Prof Li Chan

Li Chan

Professor of Molecular Endocrinology and Metabolism/Paediatric Endocrinologist

Centre for Endocrinology
Queen Mary University of London
www.qmul.ac.uk/whri/people/academic-staff/items/chanli.html
ORCID X

Research

Obesity, HPA, Melanocortin receptors, Accessory proteins, Appetite, Stress, Adrenal gland biology

Neuronal Models

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

solid heart iconPublications of specific relevance to Predictive in vitro Models

2025

Type 2 diabetes mellitus in people with intellectual disabilities: Examining incidence, risk factors, quality of care and related complications. A population-based matched cohort study
Baksh RA, Pape SE, Chan LF, Sheehan R, White A, Chauhan U, Gulliford MC, Strydom A
Diabetes Research and Clinical Practice, Elsevier vol. 222 
07-03-2025
Novel recurrent mutations and genetic diversity in Sudanese children with adrenal insufficiency
Musa SA, Abdullah MA, Hassan SS, Fauzi LS, Babiker OO, Ahmed AI, Mohammedali M, Hutchison C et al.
European Journal of Endocrinology, Oxford University Press (Oup) vol. 192 (3), 277-289.  
03-03-2025
Rare disease gene association discovery in the 100,000 Genomes Project
Cipriani V, Vestito L, Magavern EF, Jacobsen JOB, Arno G, Behr ER, Benson KA, Bertoli M et al.
Nature, Springer Nature, 1-9.  
26-02-2025
Characteristics of familial glucocorticoid deficiency (FGD) type-1 and 2: an update
Gregoriou K, Smith C, Metherell L, Chan L
Endocrine Abstracts, Bioscientifica 
19-02-2025
Investigating fertility in a down syndrome mouse model
Cullen F, Perez-Ternero C, Xu R, Consortium G-D, Chan L
Endocrine Abstracts, Bioscientifica 
19-02-2025
Imagine, Discover, Inspire: Proceedings of the 4th International Conference of the Trisomy 21 Research Society
Flores-Aguilar L, Hamlett ED, Araya P, Barone E, Bhattacharyya A, Carmona-Iragui M, Chan L, Christian B et al.
Neuromolecular Medicine, Springer Nature vol. 27 (1) 
01-01-2025

2024

Bariatric surgery in children with obesity and type 2 diabetes
Desai AP, Vaghani MS, Chan LF
The Lancet Diabetes & Endocrinology, Elsevier vol. 13 (2) 
19-12-2024
8482 Genetic Aetiology Of Primary Adrenal Insufficiency In Sudan
Smith CJ, Abdullah MA, Hassan SS, Fauzi LS, Qamar Y, Hall CL, Maitra S, Maharaj AV et al.
Journal of The Endocrine Society, The Endocrine Society vol. 8 (Supplement_1) 
05-10-2024
6569 An Increase, Rather Than Absolute Amount, Of Corticotropin-Releasing Hormone (Crh) Drives Mouse Anxiety-Like Behavior
Friedman HR, Gaston L, Chan L, Majzoub JA
Journal of The Endocrine Society, The Endocrine Society vol. 8 (Supplement_1) 
05-10-2024
Primary unilateral macronodular adrenal hyperplasia with concomitant glucocorticoid and androgen excess and KDM1A inactivation
Elhassan YS, Appenzeller S, Landwehr L-S, Lippert J, Popat D, Gilligan LC, Abdi L, Goh E et al.
European Journal of Endocrinology, Oxford University Press (Oup) vol. 191 (3), 334-344.  
22-08-2024
A Novel Maternally Inherited GNAS Variant in a Family With Hyperphagia and Obesity: 3 Cases
Ramakrishnan A, Popat D, Purushothaman P, Chan LF, Gevers EF
Jcem Case Reports, The Endocrine Society vol. 2 (8) 
24-07-2024
Primary unilateral macronodular adrenal hyperplasia with concomitant glucocorticoid and androgen excess and KDM1A inactivation
Elhassan Y, Appenzeller S, Landwehr L-S, Lippert J, Popat D, C. GL, Abdi L, Goh E et al.
Endocrine Abstracts, Bioscientifica 
06-05-2024

