Prof Lou Metherell

Lou Metherell
BSc PhD

Professor of Endocrine Genetics

Centre for Endocrinology, William Harvey Research Institute
Faculty of Medicine and Dentistry, Queen Mary University of London
www.qmul.ac.uk/whri/people/academic-staff/items/metherelllou.html
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Research

Genetics, Adrenal insufficiency, Endocrinology, Cardiomyopathy, Growth retardation, Porphyria

Cardiovascular Models, Skin Models

Interests

The main focus of my group is on disorders of adrenal insufficiency, with the adrenal gland fails to make one or more of the hormones that co-ordinate the body’s fight or flight responses. Some of these disorders are syndromic and involve other tissues of the body such as skin and kidneys. Being able to model these organs in a dish allows us to study the mechanisms causing these dysfunctions and so we have an interest in in vitro modelling for several aspects of my research. Dr Chris Smith has created 3D models of skin to understand the ichthyosis seen in sphingosine-1-phosphate lyase deficiency, a multi-organ pathology involving adrenal insufficiency, steroid resistant nephrosis and neurological deficits. In collaboration with Professor Leo Guasti we study the development and maintenance of the adrenal cortex, knocking out genes to try and understand what goes wrong in syndromes of adrenal insufficiency.

Publications

Publications of specific relevance to Predictive in vitro Models

2023

Kidd E, Meimaridou E, Williams J, Metherell LA, Walley AJ and Fairbrother UL (2023). Choice of gDNA isolation method has a significant impact on average murine Telomere Length estimates. Taylor & Francis  Preparative Biochemistry & Biotechnology  vol. 54, (6) 788-795. 10.1080/10826068.2023.2288572
Smith C, Al-Salihi A, Janecke A, Steichen E, Banka S, Jackson A, Darby D, Griffin L, Stewart S, Elsayed S, Talbi N, Gouya L, Chan L and Metherell L (2023). Adrenal insufficiency can be associated with biallelic mutations in porphyria genes. Bioscientifica  Endocrine Abstracts  10.1530/endoabs.94.op5.3
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  10.1530/endoabs.94.p15
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) 10.1210/jendso/bvad114.296
Williams JL, Smith CJ, Mastroianni G, Stewart M, Cutillas P, Tinker A and Metherell L (2023). Abstract P2043: Loss Of Full-length Mylk3 Causes Dilated Cardiomyopathy Via A Myl2-independent Mechanism. Wolters Kluwer  Circulation Research  vol. 133, (Suppl_1) 10.1161/res.133.suppl_1.p2043
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). Adrenal Insufficiency Associated with Biallelic Mutations in Porphyria Genes. Bioscientifica  Endocrine Abstracts  10.1530/endoabs.90.oc5.4
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  10.1530/endoabs.90.p560
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) 10.1016/j.jid.2023.03.778
Andrews A, Cottrell E, Maharaj A, Ladha T, Williams J, Schilbach K, Kaisinger LR, Perry JRB, Metherell LA, McCormick PJ and Storr HL (2023). Characterization of dominant-negative growth hormone receptor variants reveals a potential therapeutic target for short stature. Oxford University Press (Oup)  European Journal of Endocrinology  vol. 188, (4) 353-365. 10.1093/ejendo/lvad039
Smith CJ, Williams JL, Hall C, Casas J, Caley MP, O'Toole EA, Prasad R and Metherell LA (2023). Ichthyosis linked to sphingosine 1-phosphate lyase insufficiency is due to aberrant sphingolipid and calcium regulation. Elsevier  Journal of Lipid Research  vol. 64, (4) 10.1016/j.jlr.2023.100351
Williams JL, Smith C, Hall C, Khaled Z, Maharaj A, Kwong R, Pittaway J, Casas J, Parvanta L, Abdel-Aziz TE, Palazzo F, Chung T-T, Guasti L, Metherell L and Prasad R (2023). Elevated sphingosine-1-phosphate lyase leads to increased metabolism and reduced survival in adrenocortical carcinoma. Oxford University Press (Oup)  European Journal of Endocrinology  vol. 188, (1) 10.1093/ejendo/lvac007
Corkery-Hayward M and Metherell LA (2023). Adrenal Dysfunction in Mitochondrial Diseases. Mdpi  International Journal of Molecular Sciences  vol. 24, (2) 10.3390/ijms24021126

2022

Smith CJ, Williams JL, Hall C, Caley MP, O’Toole EA, Prasad R and Metherell LA (2022). 181 Sphingosine 1-phosphate lyase insufficiency induced ichthyosis is due to sphingolipid imbalance, increased differentiation, and aberrant intercellular junctions. Elsevier  Journal of Investigative Dermatology  vol. 142, (12) 10.1016/j.jid.2022.09.192
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. 10.1210/jendso/bvac150.286
Maharaj A, Cottrell E, van DH, de BC, Joustra S, Kant S, van DKD, Inmaculada CDCLM, Massoud A, Metherell L, Hwa V, Hombach-Klonisch S, Klonisch T and Storr H (2022). Understanding the molecular basis of short stature in six patients with pathogenic variants in HMGA2. Bioscientifica  Endocrine Abstracts  10.1530/endoabs.85.p44
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  10.1530/endoabs.85.oc5.5
Ming WKR, Williams J, Maharaj AV, Metherell L and Prasad R (2022). SGPL1 deficiency impairs Leydig cell steroidogenesis and should be considered in 46XY individuals with DSD and adrenal insufficiency. Bioscientifica  Endocrine Abstracts  10.1530/endoabs.85.oc5.8
Smith C, Williams J, Hall C, Caley M, O'Toole E, Prasad R and Metherell L (2022). ESDR181 - Sphingosine 1-phosphate lyase insufficiency induced ichthyosis is due to sphingolipid imbalance, increased differentiation, and aberrant intercellular junctions. Morressier  10.26226/m.62fa0094a32203001a2f3e54
A A, A M, E C, S C, P S, L D, K D, A B, T M, R V, M D, N S, LA M, MO S and HL S (2022). Genetic characterization of short stature patients with overlapping features of growth hormone insensitivity syndromes. Bioscientifica  10.1530/ey.19.4.10
Williams JL, Paudyal A, Stewart M, Cutillas P, Tinker A and Metherell L (2022). Abstract P2005: Loss Of Full-length Mylk3 Causes Dilated Cardiomyopathy Via A MYL2-independent Mechanism. Wolters Kluwer  Circulation Research  vol. 131, (Suppl_1) ap2005-ap2005. 10.1161/res.131.suppl_1.p2005
Maharaj A, Kwong R, Williams J, Smith C, Storr H, Krone R, Braslavsky D, Clemente M, Ram N, Banerjee I, Çetinkaya S, Buonocore F, Güran T, Achermann JC, Metherell L and Prasad R (2022). A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review. Bioscientifica  Endocrine Connections  vol. 11, (8) 10.1530/ec-22-0250
Williams J, Smith C, Hall C, Khaled Z, Maharaj A, Kwong R, Pittaway J, Casas J, Parvanta L, Abdel-Aziz T, Palazzo F, Chung T-T, Guasti L, Metherell L and Prasad R (2022). Elevated SGPL1 expression is associated with increased metabolic rate in cells and reduced survival in individuals with adrenocortical carcinoma. Bioscientifica  Endocrine Abstracts  10.1530/endoabs.81.p125
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  10.1530/endoabs.81.rc2.1
Ali N, Maharaj AV, Buonocore F, Achermann JC and Metherell LA (2022). Can Digenic, Tri-Allelic Inheritance of Variants in STAR and CYP11A1 Give Rise to Primary Adrenal Insufficiency? A Case Report. Frontiers  Frontiers in Endocrinology  vol. 13, 10.3389/fendo.2022.860055
Maharaj A, Güran T, Buonocore F, Achermann JC, Metherell L, Prasad R and Çetinkaya S (2022). Insights From Long-term Follow-up of a Girl With Adrenal Insufficiency and Sphingosine-1-Phosphate Lyase Deficiency. The Endocrine Society  Journal of The Endocrine Society  vol. 6, (5) 10.1210/jendso/bvac020

