Prof Lou Metherell

Lou Metherell
BSc PhD

Professor of Endocrine Genetics

Centre for Endocrinology, William Harvey Research Institute
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

solid heart iconPublications of specific relevance to Predictive <em>in vitro</em> Models

2025

Adrenal insufficiency associated with mutations in haem biosynthesis genes
Al-Salihi A, Smith C, Perez-Ternero C, Jackson A, Janecke A, Steichen E, Darby D, Griffin L, Banka S, Elsayed S, Talbi N, Gouya L, Delemer B, Taylor D, Chan L and Metherell L
Endocrine Abstracts, Bioscientifica 
09-05-2025
WES as a Tool for Differential Diagnosis of Adrenal Insufficiency in Sudanese Children
Smith C, Abdullah M, Hassan S, Fauzi L, Qamar Y, Hall C, Maitra S, Maharaj A, Ramirez LM, Read J, Chan L, Musa S and Metherell L
Endocrine Abstracts, Bioscientifica 
09-05-2025
The genetics of adrenal insufficiency, evolution of methodologies over 35 years in a single centre
Smith C, Prasad R, Hughes C, Maharaj A, Qamar Y, Maitra S, Hutchison C, Ramirez LM, Fauzi L, Read J, Hall C, Mohammedali M, Maudhoo A, Storr H, Clark A, Chan L and Metherell L
Endocrine Abstracts, Bioscientifica 
09-05-2025
Reassessing the role of the p.(Arg304Gln) missense AIP variant in pituitary tumorigenesis
Loughrey PB, Mothojakan NB, Iacovazzo D, Arni A, Aflorei ED, Arnaldi G, Barlier A, Beckers A, Bizzi MF, Chanson P, Dal J, Daly AF, Dang MN, David A, de Oliveira Andrade M, Else T, Elston MS, Evans A, Ferrau F, Fica S, Flanagan D, Gadelha MR, Grossman AB, Kapur S, Khoo B, Kumar AV, Kumar-Sinha C, Lechan RM, Ludman M and Metherell LA
European Journal of Endocrinology, Oxford University Press (Oup) vol. 192 (4), 385-397.  
12-03-2025
Novel recurrent mutations and genetic diversity in Sudanese children with adrenal insufficiency
Musa SA, Abdullah MA, Hassan SS, Fauzi LS, Babiker OO, Ahmed AI, Mohammedali M, Hutchison C, Mohamadsalih G, Hall CL, Maitra S, Ibrahim AA, Qamar Y, Maharaj AV, Ramirez LMM, Read J, Chan LF, Metherell LA and Smith CJ
European Journal of Endocrinology, Oxford University Press (Oup) vol. 192 (3), 277-289.  
03-03-2025
CRISPR-Cas9 MRAP knockout H295R clones as a tool to study familial glucocorticoid deficiency type 2 (FGD2)
Xu R, Gregoriou K, Metherell L and Chan L
Endocrine Abstracts, Bioscientifica 
19-02-2025
Characteristics of familial glucocorticoid deficiency (FGD) type-1 and 2: an update
Gregoriou K, Smith C, Metherell L and Chan L
Endocrine Abstracts, Bioscientifica 
19-02-2025

2024

8482 Genetic Aetiology Of Primary Adrenal Insufficiency In Sudan
Smith CJ, Abdullah MA, Hassan SS, Fauzi LS, Qamar Y, Hall CL, Maitra S, Maharaj AV, Ramirez LMM, Read JE, Chan L, Metherell L and Musa SA
Journal of The Endocrine Society, The Endocrine Society vol. 8 (Supplement_1) 
05-10-2024
Adrenal insufficiency associated with mutations in haem biosynthesis genes, is it a coincidence?
Al-Salihi A, Smith C, Jackson A, Janecke A, Steichen E, Darby D, Griffin L, Banka S, Elsayed S, Talbi N, Gouya L, Delemer B, Chan L and Metherell L
Endocrine Abstracts, Bioscientifica 
16-09-2024
WES as a tool for differential diagnosis of adrenal insufficiency in sudanese children
Smith C, Abdullah M, Hassan S, Fauzi L, Qamar Y, Hall C, Maitra S, Maharaj A, Marroquin RL, Read J, Chan L, Musa S and Metherell L
Endocrine Abstracts, Bioscientifica 
16-09-2024

2023

Choice of gDNA isolation method has a significant impact on average murine Telomere Length estimates
Kidd E, Meimaridou E, Williams J, Metherell LA, Walley AJ and Fairbrother UL
Preparative Biochemistry & Biotechnology, Taylor & Francis vol. 54 (6), 788-795.  
13-12-2023
Adrenal insufficiency can be associated with biallelic mutations in porphyria genes
Smith C, Al-Salihi A, Janecke A, Steichen E, Banka S, Jackson A, Darby D, Griffin L, Stewart S, Elsayed S, Talbi N, Gouya L, Chan L and Metherell L
Endocrine Abstracts, Bioscientifica 
31-10-2023
Genetic aetiology of primary adrenal insufficiency in Sudan
Smith C, Abdullah M, Hassan S, Fauzi L, Qamar Y, Hall C, Maitra S, Maharaj A, Marroquin RL, Read J, Chan L, Metherell L and Musa S
Endocrine Abstracts, Bioscientifica 
31-10-2023
SAT292 Adrenal Insufficiency Associated With Biallelic Mutations In Porphyria Genes
Smith C, Jackson A, Al-Salihi A, Janecke A, Steichen E, Darby D, Griffin L, Banka S, Elsayed S, Chan L and Metherell L
Journal of The Endocrine Society, The Endocrine Society vol. 7 (Supplement_1) 
05-10-2023
Abstract P2043: Loss Of Full-length Mylk3 Causes Dilated Cardiomyopathy Via A Myl2-independent Mechanism
Williams JL, Smith CJ, Mastroianni G, Stewart M, Cutillas P, Tinker A and Metherell L
Circulation Research, Wolters Kluwer vol. 133 (Suppl_1) 
04-08-2023
Genetic Aetiology of Primary Adrenal Insufficiency in Sudan
Smith C, Abdullah M, Hassan S, Qamar Y, Hall C, Maitra S, Maharaj A, Mariela MRL, Read J, Chan L, Metherell L and Musa S
Endocrine Abstracts, Bioscientifica 
02-05-2023
Adrenal Insufficiency Associated with Biallelic Mutations in Porphyria Genes
Smith C, Jackson A, Al-Salihi A, Janecke A, Steichen E, Darby D, Griffin L, Banka S, Elsayed S, Chan L and Metherell L
Endocrine Abstracts, Bioscientifica 
02-05-2023
769 Reduced expression of PPOX, the variegate porphyria gene, causes intrinsic pathological changes to keratinocytes
Smith CJ, Chan L and Metherell LA
Journal of Investigative Dermatology, Elsevier vol. 143 (5) 
01-05-2023
Characterization of dominant-negative growth hormone receptor variants reveals a potential therapeutic target for short stature
Andrews A, Cottrell E, Maharaj A, Ladha T, Williams J, Schilbach K, Kaisinger LR, Perry JRB, Metherell LA, McCormick PJ and Storr HL
European Journal of Endocrinology, Oxford University Press (Oup) vol. 188 (4), 353-365.  
21-03-2023
Ichthyosis linked to sphingosine 1-phosphate lyase insufficiency is due to aberrant sphingolipid and calcium regulation
Smith CJ, Williams JL, Hall C, Casas J, Caley MP, O'Toole EA, Prasad R and Metherell LA
Journal of Lipid Research, Elsevier vol. 64 (4) 
02-03-2023
Elevated sphingosine-1-phosphate lyase leads to increased metabolism and reduced survival in adrenocortical carcinoma
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
European Journal of Endocrinology, Oxford University Press (Oup) vol. 188 (1) 
10-01-2023
Adrenal Dysfunction in Mitochondrial Diseases
Corkery-Hayward M and Metherell LA
International Journal of Molecular Sciences, Mdpi vol. 24 (2) 
06-01-2023

