Publications: Dr Li Chan

Friedman HR, Gaston L, Chan L, Majzoub JA ( 2024 ) . 6569 An Increase, Rather Than Absolute Amount, Of Corticotropin-Releasing Hormone (Crh) Drives Mouse Anxiety-Like Behavior . 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 et al. ( 2024 ) . 8482 Genetic Aetiology Of Primary Adrenal Insufficiency In Sudan . 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 et al. ( 2024 ) . Primary unilateral macronodular adrenal hyperplasia with concomitant glucocorticoid and androgen excess and KDM1A inactivation . European Journal of Endocrinology vol. 191 , ( 3 ) 334 - 344 .

Ramakrishnan A, Popat D, Purushothaman P, Chan LF, Gevers EF ( 2024 ) . A Novel Maternally Inherited GNAS Variant in a Family With Hyperphagia and Obesity: 3 Cases . JCEM Case Reports vol. 2 , ( 8 )

Elhassan Y, Appenzeller S, Landwehr L-S, Lippert J, Popat D, C. GL, Abdi L, Goh E et al. ( 2024 ) . Primary unilateral macronodular adrenal hyperplasia with concomitant glucocorticoid and androgen excess and KDM1A inactivation . Endocrine Abstracts

Purushothaman P, Popat D, Ramakrishnan A, Chan L, Gevers E ( 2023 ) . A novel maternally inherited GNAS variant in a family with hyperphagia and obesity . Endocrine Abstracts

Popat D, Xu R, McCormick P, 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 . Endocrine Abstracts

Smith C, Abdullah M, Hassan S, Fauzi L, Qamar Y, Hall C, Maitra S, Maharaj A et al. ( 2023 ) . Genetic aetiology of primary adrenal insufficiency in Sudan . Endocrine Abstracts

Elhassan Y, Appenzeller S, Landwehr L, Popat D, Gilligan L, Goh E, Diaz-Cano S, Kircher S et al. ( 2023 ) . Primary unilateral macronodular adrenal hyperplasia (pumah) with concomitant glucocorticoid and androgen excess due to kdm1a activation and constitute mc2r activation . Endocrine Abstracts

Smith C, Jackson A, Al-Salihi A, Janecke A, Steichen E, Darby D, Griffin L, Banka S et al. ( 2023 ) . SAT292 Adrenal Insufficiency Associated With Biallelic Mutations In Porphyria Genes . Journal of the Endocrine Society vol. 7 , ( Supplement_1 )

Smith C, Jackson A, Al-Salihi A, Janecke A, Steichen E, Darby D, Griffin L, Banka S et al. ( 2023 ) . Adrenal Insufficiency Associated with Biallelic Mutations in Porphyria Genes . Endocrine Abstracts

Smith C, Abdullah M, Hassan S, Qamar Y, Hall C, Maitra S, Maharaj A, Mariela MRL et al. ( 2023 ) . Genetic Aetiology of Primary Adrenal Insufficiency in Sudan . Endocrine Abstracts

Smith CJ, Chan L, Metherell LA ( 2023 ) . 769 Reduced expression of PPOX, the variegate porphyria gene, causes intrinsic pathological changes to keratinocytes . Journal of Investigative Dermatology vol. 143 , ( 5 )

Baksh RA, Pape SE, Chan LF, Aslam AA, Gulliford MC, Strydom A, 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 . 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 et al. ( 2023 ) . Rare forms of genetic paediatric adrenal insufficiency: Excluding congenital adrenal hyperplasia . Reviews in Endocrine and Metabolic Disorders vol. 24 , ( 2 ) 345 - 363 .

Perez-Ternero C, Aubdool A, Makwana R, Sanger G, Stimson R, Chan L, Moyes A, Hobbs A ( 2023 ) . C-type natriuretic peptide regulates metabolic homeostasis . JOURNAL OF TRANSLATIONAL MEDICINE . vol. 21 ,

Perez-Ternero C, Aubdool A, Makwana R, Sanger G, Stimson R, Chan L, Moyes A, Hobbs A ( 2023 ) . C-type natriuretic peptide regulates metabolic homeostasis . JOURNAL OF TRANSLATIONAL MEDICINE . vol. 21 ,

Wells J, Elizalde MT, Saini F, Gomis-González M, Smida IB, Gamazo LF, Chan L, Delahaye AH et al. ( 2023 ) . Insulin resistance and symptoms of depression in Down syndrome . Neuroscience Applied vol. 2 ,

Smith CJ, Chan L, Metherell LA ( 2023 ) . Reduced expression of PPOX, the variegate porphyria gene, causes intrinsic pathological changes to keratinocytes . JOURNAL OF INVESTIGATIVE DERMATOLOGY . vol. 143 , S132 - S132 .

