediatric Endocrinologist
Centre for Endocrinology
Queen Mary University of London
Queen Mary University of London
Research
Obesity, HPA, Melanocortin receptors, Accessory proteins, Appetite, Stress
Interests
I am Professor of Molecular Endocrinology and Metabolism/Honorary Consultant Paediatric Endocrinology at QMUL and Barts Health. My research is in the area of adrenal and metabolic dysfunction and as such I work on in-vitro and in-vivo models for these.Publications
Publications of specific relevance to Predictive in vitro Models
2024
Friedman HR, Gaston L, Chan L and Majzoub JA (2024). 6569 An Increase, Rather Than Absolute Amount, Of Corticotropin-Releasing Hormone (Crh) Drives Mouse Anxiety-Like Behavior. The Endocrine Society Journal of the Endocrine Society vol. 8, (Supplement_1)
Smith CJ, Abdullah MA, Hassan SS, Fauzi LS, Qamar Y, Hall CL, Maitra S, Maharaj AV, Ramirez LMM, Read JE, Chan L, Metherell L and Musa SA (2024). 8482 Genetic Aetiology Of Primary Adrenal Insufficiency In Sudan. The Endocrine Society Journal of the Endocrine Society vol. 8, (Supplement_1)
Elhassan YS, Appenzeller S, Landwehr L-S, Lippert J, Popat D, Gilligan LC, Abdi L, Goh E, Diaz-Cano S, Kircher S, Gramlich S, Sutcliffe RP, Thangaratinam S, Chan LF, Fassnacht M, Arlt W and Ronchi CL (2024). Primary unilateral macronodular adrenal hyperplasia with concomitant glucocorticoid and androgen excess and KDM1A inactivation. Oxford University Press (OUP) European Journal of Endocrinology vol. 191, (3) 334-344.
Ramakrishnan A, Popat D, Purushothaman P, Chan LF and Gevers EF (2024). A Novel Maternally Inherited GNAS Variant in a Family With Hyperphagia and Obesity: 3 Cases. The Endocrine Society JCEM Case Reports vol. 2, (8)
Elhassan Y, Appenzeller S, Landwehr L-S, Lippert J, Popat D, C. GL, Abdi L, Goh E, Diaz-Cano S, Kircher S, Gramlich S, Sutcliffe R, Thangaratinam S, Chan L, Fassnacht M, Arlt W and L RC (2024). Primary unilateral macronodular adrenal hyperplasia with concomitant glucocorticoid and androgen excess and KDM1A inactivation. Bioscientifica Endocrine Abstracts
2023
Purushothaman P, Popat D, Ramakrishnan A, Chan L and Gevers E (2023). A novel maternally inherited GNAS variant in a family with hyperphagia and obesity. Bioscientifica Endocrine Abstracts
Popat D, Xu R, McCormick P and Chan L (2023). Gain-of-function mutation F278C in MC2R results in reduced beta-1-arrestin recruitment and increased cAMP implicating impairment of S280 phosphorylation. Bioscientifica Endocrine Abstracts
Elhassan Y, Appenzeller S, Landwehr L, Popat D, Gilligan L, Goh E, Diaz-Cano S, Kircher S, Gramlich S, Sutcliffe R, Thangaratinam S, Chan L, Fassnacht M, Arlt W and Ronchi C (2023). Primary unilateral macronodular adrenal hyperplasia (pumah) with concomitant glucocorticoid and androgen excess due to kdm1a activation and constitute mc2r activation. Bioscientifica Endocrine Abstracts
Smith C, Abdullah M, Hassan S, Fauzi L, Qamar Y, Hall C, Maitra S, Maharaj A, Marroquin RL, Read J, Chan L, Metherell L and Musa S (2023). Genetic aetiology of primary adrenal insufficiency in Sudan. Bioscientifica Endocrine Abstracts
