Professor Lou MetherellProfessor of Endocrine GeneticsCentre: EndocrinologyEmail: l.a.metherell@qmul.ac.ukTelephone: +44(0) 20 7882 2148Twitter: @LouMetherellProfileResearchPublicationsSponsorsCollaboratorsProfileORCID iD: 0000-0002-0530-3524 Lou Metherell obtained a BSc in Biology from the University of Manchester BSc in 1985. During her undergraduate studies she developed an interest in genetics which led her to undertake a postgraduate diploma in Human Genetics at the University of Aberdeen. After a brief period in industry she returned to science and was awarded her PhD from the University of Greenwich in 1999. She joined the Centre for Endocrinology at WHRI in 1998, where her research has focused on the genetics of endocrine disease, particularly disorders of adrenal insufficiency. In 2008, she was awarded a New Investigator Research Grant from the Medical Research Council. She was appointed Reader in 2012 and Professor of Endocrine Genetics in 2017.ResearchGroup members Jack Williams (Postdoc), Chris Smith (Postdoc), Avi Maharaj (PhD student), Dominika Grzesik (PhD student). Familial Glucocorticoid Deficiency (FGD) Through linkage mapping and next-generation sequencing of our cohort of FGD patients, our group has established that diseases of ACTH-resistance are genetically heterogeneous, involving mutations in a diverse range of genes that promote adrenocortical development and glucocorticoid production (see cartoons). Our most recent advances in understanding the pathogenesis of these life-threatening conditions include: 1) identifying syndromic forms of primary adrenal insufficiency caused by mutations in a) MCM4, encoding a component of the DNA replication machinery and b) SGPL1, encoding a degradative enzyme of sphingolipid metabolism; 2) demonstrating that partial loss-of-function mutations in STAR and CYP11A1 cause attenuated disease and 3) establishing that mutations in four redox genes (e.g. NNT, TXNRD2, PRDX3, GPX1) produce a glucocorticoid deficiency phenotype indistinguishable from that resulting from ACTH-resistance receptor pathway defects, for example, loss of MC2R and MRAP activity. Growth hormone insensitivity (GHI) The Centre for Endocrinology has a long history in researching growth disorders and now acts as an international diagnostic sequencing service for GHI cases, led by Helen Storr. Together we have uncovered causal mutations in many components of the GH-IGF1 signalling pathway, including a novel mechanism of pseudoexon activation in a case of atypical GHI.Publications Smith CJ, Abdullah MA, Hassan SS et al. (2024). 8482 Genetic Aetiology Of Primary Adrenal Insufficiency In Sudan. nameOfConference DOI: 10.1210/jendso/bvae163.193 QMRO: qmroHref Kidd E, Meimaridou E, Williams J et al. (2024). Choice of gDNA isolation method has a significant impact on average murine Telomere Length estimates. nameOfConference DOI: 10.1080/10826068.2023.2288572 QMRO: qmroHref Patjamontri S, Lucas-Herald AK, McMillan M et al. (2024). Thioredoxin Reductase 2 Variant as a Cause of Micropenis, Undescended Testis, and Selective Glucocorticoid Deficiency. nameOfConference DOI: 10.1159/000535528 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/85127 Smith C, Al-Salihi A, Janecke A et al. (publicationYear). Adrenal insufficiency can be associated with biallelic mutations in porphyria genes. nameOfConference DOI: 10.1530/endoabs.94.op5.3 QMRO: qmroHref Smith C, Abdullah M, Hassan S et al. (publicationYear). Genetic aetiology of primary adrenal insufficiency in Sudan. nameOfConference DOI: 10.1530/endoabs.94.p15 QMRO: qmroHref Smith C, Jackson A, Al-Salihi A et al. (2023). SAT292 Adrenal Insufficiency Associated With Biallelic Mutations In Porphyria Genes. nameOfConference DOI: 10.1210/jendso/bvad114.296 QMRO: qmroHref Williams JL, Smith CJ, Mastroianni G et al. (2023). Abstract P2043: Loss Of Full-length Mylk3 Causes Dilated Cardiomyopathy Via A Myl2-independent Mechanism. nameOfConference DOI: 10.1161/res.133.suppl_1.p2043 QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/96506 Williams J, Stewart M, Tinker A et al. (2023). BS18 Loss of full-length MYLK3 causes dilated cardiomyopathy via a MYL2-independent mechanism.. Basic Science DOI: 10.1136/heartjnl-2023-bcs.232 QMRO: qmroHref Smith C, Jackson A, Al-Salihi A et al. (publicationYear). Adrenal Insufficiency Associated with Biallelic Mutations in Porphyria Genes. nameOfConference DOI: 10.1530/endoabs.90.oc5.4 QMRO: qmroHref Smith C, Abdullah M, Hassan S et al. (publicationYear). Genetic Aetiology of Primary Adrenal Insufficiency in Sudan. nameOfConference DOI: 10.1530/endoabs.90.p560 QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/88342 Smith CJ, Chan L, Metherell LA (2023). 769 Reduced expression of PPOX, the variegate porphyria gene, causes intrinsic pathological changes to keratinocytes. nameOfConference DOI: 10.1016/j.jid.2023.03.778 QMRO: qmroHref Andrews A, Cottrell E, Maharaj A et al. (2023). Characterization of dominant-negative growth hormone receptor variants reveals a potential therapeutic target for short stature. nameOfConference DOI: 10.1093/ejendo/lvad039 QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/86191 Smith CJ, Williams JL, Hall C et al. (2023). Ichthyosis linked to sphingosine 1-phosphate lyase insufficiency is due to aberrant sphingolipid and calcium regulation. nameOfConference DOI: 10.1016/j.jlr.2023.100351 QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/84979 Williams JL, Smith C, Hall C et al. (2023). Elevated sphingosine-1-phosphate lyase leads to increased metabolism and reduced survival in adrenocortical carcinoma. nameOfConference DOI: 10.1093/ejendo/lvac007 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/84980 Corkery-Hayward M, Metherell LA (publicationYear). Adrenal Dysfunction in Mitochondrial Diseases. nameOfConference DOI: 10.3390/ijms24021126 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/84978 Smith CJ, Chan L, Metherell LA (2023). Reduced expression of PPOX, the variegate porphyria gene, causes intrinsic pathological changes to keratinocytes. nameOfConference DOI: doi QMRO: qmroHref Smith CJ, Williams JL, Hall C et al. (2022). 