2022

181 Sphingosine 1-phosphate lyase insufficiency induced ichthyosis is due to sphingolipid imbalance, increased differentiation, and aberrant intercellular junctions
Smith CJ, Williams JL, Hall C, Caley MP, O’Toole EA, Prasad R and Metherell LA
Journal of Investigative Dermatology, Elsevier vol. 142 (12) 
01-12-2022
RF33 | PSAT69 A Combined Candidate Gene/Whole Exome Sequencing Approach Permits a Rapid Genetic Diagnosis for >81% Individuals with Primary Adrenal Insufficiency.
Chan L, Smith C, Read J, Hall C, Maharaj A, Ramirez LM, Qamar Y, Hughes C, Clark A, Musa S, Prasad R and Metherell L
Journal of The Endocrine Society, The Endocrine Society vol. 6 (Supplement_2), a140-a141.  
01-11-2022
Understanding the molecular basis of short stature in six patients with pathogenic variants in HMGA2
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
Endocrine Abstracts, Bioscientifica 
17-10-2022
The lack of genotype: phenotype correlations in rare causes of primary adrenal insufficiency highlights the need for genetic testing
Maitra S, Smith C, Hall C, Read J, Maharaj AV, Mariela MRL, Qamar Y, Prasad R, Chan LF and Metherell LA
Endocrine Abstracts, Bioscientifica 
17-10-2022
SGPL1 deficiency impairs Leydig cell steroidogenesis and should be considered in 46XY individuals with DSD and adrenal insufficiency
Ming WKR, Williams J, Maharaj AV, Metherell L and Prasad R
Endocrine Abstracts, Bioscientifica 
17-10-2022
ESDR181 - Sphingosine 1-phosphate lyase insufficiency induced ichthyosis is due to sphingolipid imbalance, increased differentiation, and aberrant intercellular junctions.
Smith C, Williams J, Hall C, Caley M, O'Toole E, Prasad R and Metherell L
, Morressier 
22-09-2022
Genetic characterization of short stature patients with overlapping features of growth hormone insensitivity syndromes
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
, Bioscientifica 
12-09-2022
Abstract P2005: Loss Of Full-length Mylk3 Causes Dilated Cardiomyopathy Via A MYL2-independent Mechanism
Williams JL, Paudyal A, Stewart M, Cutillas P, Tinker A and Metherell L
Circulation Research, Wolters Kluwer vol. 131 (Suppl_1), ap2005-ap2005.  
05-08-2022
A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review
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
Endocrine Connections, Bioscientifica vol. 11 (8) 
25-07-2022
Elevated SGPL1 expression is associated with increased metabolic rate in cells and reduced survival in individuals with adrenocortical carcinoma
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
Endocrine Abstracts, Bioscientifica 
07-05-2022
A rapid genetic diagnosis for >80% individuals with non-CAH Primary Adrenal Insufficiency is achievable by candidate gene sequencing combined with WES
Smith C, Read J, Hall C, Maharaj A, Marroquin RL, Qamar Y, Hughes C, Clark A, Prasad R, Chan L, Musa S and Metherell L
Endocrine Abstracts, Bioscientifica 
07-05-2022
Can Digenic, Tri-Allelic Inheritance of Variants in STAR and CYP11A1 Give Rise to Primary Adrenal Insufficiency? A Case Report
Ali N, Maharaj AV, Buonocore F, Achermann JC and Metherell LA
Frontiers in Endocrinology, Frontiers vol. 13 
28-03-2022
Insights From Long-term Follow-up of a Girl With Adrenal Insufficiency and Sphingosine-1-Phosphate Lyase Deficiency
Maharaj A, Güran T, Buonocore F, Achermann JC, Metherell L, Prasad R and Çetinkaya S
Journal of The Endocrine Society, The Endocrine Society vol. 6 (5) 
11-02-2022

2021

Exome sequencing identifies a novel fbn1 variant in a pakistani family with marfan syndrome that includes left ventricle diastolic dysfunction
Farooqi N, Metherell LA, Schrauwen I, Acharya A, Khan Q, Nouel Saied LM, Ali Y, El-Serehy HA, Jalil F and Leal SM
Genes vol. 12 (12) 
28-11-2021
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
Williams J, paudyal A, Stewart M, Cutillas P, Cox RD, Tinker A and Metherell L
Circulation, Wolters Kluwer vol. 144 (Suppl_1), a14037-a14037.  
16-11-2021
Growth hormone receptor 6Ω pseudoexon activation: a novel cause of severe growth hormone insensitivity
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
Endocrine Abstracts, Bioscientifica 
08-11-2021
In vitro splicing assay proves the pathogenicity of intronic variants in MRAP
Smith C, Maharaj A, Qamar Y, Read J, Williams J, Marimuthu V, Chan L and Metherell L
Endocrine Abstracts, Bioscientifica 
18-10-2021
SGPL1 regulates expression of electron transport chain components to modulate cellular metabolism in the adrenal gland
Williams J, Smith C, Maharaj A, Kwong R, Hall C, Metherell L and Prasad R
Endocrine Abstracts, Bioscientifica 
18-10-2021
099 Ichthyosis associated with sphingosine 1-phosphate lyase deficiency is due to aberrant calcium and sphingolipid regulation
Smith CJ, Williams JL, Caley MP, O’Toole EA, Prasad R and Metherell LA
Journal of Investigative Dermatology vol. 141 (10), s165-s165.  
07-10-2021
Missplicing due to a synonymous, T96= exonic substitution in the T-box transcription factor TBX19 resulting in isolated ACTH deficiency
Maudhoo A, Maharaj A, Buonocore F, Martos-Moreno GA, Argente J, Achermann JC, Chan LF and Metherell LA
Endocrinology Diabetes and Metabolism Case Reports, Bioscientifica vol. 2021, 21-0128.  
01-09-2021
Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause
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
Nature Genetics 
12-08-2021
Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause.
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
Nature Genetics, Nature Research 
12-08-2021
Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK
Buonocore F, Maharaj A, Qamar Y, Koehler K, Suntharalingham JP, Chan LF, Ferraz-De-Souza B, Hughes CR, 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
Journal of The Endocrine Society vol. 5 (8) 
01-08-2021
Growth Hormone Receptor (Ghr) 6ω Pseudoexon Activation: A Novel Cause Of Severe Growth Hormone Insensitivity (Ghi).
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
J Clin Endocrinol Metab 
28-07-2021
Growth Hormone Receptor (GHR) 6Ω Pseudoexon Activation: a Novel Cause of Severe Growth Hormone Insensitivity.
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
J Clin Endocrinol Metab 
28-07-2021
Genetic Characterization of Short Stature Patients with Overlapping Features of Growth Hormone Insensitivity Syndromes
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
Journal of Clinical Endocrinology and Metabolism vol. 106 (11), E4716-E4733.  
16-06-2021
Loss of Nnt Increases Expression of Oxidative Phosphorylation Complexes in C57BL/6J Hearts
Williams JL, Hall CL, Meimaridou E and Metherell LA
International Journal of Molecular Sciences, Mdpi vol. 22 (11) 
05-06-2021
Sphingosine 1- Phosphate Lyase Insufficiency Syndrome (SPLIS); A Role in Multiple Endocrinopathies
Kwong RMW, Maharaj AV, Metherell L and Prasad R
Journal of The Endocrine Society vol. 5 (Suppl 1), a662-a662.  
03-05-2021
Somatic Mutations of GNA11 and GNAQ in CTNNB1-Mutant Aldosterone-Producing Adenomas Increases Aldosterone and Aldosterone Synthase (CYP11B2)
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
Journal of The Endocrine Society, The Endocrine Society vol. 5 (Supplement_1), a72-a72.  
03-05-2021
CTNNB1-Mutant Aldosterone-Producing Adenomas With Somatic Mutations of GNA11/GNAQ Have Distinct Phenotype and Genotype
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
Journal of The Endocrine Society vol. 5 (Suppl 1), a65-a66.  
03-05-2021
In Vitro Splicing Assay Proves the Pathogenicity of Intronic Variants in MRAP
Smith C, Maharaj AV, Qamar Y, Read J, Williams J, Chan L, Marimuthu V and Metherell L
Journal of The Endocrine Society vol. 5 (Suppl 1), a85-a86.  
03-05-2021