2021

Farooqi N, Metherell LA, Schrauwen I, Acharya A, Khan Q, Nouel Saied LM, Ali Y, El-Serehy HA, Jalil F and Leal SM (2021). Exome sequencing identifies a novel fbn1 variant in a pakistani family with marfan syndrome that includes left ventricle diastolic dysfunction. Genes  vol. 12, (12) 10.3390/genes12121915
Williams J, paudyal A, Stewart M, Cutillas P, Cox RD, Tinker A and Metherell L (2021). Abstract 14037: A Shorter Myosin Light Chain Kinase 3 Isoform Maintains Myosin Light Chain 2 Phosphorylation but Does Not Attenuate the Dilated Cardiomyopathy Seen in C57BL/6N Mice. Wolters Kluwer  Circulation  vol. 144, (Suppl_1) a14037-a14037. 10.1161/circ.144.suppl_1.14037
Cottrell E, Maharaj A, Williams J, Chatterjee S, Cirillo G, del GEM, Festa A, Palumbo S, Capalbo D, Salerno M, Pignata C, Savage MO, Schilbach K, Bidlingmaier M, Hwa V, Metherell LA, Grandone A and Helen LS (2021). Growth hormone receptor 6Ω pseudoexon activation: a novel cause of severe growth hormone insensitivity. Bioscientifica  Endocrine Abstracts  10.1530/endoabs.78.oc4.3
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  10.1530/endoabs.77.p134
Williams J, Smith C, Maharaj A, Kwong R, Hall C, Metherell L and Prasad R (2021). SGPL1 regulates expression of electron transport chain components to modulate cellular metabolism in the adrenal gland. Bioscientifica  Endocrine Abstracts  10.1530/endoabs.77.p11
Smith CJ, Williams JL, Caley MP, O’Toole EA, Prasad R and Metherell LA (2021). 099 Ichthyosis associated with sphingosine 1-phosphate lyase deficiency is due to aberrant calcium and sphingolipid regulation. Journal of Investigative Dermatology  vol. 141, (10) s165-s165. 10.1016/j.jid.2021.08.102
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. 10.1530/edm-21-0128
Zhou J, Azizan EAB, Cabrera CP, Fernandes-Rosa FL, Boulkroun S, Argentesi G, Cottrell E, Amar L, Wu X, O’Toole S, Goodchild E, Marker A, Senanayake R, Garg S, Åkerström T, Backman S, Jordan S, Polubothu S, Berney DM, Gluck A, Lines KE, Thakker RV, Tuthill A, Joyce C, Kaski JP, Karet Frankl FE, Metherell LA, Teo AED, Gurnell M and Parvanta L (2021). Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause. Nature Genetics  10.1038/s41588-021-00906-y
Argentesi G, Azizan E, Zhou J, Cabrera C, O’Toole S, Wu X, Goodchild E, Cottrell E, Marker A, Senanayake R, Garg S, Jordan S, Berney D, Gluck A, Lines K, Thakker RV, Tuthill A, Joyce C, Karet FF, Metherell L, Teo A, Gurnell M, Parvanta L, Drake W, Wozniak E, Mein C, Kinsler V, Storr H and Brown M (2021). Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause. Nature Research  Nature Genetics  10.1038/s41588-021-00906-y
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) 10.1210/jendso/bvab086
Cottrell E, Maharaj A, Williams J, Chatterjee S, Cirillo G, Miraglia Del Giudice E, Festa A, Palumbo S, Capalbo D, Salerno M, Pignata C, Savage MO, Schilbach K, Bidlingmaier M, Hwa V, Metherell LA, Grandone A and Storr HL (2021). Growth Hormone Receptor (Ghr) 6ω Pseudoexon Activation: A Novel Cause Of Severe Growth Hormone Insensitivity (Ghi). J Clin Endocrinol Metab  10.1210/clinem/dgab550
Cottrell E, Maharaj A, Williams J, Chatterjee S, Cirillo G, Miraglia Del Giudice E, Festa A, Palumbo S, Capalbo D, Salerno M, Pignata C, Savage MO, Schilbach K, Bidlingmaier M, Hwa V, Metherell LA, Grandone A and Storr HL (2021). Growth Hormone Receptor (GHR) 6Ω Pseudoexon Activation: a Novel Cause of Severe Growth Hormone Insensitivity. J Clin Endocrinol Metab  10.1210/clinem/dgab550
Andrews A, Maharaj A, Cottrell E, Chatterjee S, Shah P, Denvir L, Dumic K, Bossowski A, Mushtaq T, Vukovic R, Didi M, Shaw N, Metherell LA, Savage MO and Storr HL (2021). Genetic Characterization of Short Stature Patients with Overlapping Features of Growth Hormone Insensitivity Syndromes. Journal of Clinical Endocrinology and Metabolism  vol. 106, (11) E4716-E4733. 10.1210/clinem/dgab437
Williams JL, Hall CL, Meimaridou E and Metherell LA (2021). Loss of Nnt Increases Expression of Oxidative Phosphorylation Complexes in C57BL/6J Hearts. Mdpi  International Journal of Molecular Sciences  vol. 22, (11) 10.3390/ijms22116101
Kwong RMW, Maharaj AV, Metherell L and Prasad R (2021). Sphingosine 1- Phosphate Lyase Insufficiency Syndrome (SPLIS); A Role in Multiple Endocrinopathies. Journal of The Endocrine Society  vol. 5, (Suppl 1) a662-a662. 10.1210/jendso/bvab048.1351
Azizan EAB, Zhou J, Cabrera CP, Fernandes-Rosa FL, Boulkroun S, Argentesi G, Cottrell E, Amar L, Wu X, Marker A, Garg S, Akerstrom T, Backman S, Jordan S, Gluck AK, Lines KE, Thakker RV, Tuthill AA, Joyce CM, Metherell L, Teo A, Gurnell M, Parvanta L, Drake W, Wozniak E, Kuan JL, Tiang Z, Hellman P, Foo R and Mein C (2021). Somatic Mutations of GNA11 and GNAQ in CTNNB1-Mutant Aldosterone-Producing Adenomas Increases Aldosterone and Aldosterone Synthase (CYP11B2). The Endocrine Society  Journal of The Endocrine Society  vol. 5, (Supplement_1) a72-a72. 10.1210/jendso/bvab048.145
Zhou J, Boulkroun S, Cabrera CP, Azizan EAB, Fernandes-Rosa F, Cottrell E, Argentesi G, Wu X, O’Toole S, Marker A, Jordan S, Berney DM, Lines K, Metherell L, Teo A, Thakker RV, Drake W, Wozniak E, Mein CA, Storr HL, Zennaro M-C and Brown MJ (2021). CTNNB1-Mutant Aldosterone-Producing Adenomas With Somatic Mutations of GNA11/GNAQ Have Distinct Phenotype and Genotype. Journal of The Endocrine Society  vol. 5, (Suppl 1) a65-a66. 10.1210/jendso/bvab048.133
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. 10.1210/jendso/bvab048.172