181 Sphingosine 1-phosphate lyase insufficiency induced ichthyosis is due to sphingolipid imbalance, increased differentiation, and aberrant intercellular junctions. nameOfConference DOI: 10.1016/j.jid.2022.09.192 QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/83169 Chan L, Smith C, Read J et al. (2022). RF33 | PSAT69 A Combined Candidate Gene/Whole Exome Sequencing Approach Permits a Rapid Genetic Diagnosis for >81% Individuals with Primary Adrenal Insufficiency.. nameOfConference DOI: 10.1210/jendso/bvac150.286 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/85130 Cottrell E, Andrews A, Williams J et al. (publicationYear). A rare heterozygous IGFI variant impairing IGF-I cleavage and causing postnatal growth failure: a novel disease mechanism offering insights into IGF-I physiology. nameOfConference DOI: 10.1530/endoabs.85.p46 QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/85106 Cottrell E, Maharaj A, Triggs-Raine B et al. (publicationYear). Characterisation of the first heterozygous missense HMGA2 variant helps delineate the crucial functional roles of a novel growth gene. nameOfConference DOI: 10.1530/endoabs.85.oc8.3 QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/85105 Ming WKR, Williams J, Maharaj AV et al. (publicationYear). SGPL1 deficiency impairs Leydig cell steroidogenesis and should be considered in 46XY individuals with DSD and adrenal insufficiency. nameOfConference DOI: 10.1530/endoabs.85.oc5.8 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/85124 Maitra S, Smith C, Hall C et al. (publicationYear). The lack of genotype: phenotype correlations in rare causes of primary adrenal insufficiency highlights the need for genetic testing. nameOfConference DOI: 10.1530/endoabs.85.oc5.5 QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/85120 Maharaj A, Cottrell E, van DH et al. (publicationYear). Understanding the molecular basis of short stature in six patients with pathogenic variants in HMGA2. nameOfConference DOI: 10.1530/endoabs.85.p44 QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/85119 Smith C, Williams J, Hall C et al. (publicationYear). ESDR181 - Sphingosine 1-phosphate lyase insufficiency induced ichthyosis is due to sphingolipid imbalance, increased differentiation, and aberrant intercellular junctions.. nameOfConference DOI: 10.26226/m.62fa0094a32203001a2f3e54 QMRO: qmroHref A A, A M, E C et al. (publicationYear). Genetic characterization of short stature patients with overlapping features of growth hormone insensitivity syndromes. nameOfConference DOI: 10.1530/ey.19.4.10 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/85103 Williams JL, Paudyal A, Stewart M et al. (2022). Abstract P2005: Loss Of Full-length Mylk3 Causes Dilated Cardiomyopathy Via A MYL2-independent Mechanism. nameOfConference DOI: 10.1161/res.131.suppl_1.p2005 QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/83018 Maharaj A, Kwong R, Williams J et al. (2022). A retrospective analysis of endocrine disease in sphingosine-1-phosphate lyase insufficiency: case series and literature review. nameOfConference DOI: 10.1530/ec-22-0250 QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/85110 Smith C, Read J, Hall C et al. (publicationYear). A rapid genetic diagnosis for >80% individuals with non-CAH Primary Adrenal Insufficiency is achievable by candidate gene sequencing combined with WES. nameOfConference DOI: 10.1530/endoabs.81.rc2.1 QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/85108 Williams J, Smith C, Hall C et al. (publicationYear). Elevated SGPL1 expression is associated with increased metabolic rate in cells and reduced survival in individuals with adrenocortical carcinoma. nameOfConference DOI: 10.1530/endoabs.81.p125 QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/85129 Ali N, Maharaj AV, Buonocore F et al. (publicationYear). Can Digenic, Tri-Allelic Inheritance of Variants in STAR and CYP11A1 Give Rise to Primary Adrenal Insufficiency? A Case Report. nameOfConference DOI: 10.3389/fendo.2022.860055 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/78229 Maharaj A, Güran T, Buonocore F et al. (2022). Insights From Long-term Follow-up of a Girl With Adrenal Insufficiency and Sphingosine-1-Phosphate Lyase Deficiency. nameOfConference DOI: 10.1210/jendso/bvac020 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/78228 Musa SA, Abdullah MA, Hassan SS et al. (2022). Clinical and Genetic characterization of primary adrenal insufficiency in Sudanese children. nameOfConference DOI: doi QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/85107 Smith CJ, Williams JL, Hall C et al. (2022). Sphingosine 1-phosphate lyase insufficiency induced ichthyosis is due to sphingolipid imbalance, increased differentiation, and aberrant intercellular junctions. nameOfConference DOI: doi QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/85104 Farooqi N, Metherell LA, Schrauwen I et al. (2021). Exome sequencing identifies a novel fbn1 variant in a pakistani family with marfan syndrome that includes left ventricle diastolic dysfunction. nameOfConference DOI: 10.3390/genes12121915 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/75753 Williams J, paudyal A, Stewart M et al. (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. nameOfConference DOI: 10.1161/circ.144.suppl_1.14037 QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/83020 Cottrell E, Maharaj A, Williams J et al. (publicationYear). Growth hormone receptor 6Ω pseudoexon activation: a novel cause of severe growth hormone insensitivity. nameOfConference DOI: 10.1530/endoabs.78.oc4.3 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/85116 Andrews A, Cottrell E, Maharaj A et al. (publicationYear). Novel dominant negative GH receptor variants provide important insights into GH receptor physiology. nameOfConference DOI: 10.1530/endoabs.78.oc6.1 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/74648 Smith C, Maharaj A, Qamar Y et al. (publicationYear). In vitro splicing assay proves the pathogenicity of intronic variants in MRAP. nameOfConference DOI: 10.1530/endoabs.77.p134 QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/77625 Williams J, Smith C, Maharaj A et al. (publicationYear). SGPL1 regulates expression of electron transport chain components to modulate cellular metabolism in the adrenal gland. nameOfConference DOI: 10.1530/endoabs.77.p11 QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/77624 Smith CJ, Williams JL, Caley MP et al. (2021). 099 Ichthyosis associated with sphingosine 1-phosphate lyase deficiency is due to aberrant calcium and sphingolipid regulation. nameOfConference DOI: 10.1016/j.jid.2021.08.102 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/74833 Maudhoo A, Maharaj A, Buonocore F et al. (2021). Missplicing due to a synonymous, T96= exonic substitution in the T-box transcription factor TBX19 resulting in isolated ACTH deficiency. nameOfConference DOI: 10.1530/edm-21-0128 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/73999 Zhou J, Azizan EAB, Cabrera CP et al. (2021). Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause. nameOfConference DOI: 10.1038/s41588-021-00906-y QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/73714 Argentesi G, Azizan E, Zhou J et al. (2021). Somatic mutations of GNA11 and GNAQ in CTNNB1-mutant aldosterone-producing adenomas presenting in puberty, pregnancy or menopause.. nameOfConference DOI: 10.1038/s41588-021-00906-y QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/76003 Buonocore F, Maharaj A, Qamar Y et al. (2021). Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK. nameOfConference DOI: 10.1210/jendso/bvab086 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/72080 Cottrell E, Maharaj A, Williams J et al. (2021). Growth Hormone Receptor (GHR) 6Ω Pseudoexon Activation: a Novel Cause of Severe Growth Hormone Insensitivity.. nameOfConference DOI: 10.1210/clinem/dgab550 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/79899 Cottrell E, Maharaj A, Williams J et al. (2021). Growth Hormone Receptor (Ghr) 6ω Pseudoexon Activation: A Novel Cause Of Severe Growth Hormone Insensitivity (Ghi).. nameOfConference DOI: 10.1210/clinem/dgab550 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/73361 Andrews A, Maharaj A, Cottrell E et al. (2021). Genetic Characterization of Short Stature Patients with Overlapping Features of Growth Hormone Insensitivity Syndromes. nameOfConference DOI: 10.1210/clinem/dgab437 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/72898 Williams JL, Hall CL, Meimaridou E et al. (publicationYear). Loss of Nnt Increases Expression of Oxidative Phosphorylation Complexes in C57BL/6J Hearts. nameOfConference DOI: 10.3390/ijms22116101 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/72729 Zhou J, Boulkroun S, Cabrera CP et al. (2021). CTNNB1-Mutant Aldosterone-Producing Adenomas With Somatic Mutations of GNA11/GNAQ Have Distinct Phenotype and Genotype. nameOfConference DOI: 10.1210/jendso/bvab048.133 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/71887 Smith C, Maharaj AV, Qamar Y et al. (2021). In Vitro Splicing Assay Proves the Pathogenicity of Intronic Variants in MRAP. nameOfConference DOI: 10.1210/jendso/bvab048.172 QMRO: https://qmro.qmul.ac.uk/xmlui/handle/123456789/71889 Azizan EAB, Zhou J, Cabrera CP et al. (2021). Somatic Mutations of GNA11 and GNAQ in CTNNB1-Mutant Aldosterone-Producing Adenomas Increases Aldosterone and Aldosterone Synthase (CYP11B2). nameOfConference DOI: 10.1210/jendso/bvab048.145 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/71900 Kwong RMW, Maharaj AV, Metherell L et al. (2021). Sphingosine 1- Phosphate Lyase Insufficiency Syndrome (SPLIS); A Role in Multiple Endocrinopathies. nameOfConference DOI: 10.1210/jendso/bvab048.1351 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/71901 Buonocore F, Maharaj A, Qamar Y et al. (2021). Genetic analysis of paediatric primary adrenal insufficiency of unknown aetiology over 25 years. nameOfConference DOI: doi QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/74647 Smith CJ, Williams JL, Caley MP et al. (2021). Ichthyosis associated with sphingosine 1-phosphate lyase deficiency is due to aberrant calcium and sphingolipid regulation. nameOfConference DOI: doi QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/75227 Chatterjee S, Bertola DR, Agwu C et al. (2021). Novel LZTR1 mutations in subjects with features of Noonan Syndrome and GH insensitivity negatively regulate GH-induced IGF-I production and hyperactivate GH-induced ERK1/2 activation in response to GH in vitro. nameOfConference DOI: doi QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/74649 Kwong R, Maharaj A, Metherell L et al. (2021). Sphingosine 1-phosphate lyase insufficiency syndrome (SPLIS) as a cause of primary adrenal insufficiency and primary hypogonadism. nameOfConference DOI: doi QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/74650 Cottrell E, Cabrera CP, Ishida M et al. (2020). Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivity. nameOfConference DOI: 10.1530/eje-20-0474 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/68318 Maharaj A, Williams J, Bradshaw T et al. (2020). Sphingosine-1-phosphate lyase (SGPL1) deficiency is associated with mitochondrial dysfunction. nameOfConference DOI: 10.1016/j.jsbmb.2020.105730 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/66206 Maharaj A, Theodorou D, Banerjee I et al. (publicationYear). A Sphingosine-1-Phosphate Lyase Mutation Associated With Congenital Nephrotic Syndrome and Multiple Endocrinopathy. nameOfConference DOI: 10.3389/fped.2020.00151 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/63870 Zhou J, Cabrera CP, Azizan EAB et al. (2020). SAT-224 Recurrent Co-Driver Mutation in CTNNB1-Mutant Aldosterone-producing Adenomas (APA), Causing Reversible Hypertension in Puberty, Pregnancy or Menopause. nameOfConference DOI: 10.1210/jendso/bvaa046.1231 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/68176 Williams JL, Paudyal A, Awad S et al. (2020). Mylk3 null C57BL/6N mice develop cardiomyopathy, whereas Nnt null C57BL/6J mice do not. nameOfConference DOI: 10.26508/lsa.201900593 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/65421 Kallali W, Gray E, Mehdi MZ et al. (2020). Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: The importance of early diagnosis. nameOfConference DOI: 10.1530/EJE-19-0696 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/63740 Chatterjee S, Cottrell E, Rose SJ et al. (2020). GHR gene transcript heterogeneity may explain phenotypic variability in GHR pseudoexon (6Ψ) patients. nameOfConference DOI: 10.1530/ec-20-0026 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/64639 Chatterjee S, Bertola D, Agwu C et al. (publicationYear). Novel variants in the Leucine-zipper-like transcription regulator 1 (LZTR1) gene cause Noonan syndrome phenotype by upregulation of the RAS-MAPKinase pathway. nameOfConference DOI: 10.1530/endoabs.66.oc4.7 QMRO: qmroHref Qamar Y, Maharaj A, Chan L et al. (publicationYear). Rare causes of primary adrenal insufficiency (PAI) in children from Sudan. nameOfConference DOI: 10.1530/endoabs.66.oc5.9 QMRO: qmroHref Maharaj A, Williams J, Guran T et al. (publicationYear). SGPL1 deficiency leads to accumulation of sphingolipid species and downregulation of key enzymes within the steroidogenic pathway. nameOfConference DOI: 10.1530/endoabs.66.oc4.8 QMRO: qmroHref Cottrell E, Maharaj A, Ladha T et al. (publicationYear). Three novel Growth Hormone Receptor (GHR) splicing mutations causing a spectrum of Growth Hormone Insensitivity. nameOfConference DOI: 10.1530/endoabs.66.p73 QMRO: qmroHref Qamar Y, Maharaj A, Chan L et al. (publicationYear). Splice-site mutations in the melanocortin-2 receptor accessory protein that lead to early-onset familial glucocorticoid deficiency type 2. nameOfConference DOI: 10.1530/endoabs.65.cc2 QMRO: qmroHref Smith C, Maharaj A, Prasad R et al. (publicationYear). Twenty-five years of familial glucocorticoid deficiency: genotypic and phenotypic variability. nameOfConference DOI: 10.1530/endoabs.65.p48 QMRO: qmroHref SR H, R O, A P et al. (publicationYear). HS6ST1 insufficiency causes self-limited delayed puberty in contrast with other GnRH deficiency genes. nameOfConference DOI: 10.1530/ey.16.7.4 QMRO: qmroHref Maharaj A, Meimaridou E, Williams J et al. (2019). SGPL1 deficiency leads to downregulation of key enzymes within the steroidogenic pathway. The 58th Annual ESPE Meeting DOI: doi QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/66718 