2023

A novel maternally inherited GNAS variant in a family with hyperphagia and obesity
Purushothaman P, Popat D, Ramakrishnan A, Chan L, Gevers E
Endocrine Abstracts, Bioscientifica 
01-11-2023
Gain-of-function mutation F278C in MC2R results in reduced beta-1-arrestin recruitment and increased cAMP implicating impairment of S280 phosphorylation
Popat D, Xu R, McCormick P, Chan L
Endocrine Abstracts, Bioscientifica 
31-10-2023
Primary unilateral macronodular adrenal hyperplasia (pumah) with concomitant glucocorticoid and androgen excess due to kdm1a activation and constitute mc2r activation
Elhassan Y, Appenzeller S, Landwehr L, Popat D, Gilligan L, Goh E, Diaz-Cano S, Kircher S et al.
Endocrine Abstracts, Bioscientifica 
31-10-2023
Adrenal insufficiency can be associated with biallelic mutations in porphyria genes
Smith C, Al-Salihi A, Janecke A, Steichen E, Banka S, Jackson A, Darby D, Griffin L et al.
Endocrine Abstracts, Bioscientifica 
31-10-2023
Genetic aetiology of primary adrenal insufficiency in Sudan
Smith C, Abdullah M, Hassan S, Fauzi L, Qamar Y, Hall C, Maitra S, Maharaj A et al.
Endocrine Abstracts, Bioscientifica 
31-10-2023
SAT292 Adrenal Insufficiency Associated With Biallelic Mutations In Porphyria Genes
Smith C, Jackson A, Al-Salihi A, Janecke A, Steichen E, Darby D, Griffin L, Banka S et al.
Journal of The Endocrine Society, The Endocrine Society vol. 7 (Supplement_1) 
05-10-2023
Genetic Aetiology of Primary Adrenal Insufficiency in Sudan
Smith C, Abdullah M, Hassan S, Qamar Y, Hall C, Maitra S, Maharaj A, Mariela MRL et al.
Endocrine Abstracts, Bioscientifica 
02-05-2023
Adrenal Insufficiency Associated with Biallelic Mutations in Porphyria Genes
Smith C, Jackson A, Al-Salihi A, Janecke A, Steichen E, Darby D, Griffin L, Banka S et al.
Endocrine Abstracts, Bioscientifica 
02-05-2023
769 Reduced expression of PPOX, the variegate porphyria gene, causes intrinsic pathological changes to keratinocytes
Smith CJ, Chan L, Metherell LA
Journal of Investigative Dermatology, Elsevier vol. 143 (5) 
01-05-2023
Multiple morbidity across the lifespan in people with Down syndrome or intellectual disabilities: a population-based cohort study using electronic health records
Baksh RA, Pape SE, Chan LF, Aslam AA, Gulliford MC, Strydom A, Consortium G-D
The Lancet Public Health, Elsevier vol. 8 (6), e453-e462.  
26-04-2023
Rare forms of genetic paediatric adrenal insufficiency: Excluding congenital adrenal hyperplasia
Hasenmajer V, Ferrigno R, Minnetti M, Pellegrini B, Isidori AM, Lenzi A, Salerno M, Cappa M et al.
Reviews in Endocrine and Metabolic Disorders, Springer Nature vol. 24 (2), 345-363.  
10-02-2023
C-type natriuretic peptide regulates metabolic homeostasis
Perez-Ternero C, Aubdool A, Makwana R, Sanger G, Stimson R, Chan L, Moyes A, Hobbs A
 
31-01-2023
C-type natriuretic peptide regulates metabolic homeostasis
Perez-Ternero C, Aubdool A, Makwana R, Sanger G, Stimson R, Chan L, Moyes A, Hobbs A
 
01-01-2023
Reduced expression of PPOX, the variegate porphyria gene, causes intrinsic pathological changes to keratinocytes
Smith CJ, Chan L, Metherell LA
 
01-01-2023
Insulin resistance and symptoms of depression in Down syndrome
Wells J, Elizalde MT, Saini F, Gomis-González M, Smida IB, Gamazo LF, Chan L, Delahaye AH et al.
Neuroscience Applied, Elsevier vol. 2 
01-01-2023