2020

Cottrell E, Cabrera CP, Ishida M, Chatterjee S, Greening J, Wright N, Bossowski A, Dunkel L, Deeb A, Al Basiri I, Rose SJ, Mason A, Bint S, Ahn JW, Hwa V, Metherell LA, Moore GE and Storr HL (2020). Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity. Oxford University Press (Oup)  European Journal of Endocrinology  vol. 183, (6) 581-595. 10.1530/eje-20-0474
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, 10.1016/j.jsbmb.2020.105730
Maharaj A, Theodorou D, Banerjee I, Metherell LA, Prasad R and Wallace D (2020). A Sphingosine-1-Phosphate Lyase Mutation Associated With Congenital Nephrotic Syndrome and Multiple Endocrinopathy. Frontiers  Frontiers in Pediatrics  vol. 8, 10.3389/fped.2020.00151
Zhou J, Cabrera CP, Azizan EAB, Fernandes-Rosa F, Cottrell E, Amar L, Argentesi G, Wu X, Marker A, Jordan S, Polubothu S, Berney DM, Tuthill A, Karet FE, Metherell L, Teo A, Thakker RV, Drake W, Boulkroun S, Kinsler V, Storr HL, Zennaro M-C and Brown MJ (2020). SAT-224 Recurrent Co-Driver Mutation in CTNNB1-Mutant Aldosterone-producing Adenomas (APA), Causing Reversible Hypertension in Puberty, Pregnancy or Menopause. Journal of The Endocrine Society  vol. 4, (Suppl 1) A624-A624. 10.1210/jendso/bvaa046.1231
Williams JL, Paudyal A, Awad S, Nicholson J, Grzesik D, Botta J, Meimaridou E, Maharaj AV, Stewart M, Tinker A, Cox RD and Metherell LA (2020). Mylk3 null C57BL/6N mice develop cardiomyopathy, whereas Nnt null C57BL/6J mice do not. Life Science Alliance  Life Science Alliance  vol. 3, (4) 10.26508/lsa.201900593
Kallali W, Gray E, Mehdi MZ, Lindsay R, Metherell LA, Buonocore F, Suntharalingham JP, Achermann JC and Donaldson M (2020). Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: The importance of early diagnosis. Bioscientifica  European Journal of Endocrinology  vol. 182, (3) K15-K24. 10.1530/EJE-19-0696
Chatterjee S, Cottrell E, Rose SJ, Mushtaq T, Maharaj AV, Williams J, Savage MO, Metherell LA and Storr HL (2020). GHR gene transcript heterogeneity may explain phenotypic variability in GHR pseudoexon (6Ψ) patients. Bioscientifica  Endocrine Connections  vol. -1, (aop) 211-222. 10.1530/ec-20-0026

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  10.1530/endoabs.66.oc5.9
Cottrell E, Maharaj A, Ladha T, Chatterjee S, Grandone A, Cirillo G, del GEM, Kostalova L, Vitariusova E, Hwa V, Metherell LA and Storr HL (2019). Three novel Growth Hormone Receptor (GHR) splicing mutations causing a spectrum of Growth Hormone Insensitivity. Bioscientifica  Endocrine Abstracts  10.1530/endoabs.66.p73
Chatterjee S, Bertola D, Agwu C, Karantza M, Cottrell E, Shapiro L, Maharaj AV, Williams J, Savage MO, Gaston-Massuet C, Metherell LA and Storr HL (2019). Novel variants in the Leucine-zipper-like transcription regulator 1 (LZTR1) gene cause Noonan syndrome phenotype by upregulation of the RAS-MAPKinase pathway. Bioscientifica  Endocrine Abstracts  10.1530/endoabs.66.oc4.7
Maharaj A, Williams J, Guran T, Braslavsky D, Casas J, Metherell L and Prasad R (2019). SGPL1 deficiency leads to accumulation of sphingolipid species and downregulation of key enzymes within the steroidogenic pathway. Bioscientifica  Endocrine Abstracts  10.1530/endoabs.66.oc4.8
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  10.1530/endoabs.65.p48
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  10.1530/endoabs.65.cc2
SR H, R O, A P, V C, A F, G R-B, LA M, CP C, MR B, K W, L G, C R, A C and L D (2019). HS6ST1 insufficiency causes self-limited delayed puberty in contrast with other GnRH deficiency genes. Bioscientifica  10.1530/ey.16.7.4
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. 10.1530/ec-19-0190
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. 10.1016/j.jsbmb.2019.02.012

2018

Settas N, Persky R, Faucz FR, Sheanon N, Voutetakis A, Lodish M, Metherell LA and Stratakis CA (2018). SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency. The Endocrine Society  The Journal of Clinical Endocrinology & Metabolism  vol. 104, (5) 1484-1490. 10.1210/jc.2018-02238
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  10.1530/endoabs.59.cc2
Maharaj A, Buonocore F, Meimaridou E, Ruiz-Babot G, Guasti L, Peng H-M, Capper CP, Burgos-Tirado N, Prasad R, Hughes CR, Maudhoo A, Crowne E, Cheetham TD, Brain CE, Suntharalingham JP, Striglioni N, Yuksel B, Gurbuz F, Gupta S, Lindsay R, Couch R, Spoudeas HA, Guran T, Johnson S, Fowler DJ, Conwell LS, McInerney-Leo AM, Drui D, Cariou B and Lopez-Siguero JP (2018). Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing. The Endocrine Society  Journal of The Endocrine Society  vol. 3, (1) 201-221. 10.1210/js.2018-00130
Prasad R, Maharaj A, Bradshaw T, Williams J, Guran T, Braslavsky D, Brugger B and Metherell L (2018). Sphingosine-1-phosphate lyase (SGPL1) deficiency is associated with mitochondrial dysfunction. Bioscientifica  Endocrine Abstracts  10.1530/endoabs.58.p005
Chatterjee S, Rose SJ, Mushtaq T, Cottrell E, Maharaj AV, Williams J, Savage MO, Metherell LA and Storr HL (2018). Genotype-phenotype correlation in patients with homozygous GHR pseudoexon (6Ψ) mutation. Bioscientifica  Endocrine Abstracts  10.1530/endoabs.58.p024
Cottrell E, Chatterjee S, Moore G, Ishida M, Greening J, Wright N, Bossowski A, Deeb A, Al BI, Rose S, Mason A, Ahn J, Bint S, Savage MO, Metherell LA and Storr HL (2018). Patients with short stature and GH/IGF-1 insensitivity harbour copy number variants causing a Silver-Russell-like phenotype. Bioscientifica  Endocrine Abstracts  10.1530/endoabs.58.oc5.8
Cottrell E, Maharaj A, Chatterjee S, Grandone A, Cirillo G, Miraglia DGE, Metherell LA and Storr HL (2018). A novel GHR pseudoexon mutation causing frameshift and severe postnatal growth failure. Bioscientifica  Endocrine Abstracts  10.1530/endoabs.58.oc5.7
Costa ARD, Qarin S, Bradshaw T, Watson D, Prasad R, Metherell LA, Barnes MR, Skarnes W, Chapple JP and Storr HL (2018). Can novel stem cell models help unpick the pathogenesis of the Triple A syndrome? Bioscientifica  Endocrine Abstracts  10.1530/endoabs.58.oc5.3
Storr HL, Chatterjee S, Metherell LA, Foley C, Rosenfeld RG, Backeljauw PF, Dauber A, Savage MO and Hwa V (2018). Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action. The Endocrine Society  Endocrine Reviews  vol. 40, (2) 476-505. 10.1210/er.2018-00146
G R-B, M B, I H, SJ A, DR T, L G, NF T, U S, CG Z, HL S, MR D, EF G, WM D, GS C, PJ K, LA M and SR B (2018). Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells. Bioscientifica  10.1530/ey.15.8.14
Howard SR, Oleari R, Poliandri A, Chantzara V, Fantin A, Ruiz-Babot G, Metherell LA, Cabrera CP, Barnes MR, Wehkalampi K, Guasti L, Ruhrberg C, Cariboni A and Dunkel L (2018). HS6ST1 Insufficiency Causes Self-Limited Delayed Puberty in Contrast With Other GnRH Deficiency Genes. The Endocrine Society  The Journal of Clinical Endocrinology & Metabolism  vol. 103, (9) 3420-3429. 10.1210/jc.2018-00646
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. 10.1096/fj.201701274rr
Klammt J, Neumann D, Gevers EF, Andrew SF, Schwartz ID, Rockstroh D, Colombo R, Sanchez MA, Vokurkova D, Kowalczyk J, Metherell LA, Rosenfeld RG, Pfäffle R, Dattani MT, Dauber A and Hwa V (2018). Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation. Springer Nature  Nature Communications  vol. 9, (1) 10.1038/s41467-018-04521-0
Chortis V, Taylor A, Doig C, Walsh M, Meimaridou E, Jenkinson C, Rodriguez-Blanco G, Ronchi C, Jaffri A, Metherell L, Hebenstreit D, Dunn W, Arlt W and Foster P (2018). Nicotinamide Nucleotide Transhydrogenase as a novel treatment target in adrenocortical carcinoma. Bioscientifica  Endocrine Abstracts  10.1530/endoabs.56.gp23
Chortis V, Taylor AE, Doig CL, Walsh MD, Meimaridou E, Jenkinson C, Rodriguez-Blanco G, Ronchi CL, Jafri A, Metherell LA, Hebenstreit D, Dunn WB, Arlt W and Foster PA (2018). Nicotinamide Nucleotide Transhydrogenase as a Novel Treatment Target in Adrenocortical Carcinoma. The Endocrine Society  Endocrinology  vol. 159, (8) 2836-2849. 10.1210/en.2018-00014
Chatterjee S, Shapiro L, Rose SJ, Mushtaq T, Clayton PE, Ten SB, Bhangoo A, Kumbattae U, Dias R, Savage MO, Metherell LA and Storr HL (2018). Phenotypic spectrum and responses to recombinant human IGF1 (rhIGF1) therapy in patients with homozygous intronic pseudoexon growth hormone receptor mutation. Oxford University Press (Oup)  European Journal of Endocrinology  vol. 178, (5) 481-489. 10.1530/eje-18-0042
Ruiz-Babot G, Balyura M, Hadjidemetriou I, Ajodha SJ, Taylor DR, Ghataore L, Taylor NF, Schubert U, Ziegler CG, Storr HL, Druce MR, Gevers EF, Drake WM, Srirangalingam U, Conway GS, King PJ, Metherell LA, Bornstein SR and Guasti L (2018). Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells. Elsevier  Cell Reports  vol. 22, (5) 1236-1249. 10.1016/j.celrep.2018.01.003