Smith C, Jackson A, Al-Salihi A, Janecke A, Steichen E, Darby D, Griffin L, Banka S, Elsayed S, Chan L and Metherell L (2023). SAT292 Adrenal Insufficiency Associated With Biallelic Mutations In Porphyria Genes. The Endocrine Society Journal of the Endocrine Society vol. 7, (Supplement_1)
Smith C, Abdullah M, Hassan S, Qamar Y, Hall C, Maitra S, Maharaj A, Mariela MRL, Read J, Chan L, Metherell L and Musa S (2023). Genetic Aetiology of Primary Adrenal Insufficiency in Sudan. Bioscientifica Endocrine Abstracts
Smith CJ, Chan L and Metherell LA (2023). 769 Reduced expression of PPOX, the variegate porphyria gene, causes intrinsic pathological changes to keratinocytes. Elsevier Journal of Investigative Dermatology vol. 143, (5)
Baksh RA, Pape SE, Chan LF, Aslam AA, Gulliford MC, Strydom A and Consortium G-D (2023). Multiple morbidity across the lifespan in people with Down syndrome or intellectual disabilities: a population-based cohort study using electronic health records. Elsevier The Lancet Public Health vol. 8, (6) e453-e462.
Hasenmajer V, Ferrigno R, Minnetti M, Pellegrini B, Isidori AM, Lenzi A, Salerno M, Cappa M, Chan L, De Martino MC and Savage MO (2023). Rare forms of genetic paediatric adrenal insufficiency: Excluding congenital adrenal hyperplasia. Springer Nature Reviews in Endocrine and Metabolic Disorders vol. 24, (2) 345-363.
Wells J, Elizalde MT, Saini F, Gomis-González M, Smida IB, Gamazo LF, Chan L, Delahaye AH, Durand S, De La Torre Fornell R and Strydom A (2023). Insulin resistance and symptoms of depression in Down syndrome. Elsevier Neuroscience Applied vol. 2,
2022
Chan L, Smith C, Read J, Hall C, Maharaj A, Ramirez LM, Qamar Y, Hughes C, Clark A, Musa S, Prasad R and Metherell L (2022). RF33 | PSAT69 A Combined Candidate Gene/Whole Exome Sequencing Approach Permits a Rapid Genetic Diagnosis for >81% Individuals with Primary Adrenal Insufficiency. The Endocrine Society Journal of the Endocrine Society vol. 6, (Supplement_2) a140-a141.
Chan L (2022). Identification of a novel specific small-molecule melanocortin-2-receptor antagonist. BioScientifica Endocrine Connections vol. 11, (12)
Aslam A, Baksh A, Pape S, Consortium G-D, Strydom A, Gulliford M and Chan L (2022). Diabetes and obesity in down syndrome across the lifespan: a retrospective cohort study using UK electronic health records. Bioscientifica Endocrine Abstracts
Maitra S, Smith C, Hall C, Read J, Maharaj AV, Mariela MRL, Qamar Y, Prasad R, Chan LF and Metherell LA (2022). The lack of genotype: phenotype correlations in rare causes of primary adrenal insufficiency highlights the need for genetic testing. Bioscientifica Endocrine Abstracts
Aslam A, Baksh A, Pape S, Strydom A, Gulliford M and Chan L (2022). Diabetes and obesity in Down Syndrome across the lifespan: a retrospective cohort study using UK electronic health records. American Diabetes Association Diabetes Care
Parry CM, Chan LF, Carr DF and Hawcutt DB (2022). Platelet-derived growth factor D expression in adrenal cells is modulated by corticosteroids: putative role in adrenal suppression. Springer Nature Pediatric Research vol. 93, (1) 97-101.