Chan L, Smith C, Read J, Hall C, Maharaj A, Ramirez LM, Qamar Y, Hughes C 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 . 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 . Endocrine Connections vol. 11 , ( 12 )

Aslam A, Baksh A, Pape S, Consortium G-D, Strydom A, Gulliford M, Chan L ( 2022 ) . Diabetes and obesity in down syndrome across the lifespan: a retrospective cohort study using UK electronic health records . Endocrine Abstracts

Maitra S, Smith C, Hall C, Read J, Maharaj AV, Mariela MRL, Qamar Y, Prasad R et al. ( 2022 ) . The lack of genotype: phenotype correlations in rare causes of primary adrenal insufficiency highlights the need for genetic testing . Endocrine Abstracts

Aslam A, Baksh A, Pape S, Strydom A, Gulliford M, Chan L ( 2022 ) . Diabetes and obesity in Down Syndrome across the lifespan: a retrospective cohort study using UK electronic health records . Diabetes Care

Parry CM, Chan LF, Carr DF, Hawcutt DB ( 2022 ) . Platelet-derived growth factor D expression in adrenal cells is modulated by corticosteroids: putative role in adrenal suppression . Pediatric Research vol. 93 , ( 1 ) 97 - 101 .

Smith C, Read J, Hall C, Maharaj A, Marroquin RL, Qamar Y, Hughes C, Clark A et al. ( 2022 ) . A rapid genetic diagnosis for >80% individuals with non-CAH Primary Adrenal Insufficiency is achievable by candidate gene sequencing combined with WES . Endocrine Abstracts

Baksh RA, Strydom A, Pape SE, Chan LF, 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 . 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, Hobbs AJ ( 2022 ) . C-type natriuretic peptide is a pivotal regulator of metabolic homeostasis . Proceedings of the National Academy of Sciences of the United States of America vol. 119 , ( 13 )

Musa SA, Abdullah MA, Hassan SS, Qamar Y, Hall C, Maitra S, Maharaj AV, Ramirez LMM et al. ( 2022 ) . Clinical and Genetic characterization of primary adrenal insufficiency in Sudanese children . HORMONE RESEARCH IN PAEDIATRICS . vol. 95 , 114 - 115 .

Chan LF, 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, 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 . The Lancet Public Health

Smith C, Maharaj A, Qamar Y, Read J, Williams J, Marimuthu V, Chan L, Metherell L ( 2021 ) . In vitro splicing assay proves the pathogenicity of intronic variants in MRAP . Endocrine Abstracts

H I, O D, F F, V C, AK G, NJ R, J B, V P et al. ( 2021 ) . Structure reveals the activation mechanism of the MC4 receptor to initiate satiation signalling .

Maudhoo A, Maharaj A, Buonocore F, Martos-Moreno GA, Argente J, Achermann JC, Chan LF, Metherell LA ( 2021 ) . Missplicing due to a synonymous, T96= exonic substitution in the T-box transcription factor TBX19 resulting in isolated ACTH deficiency . Endocrinology Diabetes and Metabolism Case Reports vol. 2021 , 21 - 0128 .

Degtjarik O, Israeli H, Chan LF, Ben-Zvi D, Niv MY, McCormick PJ, 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 . 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 et al. ( 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, 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 et al. ( 2021 ) . Structure reveals the activation mechanism of the MC4 receptor to initiate satiation signaling . Science vol. 372 , ( 6544 ) 808 - 814 .

Buonocore F, Maharaj A, Qamar Y, Koehler K, Suntharalingham JP, Chan LF, Ferraz-de-Souza B, Hughes CR et al. ( 2021 ) . Genetic analysis of paediatric primary adrenal insufficiency of unknown aetiology over 25 years . HORMONE RESEARCH IN PAEDIATRICS . vol. 94 , 187 - 188 .