2022

RF33 | PSAT69 A Combined Candidate Gene/Whole Exome Sequencing Approach Permits a Rapid Genetic Diagnosis for >81% Individuals with Primary Adrenal Insufficiency.
Chan L, Smith C, Read J, Hall C, Maharaj A, Ramirez LM, Qamar Y, Hughes C et al.
Journal of The Endocrine Society, The Endocrine Society vol. 6 (Supplement_2), a140-a141.  
01-11-2022
Identification of a novel specific small-molecule melanocortin-2-receptor antagonist
Chan L
Endocrine Connections, Bioscientifica vol. 11 (12) 
31-10-2022
Diabetes and obesity in down syndrome across the lifespan: a retrospective cohort study using UK electronic health records
Aslam A, Baksh A, Pape S, Consortium G-D, Strydom A, Gulliford M, Chan L
Endocrine Abstracts, Bioscientifica 
17-10-2022
The lack of genotype: phenotype correlations in rare causes of primary adrenal insufficiency highlights the need for genetic testing
Maitra S, Smith C, Hall C, Read J, Maharaj AV, Mariela MRL, Qamar Y, Prasad R et al.
Endocrine Abstracts, Bioscientifica 
17-10-2022
Diabetes and obesity in Down Syndrome across the lifespan: a retrospective cohort study using UK electronic health records
Aslam A, Baksh A, Pape S, Strydom A, Gulliford M, Chan L
Diabetes Care, American Diabetes Association 
30-09-2022
Platelet-derived growth factor D expression in adrenal cells is modulated by corticosteroids: putative role in adrenal suppression
Parry CM, Chan LF, Carr DF, Hawcutt DB
Pediatric Research, Springer Nature vol. 93 (1), 97-101.  
14-05-2022
A rapid genetic diagnosis for >80% individuals with non-CAH Primary Adrenal Insufficiency is achievable by candidate gene sequencing combined with WES
Smith C, Read J, Hall C, Maharaj A, Marroquin RL, Qamar Y, Hughes C, Clark A et al.
Endocrine Abstracts, Bioscientifica 
07-05-2022
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
Baksh RA, Strydom A, Pape SE, Chan LF, Gulliford MC
Journal of General Internal Medicine, Springer Nature vol. 37 (8), 2009-2015.  
06-04-2022
C-type natriuretic peptide is a pivotal regulator of metabolic homeostasis
Perez-Ternero C, Aubdool AA, Makwana R, Sanger GJ, Stimson RH, Chan LF, Moyes AJ, Hobbs AJ
Proceedings of The National Academy of Sciences, Proceedings of The National Academy of Sciences vol. 119 (13) 
25-03-2022
Genetics of Adrenal Insufficiency
Chan LF, Ramachandrappa S
In Oxford Textbook of Endocrinology and Diabetes 3e, Oxford University Press (Oup) 901-911.  
01-01-2022
Clinical and Genetic characterization of primary adrenal insufficiency in Sudanese children
Musa SA, Abdullah MA, Hassan SS, Qamar Y, Hall C, Maitra S, Maharaj AV, Ramirez LMM et al.
 
01-01-2022
Multiple Morbidity Across the Lifespan in People with Down Syndrome or Intellectual Disability: Population-Based Cohort Study Using Electronic Health Records
Baksh RA, Pape SE, Chan LF, Aslam AA, Gulliford MC, Strydom A, Consortium G-D
The Lancet Public Health, Elsevier 
01-01-2022

2021

In vitro splicing assay proves the pathogenicity of intronic variants in MRAP
Smith C, Maharaj A, Qamar Y, Read J, Williams J, Marimuthu V, Chan L, Metherell L
Endocrine Abstracts, Bioscientifica 
18-10-2021
Structure reveals the activation mechanism of the MC4 receptor to initiate satiation signalling
H I, O D, F F, V C, AK G, NJ R, J B, V P et al.
, Bioscientifica 
15-09-2021
Missplicing due to a synonymous, T96= exonic substitution in the T-box transcription factor TBX19 resulting in isolated ACTH deficiency
Maudhoo A, Maharaj A, Buonocore F, Martos-Moreno GA, Argente J, Achermann JC, Chan LF, Metherell LA
Endocrinology Diabetes and Metabolism Case Reports, Bioscientifica vol. 2021, 21-0128.  
01-09-2021
To eat or not to eat: cryo-EM structure of melanocortin receptor 4 reveals mechanism of a 'hunger switch' initiating satiety signalling
Degtjarik O, Israeli H, Chan LF, Ben-Zvi D, Niv MY, McCormick PJ, Shalev-Benami M
Acta Crystallographica Section a: Foundations and Advances, International Union of Crystallography (Iucr) vol. 77 (a2), c480-c480.  
14-08-2021
Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK
Buonocore F, Maharaj A, Qamar Y, Koehler K, Suntharalingham JP, Chan LF, Ferraz-De-Souza B, Hughes CR et al.
Journal of The Endocrine Society vol. 5 (8) 
01-08-2021
In Vitro Splicing Assay Proves the Pathogenicity of Intronic Variants in MRAP
Smith C, Maharaj AV, Qamar Y, Read J, Williams J, Chan L, Marimuthu V, Metherell L
Journal of The Endocrine Society vol. 5 (Suppl 1), a85-a86.  
03-05-2021
Structure reveals the activation mechanism of the MC4 receptor to initiate satiation signaling
Israeli H, Degtjarik O, Fierro F, Chunilal V, Gill AK, Roth NJ, Botta J, Prabahar V et al.
Science, American Association For The Advancement of Science (Aaas) vol. 372 (6544), 808-814.  
15-04-2021
INCREASED SUSCEPTIBILITY OF COVID-19 DIAGNOSIS IN DOWN SYNDROME COMPARED TO THE GENERAL POPULATION
Baksh RA, Pape SE, Chan L, Gulliford M, Strydom A
 