Smith C, Read J, Hall C, Maharaj A, Marroquin RL, Qamar Y, Hughes C, Clark A, Prasad R, Chan L, Musa S and Metherell L (2022). A rapid genetic diagnosis for >80% individuals with non-CAH Primary Adrenal Insufficiency is achievable by candidate gene sequencing combined with WES. Bioscientifica Endocrine Abstracts
Baksh RA, Strydom A, Pape SE, Chan LF and Gulliford MC (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. Springer Nature Journal of General Internal Medicine vol. 37, (8) 2009-2015.
Perez-Ternero C, Aubdool AA, Makwana R, Sanger GJ, Stimson RH, Chan LF, Moyes AJ and Hobbs AJ (2022). C-type natriuretic peptide is a pivotal regulator of metabolic homeostasis. Proc Natl Acad Sci U S A vol. 119, (13)
Chan LF and Ramachandrappa S (2022). Genetics of Adrenal Insufficiency. Oxford Textbook of Endocrinology and Diabetes 3e Oxford University Press (OUP)
Baksh RA, Pape SE, Chan LF, Aslam AA, Gulliford MC, Strydom A and Consortium G-D (2022). Multiple Morbidity Across the Lifespan in People with Down Syndrome or Intellectual Disability: Population-Based Cohort Study Using Electronic Health Records. Elsevier The Lancet Public Health
2021
Smith C, Maharaj A, Qamar Y, Read J, Williams J, Marimuthu V, Chan L and Metherell L (2021). In vitro splicing assay proves the pathogenicity of intronic variants in MRAP. Bioscientifica Endocrine Abstracts
H I, O D, F F, V C, AK G, NJ R, J B, V P, Y P, LF C, D B-Z, PJ M, Y N and M S-B (2021). Structure reveals the activation mechanism of the MC4 receptor to initiate satiation signalling. Bioscientifica
Maudhoo A, Maharaj A, Buonocore F, Martos-Moreno GA, Argente J, Achermann JC, Chan LF and Metherell LA (2021). Missplicing due to a synonymous, T96= exonic substitution in the T-box transcription factor TBX19 resulting in isolated ACTH deficiency. Bioscientifica Endocrinology Diabetes and Metabolism Case Reports vol. 2021, 21-0128.
Degtjarik O, Israeli H, Chan LF, Ben-Zvi D, Niv MY, McCormick PJ and Shalev-Benami M (2021). To eat or not to eat: cryo-EM structure of melanocortin receptor 4 reveals mechanism of a 'hunger switch' initiating satiety signalling. International Union of Crystallography (IUCr) Acta Crystallographica Section A: Foundations and advances vol. 77, (a2) c480-c480.
Buonocore F, Maharaj A, Qamar Y, Koehler K, Suntharalingham JP, Chan LF, Ferraz-De-Souza B, Hughes CR, Lin L, Prasad R, Allgrove J, Andrews ET, Buchanan CR, Cheetham TD, Crowne EC, Davies JH, Gregory JW, Hindmarsh PC, Hulse T, Krone NP, Shah P, Shaikh MG, Roberts C, Clayton PE, Dattani MT, Thomas NS, Huebner A, Clark AJ, Metherell LA and Achermann JC (2021). Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK. Journal of the Endocrine Society vol. 5, (8)
Smith C, Maharaj AV, Qamar Y, Read J, Williams J, Chan L, Marimuthu V and Metherell L (2021). In Vitro Splicing Assay Proves the Pathogenicity of Intronic Variants in MRAP. Journal of the Endocrine Society vol. 5, (Suppl 1) a85-a86.
Israeli H, Degtjarik O, Fierro F, Chunilal V, Gill AK, Roth NJ, Botta J, Prabahar V, Peleg Y, Chan LF, Ben-Zvi D, McCormick PJ, Niv MY and Shalev-Benami M (2021). Structure reveals the activation mechanism of the MC4 receptor to initiate satiation signaling. American Association for the Advancement of Science (AAAS) Science vol. 372, (6544) 808-814.