Baksh RA, Pape SE, Chan L, Gulliford M, Strydom A ( 2021 ) . INCREASED SUSCEPTIBILITY OF COVID-19 DIAGNOSIS IN DOWN SYNDROME COMPARED TO THE GENERAL POPULATION . JOURNAL OF INTELLECTUAL DISABILITY RESEARCH . vol. 65 , 715 - 715 .

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

Qamar Y, Maharaj A, Chan L, AbdulBagi S, Abdullah M, Metherell L ( 2019 ) . Rare causes of primary adrenal insufficiency (PAI) in children from Sudan . Endocrine Abstracts

Qamar Y, Maharaj A, Chan L, Deeb A, Metherell L ( 2019 ) . Splice-site mutations in the melanocortin-2 receptor accessory protein that lead to early-onset familial glucocorticoid deficiency type 2 . Endocrine Abstracts

Smith C, Maharaj A, Prasad R, Hughes C, Qamar Y, Clark A, Chan L, Metherell L ( 2019 ) . Twenty-five years of familial glucocorticoid deficiency: genotypic and phenotypic variability . Endocrine Abstracts

Clark AJL, Chan L ( 2019 ) . Stability and Turnover of the ACTH Receptor Complex . Frontiers in Endocrinology vol. 10 ,

Novoselova TV, King PJ, Guasti L, Metherell LA, Clark AJL, Chan LF ( 2019 ) . ACTH signalling and adrenal development: lessons from mouse models . Endocrine Connections vol. -1 , ( aop ) r122 - r130 .

Maharaj A, Maudhoo A, Chan LF, Novoselova T, Prasad R, Metherell LA, Guasti L ( 2019 ) . Isolated glucocorticoid deficiency: Genetic causes and animal models . Journal of Steroid Biochemistry and Molecular Biology vol. 189 , 73 - 80 .

Smith CJ, Maharaj AV, Prasad R, Hughes CR, Clark AJL, Chan LF, Metherell LA ( 2019 ) . Genetics of Familial Glucocorticoid Deficiency over the Decades: Phenotypic Variability and Associated Features . HORMONE RESEARCH IN PAEDIATRICS . vol. 91 , 108 - 109 .

Maudhoo A, Maharaj A, Buonocore F, Martos-Moreno GA, Argente J, Achermann J, Chan L, Metherell L ( 2018 ) . Missplicing due to a silent exonic substitution in the T-box transcription factor TBX19 resulting in Isolated ACTH deficiency . Endocrine Abstracts

Chan L, Hussain M, Forfar R, Khurana P, Cook J, Lewis S, McIver E, Jerman J et al. ( 2018 ) . Identification and characterisation of a small-molecule ACTH receptor/Melanocortin-2-receptor antagonist . Endocrine Abstracts

Bruschetta G, Kim JD, Diano S, CHAN L ( 2018 ) . Overexpression of Melanocortin 2 Receptor Accessory Protein 2 (MRAP2) in adult paraventricular MC4R neurons regulates energy intake and expenditure . Molecular Metabolism

Maharaj A, Bradshaw T, Williams J, Guran T, Braslavsky D, Bruegger B, Metherell L, Prasad R ( 2018 ) . Sphingosine-1-Phosphate Lyase (SGPL1) Deficiency Is Associated with Mitochondrial Dysfunction . HORMONE RESEARCH IN PAEDIATRICS . Conference: 57th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE) ( Athens, Greece ) from: 27/09/2018 to: 29/09/2018 , vol. 90 , 78 - 78 .

Novoselova TV, Hussain M, King PJ, Guasti L, Metherell LA, Charalambous M, Clark AJL, Chan LF ( 2018 ) . MRAP deficiency impairs adrenal progenitor cell differentiation and gland zonation . The FASEB Journal vol. 32 , ( 11 ) 6186 - 6196 .

Novoselova TV, Chan LF, Clark AJL ( 2018 ) . Pathophysiology of melanocortin receptors and their accessory proteins . Best Pract Res Clin Endocrinol Metab vol. 32 , ( 2 ) 93 - 106 .