01-01-2021
Genetic analysis of paediatric primary adrenal insufficiency of unknown aetiology over 25 years
Buonocore F, Maharaj A, Qamar Y, Koehler K, Suntharalingham JP, Chan LF, Ferraz-de-Souza B, Hughes CR et al.
 
01-01-2021

2020

Sphingosine-1-phosphate lyase (SGPL1) deficiency is associated with mitochondrial dysfunction
Maharaj A, Williams J, Bradshaw T, Güran T, Braslavsky D, Casas J, Chan LF, Metherell LA et al.
The Journal of Steroid Biochemistry and Molecular Biology, Elsevier vol. 202 
16-07-2020

2019

Rare causes of primary adrenal insufficiency (PAI) in children from Sudan
Qamar Y, Maharaj A, Chan L, AbdulBagi S, Abdullah M, Metherell L
Endocrine Abstracts, Bioscientifica 
11-11-2019
Twenty-five years of familial glucocorticoid deficiency: genotypic and phenotypic variability
Smith C, Maharaj A, Prasad R, Hughes C, Qamar Y, Clark A, Chan L, Metherell L
Endocrine Abstracts, Bioscientifica 
06-11-2019
Splice-site mutations in the melanocortin-2 receptor accessory protein that lead to early-onset familial glucocorticoid deficiency type 2
Qamar Y, Maharaj A, Chan L, Deeb A, Metherell L
Endocrine Abstracts, Bioscientifica 
06-11-2019
Stability and Turnover of the ACTH Receptor Complex
Clark AJL, Chan L
Frontiers in Endocrinology, Frontiers vol. 10 
26-07-2019
ACTH signalling and adrenal development: lessons from mouse models
Novoselova TV, King PJ, Guasti L, Metherell LA, Clark AJL, Chan LF
Endocrine Connections, Bioscientifica vol. -1 (aop), r122-r130.  
10-06-2019
Isolated glucocorticoid deficiency: Genetic causes and animal models
Maharaj A, Maudhoo A, Chan LF, Novoselova T, Prasad R, Metherell LA, Guasti L
Journal of Steroid Biochemistry and Molecular Biology vol. 189, 73-80.  
01-05-2019
Genetics of Familial Glucocorticoid Deficiency over the Decades: Phenotypic Variability and Associated Features
Smith CJ, Maharaj AV, Prasad R, Hughes CR, Clark AJL, Chan LF, Metherell LA
 
01-01-2019

2018

Missplicing due to a silent exonic substitution in the T-box transcription factor TBX19 resulting in Isolated ACTH deficiency
Maudhoo A, Maharaj A, Buonocore F, Martos-Moreno GA, Argente J, Achermann J, Chan L, Metherell L
Endocrine Abstracts, Bioscientifica 
02-11-2018
Identification and characterisation of a small-molecule ACTH receptor/Melanocortin-2-receptor antagonist
Chan L, Hussain M, Forfar R, Khurana P, Cook J, Lewis S, McIver E, Jerman J et al.
Endocrine Abstracts, Bioscientifica 
18-10-2018
Overexpression of Melanocortin 2 Receptor Accessory Protein 2 (MRAP2) in adult paraventricular MC4R neurons regulates energy intake and expenditure
Bruschetta G, Kim JD, Diano S, CHAN L
Molecular Metabolism, Elsevier 
04-10-2018
Sphingosine-1-Phosphate Lyase (SGPL1) Deficiency Is Associated with Mitochondrial Dysfunction
Maharaj A, Bradshaw T, Williams J, Guran T, Braslavsky D, Bruegger B, Metherell L, Prasad R
57th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE) Athens, Greece 27 Sep 2018 - 29 Sep 2018. 
14-09-2018
MRAP deficiency impairs adrenal progenitor cell differentiation and gland zonation
Novoselova TV, Hussain M, King PJ, Guasti L, Metherell LA, Charalambous M, Clark AJL, Chan LF
The Faseb Journal, Wiley vol. 32 (11), 6186-6196.  
07-06-2018
Pathophysiology of melanocortin receptors and their accessory proteins.
Novoselova TV, Chan LF, Clark AJL
Best Pract Res Clin Endocrinol Metab vol. 32 (2), 93-106.  
01-04-2018