Novoselova TV, King PJ, Guasti L et al. (2019). ACTH signalling and adrenal development: lessons from mouse models. nameOfConference DOI: 10.1530/ec-19-0190 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/59205 Maharaj A, Maudhoo A, Chan LF et al. (2019). Isolated glucocorticoid deficiency: Genetic causes and animal models. nameOfConference DOI: 10.1016/j.jsbmb.2019.02.012 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/59026 Chatterjee S, Rose SJ, Mushtaq T et al. (2019). GHR transcript heterogeneity may explain the phenotypic variability in patients with homozygous GHR pseudoexon (6Ψ) mutation. nameOfConference DOI: doi QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/65662 Kallali W, Gray E, Mehdi MZ et al. (2019). CYP11A1 (side-chain cleavage enzyme) defect in three brothers causing glucocorticoid and mineralocorticoid deficiency and development of testicular adrenal rest testicular tumour. nameOfConference DOI: doi QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/65541 Smith CJ, Maharaj AV, Prasad R et al. (2019). Genetics of Familial Glucocorticoid Deficiency over the Decades: Phenotypic Variability and Associated Features. nameOfConference DOI: doi QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/65660 Settas N, Persky R, Faucz FR et al. (2019). SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency. nameOfConference DOI: 10.1210/jc.2018-02238 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/54831 Maudhoo A, Maharaj A, Buonocore F et al. (publicationYear). Missplicing due to a silent exonic substitution in the T-box transcription factor TBX19 resulting in Isolated ACTH deficiency. nameOfConference DOI: 10.1530/endoabs.59.cc2 QMRO: qmroHref Maharaj A, Buonocore F, Meimaridou E et al. (2019). Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing. nameOfConference DOI: 10.1210/js.2018-00130 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/54757 Cottrell E, Maharaj A, Chatterjee S et al. (publicationYear). A novel GHR pseudoexon mutation causing frameshift and severe postnatal growth failure. nameOfConference DOI: 10.1530/endoabs.58.oc5.7 QMRO: qmroHref Costa ARD, Qarin S, Bradshaw T et al. (publicationYear). Can novel stem cell models help unpick the pathogenesis of the Triple A syndrome?. nameOfConference DOI: 10.1530/endoabs.58.oc5.3 QMRO: qmroHref Chatterjee S, Rose SJ, Mushtaq T et al. (publicationYear). Genotype-phenotype correlation in patients with homozygous GHR pseudoexon (6Ψ) mutation. nameOfConference DOI: 10.1530/endoabs.58.p024 QMRO: qmroHref Cottrell E, Chatterjee S, Moore G et al. (publicationYear). Patients with short stature and GH/IGF-1 insensitivity harbour copy number variants causing a Silver-Russell-like phenotype. nameOfConference DOI: 10.1530/endoabs.58.oc5.8 QMRO: qmroHref Prasad R, Maharaj A, Bradshaw T et al. (publicationYear). Sphingosine-1-phosphate lyase (SGPL1) deficiency is associated with mitochondrial dysfunction. nameOfConference DOI: 10.1530/endoabs.58.p005 QMRO: qmroHref Storr HL, Chatterjee S, Metherell LA et al. (2019). Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action. nameOfConference DOI: 10.1210/er.2018-00146 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/45844 Da Costa AR, Qarin S, Bradshaw TY et al. (2018). A Novel Stem Cell Model for the Triple a Syndrome. 57th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE) DOI: 10.1159/000492307 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/64999 Cottrell E, Maharaj A, Chatterjee S et al. (2018). A Second Growth Hormone Receptor Pseudoexon Mutation Causing Frameshift and Severe Postnatal Growth Failure. European Society for Paediatric Endocrinology DOI: 10.1530/endoabs.59.cc5 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/57816 Cottrell E, Chatterjee S, Moore G et al. (2018). Patients with GH Insensitivity and IGF-1 Resistance Harbour Copy Number Variants Causing a Silver-Russell-Like Phenotype. European Society for Paediatric Endocrinology DOI: doi QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/57822 Maharaj A, Wallace D, Banerjee I et al. (2018). SGPL1 Missense Mutation in an Infant with Primary Adrenal Insufficiency (PAI), Congenital Nephrotic Syndrome, Primary Hypothyroidism and Gonadal Failure. 57th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE) DOI: doi QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/64684 Maharaj A, Bradshaw T, Williams J et al. (2018). Sphingosine-1-Phosphate Lyase (SGPL1) Deficiency Is Associated with Mitochondrial Dysfunction. 57th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE) DOI: 10.1016/j.jsbmb.2020.105730 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/65943 G R-B, M B, I H et al. (publicationYear). Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells. nameOfConference DOI: 10.1530/ey.15.8.14 QMRO: qmroHref Howard SR, Oleari R, Poliandri A et al. (2018). HS6ST1 Insufficiency Causes Self-Limited Delayed Puberty in Contrast With Other GnRH Deficiency Genes. nameOfConference DOI: 10.1210/jc.2018-00646 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/42223 Novoselova TV, Hussain M, King PJ et al. (2018). MRAP deficiency impairs adrenal progenitor cell differentiation and gland zonation. nameOfConference DOI: 10.1096/fj.201701274rr QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/39467 Klammt J, Neumann D, Gevers EF et al. (publicationYear). Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation. nameOfConference DOI: 10.1038/s41467-018-04521-0 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/39923 Chortis V, Taylor A, Doig C et al. (publicationYear). Nicotinamide Nucleotide Transhydrogenase as a novel treatment target in adrenocortical carcinoma. nameOfConference DOI: 10.1530/endoabs.56.gp23 QMRO: qmroHref Chortis V, Taylor AE, Doig CL et al. (2018). Nicotinamide Nucleotide Transhydrogenase as a Novel Treatment Target in Adrenocortical Carcinoma. nameOfConference DOI: 10.1210/en.2018-00014 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/54841 Chatterjee S, Shapiro L, Rose SJ et al. (2018). Phenotypic spectrum and responses to recombinant human IGF1 (rhIGF1) therapy in patients with homozygous intronic pseudoexon growth hormone receptor mutation. nameOfConference DOI: 10.1530/eje-18-0042 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/36453 Ruiz-Babot G, Balyura M, Hadjidemetriou I et al. (2018). Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells. nameOfConference DOI: 10.1016/j.celrep.2018.01.003 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/32031 Andrews E, Taylor C, Metherell L et al. (publicationYear). An unusual presentation of congenital lipoid adrenal hyperplasia and novel STAR mutation in two siblings. nameOfConference DOI: 10.1530/endoabs.51.p010 QMRO: qmroHref Da CAR, Meimaridou E, Prasad R et al. (publicationYear). Novel evidence implies that ALADIN, the triple A syndrome gene product is involved in mitochondrial physiology. nameOfConference DOI: 10.1530/endoabs.51.oc5.3 QMRO: qmroHref Chatterjee S, Rose S, Mushtaq T et al. (publicationYear). Phenotypic spectrum and response to recombinant human IGF1(rhIGF1) therapy in patients with homozygous intronic pseudoexon (6Ψ)GH receptor mutations. nameOfConference DOI: 10.1530/endoabs.51.oc5.6 QMRO: qmroHref Chortis V, Taylor AE, Doig CL et al. (publicationYear). Antioxidant pathway targeting as a therapeutic approach in adrenocortical carcinoma. nameOfConference DOI: 10.1530/endoabs.50.oc1.3 QMRO: qmroHref Maharaj A, Buonocore F, Meimaridou E et al. (publicationYear). Predicted benign and silent SNPs in CYP11A1 cause primary adrenal insufficiency through missplicing. nameOfConference DOI: 10.1530/endoabs.50.oc4.1 QMRO: qmroHref Meimaridou E, Goldsworthy M, Chortis V et al. (2018). NNT is a key regulator of adrenal redox homeostasis and steroidogenesis in male mice. nameOfConference DOI: 10.1530/joe-16-0638 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/31334 Shapiro L, Chatterjee S, Ramadan DG et al. (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. nameOfConference DOI: 10.1530/eje-17-0453 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/26028 Salvatori R, Radian S, Diekmann Y et al. (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.. nameOfConference DOI: 10.1530/EJE-17-0293 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/25046 Wacharasindhu S, Panamonta O, Shapiro L et al. (2017). Young Thai sisters with growth hormone insensitivity or Laron syndrome. nameOfConference DOI: 10.5372/1905-7415.1102.549 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/40303 Vairamani K, Merjaneh L, Casano-Sancho P et al. (2017). Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I Deficiency.. nameOfConference DOI: 10.1210/js.2016-1119 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/32148 METHERELL LA, Prasad R, Storr HL et al. (2017). Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome. nameOfConference DOI: 10.1172/JCI90171 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/22389 Vairamani K, Merjaneh L, Casano-Sancho P et al. (2017). NOVEL DOMINANT-NEGATIVE GH RECEPTOR MUTATIONS EXPANDS THE SPECTRUM OF GHI AND IGF-I DEFICIENCY. nameOfConference DOI: doi QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/65768 Chatterjee S, Shapiro L, Rose S et al. (2017). PHENOTYPIC SPECTRUM AND RESPONSES TO RECOMBINANT HUMAN IGF-I (RHIGF-I) THERAPY IN PATIENTS WITH HOMOZYGOUS GH RECEPTOR PSEUDOEXON DEFECTS. nameOfConference DOI: doi QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/65841 METHERELL LA (2016). Cytochrome p450 side chain cleavage enzyme (CYP11A1) mutations: Phenotypic variability and identification of p.E314K as a recurrent, pathogenic variant. 44th Meeting of the British Society for Paediatric Endocrinology and Diabetes DOI: 10.1530/endoabs.45.OC5.6 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/20640 METHERELL LA (2016). Predictive factors of an underlying genetic defect in children with short stature and suspected growth hormone insensitivity (GHI). 44th Meeting of the British Society for Paediatric Endocrinology and Diabetes DOI: 10.1530/endoabs.45.OC6.6 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/56957 METHERELL LA (2016). Mutations in SGPL1, encoding sphingosine-1-phosphate lyase, cause a novel form of primary adrenal insufficiency with steroid resistant nephrotic syndrome. Society for Endocrinology BES 2016 DOI: 10.1530/endoabs.44.OC1.1 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/50903 Metherell L, Guerra-Assuncao JA, Sternberg M et al. (publicationYear). Structural analysis of nicotinamide nucleotide transhydrogenase (NNT) genetic variants causing adrenal disorders. nameOfConference DOI: 10.1530/endoabs.44.p27 QMRO: qmroHref Metherell LA, Guerra‐Assunção JA, Sternberg MJ et al. (2016). Three‐Dimensional Model of Human Nicotinamide Nucleotide Transhydrogenase (NNT) and Sequence‐Structure Analysis of its Disease‐Causing Variations. nameOfConference DOI: 10.1002/humu.23046 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/15058 Chortis V, Taylor AE, Doig CL et al. (publicationYear). Stressed to death - antioxidant pathway targeting as a novel therapeutic approach in adrenocortical carcinoma. nameOfConference DOI: 10.1530/endoabs.41.oc9.3 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/51063 HOWARD SR, Guasti L, Ruiz-Babot G et al. (2016). IGSF10 mutations dysregulate gonadotropin‐releasing hormone neuronal migration resulting in delayed puberty. nameOfConference DOI: 10.15252/emmm.201606250 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/18622 Howard S, Guasti L, Ruiz-Babot G et al. (2016). Role of IGSF10 mutations in self-limited delayed puberty. nameOfConference DOI: 10.1016/s0140-6736(16)00401-3 QMRO: qmroHref Shapiro L, Savage M, Davies K et al. (2016). Whole Exome Sequencing can Identify Defects not Detected by Candidate Gene Sequencing in Patients with Short Stature and Features of Growth Hormone Insensitivity (GHI). nameOfConference DOI: doi QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/24789 Tsai SL, Green J, Metherell LA et al. (2016). Primary Adrenocortical Insufficiency Case Series: Genetic Etiologies More Common than Expected. nameOfConference DOI: 10.1159/000441843 QMRO: qmroHref Pease-Gevers E, Klammt J, Andrew S et al. (publicationYear). Dominant negative STAT5B variants in two families with mild GH insensitivity and eczema. nameOfConference DOI: 10.1530/endoabs.39.oc5.3 QMRO: qmroHref Shapiro L, Savage M, Metherell L et al. (publicationYear). Genetic characterisation of children with short stature and GH or IGF1 insensitivity by single gene and whole exome sequencing. nameOfConference DOI: 10.1530/endoabs.39.oc5.2 QMRO: qmroHref Howard S, Poliandre A, Storr HL et al. (publicationYear). Mutations in HS6ST1 cause self-limited delayed puberty (DP) in addition to idiopathic hypogonadotropic hypogonadism (IHH). nameOfConference DOI: 10.1530/endoabs.39.p1 QMRO: qmroHref Howard S, Guasti L, Ruiz-Babot G et al. (publicationYear). Mutations in IGSF10 cause self-limited delayed puberty. nameOfConference DOI: 10.1530/endoabs.39.oc5.1 QMRO: qmroHref Buonocore F, Chan L, Achermann J et al. (publicationYear). Molecular diagnosis of patients with adrenal insufficiency using a targeted custom Haloplex next-generation sequencing panel. nameOfConference DOI: 10.1530/endoabs.38.oc3.1 QMRO: qmroHref Howard S, Poliandri A, Storr H et al. (publicationYear). Mutations in HS6ST1 are causal in self-limited delayed puberty as well as idiopathic hypogonadotropic hypogonadism. nameOfConference DOI: 10.1530/endoabs.38.oc6.3 QMRO: qmroHref Howard S, Guasti L, Ruiz-Babot G et al. (publicationYear). Mutations in IGSF10 cause self-limited delayed puberty, via disturbance of GnRH neuronal migration. nameOfConference DOI: 