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

CHAN L ( 2016 ) . A central role for melanocortin-4 receptors in offspring hypertension arising from maternal obesity . Proceedings of the National Academy of Sciences of USA

Clark AJ, Forfar R, Hussain M, Jerman J, McIver E, Taylor D, Chan L ( 2016 ) . ACTH Antagonists . Frontiers in Endocrinology vol. 7 ,

Novoselova TV, Larder R, Rimmington D, Lelliott C, Wynn E, Gorrigan RJ, Tate P, Guasti L et al. ( 2016 ) . Loss of Mrap2 is associated with Sim 1 deficiency and increased circulating cholesterol . Journal of EndocrinologyJOE-16-0057 - JOE-16-0057 .

Buonocore F, Chan L, Achermann J, Metherell L ( 2015 ) . Molecular diagnosis of patients with adrenal insufficiency using a targeted custom Haloplex next-generation sequencing panel . Endocrine Abstracts

Chan LF, Campbell DC, Novoselova TV, Clark AJL, Metherell LA ( 2015 ) . Whole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in Children . Frontiers in Endocrinology vol. 6 ,

Jackson DS, Ramachandrappa S, Clark AJ, Chan LF ( 2015 ) . Melanocortin receptor accessory proteins in adrenal disease and obesity . Frontiers in Neuroscience vol. 9 ,

Novoselova TV, Rath SR, Carpenter K, Pachter N, Dickinson JE, Price G, Chan LF, Choong CS et al. ( 2015 ) . NNT Pseudoexon Activation as a Novel Mechanism for Disease in Two Siblings With Familial Glucocorticoid Deficiency . JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM vol. 100 , ( 2 ) E350 - E354 .

Novoselova T, Larder R, Rimmington D, Lelliott C, Wynn E, O'Rahilly S, Clark A, Logan D et al. ( 2014 ) . Melanocortin 2 receptor accessory protein 2 (Mrap2) regulates hypothalamic melanocortin-4-receptor trafficking in vivo . Endocrine Abstracts

Novoselova T, Spoudeas H, Huebner A, Cheetham T, Chan L, Metherell L ( 2014 ) . Varied clinical presentations of six patients with mutations in CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450scc . Endocrine Abstracts

Chan L, Novoselova T, Rath S, Carpenter K, Pachter N, Price G, Dickinson J, Choong C et al. ( 2014 ) . cDNA analysis reveals NNT pseudoexon activation in two siblings with familial glucocorticoid deficiency . Endocrine Abstracts

Prasad R, Chan LF, Hughes CR, Kaski JP, Kowalczyk JC, Savage MO, Peters CJ, Nathwani N et al. ( 2014 ) . Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD) . J Clin Endocrinol Metab vol. 99 , ( 8 ) E1556 - E1563 .

Asai M, Ramachandrappa S, Joachim M, Shen Y, Zhang R, Nuthalapati N, Ramanathan V, Strochlic DE et al. ( 2013 ) . Loss of Function of the Melanocortin 2 Receptor Accessory Protein 2 Is Associated with Mammalian Obesity . Science vol. 341 , ( 6143 ) 275 - 278 .

Meimaridou E, Hughes CR, Kowalczyk J, Guasti L, Chapple JP, King PJ, Chan LF, Clark AJL et al. ( 2013 ) . Familial glucocorticoid deficiency: New genes and mechanisms . Molecular and Cellular Endocrinology vol. 371 , ( 1-2 ) 195 - 200 .

Meimaridou E, Hughes CR, Kowalczyk J, Guasti L, Chapple JP, King PJ, Chan LF, Clark AJL et al. ( 2013 ) . Familial glucocorticoid deficiency: New genes and mechanisms . Mol Cell Endocrinol vol. 371 , ( 1-2 ) 195 - 200 .

Novoselova TV, Jackson D, Campbell DC, Clark AJL, 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, Metherell L ( 2013 ) . A mutation in thioredoxin reductase 2 (TXNRD2) is associated with a predominantly adrenal phenotype in humans . Endocrine Abstracts1 - 1 .

Meimaridou E, Hughes CR, Kowalczyk J, Chan LF, Clark AJL, Metherell LA ( 2013 ) . ACTH resistance: genes and mechanisms . Endocr Dev vol. 24 , 57 - 66 .

Ramachandrappa S, Gorrigan RJ, Clark AJL, Chan LF ( 2013 ) . The melanocortin receptors and their accessory proteins . Front Endocrinol (Lausanne) vol. 4 ,

Jain V, Metherell LA, David A, Sharma R, Sharma PK, Clark AJL, 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, 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, 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 et al. ( 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 .