2017

Promiscuity among the MRAPs
Clark AJL, Chan LF
Journal of Molecular Endocrinology, Bioscientifica vol. 58 (3), F1-F4.  
01-04-2017

2016

A central role for melanocortin-4 receptors in offspring hypertension arising from maternal obesity
CHAN L
Proceedings of The National Academy of Sciences of Usa, National Academy of Sciences 
06-10-2016
ACTH Antagonists
Clark AJ, Forfar R, Hussain M, Jerman J, McIver E, Taylor D, Chan L
Frontiers in Endocrinology, Frontiers Media vol. 7 
05-08-2016
Loss of Mrap2 is associated with Sim 1 deficiency and increased circulating cholesterol
Novoselova TV, Larder R, Rimmington D, Lelliott C, Wynn E, Gorrigan RJ, Tate P, Guasti L et al.
Journal of Endocrinology, JOE-16-0057-JOE-16-0057.  
22-04-2016

2015

Molecular diagnosis of patients with adrenal insufficiency using a targeted custom Haloplex next-generation sequencing panel
Buonocore F, Chan L, Achermann J, Metherell L
Endocrine Abstracts, Bioscientifica 
12-10-2015
Whole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in Children
Chan LF, Campbell DC, Novoselova TV, Clark AJL, Metherell LA
Frontiers in Endocrinology, Frontiers vol. 6 
05-08-2015
Melanocortin receptor accessory proteins in adrenal disease and obesity
Jackson DS, Ramachandrappa S, Clark AJ, Chan LF
Frontiers in Neuroscience, Frontiers vol. 9 
10-06-2015
NNT Pseudoexon Activation as a Novel Mechanism for Disease in Two Siblings With Familial Glucocorticoid Deficiency
Novoselova TV, Rath SR, Carpenter K, Pachter N, Dickinson JE, Price G, Chan LF, Choong CS et al.
Journal of Clinical Endocrinology & Metabolism, Endocrine Society vol. 100 (2), E350-E354.  
01-02-2015

2014

Melanocortin 2 receptor accessory protein 2 (Mrap2) regulates hypothalamic melanocortin-4-receptor trafficking in vivo
Novoselova T, Larder R, Rimmington D, Lelliott C, Wynn E, O'Rahilly S, Clark A, Logan D et al.
Endocrine Abstracts, Bioscientifica 
14-10-2014
cDNA analysis reveals NNT pseudoexon activation in two siblings with familial glucocorticoid deficiency
Chan L, Novoselova T, Rath S, Carpenter K, Pachter N, Price G, Dickinson J, Choong C et al.
Endocrine Abstracts, Bioscientifica 
14-10-2014
Varied clinical presentations of six patients with mutations in CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450scc
Novoselova T, Spoudeas H, Huebner A, Cheetham T, Chan L, Metherell L
Endocrine Abstracts, Bioscientifica 
14-10-2014
Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD).
Prasad R, Chan LF, Hughes CR, Kaski JP, Kowalczyk JC, Savage MO, Peters CJ, Nathwani N et al.
J Clin Endocrinol Metab vol. 99 (8), E1556-E1563.  
01-08-2014

2013

Loss of Function of the Melanocortin 2 Receptor Accessory Protein 2 Is Associated with Mammalian Obesity
Asai M, Ramachandrappa S, Joachim M, Shen Y, Zhang R, Nuthalapati N, Ramanathan V, Strochlic DE et al.
Science, American Association For The Advancement of Science vol. 341 (6143), 275-278.  
19-07-2013
Familial glucocorticoid deficiency: New genes and mechanisms.
Meimaridou E, Hughes CR, Kowalczyk J, Guasti L, Chapple JP, King PJ, Chan LF, Clark AJL et al.
Mol Cell Endocrinol vol. 371 (1-2), 195-200.  
22-05-2013
Familial glucocorticoid deficiency: New genes and mechanisms
Meimaridou E, Hughes CR, Kowalczyk J, Guasti L, Chapple JP, King PJ, Chan LF, Clark AJL et al.
Molecular and Cellular Endocrinology vol. 371 (1-2), 195-200.  
22-05-2013
Melanocortin receptor accessory proteins in adrenal gland physiology and beyond.
Novoselova TV, Jackson D, Campbell DC, Clark AJL, Chan LF
J Endocrinol vol. 217 (1), R1-11.  
01-04-2013
A mutation in thioredoxin reductase 2 (TXNRD2) is associated with a predominantly adrenal phenotype in humans
Prasad R, Hughes C, Chan L, Peters C, Nathwani N, Clark A, Storr H, Metherell L
Endocrine Abstracts, Bioscientifica, 1-1.  
01-03-2013
ACTH resistance: genes and mechanisms.
Meimaridou E, Hughes CR, Kowalczyk J, Chan LF, Clark AJL, Metherell LA
Endocr Dev vol. 24, 57-66.  
01-01-2013
The melanocortin receptors and their accessory proteins.
Ramachandrappa S, Gorrigan RJ, Clark AJL, Chan LF
Front Endocrinol (Lausanne) vol. 4 
01-01-2013

