Prof Lou Metherell
Professor of Endocrine Genetics
Centre for Endocrinology, William Harvey Research Institute
Faculty of Medicine and Dentistry, Queen Mary University of London
Faculty of Medicine and Dentistry, Queen Mary University of London
Research
Genetics, Adrenal insufficiency, Endocrinology, Cardiomyopathy, Growth retardation, Porphyria
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 Models2024
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 (2024). 8482 Genetic Aetiology Of Primary Adrenal Insufficiency In Sudan. The Endocrine Society Journal of the Endocrine Society vol. 8, (Supplement_1) 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. 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 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 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) 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) 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 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 
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) 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. 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) 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) Corkery-Hayward M and Metherell LA (2023). Adrenal Dysfunction in Mitochondrial Diseases. MDPI International Journal of Molecular Sciences vol. 24, (2) 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) 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. 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 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 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 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 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 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. 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) 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 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 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, 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) 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) 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. 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 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 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 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. 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. 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 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 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) 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 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 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. 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) 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. 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. 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. 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. 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. 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, 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, 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. 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) 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. 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. 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 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 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 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 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 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 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 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. 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. 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. 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 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. 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 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 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 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 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 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. 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 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. 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. 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) 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 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. 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. 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. 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 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 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 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 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 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. 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. 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. 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. 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. 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 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. 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. 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. 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 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 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 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 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 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 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 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 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 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, 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. 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. 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. 2014
Meimaridou E, Kowalczyk J and Metherell LA (2014). Molecular Genetics of Inherited Glucocorticoid Deficiency. Encyclopedia of Life Sciences Wiley 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 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 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 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. Prasad R, Kowalczyk JC, Meimaridou E, Storr HL and Metherell LA (2014). Oxidative stress and adrenocortical insufficiency. J Endocrinol vol. 221, (3) R63-R73. 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 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. 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 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. 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. 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, 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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 Hughes C, Metherell L and Clark AJL (2011). Familial glucocorticoid deficiency. Oxford Textbook of Endocrinology and Diabetes Oxford University Press (OUP) Chan LF, Metherell LA and Clark AJL (2011). Effects of melanocortins on adrenal gland physiology. EUR J PHARMACOL vol. 660, (1) 171-180. 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, 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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, 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. Cooray SN, Chan L, Metherell L, Storr H and Clark AJL (2008). Adrenocorticotropin resistance syndromes. Endocr Dev vol. 13, 99-116. 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. 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. 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. 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. 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. 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. 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. 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. 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. Clark AJL and Metherell LA (2006). Mechanisms of disease: the adrenocorticotropin receptor and disease. Nat Clin Pract Endocrinol Metab vol. 2, (5) 282-290. 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. 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. 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-+. 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. 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. CLARK AJL, Metherell LA, Huebner A, Begeot M and Naville D (2005). Genetics of ACTH insensitivity syndromes. Annals of Endocrinology vol. 66, 247-249. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. Grants of specific relevance to Predictive in vitro Models
Investigating the mechanism of adrenal insufficiency in individuals with porphyriaLouise Metherell and Li Chan
£331,824 MRC Medical Research Council (14-02-2023 - 13-02-2026)
Adrenal insufficiency in association with mutations in genes causing porphyriaLouise Metherell and Li Chan
£248,292 Barts and the London Charity (01-10-2022 - 31-03-2025)
The role of MYLK3 in cardiac signalling and developmentLouise Metherell, Jack Williams, Andrew Tinker and Pedro Rodriguez Cutillas
£304,103 BHF British Heart Foundation (01-02-2022 - 30-07-2025)