2020

Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity
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
European Journal of Endocrinology, Oxford University Press (Oup) vol. 183 (6), 581-595.  
01-12-2020
Sphingosine-1-phosphate lyase (SGPL1) deficiency is associated with mitochondrial dysfunction
Maharaj A, Williams J, Bradshaw T, Güran T, Braslavsky D, Casas J, Chan LF, Metherell LA and Prasad R
The Journal of Steroid Biochemistry and Molecular Biology, Elsevier vol. 202 
16-07-2020
A Sphingosine-1-Phosphate Lyase Mutation Associated With Congenital Nephrotic Syndrome and Multiple Endocrinopathy
Maharaj A, Theodorou D, Banerjee I, Metherell LA, Prasad R and Wallace D
Frontiers in Pediatrics, Frontiers vol. 8 
08-04-2020
SAT-224 Recurrent Co-Driver Mutation in CTNNB1-Mutant Aldosterone-producing Adenomas (APA), Causing Reversible Hypertension in Puberty, Pregnancy or Menopause
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
Journal of The Endocrine Society vol. 4 (Suppl 1), A624-A624.  
01-04-2020
Mylk3 null C57BL/6N mice develop cardiomyopathy, whereas Nnt null C57BL/6J mice do not
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
Life Science Alliance, Life Science Alliance vol. 3 (4) 
25-03-2020
Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: The importance of early diagnosis
Kallali W, Gray E, Mehdi MZ, Lindsay R, Metherell LA, Buonocore F, Suntharalingham JP, Achermann JC and Donaldson M
European Journal of Endocrinology, Bioscientifica vol. 182 (3), K15-K24.  
01-03-2020
GHR gene transcript heterogeneity may explain phenotypic variability in GHR pseudoexon (6Ψ) patients
Chatterjee S, Cottrell E, Rose SJ, Mushtaq T, Maharaj AV, Williams J, Savage MO, Metherell LA and Storr HL
Endocrine Connections, Bioscientifica vol. -1 (aop), 211-222.  
01-02-2020

2019

Rare causes of primary adrenal insufficiency (PAI) in children from Sudan
Qamar Y, Maharaj A, Chan L, AbdulBagi S, Abdullah M and Metherell L
Endocrine Abstracts, Bioscientifica 
11-11-2019
Three novel Growth Hormone Receptor (GHR) splicing mutations causing a spectrum of Growth Hormone Insensitivity
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
Endocrine Abstracts, Bioscientifica 
11-11-2019
Novel variants in the Leucine-zipper-like transcription regulator 1 (LZTR1) gene cause Noonan syndrome phenotype by upregulation of the RAS-MAPKinase pathway
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
Endocrine Abstracts, Bioscientifica 
11-11-2019
SGPL1 deficiency leads to accumulation of sphingolipid species and downregulation of key enzymes within the steroidogenic pathway
Maharaj A, Williams J, Guran T, Braslavsky D, Casas J, Metherell L and Prasad R
Endocrine Abstracts, Bioscientifica 
11-11-2019
Twenty-five years of familial glucocorticoid deficiency: genotypic and phenotypic variability
Smith C, Maharaj A, Prasad R, Hughes C, Qamar Y, Clark A, Chan L and Metherell L
Endocrine Abstracts, Bioscientifica 
06-11-2019
Splice-site mutations in the melanocortin-2 receptor accessory protein that lead to early-onset familial glucocorticoid deficiency type 2
Qamar Y, Maharaj A, Chan L, Deeb A and Metherell L
Endocrine Abstracts, Bioscientifica 
06-11-2019
HS6ST1 insufficiency causes self-limited delayed puberty in contrast with other GnRH deficiency genes
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
, Bioscientifica 
12-09-2019
ACTH signalling and adrenal development: lessons from mouse models
Novoselova TV, King PJ, Guasti L, Metherell LA, Clark AJL and Chan LF
Endocrine Connections, Bioscientifica vol. -1 (aop), r122-r130.  
10-06-2019
Isolated glucocorticoid deficiency: Genetic causes and animal models
Maharaj A, Maudhoo A, Chan LF, Novoselova T, Prasad R, Metherell LA and Guasti L
Journal of Steroid Biochemistry and Molecular Biology vol. 189, 73-80.  
01-05-2019