2011

Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory protein.
Jain V, Metherell LA, David A, Sharma R, Sharma PK, Clark AJL, Chan LF
Eur J Endocrinol vol. 165 (6), 987-991.  
01-12-2011
Effects of melanocortins on adrenal gland physiology
Chan LF, Metherell LA, Clark AJL
Eur J Pharmacol vol. 660 (1), 171-180.  
11-06-2011
Localisation of the melanocortin-2-receptor and its accessory proteins in the developing and adult adrenal gland.
Gorrigan RJ, Guasti L, King P, Clark AJ, Chan LF
J Mol Endocrinol vol. 46 (3), 227-232.  
01-06-2011
Use of intravenous etomidate to control acute psychosis induced by the hypercortisolaemia in severe paediatric Cushing's disease.
Chan LF, Vaidya M, Westphal B, Allgrove J, Martin L, Afshar F, Hindmarsh PC, Savage MO et al.
Horm Res Paediatr vol. 75 (6), 441-446.  
01-01-2011

2010

Signal transduction in child health: closing the gap between clinical and basic research.
Chan L, Albertsson-Wikland K, Camacho-Hübner C, Hochberg Z
Sci Signal vol. 3 (143) 
12-10-2010
Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2.
Chung T-TLL, Chan LF, Metherell LA, Clark AJL
Clin Endocrinol (Oxf) vol. 72 (5), 589-594.  
01-05-2010
Diagnosis, management and therapeutic outcome in prepubertal Cushing's disease.
Dias RP, Kumaran A, Chan LF, Martin L, Afshar F, Matson M, Plowman PN, Monson JP et al.
Eur J Endocrinol vol. 162 (3), 603-609.  
01-03-2010
Isolated Addison's disease is unlikely to be caused by mutations in MC2R, MRAP or STAR, three genes responsible for familial glucocorticoid deficiency.
Dias RP, Chan LF, Metherell LA, Pearce SHS, Clark AJL
Eur J Endocrinol vol. 162 (2), 357-359.  
01-02-2010
Use of Intravenous Etomidate in a Child To Control Acute Psychosis Induced by the Hypercortisolemia Secondary to Severe Cushing's Disease.
Chan LF, Hughes CR, Allgrove JA, Martin L, Afshar F, Hindmarsh PC, Savage MO, Grossman AB et al.
 
01-01-2010
Diagnosis and Treatment of Cushing’s Disease in Children
Savage MO, Dias RP, Chan LF, Afshar F, Plowman PN, Matson M, Grossman AB, STORR HL
In Pediatric Neuroendocrinology, Karger Publishers 
01-01-2010
Diagnosis and treatment of Cushing's disease in children.
Savage MO, Dias RP, Chan LF, Afshar F, Plowman NP, Matson M, Grossman AB, Storr HL
Endocr Dev vol. 17, 134-145.  
01-01-2010