2017

Andrews E, Taylor C, Metherell L, Buonocore F, Achermann J and Maharaj A (2017). An unusual presentation of congenital lipoid adrenal hyperplasia and novel STAR mutation in two siblings. Bioscientifica  Endocrine Abstracts  10.1530/endoabs.51.p010
Da CAR, Meimaridou E, Prasad R, Metherell LA, Chapple JP and Storr HL (2017). Novel evidence implies that ALADIN, the triple A syndrome gene product is involved in mitochondrial physiology. Bioscientifica  Endocrine Abstracts  10.1530/endoabs.51.oc5.3
Chatterjee S, Rose S, Mushtaq T, Clayton P, Ten S, Bhangoo A, Kumbattae U, Dias R, Shapiro L, Metherell L, Savage M and Storr H (2017). Phenotypic spectrum and response to recombinant human IGF1(rhIGF1) therapy in patients with homozygous intronic pseudoexon (6Ψ)GH receptor mutations. Bioscientifica  Endocrine Abstracts  10.1530/endoabs.51.oc5.6
Chortis V, Taylor AE, Doig CL, Meimaridou E, Walsh M, Jenkinson C, Rodriguez-Blanco G, Jafri A, Ronchi C, Metherell LA, Hebenstreit D, Dunn WB, Arlt W and Foster PA (2017). Antioxidant pathway targeting as a therapeutic approach in adrenocortical carcinoma. Bioscientifica  Endocrine Abstracts  10.1530/endoabs.50.oc1.3
Maharaj A, Buonocore F, Meimaridou E, Ruiz-Babot G, Guasti L, Peng H-M, Capper C, Prasad R, Crowne E, Cheetham T, Brain C, Suntharalingham J, Striglioni N, Yuksel B, Gurbuz F, Auchus R, Spoudeas H, Guran T, Johnson S, Fowler D, Duncan E, Conwell L, Drui D, Cariou B, Siguero JPL, Harris M, Donaldson M, Achermann J and Metherell L (2017). Predicted benign and silent SNPs in CYP11A1 cause primary adrenal insufficiency through missplicing. Bioscientifica  Endocrine Abstracts  10.1530/endoabs.50.oc4.1
Meimaridou E, Goldsworthy M, Chortis V, Fragouli E, Foster PA, Arlt W, Cox R and Metherell LA (2017). NNT is a key regulator of adrenal redox homeostasis and steroidogenesis in male mice. Bioscientifica  Journal of Endocrinology  vol. 236, (1) 13-28. 10.1530/joe-16-0638
Shapiro L, Chatterjee S, Ramadan DG, Davies KM, Savage MO, Metherell LA and Storr HL (2017). Whole-exome sequencing gives additional benefits compared to candidate gene sequencing in the molecular diagnosis of children with growth hormone or IGF-1 insensitivity. Oxford University Press (Oup)  European Journal of Endocrinology  vol. 177, (6) 485-501. 10.1530/eje-17-0453
Salvatori R, Radian S, Diekmann Y, Iacovazzo D, David A, Gabrovska P, Grassi G, Bussell A-M, Stals K, Weber A, Quinton R, Crowne EC, Corazzini V, Metherell L, Kearney T, Du Plessis D, Sinha AK, Baborie A, Lecoq A-L, Chanson P, Ansorge O, Ellard S, Trainer PJ, Balding D, Thomas MG and Korbonits M (2017). In-frame seven amino-acid duplication in AIP arose over the last 3000 years, disrupts protein interaction and stability and is associated with gigantism. Eur J Endocrinol  vol. 177, (3) 257-266. 10.1530/EJE-17-0293
Wacharasindhu S, Panamonta O, Shapiro L, Metherell LA, Savage MO and Storr HL (2017). Young Thai sisters with growth hormone insensitivity or Laron syndrome. Asian Biomedicine  vol. 11, (2) 167-170. 10.5372/1905-7415.1102.549
Vairamani K, Merjaneh L, Casano-Sancho P, Sanli ME, David A, Metherell LA, Savage MO, Del Pozo JS, Backeljauw PF, Rosenfeld RG, Aisenberg J, Dauber A and Hwa V (2017). Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I Deficiency. Oxford University Press  J Endocr Soc  vol. 1, (4) 345-358. 10.1210/js.2016-1119
METHERELL LA, Prasad R, Storr HL, Guasti L, Maharaj A, Meimaridou E and Hadjidemetriou I (2017). Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome. American Society For Clinical Investigation  Journal of Clinical Investigation  10.1172/JCI90171