2020
Maharaj A, Williams J, Bradshaw T, Güran T, Braslavsky D, Casas J, Chan LF, Metherell LA and Prasad R (2020). Sphingosine-1-phosphate lyase (SGPL1) deficiency is associated with mitochondrial dysfunction. Elsevier The Journal of Steroid Biochemistry and Molecular Biology vol. 202,
2019
Qamar Y, Maharaj A, Chan L, AbdulBagi S, Abdullah M and Metherell L (2019). Rare causes of primary adrenal insufficiency (PAI) in children from Sudan. Bioscientifica Endocrine Abstracts
Smith C, Maharaj A, Prasad R, Hughes C, Qamar Y, Clark A, Chan L and Metherell L (2019). Twenty-five years of familial glucocorticoid deficiency: genotypic and phenotypic variability. Bioscientifica Endocrine Abstracts
Qamar Y, Maharaj A, Chan L, Deeb A and Metherell L (2019). Splice-site mutations in the melanocortin-2 receptor accessory protein that lead to early-onset familial glucocorticoid deficiency type 2. Bioscientifica Endocrine Abstracts
Clark AJL and Chan L (2019). Stability and Turnover of the ACTH Receptor Complex. Frontiers Frontiers in Endocrinology vol. 10,
Novoselova TV, King PJ, Guasti L, Metherell LA, Clark AJL and Chan LF (2019). ACTH signalling and adrenal development: lessons from mouse models. Bioscientifica Endocrine Connections vol. -1, (aop) r122-r130.
Maharaj A, Maudhoo A, Chan LF, Novoselova T, Prasad R, Metherell LA and Guasti L (2019). Isolated glucocorticoid deficiency: Genetic causes and animal models. Journal of Steroid Biochemistry and Molecular Biology vol. 189, 73-80.
2018
Maudhoo A, Maharaj A, Buonocore F, Martos-Moreno GA, Argente J, Achermann J, Chan L and Metherell L (2018). Missplicing due to a silent exonic substitution in the T-box transcription factor TBX19 resulting in Isolated ACTH deficiency. Bioscientifica Endocrine Abstracts
Chan L, Hussain M, Forfar R, Khurana P, Cook J, Lewis S, McIver E, Jerman J, Taylor D and Clark A (2018). Identification and characterisation of a small-molecule ACTH receptor/Melanocortin-2-receptor antagonist. Bioscientifica Endocrine Abstracts
Bruschetta G, Kim JD, Diano S and CHAN L (2018). Overexpression of Melanocortin 2 Receptor Accessory Protein 2 (MRAP2) in adult paraventricular MC4R neurons regulates energy intake and expenditure. Elsevier Molecular Metabolism
Novoselova TV, Hussain M, King PJ, Guasti L, Metherell LA, Charalambous M, Clark AJL and Chan LF (2018). MRAP deficiency impairs adrenal progenitor cell differentiation and gland zonation. Wiley The FASEB Journal vol. 32, (11) 6186-6196.
Novoselova TV, Chan LF and Clark AJL (2018). Pathophysiology of melanocortin receptors and their accessory proteins. Best Pract Res Clin Endocrinol Metab vol. 32, (2) 93-106.
2017
Clark AJL and Chan LF (2017). Promiscuity among the MRAPs. BioScientifica Journal of Molecular Endocrinology vol. 58, (3) F1-F4.
2016
CHAN L (2016). A central role for melanocortin-4 receptors in offspring hypertension arising from maternal obesity. National Academy of Sciences Proceedings of the National Academy of Sciences of USA
Clark AJ, Forfar R, Hussain M, Jerman J, McIver E, Taylor D and Chan L (2016). ACTH Antagonists. Frontiers Media Frontiers in Endocrinology vol. 7,
Novoselova TV, Larder R, Rimmington D, Lelliott C, Wynn E, Gorrigan RJ, Tate P, Guasti L, Sanger Mouse Genetics Project T, O'Rahilly S, Clark AJL, Logan DW, Coll AP and Chan LF (2016). Loss of Mrap2 is associated with Sim 1 deficiency and increased circulating cholesterol. Journal of Endocrinology JOE-16-0057-JOE-16-0057.