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.
Chan LF, Metherell LA, Krude H, Ball C, O'Riordan SMP, Costigan C, Lynch SA, Savage MO et al.
Clin Endocrinol (Oxf) vol. 71 (2), 171-175.  
01-08-2009
MRAP and MRAP2 are bidirectional regulators of the melanocortin receptor family.
Chan LF, Webb TR, Chung T-T, Meimaridou E, Cooray SN, Guasti L, Chapple JP, Egertová M et al.
Proc Natl Acad Sci U S A vol. 106 (15), 6146-6151.  
14-04-2009
Functional consequence of a novel Y129C mutation in a patient with two contradictory melanocortin-2-receptor mutations.
Chan LF, Chung T-T, Massoud AF, Metherell LA, Clark AJL
Eur J Endocrinol vol. 160 (4), 705-710.  
01-04-2009
The genetics of familial glucocorticoid deficiency.
Clark AJL, Chan LF, Chung T-T, Metherell LA
Best Pract Res Clin Endocrinol Metab vol. 23 (2), 159-165.  
01-04-2009
Accessory proteins are vital for the functional expression of certain G protein-coupled receptors.
Cooray SN, Chan L, Webb TR, Metherell L, Clark AJL
Mol Cell Endocrinol vol. 300 (1-2), 17-24.  
05-03-2009
Distinct melanocortin 2 receptor accessory protein domains are required for melanocortin 2 receptor interaction and promotion of receptor trafficking.
Webb TR, Chan L, Cooray SN, Cheetham ME, Chapple JP, Clark AJL
Endocrinology vol. 150 (2), 720-726.  
01-02-2009
Genotype:phenotype relationships in familial glucocorticoid deficiency types 1 and 2
Metherell LA, Chung TT, Chan LF, Clark AJL
Horm Res vol. 72, 211-211.  
01-01-2009
A novel splice mutation (IVSds3+3insTA) in the melanocortin 2 receptor accessory protein that leads to skipping of exon 3
Chan LF, David A, Jain V, Clark AJL, Metherell LA
Horm Res vol. 72, 70-70.  
01-01-2009
Prepubertal Cushing's disease: diagnosis, management and therapeutic outcome
Dias RP, Kumaran A, Chan LF, Martin L, Afshar F, Matson M, Plowman PN, Monson JP et al.
Hormone Research vol. 72, 72-72.  
01-01-2009
Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiency
Chan LF, Metherell LA, Krude H, Ball C, O'Riordan SM, Costigan C, Lynch SA, Savage MO et al.
Clin Endocrinol (Oxf) vol. 71 (2), 171-175.  
01-01-2009

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.
Chung TT, Webb TR, Chan LF, Cooray SN, Metherell LA, King PJ, Chapple JP, Clark AJL
J Clin Endocrinol Metab vol. 93 (12), 4948-4954.  
01-12-2008
Work-up and management of paediatric Cushing's syndrome.
Savage MO, Chan LF, Grossman AB, Storr HL
Curr Opin Endocrinol Diabetes Obes vol. 15 (4), 346-351.  
01-08-2008
A novel variant of familial glucocorticoid deficiency prevalent among the Irish traveler population
O'Riordan SMP, Lynch SA, Hindmarsh PC, Chan LF, Clark AJL, Costigan C
J Clin Endocr Metab vol. 93 (7), 2896-2899.  
01-07-2008
A novel variant of familial glucorticoid deficiency prevalent among the Irish traveler population
O'Riordan SMP, Lynch SA, Hindmarsh PC, Chan LF, Clark AJL, Costigan C
J Clin Endocrinol Metab. vol. 93 (7), 2896-2899.  
01-01-2008
Familial glucocorticoid deficiency: advances in the molecular understanding of ACTH action.
Chan LF, Clark AJL, Metherell LA
Horm Res vol. 69 (2), 75-82.  
01-01-2008
Adrenocorticotropin resistance syndromes.
Cooray SN, Chan L, Metherell L, Storr H, Clark AJL
Endocr Dev vol. 13, 99-116.  
01-01-2008
Comparisons in the epidemiology and diagnostic features between paediatric and adult Cushing's disease
Storr H, Alexandraki K, Chan L, Martin L, Monson J, Besser M, Grossman A, Savage M
Horm Res vol. 70, 24-25.  
01-01-2008
Functional consequence of two opposing MC2R mutations in a child with severe FGD phenotype
Chan L, Chung TT, Massoud A, Metherell L, Clark A
Horm Res vol. 70, 23-23.  
01-01-2008
Advances in the management of paediatric Cushing's disease.
Savage MO, Chan LF, Afshar F, Plowman PN, Grossman AB, Storr HL
Horm Res vol. 69 (6), 327-333.  
01-01-2008

2007

Pediatric Cushing's syndrome: clinical features, diagnosis, and treatment.
Chan LF, Storr HL, Grossman AB, Savage MO
Arq Bras Endocrinol Metabol vol. 51 (8), 1261-1271.  
01-11-2007
Paediatric Cushing's syndrome: epidemiology, investigation and therapeutic advances
Storr HL, Chan LF, Grossman AB, Savage MO
Trends Endocrin Met vol. 18 (4), 167-174.  
01-05-2007
Long-term anterior pituitary function in patients with paediatric Cushing's disease treated with pituitary radiotherapy
Chan LF, Storr HL, Plowman PN, Perry LA, Besser GM, Grossman AB, Savage MO
Eur J Endocrinol vol. 156 (4), 477-482.  
01-04-2007
Diagnosis and treatment of pediatric Cushing's disease.
Savage MO, Storr HL, Chan LF, Grossman AB
Pituitary vol. 10 (4), 365-371.  
01-01-2007