2016

Metherell LA, Guerra‐Assunção JA, Sternberg MJ and David A (2016). Three‐Dimensional Model of Human Nicotinamide Nucleotide Transhydrogenase (NNT) and Sequence‐Structure Analysis of its Disease‐Causing Variations. Hindawi  Human Mutation  vol. 37, (10) 1074-1084. 10.1002/humu.23046
HOWARD SR, Guasti L, Ruiz-Babot G, Mancini A, David A, Storr H, Metherell LA, Sternberg MJE, Cabrera CP, Warren H, Barnes M, Quinton R, de Roux N, Young J, Guiochon-Mantel A, Wehkalampi K, Andre V, Gothilf Y, Cariboni A and Dunkel L (2016). IGSF10 mutations dysregulate gonadotropin‐releasing hormone neuronal migration resulting in delayed puberty. Wiley  Embo Molecular Medicine  vol. 8, (6) 626-42. 10.15252/emmm.201606250

2015

Tsai SL, Green J, Metherell LA, Curtis F, Fernandez B, Healey A and Curtis J (2015). Primary Adrenocortical Insufficiency Case Series: Genetic Etiologies More Common than Expected. Karger Publishers  Hormone Research in Paediatrics  vol. 85, (1) 35-42. 10.1159/000441843
Pease-Gevers E, Klammt J, Andrew S, Kowalczyk J, Metherell L, Neumann D, Dattani M and Hwa V (2015). Dominant negative STAT5B variants in two families with mild GH insensitivity and eczema. Bioscientifica  Endocrine Abstracts  10.1530/endoabs.39.oc5.3
Shapiro L, Savage M, Metherell L and Storr H (2015). Genetic characterisation of children with short stature and GH or IGF1 insensitivity by single gene and whole exome sequencing. Bioscientifica  Endocrine Abstracts  10.1530/endoabs.39.oc5.2
Howard S, Poliandre A, Storr HL, Metherell LA, Cabrera C, Warren H, Barnes M, Wehkalampi K, Guasti L and Dunkel L (2015). Mutations in HS6ST1 cause self-limited delayed puberty (DP) in addition to idiopathic hypogonadotropic hypogonadism (IHH). Bioscientifica  Endocrine Abstracts  10.1530/endoabs.39.p1
Howard S, Guasti L, Ruiz-Babot G, Mancini A, David A, Storr H, Metherell L, Cabrera C, Warren H, Barnes M, Wehkalampi K, Gothilf Y, Andre V, Cariboni A and Dunkel L (2015). Mutations in IGSF10 cause self-limited delayed puberty. Bioscientifica  Endocrine Abstracts  10.1530/endoabs.39.oc5.1
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  10.1530/endoabs.38.oc3.1
Meimaridou E, Goldsworthy M, Chortis V, Foster P, Arlt W, Cox R and Metherell L (2015). RNA-sequencing of mouse adrenals reveals the pathways perturbed by loss of nicotinamide nucleotide transhydrogenase. Bioscientifica  Endocrine Abstracts  10.1530/endoabs.38.oc1.3
Chortis V, Taylor A, Doig C, Meimaridou E, Metherell L, Arlt W and Foster P (2015). Nicotinamide nucleotide transhydrogenase (NNT) as a novel molecular target in adrenocortical carcinoma - impact of NNT knockdown on adrenocortical cell proliferation, redox balance and steroidogenesis. Bioscientifica  Endocrine Abstracts  10.1530/endoabs.38.p145
Howard S, Poliandri A, Storr H, Metherell L, Cabrera C, Barnes M, Warren H, Wehkalampi K, Guasti L and Dunkel L (2015). Mutations in HS6ST1 are causal in self-limited delayed puberty as well as idiopathic hypogonadotropic hypogonadism. Bioscientifica  Endocrine Abstracts  10.1530/endoabs.38.oc6.3
Howard S, Guasti L, Ruiz-Babot G, Mancini A, David A, Storr H, Metherell L, Sternberg M, Cabrera C, Warren H, Barnes M, Wehkalampi K, Andre V, Gothilf Y, Cariboni A and Dunkel L (2015). Mutations in IGSF10 cause self-limited delayed puberty, via disturbance of GnRH neuronal migration. Bioscientifica  Endocrine Abstracts  10.1530/endoabs.38.oc1.2
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, 10.3389/fendo.2015.00113
Storr HL, Prasad R, Temple IK, Metherell LA, Savage MO and Walker JM (2015). Heterogeneity of the growth phenotype and birth size in acid-labile subunit (ALS) deficiency. J Endocrinol Invest  vol. 38, (4) 407-412. 10.1007/s40618-014-0195-1
Storr HL, Dunkel L, Kowalczyk J, Savage MO and Metherell LA (2015). Genetic characterisation of a cohort of children clinically labelled as GH or IGF1 insensitive: diagnostic value of serum IGF1 and height at presentation. Eur J Endocrinol  vol. 172, (2) 151-161. 10.1530/EJE-14-0541
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. 10.1210/jc.2014-3641

2014

Meimaridou E, Kowalczyk J and Metherell LA (2014). Molecular Genetics of Inherited Glucocorticoid Deficiency. Encyclopedia of Life Sciences  Wiley  10.1002/9780470015902.a0025368
Pease-Gevers E, Kowalczyk J, Storr H, Metherell L and Dattani M (2014). A heterozygous STAT5B variant in a family with short stature and transient hyperprolactinaemia: a possible dominant negative effect. Bioscientifica  Endocrine Abstracts  10.1530/endoabs.36.p65
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  10.1530/endoabs.36.p4
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  10.1530/endoabs.36.p12
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. 10.1210/jc.2013-3844
Prasad R, Kowalczyk JC, Meimaridou E, Storr HL and Metherell LA (2014). Oxidative stress and adrenocortical insufficiency. J Endocrinol  vol. 221, (3) R63-R73. 10.1530/JOE-13-0346
Meimaridou E, Prasad R, Kowalczyk J, Clark A, Storr H and Metherell L (2014). Mitochondrial thiol systems are important players in antioxidant defence for the human adrenal cortex. Bioscientifica  Endocrine Abstracts  10.1530/endoabs.35.p38
Högler W, Martin DD, Crabtree N, Nightingale P, Tomlinson J, Metherell L, Rosenfeld R, Hwa V, Rose S, Walker J, Shaw N, Barrett T and Frystyk J (2014). IGFALS gene dosage effects on serum IGF-I and glucose metabolism, body composition, bone growth in length and width, and the pharmacokinetics of recombinant human IGF-I administration. J Clin Endocrinol Metab  vol. 99, (4) E703-E712. 10.1210/jc.2013-3718
Howard S, Guasti L, Storr H, Metherell L, Cariboni A, Barnes M, Cabrera C, Wehkalampi K and Dunkel L (2014). A novel gene affecting the timing of puberty. Bioscientifica  Endocrine Abstracts  10.1530/endoabs.34.p158
Poukoulidou T, Kowalczyk J, Metherell L, De Schepper J and Maes M (2014). A Novel Homozygous Mutation of the IGFALS Gene in a Female Adolescent: Indirect Evidence for a Contributing Role of the Circulating IGF-I Pool in the Pubertal Growth Spurt. Hormone Research in Paediatrics  vol. 81, (6) 422-427. 10.1159/000358329