2018

SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency
Settas N, Persky R, Faucz FR, Sheanon N, Voutetakis A, Lodish M, Metherell LA and Stratakis CA
The Journal of Clinical Endocrinology & Metabolism, The Endocrine Society vol. 104 (5), 1484-1490.  
03-12-2018
Missplicing due to a silent exonic substitution in the T-box transcription factor TBX19 resulting in Isolated ACTH deficiency
Maudhoo A, Maharaj A, Buonocore F, Martos-Moreno GA, Argente J, Achermann J, Chan L and Metherell L
Endocrine Abstracts, Bioscientifica 
02-11-2018
Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing
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
Journal of The Endocrine Society, The Endocrine Society vol. 3 (1), 201-221.  
30-10-2018
Genotype-phenotype correlation in patients with homozygous GHR pseudoexon (6Ψ) mutation
Chatterjee S, Rose SJ, Mushtaq T, Cottrell E, Maharaj AV, Williams J, Savage MO, Metherell LA and Storr HL
Endocrine Abstracts, Bioscientifica 
18-10-2018
Sphingosine-1-phosphate lyase (SGPL1) deficiency is associated with mitochondrial dysfunction
Prasad R, Maharaj A, Bradshaw T, Williams J, Guran T, Braslavsky D, Brugger B and Metherell L
Endocrine Abstracts, Bioscientifica 
18-10-2018
Patients with short stature and GH/IGF-1 insensitivity harbour copy number variants causing a Silver-Russell-like phenotype
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
Endocrine Abstracts, Bioscientifica 
18-10-2018
A novel GHR pseudoexon mutation causing frameshift and severe postnatal growth failure
Cottrell E, Maharaj A, Chatterjee S, Grandone A, Cirillo G, Miraglia DGE, Metherell LA and Storr HL
Endocrine Abstracts, Bioscientifica 
18-10-2018
Can novel stem cell models help unpick the pathogenesis of the Triple A syndrome?
Costa ARD, Qarin S, Bradshaw T, Watson D, Prasad R, Metherell LA, Barnes MR, Skarnes W, Chapple JP and Storr HL
Endocrine Abstracts, Bioscientifica 
18-10-2018
Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action
Storr HL, Chatterjee S, Metherell LA, Foley C, Rosenfeld RG, Backeljauw PF, Dauber A, Savage MO and Hwa V
Endocrine Reviews, The Endocrine Society vol. 40 (2), 476-505.  
27-09-2018
Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells
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
, Bioscientifica 
11-09-2018
HS6ST1 Insufficiency Causes Self-Limited Delayed Puberty in Contrast With Other GnRH Deficiency Genes
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
The Journal of Clinical Endocrinology & Metabolism, The Endocrine Society vol. 103 (9), 3420-3429.  
20-06-2018
MRAP deficiency impairs adrenal progenitor cell differentiation and gland zonation
Novoselova TV, Hussain M, King PJ, Guasti L, Metherell LA, Charalambous M, Clark AJL and Chan LF
The Faseb Journal, Wiley vol. 32 (11), 6186-6196.  
07-06-2018
Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation
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
Nature Communications, Springer Nature vol. 9 (1) 
29-05-2018
Nicotinamide Nucleotide Transhydrogenase as a novel treatment target in adrenocortical carcinoma
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
Endocrine Abstracts, Bioscientifica 
08-05-2018
Nicotinamide Nucleotide Transhydrogenase as a Novel Treatment Target in Adrenocortical Carcinoma
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
Endocrinology, The Endocrine Society vol. 159 (8), 2836-2849.  
20-04-2018
Phenotypic spectrum and responses to recombinant human IGF1 (rhIGF1) therapy in patients with homozygous intronic pseudoexon growth hormone receptor mutation
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
European Journal of Endocrinology, Oxford University Press (Oup) vol. 178 (5), 481-489.  
02-03-2018
Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells
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
Cell Reports, Elsevier vol. 22 (5), 1236-1249.  
01-01-2018

2017

An unusual presentation of congenital lipoid adrenal hyperplasia and novel STAR mutation in two siblings
Andrews E, Taylor C, Metherell L, Buonocore F, Achermann J and Maharaj A
Endocrine Abstracts, Bioscientifica 
30-10-2017
Novel evidence implies that ALADIN, the triple A syndrome gene product is involved in mitochondrial physiology
Da CAR, Meimaridou E, Prasad R, Metherell LA, Chapple JP and Storr HL
Endocrine Abstracts, Bioscientifica 
30-10-2017
Phenotypic spectrum and response to recombinant human IGF1(rhIGF1) therapy in patients with homozygous intronic pseudoexon (6Ψ)GH receptor mutations
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
Endocrine Abstracts, Bioscientifica 
30-10-2017
Antioxidant pathway targeting as a therapeutic approach in adrenocortical carcinoma
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
Endocrine Abstracts, Bioscientifica 
20-10-2017
Predicted benign and silent SNPs in CYP11A1 cause primary adrenal insufficiency through missplicing
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
Endocrine Abstracts, Bioscientifica 
20-10-2017
NNT is a key regulator of adrenal redox homeostasis and steroidogenesis in male mice
Meimaridou E, Goldsworthy M, Chortis V, Fragouli E, Foster PA, Arlt W, Cox R and Metherell LA
Journal of Endocrinology, Bioscientifica vol. 236 (1), 13-28.  
18-10-2017
Whole-exome sequencing gives additional benefits compared to candidate gene sequencing in the molecular diagnosis of children with growth hormone or IGF-1 insensitivity
Shapiro L, Chatterjee S, Ramadan DG, Davies KM, Savage MO, Metherell LA and Storr HL
European Journal of Endocrinology, Oxford University Press (Oup) vol. 177 (6), 485-501.  
04-09-2017
In-frame seven amino-acid duplication in AIP arose over the last 3000 years, disrupts protein interaction and stability and is associated with gigantism.
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
Eur J Endocrinol vol. 177 (3), 257-266.  
20-06-2017
Young Thai sisters with growth hormone insensitivity or Laron syndrome
Wacharasindhu S, Panamonta O, Shapiro L, Metherell LA, Savage MO and Storr HL
Asian Biomedicine vol. 11 (2), 167-170.  
01-04-2017
Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I Deficiency.
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
J Endocr Soc, Oxford University Press vol. 1 (4), 345-358.  
08-03-2017
Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome
METHERELL LA, Prasad R, Storr HL, Guasti L, Maharaj A, Meimaridou E and Hadjidemetriou I
Journal of Clinical Investigation, American Society For Clinical Investigation 
04-02-2017

2016

Three‐Dimensional Model of Human Nicotinamide Nucleotide Transhydrogenase (NNT) and Sequence‐Structure Analysis of its Disease‐Causing Variations
Metherell LA, Guerra‐Assunção JA, Sternberg MJ and David A
Human Mutation, Hindawi vol. 37 (10), 1074-1084.  
08-08-2016
IGSF10 mutations dysregulate gonadotropin‐releasing hormone neuronal migration resulting in delayed puberty
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
Embo Molecular Medicine, Wiley vol. 8 (6), 626-42.  
13-04-2016