2015
Buonocore F, Chan L, Achermann J and Metherell L (2015). Molecular diagnosis of patients with adrenal insufficiency using a targeted custom Haloplex next-generation sequencing panel. Bioscientifica Endocrine Abstracts
Chan LF, Campbell DC, Novoselova TV, Clark AJL and Metherell LA (2015). Whole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in Children. Frontiers Frontiers in Endocrinology vol. 6,
Jackson DS, Ramachandrappa S, Clark AJ and Chan LF (2015). Melanocortin receptor accessory proteins in adrenal disease and obesity. Frontiers Frontiers in Neuroscience vol. 9,
Novoselova TV, Rath SR, Carpenter K, Pachter N, Dickinson JE, Price G, Chan LF, Choong CS and Metherell LA (2015). NNT Pseudoexon Activation as a Novel Mechanism for Disease in Two Siblings With Familial Glucocorticoid Deficiency. Endocrine Society JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM vol. 100, (2) E350-E354.
2014
Novoselova T, Larder R, Rimmington D, Lelliott C, Wynn E, O'Rahilly S, Clark A, Logan D, Coll A and Chan L (2014). Melanocortin 2 receptor accessory protein 2 (Mrap2) regulates hypothalamic melanocortin-4-receptor trafficking in vivo. Bioscientifica Endocrine Abstracts
Chan L, Novoselova T, Rath S, Carpenter K, Pachter N, Price G, Dickinson J, Choong C and Metherell L (2014). cDNA analysis reveals NNT pseudoexon activation in two siblings with familial glucocorticoid deficiency. Bioscientifica Endocrine Abstracts
Novoselova T, Spoudeas H, Huebner A, Cheetham T, Chan L and Metherell L (2014). Varied clinical presentations of six patients with mutations in CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450scc. Bioscientifica Endocrine Abstracts
Prasad R, Chan LF, Hughes CR, Kaski JP, Kowalczyk JC, Savage MO, Peters CJ, Nathwani N, Clark AJL, Storr HL and Metherell LA (2014). Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD). J Clin Endocrinol Metab vol. 99, (8) E1556-E1563.
2013
Asai M, Ramachandrappa S, Joachim M, Shen Y, Zhang R, Nuthalapati N, Ramanathan V, Strochlic DE, Ferket P, Linhart K, Ho C, Novoselova TV, Garg S, Ridderstråle M, Marcus C, Hirschhorn JN, Keogh JM, O’Rahilly S, CHAN L, Clark AJ, Farooqi IS and Majzoub JA (2013). Loss of Function of the Melanocortin 2 Receptor Accessory Protein 2 Is Associated with Mammalian Obesity. American Association for the Advancement of Science Science vol. 341, (6143) 275-278.
Meimaridou E, Hughes CR, Kowalczyk J, Guasti L, Chapple JP, King PJ, Chan LF, Clark AJL and Metherell LA (2013). Familial glucocorticoid deficiency: New genes and mechanisms. Mol Cell Endocrinol vol. 371, (1-2) 195-200.
Meimaridou E, Hughes CR, Kowalczyk J, Guasti L, Chapple JP, King PJ, Chan LF, Clark AJL and Metherell LA (2013). Familial glucocorticoid deficiency: New genes and mechanisms. Molecular and Cellular Endocrinology vol. 371, (1-2) 195-200.
Novoselova TV, Jackson D, Campbell DC, Clark AJL and Chan LF (2013). Melanocortin receptor accessory proteins in adrenal gland physiology and beyond. J Endocrinol vol. 217, (1) R1-11.
Prasad R, Hughes C, Chan L, Peters C, Nathwani N, Clark A, Storr H and Metherell L (2013). A mutation in thioredoxin reductase 2 (TXNRD2) is associated with a predominantly adrenal phenotype in humans. Bioscientifica Endocrine Abstracts 1-1.
