Publications:  Dr Li Chan

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.

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. 8, (7) 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.

Clark AJL, Chan L(2019). Stability and Turnover of the ACTH Receptor Complex. Front Endocrinol (Lausanne) vol. 10,

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. FASEB Journal vol. 32, (11) 6186-6196.

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

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.

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.

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

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

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.

Novoselova TV, Larder R, Rimmington D, Lelliott C, Wynn E, O'Rahilly S, Clark AJL, Logan D et al.(2014). Melanocortin 2 Receptor Accessory Protein 2 (Mrap2) Regulates Hypothalamic Melanocortin-4-Receptor Trafficking in Vivo. ENDOCRINE REVIEWS vol. 35, (3)

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.

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

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.

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)

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,

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, 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)