2015

Primary Adrenocortical Insufficiency Case Series: Genetic Etiologies More Common than Expected
Tsai SL, Green J, Metherell LA, Curtis F, Fernandez B, Healey A and Curtis J
Hormone Research in Paediatrics, Karger Publishers vol. 85 (1), 35-42.  
10-12-2015
Dominant negative STAT5B variants in two families with mild GH insensitivity and eczema
Pease-Gevers E, Klammt J, Andrew S, Kowalczyk J, Metherell L, Neumann D, Dattani M and Hwa V
Endocrine Abstracts, Bioscientifica 
04-11-2015
Genetic characterisation of children with short stature and GH or IGF1 insensitivity by single gene and whole exome sequencing
Shapiro L, Savage M, Metherell L and Storr H
Endocrine Abstracts, Bioscientifica 
04-11-2015
Mutations in HS6ST1 cause self-limited delayed puberty (DP) in addition to idiopathic hypogonadotropic hypogonadism (IHH)
Howard S, Poliandre A, Storr HL, Metherell LA, Cabrera C, Warren H, Barnes M, Wehkalampi K, Guasti L and Dunkel L
Endocrine Abstracts, Bioscientifica 
04-11-2015
Mutations in IGSF10 cause self-limited delayed puberty
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
Endocrine Abstracts, Bioscientifica 
04-11-2015
Molecular diagnosis of patients with adrenal insufficiency using a targeted custom Haloplex next-generation sequencing panel
Buonocore F, Chan L, Achermann J and Metherell L
Endocrine Abstracts, Bioscientifica 
12-10-2015
RNA-sequencing of mouse adrenals reveals the pathways perturbed by loss of nicotinamide nucleotide transhydrogenase
Meimaridou E, Goldsworthy M, Chortis V, Foster P, Arlt W, Cox R and Metherell L
Endocrine Abstracts, Bioscientifica 
12-10-2015
Nicotinamide nucleotide transhydrogenase (NNT) as a novel molecular target in adrenocortical carcinoma - impact of NNT knockdown on adrenocortical cell proliferation, redox balance and steroidogenesis
Chortis V, Taylor A, Doig C, Meimaridou E, Metherell L, Arlt W and Foster P
Endocrine Abstracts, Bioscientifica 
12-10-2015
Mutations in HS6ST1 are causal in self-limited delayed puberty as well as idiopathic hypogonadotropic hypogonadism
Howard S, Poliandri A, Storr H, Metherell L, Cabrera C, Barnes M, Warren H, Wehkalampi K, Guasti L and Dunkel L
Endocrine Abstracts, Bioscientifica 
12-10-2015
Mutations in IGSF10 cause self-limited delayed puberty, via disturbance of GnRH neuronal migration
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
Endocrine Abstracts, Bioscientifica 
12-10-2015
Whole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in Children
Chan LF, Campbell DC, Novoselova TV, Clark AJL and Metherell LA
Frontiers in Endocrinology, Frontiers vol. 6 
05-08-2015
Heterogeneity of the growth phenotype and birth size in acid-labile subunit (ALS) deficiency.
Storr HL, Prasad R, Temple IK, Metherell LA, Savage MO and Walker JM
J Endocrinol Invest vol. 38 (4), 407-412.  
01-04-2015
Genetic characterisation of a cohort of children clinically labelled as GH or IGF1 insensitive: diagnostic value of serum IGF1 and height at presentation.
Storr HL, Dunkel L, Kowalczyk J, Savage MO and Metherell LA
Eur J Endocrinol vol. 172 (2), 151-161.  
01-02-2015
NNT Pseudoexon Activation as a Novel Mechanism for Disease in Two Siblings With Familial Glucocorticoid Deficiency
Novoselova TV, Rath SR, Carpenter K, Pachter N, Dickinson JE, Price G, Chan LF, Choong CS and Metherell LA
Journal of Clinical Endocrinology & Metabolism, Endocrine Society vol. 100 (2), E350-E354.  
01-02-2015

2014

Molecular Genetics of Inherited Glucocorticoid Deficiency
Meimaridou E, Kowalczyk J and Metherell LA
In Encyclopedia of Life Sciences, Wiley 
15-10-2014
A heterozygous STAT5B variant in a family with short stature and transient hyperprolactinaemia: a possible dominant negative effect
Pease-Gevers E, Kowalczyk J, Storr H, Metherell L and Dattani M
Endocrine Abstracts, Bioscientifica 
14-10-2014
cDNA analysis reveals NNT pseudoexon activation in two siblings with familial glucocorticoid deficiency
Chan L, Novoselova T, Rath S, Carpenter K, Pachter N, Price G, Dickinson J, Choong C and Metherell L
Endocrine Abstracts, Bioscientifica 
14-10-2014
Varied clinical presentations of six patients with mutations in CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450scc
Novoselova T, Spoudeas H, Huebner A, Cheetham T, Chan L and Metherell L
Endocrine Abstracts, Bioscientifica 
14-10-2014
Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD).
Prasad R, Chan LF, Hughes CR, Kaski JP, Kowalczyk JC, Savage MO, Peters CJ, Nathwani N, Clark AJL, Storr HL and Metherell LA
J Clin Endocrinol Metab vol. 99 (8), E1556-E1563.  
01-08-2014
Oxidative stress and adrenocortical insufficiency.
Prasad R, Kowalczyk JC, Meimaridou E, Storr HL and Metherell LA
J Endocrinol vol. 221 (3), R63-R73.  
01-06-2014
Mitochondrial thiol systems are important players in antioxidant defence for the human adrenal cortex
Meimaridou E, Prasad R, Kowalczyk J, Clark A, Storr H and Metherell L
Endocrine Abstracts, Bioscientifica 
17-04-2014
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.
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
J Clin Endocrinol Metab vol. 99 (4), E703-E712.  
01-04-2014
A novel gene affecting the timing of puberty
Howard S, Guasti L, Storr H, Metherell L, Cariboni A, Barnes M, Cabrera C, Wehkalampi K and Dunkel L
Endocrine Abstracts, Bioscientifica 
01-03-2014
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
Poukoulidou T, Kowalczyk J, Metherell L, De Schepper J and Maes M
Hormone Research in Paediatrics vol. 81 (6), 422-427.  
01-01-2014

2013

Deficiency of ALADIN impairs redox homeostasis in human adrenal cells and inhibits steroidogenesis.
Prasad R, Metherell LA, Clark AJ and Storr HL
Endocrinology vol. 154 (9), 3209-3218.  
01-09-2013
PP43 Genome sequencing reveals mitochondrial thiol systems are essential for antioxidant defence in human adrenal glands
Meimaridou E, Prasad R, Kowalczyk JC, Clark AJL, Storr HL and Metherell LA
Free Radical Biology and Medicine, Elsevier vol. 65 
01-09-2013
Familial glucocorticoid deficiency: New genes and mechanisms.
Meimaridou E, Hughes CR, Kowalczyk J, Guasti L, Chapple JP, King PJ, Chan LF, Clark AJL and Metherell LA
Mol Cell Endocrinol vol. 371 (1-2), 195-200.  
22-05-2013
Familial glucocorticoid deficiency: New genes and mechanisms
Meimaridou E, Hughes CR, Kowalczyk J, Guasti L, Chapple JP, King PJ, Chan LF, Clark AJL and Metherell LA
Molecular and Cellular Endocrinology vol. 371 (1-2), 195-200.  
22-05-2013
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
Howard S, Barnes M, Storr H, Wehkalampi K, Metherell L and Dunkel L
Endocrine Abstracts, Bioscientifica, 1-1.  
01-03-2013
A mutation in thioredoxin reductase 2 (TXNRD2) is associated with a predominantly adrenal phenotype in humans
Prasad R, Hughes C, Chan L, Peters C, Nathwani N, Clark A, Storr H and Metherell L
Endocrine Abstracts, Bioscientifica, 1-1.  
01-03-2013
ACTH resistance: genes and mechanisms.
Meimaridou E, Hughes CR, Kowalczyk J, Chan LF, Clark AJL and Metherell LA
Endocr Dev vol. 24, 57-66.  
01-01-2013
Familial glucocorticoid deficiency: a diagnostic challenge during acute illness
Habeb AM, Hughes CR, Al-Arabi R, Al-Muhamadi A, Clark AJL and Metherell LA
European Journal of Pediatrics vol. 172 (10), 1407-1410.  
01-01-2013
Adrenocortical development, maintenance, and disease.
Yates R, Katugampola H, Cavlan D, Cogger K, Meimaridou E, Hughes C, Metherell L, Guasti L and King P
Curr Top Dev Biol vol. 106, 239-312.  
01-01-2013