2013

Prasad R, Metherell LA, Clark AJ and Storr HL (2013). Deficiency of ALADIN impairs redox homeostasis in human adrenal cells and inhibits steroidogenesis. Endocrinology  vol. 154, (9) 3209-3218. 10.1210/en.2013-1241
Meimaridou E, Prasad R, Kowalczyk JC, Clark AJL, Storr HL and Metherell LA (2013). PP43 Genome sequencing reveals mitochondrial thiol systems are essential for antioxidant defence in human adrenal glands. Elsevier  Free Radical Biology and Medicine  vol. 65, 10.1016/j.freeradbiomed.2013.08.052
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. 10.1016/j.mce.2012.12.010
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. 10.1016/j.mce.2012.12.010
Howard S, Barnes M, Storr H, Wehkalampi K, Metherell L and Dunkel L (2013). Familial constitutional delay in growth and puberty is a condition with significant genetic heterogeneity and limited overlap with the timing of puberty in the general population. Bioscientifica  Endocrine Abstracts  1-1. 10.1530/endoabs.31.p145
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. 10.1530/endoabs.31.oc2.5
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. 10.1159/000342504
Habeb AM, Hughes CR, Al-Arabi R, Al-Muhamadi A, Clark AJL and Metherell LA (2013). Familial glucocorticoid deficiency: a diagnostic challenge during acute illness. European Journal of Pediatrics  vol. 172, (10) 1407-1410. 10.1007/s00431-013-2044-1
Yates R, Katugampola H, Cavlan D, Cogger K, Meimaridou E, Hughes C, Metherell L, Guasti L and King P (2013). Adrenocortical development, maintenance, and disease. Curr Top Dev Biol  vol. 106, 239-312. 10.1016/B978-0-12-416021-7.00007-9

2012

Meimaridou E, Kowalczyk J, Guasti L, Hughes CR, Wagner F, Frommolt P, Nürnberg P, Mann NP, Banerjee R, Saka HN, Chapple JP, King PJ, Clark AJL and Metherell LA (2012). Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency. Nat Genet  vol. 44, (7) 740-742. 10.1038/ng.2299
Turan S, Hughes C, Atay Z, Guran T, Haliloglu B, Clark AJL, Bereket A and Metherell LA (2012). An atypical case of familial glucocorticoid deficiency without pigmentation caused by coexistent homozygous mutations in MC2R (T152K) and MC1R (R160W). J Clin Endocrinol Metab  vol. 97, (5) E771-E774. 10.1210/jc.2011-2414
Hughes CR, Guasti L, Meimaridou E, Chuang C-H, Schimenti JC, King PJ, Costigan C, Clark AJL and Metherell LA (2012). MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans. Journal of Clinical Investigation  vol. 122, (3) 814-820. 10.1172/JCI60224

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. 10.1530/EJE-11-0581
McEachern R, Drouin J, Metherell L, Huot C, Van Vliet G and Deal C (2011). Severe cortisol deficiency associated with reversible growth hormone deficiency in two infants: what is the link? J Clin Endocrinol Metab  vol. 96, (9) 2670-2674. 10.1210/jc.2011-0129
David A, Hwa V, Metherell LA, Netchine I, Camacho-Hübner C, Clark AJL, Rosenfeld RG and Savage MO (2011). Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity. Endocr Rev  vol. 32, (4) 472-497. 10.1210/er.2010-0023
Metherell LA, STORR HL and Savage MO (2011). Genetic defects of the human somatotrophic axis. Oxford Textbook of Endocrinology and Diabetes , Editors: Wass JAH and Stewart PM. Oxford University Press  10.1093/med/9780199235292.003.7052
Hughes C, Metherell L and Clark AJL (2011). Familial glucocorticoid deficiency. Oxford Textbook of Endocrinology and Diabetes  Oxford University Press (Oup)  10.1093/med/9780199235292.003.0611
Chan LF, Metherell LA and Clark AJL (2011). Effects of melanocortins on adrenal gland physiology. Eur J Pharmacol  vol. 660, (1) 171-180. 10.1016/j.ejphar.2010.11.041
Savage MO, Hwa V, David A, Rosenfeld RG and Metherell LA (2011). Genetic Defects in the Growth Hormone-IGF-I Axis Causing Growth Hormone Insensitivity and Impaired Linear Growth. Front Endocrinol (Lausanne)  vol. 2, 10.3389/fendo.2011.00095

2010

Hughes CR, Chung TT, Habeb AM, Kelestimur F, Clark AJL and Metherell LA (2010). Missense mutations in the melanocortin 2 receptor accessory protein that lead to late onset familial glucocorticoid deficiency type 2. J Clin Endocrinol Metab  vol. 95, (7) 3497-3501. 10.1210/jc.2009-2731
David A, Srirangalingam U, Metherell LA, Khoo B and Clark AJL (2010). Repair of aberrant splicing in growth hormone receptor by antisense oligonucleotides targeting the splice sites of a pseudoexon. J Clin Endocrinol Metab  vol. 95, (7) 3542-3546. 10.1210/jc.2009-1968
Moyes VJ, Walker DM, Owusu-Antwi S, Maher KT, Metherell L, Akker SA, Monson JP, Clark AJL and Drake WM (2010). d3-GHR genotype does not explain heterogeneity in GH responsiveness in hypopituitary adults. Clin Endocrinol (Oxf)  vol. 72, (6) 807-813. 10.1111/j.1365-2265.2009.03768.x
David A, Srirangalingam U, Metherell LA, Khoo B and Clark AJL (2010). Repair of Aberrant Splicing in Growth Hormone Receptor by Antisense Oligonucleotides Targeting the Splice Sites of a Pseudoexon. The Endocrine Society  Endocrinology  vol. 24, (6) 1305-1305. 10.1210/mend.24.6.9994
Hughes C, Chung TT, Clark AJ and Metherell L (2010). FUNCTIONAL CHARACTERISATION OF A MISSENSE MUTATION OF MRAP LEADING TO FAMILIAL GLUCOCORTICOID DEFICIENCY. Irish J Med Sci  vol. 179, S263-S263.
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. 10.1111/j.1365-2265.2009.03663.x
Hughes CR, Chung TT, Habeb AM, Kelestimur F, Clark AJL and Metherell LA (2010). Missense Mutations in the Melanocortin 2 Receptor Accessory Protein That Lead to Late Onset Familial Glucocorticoid Deficiency Type 2. The Endocrine Society  Endocrinology  vol. 151, (6) 2957-2958. 10.1210/endo.151.6.9991
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. 10.1530/EJE-09-0720
David A, Miraki-Moud F, Shaw NJ, Savage MO, Clark AJL and Metherell LA (2010). Identification and characterisation of a novel GHR defect disrupting the polypyrimidine tract and resulting in GH insensitivity. Eur J Endocrinol  vol. 162, (1) 37-42. 10.1530/EJE-09-0583
David A, Rose SJ, Miraki-Moud F, Metherell LA, Savage MO, Clark AJL and Camacho-Hübner C (2010). Acid-labile subunit deficiency and growth failure: description of two novel cases. Horm Res Paediatr  vol. 73, (5) 328-334. 10.1159/000308164
Storr HL, Metherell LA, Dias R, Savage MO, Rasmussen AK, Clark AJL and Main KM (2010). Familial Isolated Primary Pigmented Nodular Adrenocortical Disease Associated with a Novel Low Penetrance PRKAR1A Gene Splice Site Mutation. Horm Res Paediat  vol. 73, (2) 115-119. 10.1159/000277629
Storr HL, Metherell LA, Dias R, Savage MO, Rasmussen AK, Clark AJL and Main KM (2010). Familial isolated primary pigmented nodular adrenocortical disease associated with a novel low penetrance PRKAR1A gene splice site mutation. Horm Res Paediatr  vol. 73, (2) 115-119. 10.1159/000277629