Meimaridou E, Hughes CR, Kowalczyk J, Chan LF, Clark AJL and Metherell LA (2013). ACTH resistance: genes and mechanisms. Endocr Dev vol. 24, 57-66.
Ramachandrappa S, Gorrigan RJ, Clark AJL and Chan LF (2013). The melanocortin receptors and their accessory proteins. Front Endocrinol (Lausanne) vol. 4,
2011
Jain V, Metherell LA, David A, Sharma R, Sharma PK, Clark AJL and Chan LF (2011). Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory protein. Eur J Endocrinol vol. 165, (6) 987-991.
Chan LF, Metherell LA and Clark AJL (2011). Effects of melanocortins on adrenal gland physiology. EUR J PHARMACOL vol. 660, (1) 171-180.
Gorrigan RJ, Guasti L, King P, Clark AJ and Chan LF (2011). Localisation of the melanocortin-2-receptor and its accessory proteins in the developing and adult adrenal gland. J Mol Endocrinol vol. 46, (3) 227-232.
Chan LF, Vaidya M, Westphal B, Allgrove J, Martin L, Afshar F, Hindmarsh PC, Savage MO, Grossman AB and Storr HL (2011). Use of intravenous etomidate to control acute psychosis induced by the hypercortisolaemia in severe paediatric Cushing's disease. Horm Res Paediatr vol. 75, (6) 441-446.
2010
Chan L, Albertsson-Wikland K, Camacho-Hübner C and Hochberg Z (2010). Signal transduction in child health: closing the gap between clinical and basic research. Sci Signal vol. 3, (143)
Chung T-TLL, Chan LF, Metherell LA and Clark AJL (2010). Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2. Clin Endocrinol (Oxf) vol. 72, (5) 589-594.
Dias RP, Kumaran A, Chan LF, Martin L, Afshar F, Matson M, Plowman PN, Monson JP, Besser GM, Grossman AB, Savage MO and Storr HL (2010). Diagnosis, management and therapeutic outcome in prepubertal Cushing's disease. Eur J Endocrinol vol. 162, (3) 603-609.
Dias RP, Chan LF, Metherell LA, Pearce SHS and Clark AJL (2010). Isolated Addison's disease is unlikely to be caused by mutations in MC2R, MRAP or STAR, three genes responsible for familial glucocorticoid deficiency. Eur J Endocrinol vol. 162, (2) 357-359.
Savage MO, Dias RP, Chan LF, Afshar F, Plowman PN, Matson M, Grossman AB and STORR HL (2010). Diagnosis and Treatment of Cushing’s Disease in Children. Pediatric Neuroendocrinology , Editors: Loche S, Cappa M, Ghizzoni L, Maghnie M and Savage MO. Karger Publishers
Savage MO, Dias RP, Chan LF, Afshar F, Plowman NP, Matson M, Grossman AB and Storr HL (2010). Diagnosis and treatment of Cushing's disease in children. Endocr Dev vol. 17, 134-145.
2009
Chan LF, Metherell LA, Krude H, Ball C, O'Riordan SMP, Costigan C, Lynch SA, Savage MO, Cavarzere P and Clark AJL (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. Clin Endocrinol (Oxf) vol. 71, (2) 171-175.
Chan LF, Webb TR, Chung T-T, Meimaridou E, Cooray SN, Guasti L, Chapple JP, Egertová M, Elphick MR, Cheetham ME, Metherell LA and Clark AJL (2009). MRAP and MRAP2 are bidirectional regulators of the melanocortin receptor family. Proc Natl Acad Sci U S A vol. 106, (15) 6146-6151.
Chan LF, Chung T-T, Massoud AF, Metherell LA and Clark AJL (2009). Functional consequence of a novel Y129C mutation in a patient with two contradictory melanocortin-2-receptor mutations. Eur J Endocrinol vol. 160, (4) 705-710.