2012

Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency.
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
Nat Genet vol. 44 (7), 740-742.  
27-05-2012
An atypical case of familial glucocorticoid deficiency without pigmentation caused by coexistent homozygous mutations in MC2R (T152K) and MC1R (R160W).
Turan S, Hughes C, Atay Z, Guran T, Haliloglu B, Clark AJL, Bereket A and Metherell LA
J Clin Endocrinol Metab vol. 97 (5), E771-E774.  
01-05-2012
MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans
Hughes CR, Guasti L, Meimaridou E, Chuang C-H, Schimenti JC, King PJ, Costigan C, Clark AJL and Metherell LA
Journal of Clinical Investigation vol. 122 (3), 814-820.  
01-01-2012

2011

Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory protein.
Jain V, Metherell LA, David A, Sharma R, Sharma PK, Clark AJL and Chan LF
Eur J Endocrinol vol. 165 (6), 987-991.  
01-12-2011
Severe cortisol deficiency associated with reversible growth hormone deficiency in two infants: what is the link?
McEachern R, Drouin J, Metherell L, Huot C, Van Vliet G and Deal C
J Clin Endocrinol Metab vol. 96 (9), 2670-2674.  
01-09-2011
Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity.
David A, Hwa V, Metherell LA, Netchine I, Camacho-Hübner C, Clark AJL, Rosenfeld RG and Savage MO
Endocr Rev vol. 32 (4), 472-497.  
01-08-2011
Genetic defects of the human somatotrophic axis
Metherell LA, STORR HL and Savage MO
In Oxford Textbook of Endocrinology and Diabetes, Oxford University Press, Editors: Wass JAH and Stewart PM. 
28-07-2011
Familial glucocorticoid deficiency
Hughes C, Metherell L and Clark AJL
In Oxford Textbook of Endocrinology and Diabetes, Oxford University Press (Oup) 860-864.  
01-07-2011
Effects of melanocortins on adrenal gland physiology
Chan LF, Metherell LA and Clark AJL
Eur J Pharmacol vol. 660 (1), 171-180.  
11-06-2011
Genetic Defects in the Growth Hormone-IGF-I Axis Causing Growth Hormone Insensitivity and Impaired Linear Growth.
Savage MO, Hwa V, David A, Rosenfeld RG and Metherell LA
Front Endocrinol (Lausanne) vol. 2 
01-01-2011

2010

Missense mutations in the melanocortin 2 receptor accessory protein that lead to late onset familial glucocorticoid deficiency type 2.
Hughes CR, Chung TT, Habeb AM, Kelestimur F, Clark AJL and Metherell LA
J Clin Endocrinol Metab vol. 95 (7), 3497-3501.  
01-07-2010
Repair of aberrant splicing in growth hormone receptor by antisense oligonucleotides targeting the splice sites of a pseudoexon.
David A, Srirangalingam U, Metherell LA, Khoo B and Clark AJL
J Clin Endocrinol Metab vol. 95 (7), 3542-3546.  
01-07-2010
d3-GHR genotype does not explain heterogeneity in GH responsiveness in hypopituitary adults.
Moyes VJ, Walker DM, Owusu-Antwi S, Maher KT, Metherell L, Akker SA, Monson JP, Clark AJL and Drake WM
Clin Endocrinol (Oxf) vol. 72 (6), 807-813.  
01-06-2010
Repair of Aberrant Splicing in Growth Hormone Receptor by Antisense Oligonucleotides Targeting the Splice Sites of a Pseudoexon
David A, Srirangalingam U, Metherell LA, Khoo B and Clark AJL
Endocrinology, The Endocrine Society vol. 24 (6), 1305-1305.  
01-06-2010
FUNCTIONAL CHARACTERISATION OF A MISSENSE MUTATION OF MRAP LEADING TO FAMILIAL GLUCOCORTICOID DEFICIENCY
Hughes C, Chung TT, Clark AJ and Metherell L
Irish J Med Sci vol. 179, S263-S263.  
01-06-2010
Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2.
Chung T-TLL, Chan LF, Metherell LA and Clark AJL
Clin Endocrinol (Oxf) vol. 72 (5), 589-594.  
01-05-2010
Missense Mutations in the Melanocortin 2 Receptor Accessory Protein That Lead to Late Onset Familial Glucocorticoid Deficiency Type 2
Hughes CR, Chung TT, Habeb AM, Kelestimur F, Clark AJL and Metherell LA
Endocrinology, The Endocrine Society vol. 151 (6), 2957-2958.  
28-04-2010
Isolated Addison's disease is unlikely to be caused by mutations in MC2R, MRAP or STAR, three genes responsible for familial glucocorticoid deficiency.
Dias RP, Chan LF, Metherell LA, Pearce SHS and Clark AJL
Eur J Endocrinol vol. 162 (2), 357-359.  
01-02-2010
Identification and characterisation of a novel GHR defect disrupting the polypyrimidine tract and resulting in GH insensitivity.
David A, Miraki-Moud F, Shaw NJ, Savage MO, Clark AJL and Metherell LA
Eur J Endocrinol vol. 162 (1), 37-42.  
01-01-2010
Acid-labile subunit deficiency and growth failure: description of two novel cases.
David A, Rose SJ, Miraki-Moud F, Metherell LA, Savage MO, Clark AJL and Camacho-Hübner C
Horm Res Paediatr vol. 73 (5), 328-334.  
01-01-2010
Familial Isolated Primary Pigmented Nodular Adrenocortical Disease Associated with a Novel Low Penetrance PRKAR1A Gene Splice Site Mutation
Storr HL, Metherell LA, Dias R, Savage MO, Rasmussen AK, Clark AJL and Main KM
Horm Res Paediat vol. 73 (2), 115-119.  
01-01-2010
Familial isolated primary pigmented nodular adrenocortical disease associated with a novel low penetrance PRKAR1A gene splice site mutation.
Storr HL, Metherell LA, Dias R, Savage MO, Rasmussen AK, Clark AJL and Main KM
Horm Res Paediatr vol. 73 (2), 115-119.  
01-01-2010