2009

Metherell LA, Naville D, Halaby G, Begeot M, Huebner A, Nürnberg G, Nürnberg P, Green J, Tomlinson JW, Krone NP, Lin L, Racine M, Berney DM, Achermann JC, Arlt W and Clark AJL (2009). Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency. J Clin Endocrinol Metab  vol. 94, (10) 3865-3871. 10.1210/jc.2009-0467
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. 10.1111/j.1365-2265.2008.03511.x
Milward A, Metherell L, Maamra M, Barahona MJ, Wilkinson IR, Camacho-Hübner C, Savage MO, Bidlingmaier CM, Clark AJL, Ross RJM and Webb SM (2009). Growth hormone (GH) insensitivity syndrome due to a GH receptor truncated after box1, resulting in isolated failure of STAT 5 signal transduction (Journal of Clinical Endocrinology and Metabolism (2004) 89 (1259-1266)). Journal of Clinical Endocrinology and Metabolism  vol. 94, (7)
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. 10.1073/pnas.0809918106
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. 10.1530/EJE-08-0636
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. 10.1016/j.beem.2008.09.006
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. 10.1016/j.mce.2008.10.004
Savage MO, David A, Camacho-Hubner C, Metherell LA and Clark AJL (2009). Phenotypic aspects of growth hormone- and IGF-I-resistant syndromes. Endocr Dev  vol. 14, 143-150. 10.1159/000207483
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.
Milward A, Metherell L, Maamra M, Barahona MJ, Wilkinson IR, Camacho-Huebner C, Savage MO, Bidlingmaier CM, Clark AJL, Ross RJM and Webb SM (2009). Growth Hormone (GH) Insensitivity Syndrome due to a GH Receptor Truncated after Box1, Resulting in Isolated Failure of STAT 5 Signal Transduction (vol 89, pg 1259, 2004). Journal of Clinical Endocrinology & Metabolism  vol. 94, (7) 2674-2674.
Hughes CR, Chung TT, Habeb AM, Clark AJ and Metherell LA (2009). Functional characterisation of a missense mutation (p.Y59D) of MRAP which leads to familial glucocorticoid deficiency type 2. Horm Res  vol. 72, 42-42.

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. 10.1210/jc.2008-1744
Camacho-Hübner C, David A, Rose S, Metherell L, Clark A and Savage MO (2008). OR9,3 Acid-labile subunit gene mutations: clinical, biochemical and molecular study in two unrelated families. Elsevier  Growth Hormone & Igf Research  vol. 18, 10.1016/s1096-6374(08)70059-5
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. 10.1159/000111810
Cooray SN, Chan L, Metherell L, Storr H and Clark AJL (2008). Adrenocorticotropin resistance syndromes. Endocr Dev  vol. 13, 99-116. 10.1159/000134828
David A, Rose S, Miraki-Moud F, Metherell L, Clark A, Savage M and Camacho-Hubner C (2008). Acid-labile subunit gene mutations: Clinical, biochemical and molecular study in two unrelated families. Horm Res  vol. 70, 31-31.
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.

2007

Vallette-Kasic S, Couture C, Balsalobre A, Gauthier Y, Metherell L, Dattani M and Drouin J (2007). The TPIT gene mutation M86R associated with isolated adrenocorticotropin deficiency interferes with protein: Protein interactions. J Clin Endocr Metab  vol. 92, (10) 3991-3999. 10.1210/jc.2007-0284
Rumié H, Metherell LA, Clark AJL, Beauloye V and Maes M (2007). Clinical and biological phenotype of a patient with familial glucocorticoid deficiency type 2 caused by a mutation of melanocortin 2 receptor accessory protein. Eur J Endocrinol  vol. 157, (4) 539-542. 10.1530/EJE-07-0242
Savage MO, Camacho-Hübner C, David A, Metherell LA, Hwa V, Rosenfeld RG and Clark AJL (2007). Idiopathic short stature: will genetics influence the choice between GH and IGF-I therapy? Eur J Endocrinol  vol. 157 Suppl 1, S33-S37. 10.1530/EJE-07-0292
Keegan CE, Hutz JE, Krause AS, Koehler K, Metherell LA, Boikos S, Stergiopoulos S, Clark AJL, Stratakis CA, Huebner A and Hammer GD (2007). Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes. Clin Endocrinol  vol. 67, (2) 168-174. 10.1111/j.1365-2265.2007.02855.x
David A, Camacho-Hübner C, Bhangoo A, Rose SJ, Miraki-Moud F, Akker SA, Butler GE, Ten S, Clayton PE, Clark AJL, Savage MO and Metherell LA (2007). An intronic growth hormone receptor mutation causing activation of a pseudoexon is associated with a broad spectrum of growth hormone insensitivity phenotypes. J Clin Endocrinol Metab  vol. 92, (2) 655-659. 10.1210/jc.2006-1527
Lin L, Hindmarsh PC, Metherell LA, Alzyoud M, Al-Ali M, Brain CE, Clark AJL, Dattani MT and Achermann JC (2007). Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia. Clin Endocrinol (Oxf)  vol. 66, (2) 205-210. 10.1111/j.1365-2265.2006.02709.x
Hwa V, Camacho-Hübner C, Little BM, David A, Metherell LA, El-Khatib N, Savage MO and Rosenfeld RG (2007). Growth hormone insensitivity and severe short stature in siblings: a novel mutation at the exon 13-intron 13 junction of the STAT5b gene. Horm Res  vol. 68, (5) 218-224. 10.1159/000101334

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. 10.1016/j.beem.2006.09.002
Savage MO, Attie KM, David A, Metherell LA, Clark AJL and Camacho-Hübner C (2006). Endocrine assessment, molecular characterization and treatment of growth hormone insensitivity disorders. Nat Clin Pract Endocrinol Metab  vol. 2, (7) 395-407. 10.1038/ncpendmet0195
Clark AJL and Metherell LA (2006). Mechanisms of disease: the adrenocorticotropin receptor and disease. Nat Clin Pract Endocrinol Metab  vol. 2, (5) 282-290. 10.1038/ncpendmet0165
Maamra M, Milward A, Esfahani HZ, Abbott LP, Metherell LA, Savage MO, Clark AJL and Ross RJM (2006). A 36 residues insertion in the dimerization domain of the growth hormone receptor results in defective trafficking rather than impaired signaling. J Endocrinol  vol. 188, (2) 251-261. 10.1677/joe.1.06252

2005

Clark AJL, Metherell LA, Cheetham ME and Huebner A (2005). Inherited ACTH insensitivity illuminates the mechanisms of ACTH action. Trends Endocrinol Metab  vol. 16, (10) 451-457. 10.1016/j.tem.2005.10.006
David A, Metherell LA, Clark AJL, Camacho-Hubner C and Savage MO (2005). Diagnostic and therapeutic advances in growth hormone insensitivity. Endocrin Metab Clin  vol. 34, (3) 581-+. 10.1016/j.ecl.2005.04.009
Hui HNT, Metherell LA, Ng KL, Savage MO, Camacho-Hubner C and Clark AJL (2005). Novel growth hormone receptor mutation in a Chinese patient with Laron syndrome. J Pediatr Endocr Met  vol. 18, (2) 209-213. 10.1515/jpem.2005.18.2.209
Metherell LA, Chapple JP, Cooray S, David A, Becker C, Rüschendorf F, Naville D, Begeot M, Khoo B, Nürnberg P, Huebner A, Cheetham ME and Clark AJL (2005). Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. Nat Genet  vol. 37, (2) 166-170. 10.1038/ng1501
CLARK AJL, Metherell LA, Huebner A, Begeot M and Naville D (2005). Genetics of ACTH insensitivity syndromes. Annals of Endocrinology  vol. 66, 247-249. 10.1016/S0003-4266(05)81757-3