Clark AJL, Chan LF, Chung T-T and Metherell LA (2009). The genetics of familial glucocorticoid deficiency. Best Pract Res Clin Endocrinol Metab vol. 23, (2) 159-165.
Cooray SN, Chan L, Webb TR, Metherell L and Clark AJL (2009). Accessory proteins are vital for the functional expression of certain G protein-coupled receptors. Mol Cell Endocrinol vol. 300, (1-2) 17-24.
Webb TR, Chan L, Cooray SN, Cheetham ME, Chapple JP and Clark AJL (2009). Distinct melanocortin 2 receptor accessory protein domains are required for melanocortin 2 receptor interaction and promotion of receptor trafficking. Endocrinology vol. 150, (2) 720-726.
Metherell LA, Chung TT, Chan LF and Clark AJL (2009). Genotype:phenotype relationships in familial glucocorticoid deficiency types 1 and 2. HORM RES vol. 72, 211-211.
Chan LF, David A, Jain V, Clark AJL and Metherell LA (2009). A novel splice mutation (IVSds3+3insTA) in the melanocortin 2 receptor accessory protein that leads to skipping of exon 3. HORM RES vol. 72, 70-70.
Dias RP, Kumaran A, Chan LF, Martin L, Afshar F, Matson M, Plowman PN, Monson JP, Besser GM, Grossman AB, Savage MO and Storr HL (2009). Prepubertal Cushing's disease: diagnosis, management and therapeutic outcome. HORMONE RESEARCH vol. 72, 72-72.
Chan LF, Metherell LA, Krude H, Ball C, O'Riordan SM, Costigan C, Lynch SA, Savage MO, Cavarzere P and Clark AJ (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. Clin Endocrinol (Oxf) vol. 71, (2) 171-175.
2008
Chung TT, Webb TR, Chan LF, Cooray SN, Metherell LA, King PJ, Chapple JP and Clark AJL (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. J Clin Endocrinol Metab vol. 93, (12) 4948-4954.
Savage MO, Chan LF, Grossman AB and Storr HL (2008). Work-up and management of paediatric Cushing's syndrome. Curr Opin Endocrinol Diabetes Obes vol. 15, (4) 346-351.
O'Riordan SMP, Lynch SA, Hindmarsh PC, Chan LF, Clark AJL and Costigan C (2008). A novel variant of familial glucocorticoid deficiency prevalent among the Irish traveler population. J CLIN ENDOCR METAB vol. 93, (7) 2896-2899.
O'Riordan SMP, Lynch SA, Hindmarsh PC, Chan LF, Clark AJL and Costigan C (2008). A novel variant of familial glucorticoid deficiency prevalent among the Irish traveler population. J Clin Endocrinol Metab. vol. 93, (7) 2896-2899.
Chan LF, Clark AJL and Metherell LA (2008). Familial glucocorticoid deficiency: advances in the molecular understanding of ACTH action. Horm Res vol. 69, (2) 75-82.
Cooray SN, Chan L, Metherell L, Storr H and Clark AJL (2008). Adrenocorticotropin resistance syndromes. Endocr Dev vol. 13, 99-116.
Storr H, Alexandraki K, Chan L, Martin L, Monson J, Besser M, Grossman A and Savage M (2008). Comparisons in the epidemiology and diagnostic features between paediatric and adult Cushing's disease. HORM RES vol. 70, 24-25.
Chan L, Chung TT, Massoud A, Metherell L and Clark A (2008). Functional consequence of two opposing MC2R mutations in a child with severe FGD phenotype. HORM RES vol. 70, 23-23.
Savage MO, Chan LF, Afshar F, Plowman PN, Grossman AB and Storr HL (2008). Advances in the management of paediatric Cushing's disease. Horm Res vol. 69, (6) 327-333.