2006

The genetics of ACTH resistance syndromes.
Metherell LA, Chan LF, Clark AJL
Best Pract Res Clin Endocrinol Metab vol. 20 (4), 547-560.  
01-12-2006
Anterior pituitary function in the long-term follow-up of five paediatric Cushing's disease patients treated with pituitary radiotherapy
Chan L, Storr H, Plowman PN, Perry L, Monson J, Besser GM, Grossman A, Savage M
Horm Res vol. 65, 186-186.  
01-01-2006

2004

Pseudo-precocious puberty caused by a juvenile granulosa cell tumor secreting androstenedione, inhibin and insulin-like growth factor-I
Chan LF, Storr HL, Scheimberg I, Perry LA, Banerjee K, Miraki-Moud F, Camacho-Hubner C, Savage MO
J Pediatr Endocr Met vol. 17 (4), 679-684.  
01-04-2004
When is an abnormal frenulum a sign of child abuse?
Chan L, Hodes D
Arch Dis Child vol. 89 (3) 
01-01-2004

Grants

solid heart iconGrants of specific relevance to Predictive in vitro Models
bullet iconSCHOOL-AGE PHYSIOLOGICAL FUNCTION FOLLOWING EARLY-LIFE STUNTING AMONG CHILDREN IN RURAL ZIMBABWE
Andrew Prendergast, Jesmond Dalli, Jonathan Grigg, Melanie Smuk, Priyanthi Dias, Li Chan and Zudin Puthucheary
£457,573 MRC Medical Research Council
01-11-2023 - 31-10-2026
bullet iconStudying 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
bullet iconFructose is a metabolic and inflammatory pathogenic factor in non-alcoholic steatohepatitis
William Alazawi, Dunja Aksentijevic, Katiuscia Bianchi, Li Chan and Sian Henson
£419,496 Barts and the London Charity
01-04-2023 - 31-03-2026
solid heart iconInvestigating the mechanism of adrenal insufficiency in individuals with porphyria
Lou Metherell and Li Chan
£331,824 MRC Medical Research Council
14-02-2023 - 13-02-2026
bullet iconBarts Metabolism Network -Regulating brown fat thermogenesis and white fat beigeing to treat obesity and its co-morbidities
Li Chan
£553,519 Barts and the London Charity
01-04-2022 - 04-01-2027
bullet iconAn interdisciplinary ageing alliance: cellular metabolism over a life-course in socioeconomic disadvantaged populations
Sian Henson and Li Chan
£303,102 Biotechnology and Biological Sciences Research Council
14-02-2022 - 31-10-2025
bullet iconObesity and Type 2 Diabetes in Down Syndrome
Christoph Thiemermann and Li Chan
£118,119 WHRL William Harvey Research Limited
01-09-2021 - 31-12-2025

bullet iconAdrenal induction of Phe catabolism fuels catecholamine biosynthesis in obstructive sleep apnoea leading to cardiovascular disease
Gabor Czibik, Li Chan and Leonardo Guasti
£74,101 Barts and the London Charity
01-01-2024 - 02-07-2025
solid heart iconAdrenal insufficiency in association with mutations in genes causing porphyria
Lou Metherell and Li Chan
£248,292 Barts and the London Charity
01-10-2022 - 31-03-2025
bullet iconDeveloping a novel compound to treat obesity
Peter McCormick, Li Chan and Lesley Howell
£29,247 Barts and the London Charity
01-02-2021 - 31-01-2022
bullet iconMolecular 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
bullet iconAdrenal dysfunction and obesity in Down Syndrome
Li Chan
£111,566 Wellcome Trust
20-01-2020 - 20-10-2021
bullet iconGene overdosage and comorbidities over early lifetime in Down Syndrome
Li Chan
£484,754 EU Commission - Horizon 2020
01-01-2020 - 30-06-2025
bullet iconThe investigation of novel genetic causes of adrenal insufficiency
Li Chan
£4,000 Barts and the London Charity
08-08-2019 - 07-05-2020
bullet iconIn vivo characterisation of ACTH receptor antagonists
Li Chan
£19,478 Barts and the London Charity
01-01-2019 - 31-12-2020
bullet iconAdrenal rescue of Familial Glucocorticoid Deficiency using donor specific reprogrammed cells in mice
Li Chan
£10,000 BSPED British Society of Paediatric Endocrinology and Diabetes
01-12-2018 - 30-11-2020
solid heart iconImproved genetic diagnosis of primary adrenal insufficiency
Lou Metherell, Helen Storr and Li Chan
£525,022 Barts and the London Charity
01-08-2018 - 31-01-2023
solid heart iconIn vivo characterisation of ACTH rececptor antagonists
Li Chan
£76,780 ESPE European Society for Paediatric Endocrinology
30-07-2018 - 30-06-2021