2004

Metherell LA, Savage MO, Dattani M, Walker J, Clayton PE, Farooqi IS and Clark AJL (2004). TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency. Eur J Endocrinol  vol. 151, (4) 463-465. 10.1530/eje.0.1510463
Milward A, Metherell L, Maamra M, Barahona MJ, Wilkinson IR, Camacho-Hubner C, Savage MO, Bidlingmaier CM, Clark AJL, Ross RJM and Webb SM (2004). Growth hormone (GH) insensitivity syndrome due to a GH receptor truncated after box1, resulting in isolated failure of STAT 5 signal transduction. J Clin Endocr Metab  vol. 89, (3) 1259-1266. 10.1210/jc.2003-031418

2003

Kola B, Korbonits M, Diaz-Cano S, Kaltsas G, Morris DG, Jordan S, Metherell L, Powell M, Czirják S, Arnaldi G, Bustin S, Boscaro M, Mantero F and Grossman AB (2003). Reduced expression of the growth hormone and type 1 insulin-like growth factor receptors in human somatotroph tumours and an analysis of possible mutations of the growth hormone receptor. Clin Endocrinol (Oxf)  vol. 59, (3) 328-338. 10.1046/j.1365-2265.2003.01851.x
Swords F, Metherell L, Arola J and Clark A (2003). No Evidence for a Role for Mutations in the cAMP-Dependent Protein Kinase a Regulatory Subunit in Hyperfunctioning Adrenocortical Adenomas. Portland Press  Clinical Science  vol. 104, (s49) 20p-20p. 10.1042/cs104020p

2002

Bjarnason R, Banerjee K, Rose SJ, Rosberg S, Metherell L, Clark AJL, Albertsson-Wikland K and Savage MO (2002). Spontaneous growth hormone secretory characteristics in children with partial growth hormone insensitivity. Clin Endocrinol  vol. 57, (3) 357-361. 10.1046/j.1365-2265.2002.01607.x

2001

Metherell LA, Akker SA, Munroe PB, Rose SJ, Caulfield M, Savage MO, Chew SL and Clark AJ (2001). Pseudoexon activation as a novel mechanism for disease resulting in atypical growth-hormone insensitivity. Am J Hum Genet  vol. 69, (3) 641-646. 10.1086/323266
Edwards KJ, Metherell LA, Yates M and Saunders NA (2001). Detection of rpoB mutations in Mycobacterium tuberculosis by biprobe analysis. J Clin Microbiol  vol. 39, (9) 3350-3352. 10.1128/JCM.39.9.3350-3352.2001
Clark AJ, Metherell L, Swords FM and Elias LL (2001). The molecular pathogenesis of ACTH insensitivity syndromes. Ann Endocrinol (Paris)  vol. 62, (2) 207-211.
Clark AJ, Metherell L, Swords FM and Elias LL (2001). The molecular pathogenesis of ACTH insensitivity syndromes. Annales D'Endocrinologie  vol. 62, (2) 207-211.

2000

Elias LLK, Huebner A, Metherell LA, Canas A, Warne GL, Bitti MLM, Cianfarani S, Clayton PE, Savage MO and Clark AJL (2000). Tall stature in familial glucocorticoid deficiency. Wiley  Clinical Endocrinology  vol. 53, (4) 423-430. 10.1046/j.1365-2265.2000.01122.x

1999

CLODE FE, METHERELL LA and PITT TL (1999). NOSOCOMIAL ACQUISITION OF BURKHOLDERIA GLADIOLI IN PATIENTS WITH CYSTIC FIBROSIS. American Thoracic Society  American Journal of Respiratory and Critical Care Medicine  vol. 160, (1) 374-375. 10.1164/ajrccm.160.1.16011
Arnold C, Metherell L, Willshaw G, Maggs A and Stanley J (1999). Predictive Fluorescent Amplified-Fragment Length Polymorphism Analysis of Escherichia coli: High-Resolution Typing Method with Phylogenetic Significance. American Society For Microbiology  Journal of Clinical Microbiology  vol. 37, (5) 1274-1279. 10.1128/jcm.37.5.1274-1279.1999
Metherell LA, Logan JMJ and Stanley J (1999). PCR–Enzyme-Linked Immunosorbent Assay for Detection and Identification of Campylobacter Species: Application to Isolates and Stool Samples. American Society For Microbiology  Journal of Clinical Microbiology  vol. 37, (2) 433-435. 10.1128/jcm.37.2.433-435.1999
Arnold C, Metherell L, Clewley JP and Stanley J (1999). Predictive modelling of fluorescent AFLP: a new approach to the molecular epidemiology of E. coli. Elsevier  Research in Microbiology  vol. 150, (1) 33-44. 10.1016/s0923-2508(99)80044-8

1997

Saunders NA, Hallas G, Gaworzewska ET, Metherell L, Efstratiou A, Hookey JV and George RC (1997). PCR-enzyme-linked immunosorbent assay and sequencing as an alternative to serology for M-antigen typing of Streptococcus pyogenes. American Society For Microbiology  Journal of Clinical Microbiology  vol. 35, (10) 2689-2691. 10.1128/jcm.35.10.2689-2691.1997
Saunders NA, Metherell L and Patel S (1997). Investigation of an outbreak of multidrug resistant tuberculosis among renal patients using rpo B genes sequencing and IS6110 inverse PCR. Elsevier  Journal of Infection  vol. 35, (2) 129-133. 10.1016/s0163-4453(97)91512-7
Metherell LA, Hurst C and Bruce IJ (1997). Rapid, sensitive, microbial detection by gene amplification using restriction endonuclease target sequences. Elsevier  Molecular and Cellular Probes  vol. 11, (4) 297-308. 10.1006/mcpr.1997.0120

Grants

Grants of specific relevance to Predictive in vitro Models
The role of MYLK3 in cardiac signalling and development
Metherell L and Williams J
£632,000 British Heart Foundation (01-01-2022 - 31-12-2024)
Deciphering mechanisms of disease associated with Sphingosine-1-phosphate lyase deficiency
Prasad R and Metherell L
£248,693 Medical Research Council (01-11-2019 - 31-12-2024)
Summary

Interrogating the role of SGPL1 in adrenal/gonadal development and acute steroidogenesis
Metherell L, Prasad R and Kwong R
£378,305 Medical Research Council (04-03-2022 - 03-03-2024)
Improved genetic diagnosis of primary adrenal insufficiency
Storr HL, Metherell LA and Chan L
£500,199 Barts Charity (01-08-2018 - 31-07-2022)
The role of myosin light chain kinase 3 (Mylk3) in dilated cardiomyopathy
Williams J and Metherell L
£114,000 Barts Charity (01-04-2021 - 01-04-2022)
Investigating the role of the sphingolipid pathway in a novel syndromic form of primary adrenal insufficiency
Metherell LA and Prasad R
£318,860 Barts Charity (01-04-2020 - 01-01-2020)
Antioxidant defence in adrenocortical cells
Metherell LA
£392,467 Medical Research Council (31-03-2013 - 30-03-2016)
Summary
ACTH receptor pathway defects as the cause of Familial Glucocorticoid Deficiency type 3 (FGD3)
Metherell LA and Juresh C
£495,810 Medical Research Council (31-03-2009 - 31-03-2013)
Summary
ACTH receptor pathway defects as the cause of Familial Glucocorticoid Deficiency type 3 (FGD3)
Metherell L and Juresh C
£495,810 Medical Research Council (31-03-2009 - 31-03-2013)
Summary
MRAP2 (Melanocortin Receptor Accessory Protein Two) and its role in melanocortin receptor trafficking and expression
Chan L, Clark A and Metherell L
£130,934 Medical Research Council (04-09-2006 - 03-09-2008)
Summary