Chan L, Albertsson-Wikland K, Camacho-Hübner C, 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, 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 et al. ( 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, 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, STORR HL ( 2010 ) . Diagnosis and Treatment of Cushing’s Disease in Children . Pediatric Neuroendocrinology , Editors: Loche, S, Cappa, M, Ghizzoni, L, Maghnie, M et al. , Karger Publishers

Savage MO, Dias RP, Chan LF, Afshar F, Plowman NP, Matson M, Grossman AB, Storr HL ( 2010 ) . Diagnosis and treatment of Cushing's disease in children . Endocr Dev vol. 17 , 134 - 145 .

Chan LF, Hughes CR, Allgrove JA, Martin L, Afshar F, Hindmarsh PC, Savage MO, Grossman AB et al. ( 2010 ) . Use of Intravenous Etomidate in a Child To Control Acute Psychosis Induced by the Hypercortisolemia Secondary to Severe Cushing's Disease . ENDOCRINE REVIEWS . vol. 31 ,

Chan LF, Metherell LA, Krude H, Ball C, O'Riordan SMP, Costigan C, Lynch SA, Savage MO 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 . 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 et al. ( 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, 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, 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, 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, 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 .

Chan LF, David A, Jain V, Clark AJL, Metherell LA ( 2009 ) . A novel splice mutation (IVSds3+3insTA) in the melanocortin 2 receptor accessory protein that leads to skipping of exon 3 . HORMONE RESEARCH vol. 72 , 70 - 70 .

Metherell LA, Chung T-T, Chan LF, Clark AJL ( 2009 ) . Genotype:phenotype relationships in familial glucocorticoid deficiency types 1 and 2 . HORMONE RESEARCH vol. 72 , 211 - 211 .

Chan LF, Metherell LA, Krude H, Ball C, O'Riordan SM, Costigan C, Lynch SA, Savage MO 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 . Clin Endocrinol (Oxf) vol. 71 , ( 2 ) 171 - 175 .

Dias RP, Kumaran A, Chan LF, Martin L, Afshar F, Matson M, Plowman PN, Monson JP et al. ( 2009 ) . Prepubertal Cushing's disease: diagnosis, management and therapeutic outcome . HORMONE RESEARCH vol. 72 , 72 - 72 .

Chung TT, Webb TR, Chan LF, Cooray SN, Metherell LA, King PJ, Chapple JP, 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, 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, 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, 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 .

Cooray SN, Chan L, Metherell L, Storr H, Clark AJL ( 2008 ) . Adrenocorticotropin resistance syndromes . Endocr Dev vol. 13 , 99 - 116 .

Savage MO, Chan LF, Afshar F, Plowman PN, Grossman AB, Storr HL ( 2008 ) . Advances in the management of paediatric Cushing's disease . Horm Res vol. 69 , ( 6 ) 327 - 333 .

Storr H, Alexandraki K, Chan L, Martin L, Monson J, Besser M, Grossman A, Savage M ( 2008 ) . Comparisons in the epidemiology and diagnostic features between paediatric and adult Cushing's disease . HORM RES vol. 70 , 24 - 25 .

Chan LF, Clark AJL, Metherell LA ( 2008 ) . Familial glucocorticoid deficiency: Advances in the molecular understanding of ACTH action . HORM RES vol. 69 , ( 2 ) 75 - 82 .

Chan L, Chung TT, Massoud A, Metherell L, Clark A ( 2008 ) . Functional consequence of two opposing MC2R mutations in a child with severe FGD phenotype . HORM RES vol. 70 , 23 - 23 .

Chan LF, Storr HL, Grossman AB, 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, 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, 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, Grossman AB ( 2007 ) . Diagnosis and treatment of pediatric Cushing's disease . Pituitary vol. 10 , ( 4 ) 365 - 371 .

Metherell LA, Chan LF, 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, 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 .

Chan LF, Storr HL, Scheimberg I, Perry LA, Banerjee K, Miraki-Moud F, Camacho-Hubner C, 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, Hodes D ( 2004 ) . When is an abnormal frenulum a sign of child abuse? . Arch Dis Child vol. 89 , ( 3 )