2009

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency.
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
J Clin Endocrinol Metab vol. 94 (10), 3865-3871.  
01-10-2009
Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiency.
Chan LF, Metherell LA, Krude H, Ball C, O'Riordan SMP, Costigan C, Lynch SA, Savage MO, Cavarzere P and Clark AJL
Clin Endocrinol (Oxf) vol. 71 (2), 171-175.  
01-08-2009
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))
Milward A, Metherell L, Maamra M, Barahona MJ, Wilkinson IR, Camacho-Hübner C, Savage MO, Bidlingmaier CM, Clark AJL, Ross RJM and Webb SM
Journal of Clinical Endocrinology and Metabolism vol. 94 (7) 
01-07-2009
MRAP and MRAP2 are bidirectional regulators of the melanocortin receptor family.
Chan LF, Webb TR, Chung T-T, Meimaridou E, Cooray SN, Guasti L, Chapple JP, Egertová M, Elphick MR, Cheetham ME, Metherell LA and Clark AJL
Proc Natl Acad Sci U S A vol. 106 (15), 6146-6151.  
14-04-2009
The genetics of familial glucocorticoid deficiency.
Clark AJL, Chan LF, Chung T-T and Metherell LA
Best Pract Res Clin Endocrinol Metab vol. 23 (2), 159-165.  
01-04-2009
Functional consequence of a novel Y129C mutation in a patient with two contradictory melanocortin-2-receptor mutations.
Chan LF, Chung T-T, Massoud AF, Metherell LA and Clark AJL
Eur J Endocrinol vol. 160 (4), 705-710.  
01-04-2009
Accessory proteins are vital for the functional expression of certain G protein-coupled receptors.
Cooray SN, Chan L, Webb TR, Metherell L and Clark AJL
Mol Cell Endocrinol vol. 300 (1-2), 17-24.  
05-03-2009
Phenotypic aspects of growth hormone- and IGF-I-resistant syndromes.
Savage MO, David A, Camacho-Hubner C, Metherell LA and Clark AJL
Endocr Dev vol. 14, 143-150.  
01-01-2009
Genotype:phenotype relationships in familial glucocorticoid deficiency types 1 and 2
Metherell LA, Chung TT, Chan LF and Clark AJL
Horm Res vol. 72, 211-211.  
01-01-2009
A novel splice mutation (IVSds3+3insTA) in the melanocortin 2 receptor accessory protein that leads to skipping of exon 3
Chan LF, David A, Jain V, Clark AJL and Metherell LA
Horm Res vol. 72, 70-70.  
01-01-2009
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)
Milward A, Metherell L, Maamra M, Barahona MJ, Wilkinson IR, Camacho-Huebner C, Savage MO, Bidlingmaier CM, Clark AJL, Ross RJM and Webb SM
Journal of Clinical Endocrinology & Metabolism vol. 94 (7), 2674-2674.  
01-01-2009
Functional characterisation of a missense mutation (p.Y59D) of MRAP which leads to familial glucocorticoid deficiency type 2
Hughes CR, Chung TT, Habeb AM, Clark AJ and Metherell LA
Horm Res vol. 72, 42-42.  
01-01-2009

2008

The majority of adrenocorticotropin receptor (melanocortin 2 receptor) mutations found in familial glucocorticoid deficiency type 1 lead to defective trafficking of the receptor to the cell surface.
Chung TT, Webb TR, Chan LF, Cooray SN, Metherell LA, King PJ, Chapple JP and Clark AJL
J Clin Endocrinol Metab vol. 93 (12), 4948-4954.  
01-12-2008
OR9,3 Acid-labile subunit gene mutations: clinical, biochemical and molecular study in two unrelated families
Camacho-Hübner C, David A, Rose S, Metherell L, Clark A and Savage MO
Growth Hormone & Igf Research, Elsevier vol. 18 
01-09-2008
Familial glucocorticoid deficiency: advances in the molecular understanding of ACTH action.
Chan LF, Clark AJL and Metherell LA
Horm Res vol. 69 (2), 75-82.  
01-01-2008
Adrenocorticotropin resistance syndromes.
Cooray SN, Chan L, Metherell L, Storr H and Clark AJL
Endocr Dev vol. 13, 99-116.  
01-01-2008
Acid-labile subunit gene mutations: Clinical, biochemical and molecular study in two unrelated families
David A, Rose S, Miraki-Moud F, Metherell L, Clark A, Savage M and Camacho-Hubner C
Horm Res vol. 70, 31-31.  
01-01-2008
Functional consequence of two opposing MC2R mutations in a child with severe FGD phenotype
Chan L, Chung TT, Massoud A, Metherell L and Clark A
Horm Res vol. 70, 23-23.  
01-01-2008

2007

The TPIT gene mutation M86R associated with isolated adrenocorticotropin deficiency interferes with protein: Protein interactions
Vallette-Kasic S, Couture C, Balsalobre A, Gauthier Y, Metherell L, Dattani M and Drouin J
J Clin Endocr Metab vol. 92 (10), 3991-3999.  
01-10-2007
Clinical and biological phenotype of a patient with familial glucocorticoid deficiency type 2 caused by a mutation of melanocortin 2 receptor accessory protein.
Rumié H, Metherell LA, Clark AJL, Beauloye V and Maes M
Eur J Endocrinol vol. 157 (4), 539-542.  
01-10-2007
Idiopathic short stature: will genetics influence the choice between GH and IGF-I therapy?
Savage MO, Camacho-Hübner C, David A, Metherell LA, Hwa V, Rosenfeld RG and Clark AJL
Eur J Endocrinol vol. 157 Suppl 1, S33-S37.  
01-08-2007
Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes
Keegan CE, Hutz JE, Krause AS, Koehler K, Metherell LA, Boikos S, Stergiopoulos S, Clark AJL, Stratakis CA, Huebner A and Hammer GD
Clin Endocrinol vol. 67 (2), 168-174.  
01-08-2007
An intronic growth hormone receptor mutation causing activation of a pseudoexon is associated with a broad spectrum of growth hormone insensitivity phenotypes.
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
J Clin Endocrinol Metab vol. 92 (2), 655-659.  
01-02-2007
Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia.
Lin L, Hindmarsh PC, Metherell LA, Alzyoud M, Al-Ali M, Brain CE, Clark AJL, Dattani MT and Achermann JC
Clin Endocrinol (Oxf) vol. 66 (2), 205-210.  
01-02-2007
Growth hormone insensitivity and severe short stature in siblings: a novel mutation at the exon 13-intron 13 junction of the STAT5b gene.
Hwa V, Camacho-Hübner C, Little BM, David A, Metherell LA, El-Khatib N, Savage MO and Rosenfeld RG
Horm Res vol. 68 (5), 218-224.  
01-01-2007

2006

The genetics of ACTH resistance syndromes.
Metherell LA, Chan LF and Clark AJL
Best Pract Res Clin Endocrinol Metab vol. 20 (4), 547-560.  
01-12-2006
Endocrine assessment, molecular characterization and treatment of growth hormone insensitivity disorders.
Savage MO, Attie KM, David A, Metherell LA, Clark AJL and Camacho-Hübner C
Nat Clin Pract Endocrinol Metab vol. 2 (7), 395-407.  
01-07-2006
Mechanisms of disease: the adrenocorticotropin receptor and disease.
Clark AJL and Metherell LA
Nat Clin Pract Endocrinol Metab vol. 2 (5), 282-290.  
01-05-2006
A 36 residues insertion in the dimerization domain of the growth hormone receptor results in defective trafficking rather than impaired signaling
Maamra M, Milward A, Esfahani HZ, Abbott LP, Metherell LA, Savage MO, Clark AJL and Ross RJM
J Endocrinol vol. 188 (2), 251-261.  
01-02-2006