2007
Chan LF, Storr HL, Grossman AB and Savage MO (2007). Pediatric Cushing's syndrome: clinical features, diagnosis, and treatment. Arq Bras Endocrinol Metabol vol. 51, (8) 1261-1271.
Storr HL, Chan LF, Grossman AB and Savage MO (2007). Paediatric Cushing's syndrome: epidemiology, investigation and therapeutic advances. TRENDS ENDOCRIN MET vol. 18, (4) 167-174.
Chan LF, Storr HL, Plowman PN, Perry LA, Besser GM, Grossman AB and Savage MO (2007). Long-term anterior pituitary function in patients with paediatric Cushing's disease treated with pituitary radiotherapy. EUR J ENDOCRINOL vol. 156, (4) 477-482.
Savage MO, Storr HL, Chan LF and Grossman AB (2007). Diagnosis and treatment of pediatric Cushing's disease. Pituitary vol. 10, (4) 365-371.
2006
Metherell LA, Chan LF and Clark AJL (2006). The genetics of ACTH resistance syndromes. Best Pract Res Clin Endocrinol Metab vol. 20, (4) 547-560.
Chan L, Storr H, Plowman PN, Perry L, Monson J, Besser GM, Grossman A and Savage M (2006). Anterior pituitary function in the long-term follow-up of five paediatric Cushing's disease patients treated with pituitary radiotherapy. HORM RES vol. 65, 186-186.
2004
Chan LF, Storr HL, Scheimberg I, Perry LA, Banerjee K, Miraki-Moud F, Camacho-Hubner C and Savage MO (2004). Pseudo-precocious puberty caused by a juvenile granulosa cell tumor secreting androstenedione, inhibin and insulin-like growth factor-I. J PEDIATR ENDOCR MET vol. 17, (4) 679-684.
Chan L and Hodes D (2004). When is an abnormal frenulum a sign of child abuse? Arch Dis Child vol. 89, (3)
Grants
Grants of specific relevance to Predictive in vitro Models
Studying Genetic Predisposition Towards Obesity in Down Syndrome Using Polygenic Risk Scores
Li Chan and Panagiotis Deloukas
£151,868 Daphne Jackson Trust, the (02-05-2023 - 01-05-2026)
Li Chan and Panagiotis Deloukas
£151,868 Daphne Jackson Trust, the (02-05-2023 - 01-05-2026)
Investigating the mechanism of adrenal insufficiency in individuals with porphyria
Louise Metherell and Li Chan
£331,824 MRC Medical Research Council (14-02-2023 - 13-02-2026)
Louise Metherell and Li Chan
£331,824 MRC Medical Research Council (14-02-2023 - 13-02-2026)
Adrenal insufficiency in association with mutations in genes causing porphyria
Louise Metherell and Li Chan
£248,292 Barts and the London Charity (01-10-2022 - 31-03-2025)
Louise Metherell and Li Chan
£248,292 Barts and the London Charity (01-10-2022 - 31-03-2025)
Barts Metabolism Network -Regulating brown fat thermogenesis and white fat beigeing to treat obesity and its co-morbidities
Li Chan
£498,545 Barts and the London Charity (01-04-2022 - 31-03-2025)
Li Chan
£498,545 Barts and the London Charity (01-04-2022 - 31-03-2025)
Gene overdosage and comorbidities over early lifetime in Down Syndrome
£484,754 EU Commission - Horizon 2020 (01-01-2020 - 30-06-2025)
£484,754 EU Commission - Horizon 2020 (01-01-2020 - 30-06-2025)
Molecular characterisation of MC2R/MRAPantagonists for the treatment of ACTH excess inpituitary (MRC Icase)
Li Chan
£17,500 OMASS Therapeutics Ltd (21-09-2020 - 20-03-2024)
Li Chan
£17,500 OMASS Therapeutics Ltd (21-09-2020 - 20-03-2024)