2005

Inherited ACTH insensitivity illuminates the mechanisms of ACTH action.
Clark AJL, Metherell LA, Cheetham ME and Huebner A
Trends Endocrinol Metab vol. 16 (10), 451-457.  
01-12-2005
Diagnostic and therapeutic advances in growth hormone insensitivity
David A, Metherell LA, Clark AJL, Camacho-Hubner C and Savage MO
Endocrin Metab Clin vol. 34 (3), 581-+.  
01-09-2005
Novel growth hormone receptor mutation in a Chinese patient with Laron syndrome
Hui HNT, Metherell LA, Ng KL, Savage MO, Camacho-Hubner C and Clark AJL
J Pediatr Endocr Met vol. 18 (2), 209-213.  
01-02-2005
Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2.
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
Nat Genet vol. 37 (2), 166-170.  
01-02-2005
Genetics of ACTH insensitivity syndromes
CLARK AJL, Metherell LA, Huebner A, Begeot M and Naville D
Annals of Endocrinology vol. 66, 247-249.  
01-01-2005

2004

TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency.
Metherell LA, Savage MO, Dattani M, Walker J, Clayton PE, Farooqi IS and Clark AJL
Eur J Endocrinol vol. 151 (4), 463-465.  
01-10-2004
Growth hormone (GH) insensitivity syndrome due to a GH receptor truncated after box1, resulting in isolated failure of STAT 5 signal transduction
Milward A, Metherell L, Maamra M, Barahona MJ, Wilkinson IR, Camacho-Hubner C, Savage MO, Bidlingmaier CM, Clark AJL, Ross RJM and Webb SM
J Clin Endocr Metab vol. 89 (3), 1259-1266.  
01-03-2004

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.
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
Clin Endocrinol (Oxf) vol. 59 (3), 328-338.  
01-09-2003
No Evidence for a Role for Mutations in the cAMP-Dependent Protein Kinase a Regulatory Subunit in Hyperfunctioning Adrenocortical Adenomas
Swords F, Metherell L, Arola J and Clark A
Clinical Science, Portland Press vol. 104 (s49), 20p-20p.  
01-04-2003

2002

Spontaneous growth hormone secretory characteristics in children with partial growth hormone insensitivity
Bjarnason R, Banerjee K, Rose SJ, Rosberg S, Metherell L, Clark AJL, Albertsson-Wikland K and Savage MO
Clin Endocrinol vol. 57 (3), 357-361.  
01-09-2002

2001

Pseudoexon activation as a novel mechanism for disease resulting in atypical growth-hormone insensitivity.
Metherell LA, Akker SA, Munroe PB, Rose SJ, Caulfield M, Savage MO, Chew SL and Clark AJ
Am J Hum Genet vol. 69 (3), 641-646.  
01-09-2001
Detection of rpoB mutations in Mycobacterium tuberculosis by biprobe analysis
Edwards KJ, Metherell LA, Yates M and Saunders NA
J Clin Microbiol vol. 39 (9), 3350-3352.  
01-09-2001
The molecular pathogenesis of ACTH insensitivity syndromes.
Clark AJ, Metherell L, Swords FM and Elias LL
Ann Endocrinol (Paris) vol. 62 (2), 207-211.  
01-04-2001
The molecular pathogenesis of ACTH insensitivity syndromes.
Clark AJ, Metherell L, Swords FM and Elias LL
Annales D'Endocrinologie vol. 62 (2), 207-211.  
01-01-2001

2000

Tall stature in familial glucocorticoid deficiency
Elias LLK, Huebner A, Metherell LA, Canas A, Warne GL, Bitti MLM, Cianfarani S, Clayton PE, Savage MO and Clark AJL
Clinical Endocrinology, Wiley vol. 53 (4), 423-430.  
01-10-2000

1999

NOSOCOMIAL ACQUISITION OF BURKHOLDERIA GLADIOLI IN PATIENTS WITH CYSTIC FIBROSIS
CLODE FE, METHERELL LA and PITT TL
American Journal of Respiratory and Critical Care Medicine, American Thoracic Society vol. 160 (1), 374-375.  
01-07-1999
Predictive Fluorescent Amplified-Fragment Length Polymorphism Analysis of Escherichia coli: High-Resolution Typing Method with Phylogenetic Significance
Arnold C, Metherell L, Willshaw G, Maggs A and Stanley J
Journal of Clinical Microbiology, American Society For Microbiology vol. 37 (5), 1274-1279.  
01-05-1999
PCR–Enzyme-Linked Immunosorbent Assay for Detection and Identification of Campylobacter Species: Application to Isolates and Stool Samples
Metherell LA, Logan JMJ and Stanley J
Journal of Clinical Microbiology, American Society For Microbiology vol. 37 (2), 433-435.  
01-02-1999
Predictive modelling of fluorescent AFLP: a new approach to the molecular epidemiology of E. coli
Arnold C, Metherell L, Clewley JP and Stanley J
Research in Microbiology, Elsevier vol. 150 (1), 33-44.  
01-01-1999

1997

PCR-enzyme-linked immunosorbent assay and sequencing as an alternative to serology for M-antigen typing of Streptococcus pyogenes
Saunders NA, Hallas G, Gaworzewska ET, Metherell L, Efstratiou A, Hookey JV and George RC
Journal of Clinical Microbiology, American Society For Microbiology vol. 35 (10), 2689-2691.  
01-10-1997
Investigation of an outbreak of multidrug resistant tuberculosis among renal patients using rpo B genes sequencing and IS6110 inverse PCR
Saunders NA, Metherell L and Patel S
Journal of Infection, Elsevier vol. 35 (2), 129-133.  
01-09-1997
Rapid, sensitive, microbial detection by gene amplification using restriction endonuclease target sequences
Metherell LA, Hurst C and Bruce IJ
Molecular and Cellular Probes, Elsevier vol. 11 (4), 297-308.  
01-08-1997

Grants of specific relevance to Predictive in vitro Models

solid heart iconGrants of specific relevance to Predictive in vitro Models
bullet iconInvestigating the mechanism of adrenal insufficiency in individuals with porphyria
Lou Metherell and Li Chan
£331,824 MRC Medical Research Council
14-02-2023 - 13-02-2026
bullet iconThe role of MYLK3 in cardiac signalling and development
Lou Metherell, Jack Williams, Andrew Tinker and Pedro Rodriguez Cutillas
£304,103 BHF British Heart Foundation
01-02-2022 - 30-07-2025

bullet iconAdrenal insufficiency in association with mutations in genes causing porphyria
Lou Metherell and Li Chan
£248,292 Barts and the London Charity
01-10-2022 - 31-03-2025
bullet iconImproved genetic diagnosis of primary adrenal insufficiency
Lou Metherell, Helen Storr and Li Chan
£525,022 Barts and the London Charity
01-08-2018 - 31-01-2023