10.1530/endoabs.38.oc1.2 QMRO: qmroHref Chortis V, Taylor A, Doig C et al. (publicationYear). Nicotinamide nucleotide transhydrogenase (NNT) as a novel molecular target in adrenocortical carcinoma - impact of NNT knockdown on adrenocortical cell proliferation, redox balance and steroidogenesis. nameOfConference DOI: 10.1530/endoabs.38.p145 QMRO: qmroHref Meimaridou E, Goldsworthy M, Chortis V et al. (publicationYear). RNA-sequencing of mouse adrenals reveals the pathways perturbed by loss of nicotinamide nucleotide transhydrogenase. nameOfConference DOI: 10.1530/endoabs.38.oc1.3 QMRO: qmroHref Chan LF, Campbell DC, Novoselova TV et al. (publicationYear). Whole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in Children. nameOfConference DOI: 10.3389/fendo.2015.00113 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/10570 Storr HL, Prasad R, Temple IK et al. (2015). Heterogeneity of the growth phenotype and birth size in acid-labile subunit (ALS) deficiency.. nameOfConference DOI: 10.1007/s40618-014-0195-1 QMRO: qmroHref Storr HL, Dunkel L, Kowalczyk J et al. (2015). Genetic characterisation of a cohort of children clinically labelled as GH or IGF1 insensitive: diagnostic value of serum IGF1 and height at presentation.. nameOfConference DOI: 10.1530/EJE-14-0541 QMRO: qmroHref Novoselova TV, Rath SR, Carpenter K et al. (2015). NNT Pseudoexon Activation as a Novel Mechanism for Disease in Two Siblings With Familial Glucocorticoid Deficiency. nameOfConference DOI: 10.1210/jc.2014-3641 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/6687 Meimaridou E, Kowalczyk J, Metherell LA (publicationYear). Molecular Genetics of Inherited Glucocorticoid Deficiency. nameOfConference DOI: 10.1002/9780470015902.a0025368 QMRO: qmroHref Pease-Gevers E, Kowalczyk J, Storr H et al. (publicationYear). A heterozygous STAT5B variant in a family with short stature and transient hyperprolactinaemia: a possible dominant negative effect. nameOfConference DOI: 10.1530/endoabs.36.p65 QMRO: qmroHref Novoselova T, Spoudeas H, Huebner A et al. (publicationYear). Varied clinical presentations of six patients with mutations in CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450scc. nameOfConference DOI: 10.1530/endoabs.36.p12 QMRO: qmroHref Chan L, Novoselova T, Rath S et al. (publicationYear). cDNA analysis reveals NNT pseudoexon activation in two siblings with familial glucocorticoid deficiency. nameOfConference DOI: 10.1530/endoabs.36.p4 QMRO: qmroHref Prasad R, Chan LF, Hughes CR et al. (2014). Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD).. nameOfConference DOI: 10.1210/jc.2013-3844 QMRO: qmroHref Prasad R, Kowalczyk JC, Meimaridou E et al. (2014). Oxidative stress and adrenocortical insufficiency.. nameOfConference DOI: 10.1530/JOE-13-0346 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/18036 Meimaridou E, Prasad R, Kowalczyk J et al. (publicationYear). Mitochondrial thiol systems are important players in antioxidant defence for the human adrenal cortex. nameOfConference DOI: 10.1530/endoabs.35.p38 QMRO: qmroHref Högler W, Martin DD, Crabtree N et al. (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.. nameOfConference DOI: 10.1210/jc.2013-3718 QMRO: qmroHref Howard S, Guasti L, Storr H et al. (publicationYear). A novel gene affecting the timing of puberty. nameOfConference DOI: 10.1530/endoabs.34.p158 QMRO: qmroHref Poukoulidou T, Kowalczyk J, Metherell L et al. (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. nameOfConference DOI: 10.1159/000358329 QMRO: qmroHref Prasad R, Metherell LA, Clark AJ et al. (2013). Deficiency of ALADIN impairs redox homeostasis in human adrenal cells and inhibits steroidogenesis.. nameOfConference DOI: 10.1210/en.2013-1241 QMRO: qmroHref Meimaridou E, Prasad R, Kowalczyk JC et al. (2013). PP43 Genome sequencing reveals mitochondrial thiol systems are essential for antioxidant defence in human adrenal glands. nameOfConference DOI: 10.1016/j.freeradbiomed.2013.08.052 QMRO: qmroHref Meimaridou E, Hughes CR, Kowalczyk J et al. (2013). Familial glucocorticoid deficiency: New genes and mechanisms. nameOfConference DOI: 10.1016/j.mce.2012.12.010 QMRO: qmroHref Meimaridou E, Hughes CR, Kowalczyk J et al. (2013). Familial glucocorticoid deficiency: New genes and mechanisms.. nameOfConference DOI: 10.1016/j.mce.2012.12.010 QMRO: qmroHref Prasad R, Hughes C, Chan L et al. (publicationYear). A mutation in thioredoxin reductase 2 (TXNRD2) is associated with a predominantly adrenal phenotype in humans. nameOfConference DOI: 10.1530/endoabs.31.oc2.5 QMRO: qmroHref Howard S, Barnes M, Storr H et al. (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. nameOfConference DOI: 10.1530/endoabs.31.p145 QMRO: qmroHref Meimaridou E, Hughes CR, Kowalczyk J et al. (2013). ACTH resistance: genes and mechanisms.. nameOfConference DOI: 10.1159/000342504 QMRO: qmroHref Yates R, Katugampola H, Cavlan D et al. (2013). Adrenocortical development, maintenance, and disease.. nameOfConference DOI: 10.1016/B978-0-12-416021-7.00007-9 QMRO: qmroHref Habeb AM, Hughes CR, Al-Arabi R et al. (2013). Familial glucocorticoid deficiency: a diagnostic challenge during acute illness. nameOfConference DOI: 10.1007/s00431-013-2044-1 QMRO: qmroHref Kowalczyk⁎ J, Meimaridou E, Guasti L et al. (2012). A homozygous glutathione peroxidase 1 mutation, p. Arg130-Leu133del, in a patient with familial glucocorticoid deficiency. nameOfConference DOI: 10.1016/j.freeradbiomed.2012.08.462 QMRO: qmroHref Meimaridou E, Kowalczyk J, Guasti L et al. (2012). Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency.. nameOfConference DOI: 10.1038/ng.2299 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/18037 Turan S, Hughes C, Atay Z et al. (2012). An atypical case of familial glucocorticoid deficiency without pigmentation caused by coexistent homozygous mutations in MC2R (T152K) and MC1R (R160W).. nameOfConference DOI: 10.1210/jc.2011-2414 QMRO: qmroHref Clark AJL, Storr HL, Meimaridou E et al. (2012). Oxidative Stress as a Disease Mechanism in Inherited Adrenal Failure. nameOfConference DOI: doi QMRO: qmroHref Hughes CR, Guasti L, Meimaridou E et al. (2012). MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans. nameOfConference DOI: 10.1172/JCI60224 QMRO: qmroHref Jain V, Metherell LA, David A et al. (2011). Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory protein.. nameOfConference DOI: 10.1530/EJE-11-0581 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/18033 McEachern R, Drouin J, Metherell L et al. (2011). Severe cortisol deficiency associated with reversible growth hormone deficiency in two infants: what is the link?. nameOfConference DOI: 10.1210/jc.2011-0129 QMRO: qmroHref David A, Hwa V, Metherell LA et al. (2011). Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity.. nameOfConference DOI: 10.1210/er.2010-0023 QMRO: qmroHref Metherell LA, STORR HL, Savage MO (2011). Genetic defects of the human somatotrophic axis. nameOfConference DOI: 10.1093/med/9780199235292.003.7052 QMRO: qmroHref Hughes C, Metherell L, Clark AJL (2011). Familial glucocorticoid deficiency. nameOfConference DOI: 10.1093/med/9780199235292.003.0611 QMRO: qmroHref Chan LF, Metherell LA, Clark AJL (2011). Effects of melanocortins on adrenal gland physiology. nameOfConference DOI: 10.1016/j.ejphar.2010.11.041 QMRO: qmroHref Savage MO, Hwa V, David A et al. (2011). Genetic Defects in the Growth Hormone-IGF-I Axis Causing Growth Hormone Insensitivity and Impaired Linear Growth.. nameOfConference DOI: 10.3389/fendo.2011.00095 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/12236 Hughes CR, Chung TT, Habeb AM et al. (2010). Missense mutations in the melanocortin 2 receptor accessory protein that lead to late onset familial glucocorticoid deficiency type 2.. nameOfConference DOI: 10.1210/jc.2009-2731 QMRO: qmroHref David A, Srirangalingam U, Metherell LA et al. (2010). Repair of aberrant splicing in growth hormone receptor by antisense oligonucleotides targeting the splice sites of a pseudoexon.. nameOfConference DOI: 10.1210/jc.2009-1968 QMRO: qmroHref Hughes C, Chung TT, Clark AJ et al. (2010). FUNCTIONAL CHARACTERISATION OF A MISSENSE MUTATION OF MRAP LEADING TO FAMILIAL GLUCOCORTICOID DEFICIENCY. nameOfConference DOI: doi QMRO: qmroHref David A, Srirangalingam U, Metherell LA et al. (2010). Repair of Aberrant Splicing in Growth Hormone Receptor by Antisense Oligonucleotides Targeting the Splice Sites of a Pseudoexon. nameOfConference DOI: 10.1210/mend.24.6.9994 QMRO: qmroHref Moyes VJ, Walker DM, Owusu-Antwi S et al. (2010). d3-GHR genotype does not explain heterogeneity in GH responsiveness in hypopituitary adults.. nameOfConference DOI: 10.1111/j.1365-2265.2009.03768.x QMRO: qmroHref Chung T-TLL, Chan LF, Metherell LA et al. (2010). Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2.. nameOfConference DOI: 10.1111/j.1365-2265.2009.03663.x QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/12230 Hughes CR, Chung TT, Habeb AM et al. (2010). Missense Mutations in the Melanocortin 2 Receptor Accessory Protein That Lead to Late Onset Familial Glucocorticoid Deficiency Type 2. nameOfConference DOI: 10.1210/endo.151.6.9991 QMRO: qmroHref Dias RP, Chan LF, Metherell LA et al. (2010). Isolated Addison's disease is unlikely to be caused by mutations in MC2R, MRAP or STAR, three genes responsible for familial glucocorticoid deficiency.. nameOfConference DOI: 10.1530/EJE-09-0720 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/18039 David A, Rose SJ, Miraki-Moud F et al. (2010). Acid-labile subunit deficiency and growth failure: description of two novel cases.. nameOfConference DOI: 10.1159/000308164 QMRO: qmroHref Storr HL, Metherell LA, Dias R et al. (2010). Familial Isolated Primary Pigmented Nodular Adrenocortical Disease Associated with a Novel Low Penetrance PRKAR1A Gene Splice Site Mutation. nameOfConference DOI: 10.1159/000277629 QMRO: qmroHref Storr HL, Metherell LA, Dias R et al. (2010). Familial isolated primary pigmented nodular adrenocortical disease associated with a novel low penetrance PRKAR1A gene splice site mutation.. nameOfConference DOI: 10.1159/000277629 QMRO: qmroHref David A, Miraki-Moud F, Shaw NJ et al. (2010). Identification and characterisation of a novel GHR defect disrupting the polypyrimidine tract and resulting in GH insensitivity.. nameOfConference DOI: 10.1530/EJE-09-0583 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/18038 Metherell LA, Naville D, Halaby G et al. (2009). Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency.. nameOfConference DOI: 10.1210/jc.2009-0467 QMRO: qmroHref Chan LF, Metherell LA, Krude H et al. (2009). Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiency.. nameOfConference DOI: 10.1111/j.1365-2265.2008.03511.x QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/18040 Milward A, Metherell L, Maamra M et al. (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)). nameOfConference DOI: doi QMRO: qmroHref Chan LF, Webb TR, Chung T-T et al. (2009). MRAP and MRAP2 are bidirectional regulators of the melanocortin receptor family.. nameOfConference DOI: 10.1073/pnas.0809918106 QMRO: qmroHref Chan LF, Chung T-T, Massoud AF et al. (2009). Functional consequence of a novel Y129C mutation in a patient with two contradictory melanocortin-2-receptor mutations.. nameOfConference DOI: 10.1530/EJE-08-0636 QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/18034 Clark AJL, Chan LF, Chung T-T et al. (2009). The genetics of familial glucocorticoid deficiency.. nameOfConference DOI: 10.1016/j.beem.2008.09.006 QMRO: qmroHref Cooray SN, Chan L, Webb TR et al. (2009). Accessory proteins are vital for the functional expression of certain G protein-coupled receptors.. nameOfConference DOI: 10.1016/j.mce.2008.10.004 QMRO: qmroHref Chan LF, David A, Jain V et al. (2009). A novel splice mutation (IVSds3+3insTA) in the melanocortin 2 receptor accessory protein that leads to skipping of exon 3. nameOfConference DOI: doi QMRO: qmroHref Hughes CR, Chung TT, Habeb AM et al. (2009). Functional characterisation of a missense mutation (p.Y59D) of MRAP which leads to familial glucocorticoid deficiency type 2. nameOfConference DOI: doi QMRO: qmroHref Metherell LA, Chung TT, Chan LF et al. (2009). Genotype:phenotype relationships in familial glucocorticoid deficiency types 1 and 2. nameOfConference DOI: doi QMRO: qmroHref Milward A, Metherell L, Maamra M et al. (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). nameOfConference DOI: doi QMRO: qmroHref Savage MO, David A, Camacho-Hubner C et al. (2009). Phenotypic aspects of growth hormone- and IGF-I-resistant syndromes.. nameOfConference DOI: 10.1159/000207483 QMRO: qmroHref Chung TT, Webb TR, Chan LF et al. (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.. nameOfConference DOI: 10.1210/jc.2008-1744 QMRO: qmroHref Camacho-Hübner C, David A, Rose S et al. (2008). OR9,3 Acid-labile subunit gene mutations: clinical, biochemical and molecular study in two unrelated families. nameOfConference DOI: 10.1016/s1096-6374(08)70059-5 QMRO: qmroHref David A, Rose S, Miraki-Moud F et al. (2008). Acid-labile subunit gene mutations: Clinical, biochemical and molecular study in two unrelated families. nameOfConference DOI: doi QMRO: qmroHref Cooray SN, Chan L, Metherell L et al. (2008). Adrenocorticotropin resistance syndromes.. nameOfConference DOI: 10.1159/000134828 QMRO: qmroHref Chan LF, Clark AJL, Metherell LA (2008). Familial glucocorticoid deficiency: advances in the molecular understanding of ACTH action.. nameOfConference DOI: 10.1159/000111810 QMRO: qmroHref Chan L, Chung TT, Massoud A et al. (2008). Functional consequence of two opposing MC2R mutations in a child with severe FGD phenotype. nameOfConference DOI: doi QMRO: qmroHref Rumié H, Metherell LA, Clark AJL et al. (2007). Clinical and biological phenotype of a patient with familial glucocorticoid deficiency type 2 caused by a mutation of melanocortin 2 receptor accessory protein.. nameOfConference DOI: 10.1530/EJE-07-0242 QMRO: qmroHref Vallette-Kasic S, Couture C, Balsalobre A et al. (2007). The TPIT gene mutation M86R associated with isolated adrenocorticotropin deficiency interferes with protein: Protein interactions. nameOfConference DOI: 10.1210/jc.2007-0284 QMRO: qmroHref Savage MO, Camacho-Hübner C, David A et al. (2007). Idiopathic short stature: will genetics influence the choice between GH and IGF-I therapy?. nameOfConference DOI: 10.1530/EJE-07-0292 QMRO: qmroHref Keegan CE, Hutz JE, Krause AS et al. (2007). Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes. nameOfConference DOI: 10.1111/j.1365-2265.2007.02855.x QMRO: qmroHref David A, Camacho-Hübner C, Bhangoo A et al. (2007). An intronic growth hormone receptor mutation causing activation of a pseudoexon is associated with a broad spectrum of growth hormone insensitivity phenotypes.. nameOfConference DOI: 10.1210/jc.2006-1527 QMRO: qmroHref Lin L, Hindmarsh PC, Metherell LA et al. (2007). Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia.. nameOfConference DOI: 10.1111/j.1365-2265.2006.02709.x QMRO: https://uat2-qmro.qmul.ac.uk/xmlui/handle/123456789/18035 Hwa V, Camacho-Hübner C, Little BM et al. (2007). Growth hormone insensitivity and severe short stature in siblings: a novel mutation at the exon 13-intron 13 junction of the STAT5b gene.. nameOfConference DOI: 10.1159/000101334 QMRO: qmroHref Metherell LA, Chan LF, Clark AJL (2006). The genetics of ACTH resistance syndromes.. nameOfConference DOI: 10.1016/j.beem.2006.09.002 QMRO: qmroHref Savage MO, Attie KM, David A et al. (2006). Endocrine assessment, molecular characterization and treatment of growth hormone insensitivity disorders.. nameOfConference DOI: 10.1038/ncpendmet0195 QMRO: qmroHref Clark AJL, Metherell LA (2006). Mechanisms of disease: the adrenocorticotropin receptor and disease.. nameOfConference DOI: 10.1038/ncpendmet0165 QMRO: qmroHref Maamra M, Milward A, Esfahani HZ et al. (2006). A 36 residues insertion in the dimerization domain of the growth hormone receptor results in defective trafficking rather than impaired signaling. nameOfConference DOI: 10.1677/joe.1.06252 QMRO: qmroHref Clark AJL, Metherell LA, Cheetham ME et al. (2005). Inherited ACTH insensitivity illuminates the mechanisms of ACTH action.. nameOfConference DOI: 10.1016/j.tem.2005.10.006 QMRO: qmroHref David A, Metherell LA, Clark AJL et al. (2005). Diagnostic and therapeutic advances in growth hormone insensitivity. nameOfConference DOI: 10.1016/j.ecl.2005.04.009 QMRO: qmroHref Clark JLA, Metherell LA, Naville D et al. (2005). Genetics of ACTH insensitivity syndromes.. nameOfConference DOI: 10.1016/s0003-4266(05)81757-3 QMRO: qmroHref Metherell LA, Chapple JP, Cooray S et al. (2005). Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2.. nameOfConference DOI: 10.1038/ng1501 QMRO: qmroHref Hui HNT, Metherell LA, Ng KL et al. (2005). Novel growth hormone receptor mutation in a Chinese patient with Laron syndrome. nameOfConference DOI: 10.1515/jpem.2005.18.2.209 QMRO: qmroHref CLARK AJL, Metherell LA, Huebner A et al. (2005). Genetics of ACTH insensitivity syndromes. nameOfConference DOI: 10.1016/S0003-4266(05)81757-3 QMRO: qmroHref Savage MO, Camacho-Hubner C, Walenkamp MJ et al. (2005). IGF-I deficiency: Lessons from human mutations. nameOfConference DOI: 10.1007/3-540-28902-x_8 QMRO: qmroHref Metherell LA, Savage MO, Dattani M et al. (2004). TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency.. nameOfConference DOI: 10.1530/eje.0.1510463 QMRO: qmroHref Milward A, Metherell L, Maamra M et al. (2004). Growth hormone (GH) insensitivity syndrome due to a GH receptor truncated after box1, resulting in isolated failure of STAT 5 signal transduction. nameOfConference DOI: 10.1210/jc.2003-031418 QMRO: qmroHref Metherell LA, Cooray S, Huebner A et al. (2004). Mutations in a novel gene, encoding a single transmembrane domain protein are associated with familial glucocorticoid deficiency type 2. nameOfConference DOI: 10.1081/ERC-20044136 QMRO: qmroHref Kola B, Korbonits M, Diaz-Cano S et al. (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.. nameOfConference DOI: 10.1046/j.1365-2265.2003.01851.x QMRO: qmroHref Swords F, Metherell L, Arola J et al. (2003). No Evidence for a Role for Mutations in the cAMP-Dependent Protein Kinase a Regulatory Subunit in Hyperfunctioning Adrenocortical Adenomas. nameOfConference DOI: 10.1042/cs104020p QMRO: qmroHref Savage MO, Blair JC, Burren CP et al. (2002). Phenotypic variability in growth hormone insensitivity.. nameOfConference DOI: doi QMRO: qmroHref Bjarnason R, Banerjee K, Rose SJ et al. (2002). Spontaneous growth hormone secretory characteristics in children with partial growth hormone insensitivity. nameOfConference DOI: 10.1046/j.1365-2265.2002.01607.x QMRO: qmroHref Elias LLK, Huebner A, Metherell LA et al. (2000). Tall stature in familial glucocorticoid deficiency. nameOfConference DOI: 10.1046/j.1365-2265.2000.01122.x QMRO: qmroHref Edwards KJ, Metherell LA, Yates M et al. (2001). Detection of rpoB mutations in Mycobacterium tuberculosis by biprobe analysis. nameOfConference DOI: 10.1128/JCM.39.9.3350-3352.2001 QMRO: qmroHref Metherell LA, Akker SA, Munroe PB et al. (2001). Pseudoexon activation as a novel mechanism for disease resulting in atypical growth-hormone insensitivity.. nameOfConference DOI: 10.1086/323266 QMRO: qmroHref Clark AJ, Metherell L, Swords FM et al. (2001). The molecular pathogenesis of ACTH insensitivity syndromes.. nameOfConference DOI: doi QMRO: qmroHref Savage MO, Burren CP, Blair JC et al. (2001). Growth hormone insensitivity: pathophysiology, diagnosis, clinical variation and future perspectives.. nameOfConference DOI: 10.1159/000063471 QMRO: qmroHref Clark AJ, Metherell L, Swords FM et al. (2001). The molecular pathogenesis of ACTH insensitivity syndromes.. nameOfConference DOI: doi QMRO: qmroHref CLODE FE, METHERELL LA, PITT TL (1999). NOSOCOMIAL ACQUISITION OF BURKHOLDERIA GLADIOLI IN PATIENTS WITH CYSTIC FIBROSIS. nameOfConference DOI: 10.1164/ajrccm.160.1.16011 QMRO: qmroHref Arnold C, Metherell L, Willshaw G et al. (1999). Predictive Fluorescent Amplified-Fragment Length Polymorphism Analysis of Escherichia coli: High-Resolution Typing Method with Phylogenetic Significance. nameOfConference DOI: 10.1128/jcm.37.5.1274-1279.1999 QMRO: qmroHref Metherell LA, Logan JMJ, Stanley J (1999). PCR–Enzyme-Linked Immunosorbent Assay for Detection and Identification of Campylobacter Species: Application to Isolates and Stool Samples. nameOfConference DOI: 10.1128/jcm.37.2.433-435.1999 QMRO: qmroHref Arnold C, Metherell L, Clewley JP et al. (1999). Predictive modelling of fluorescent AFLP: a new approach to the molecular epidemiology of E. coli. nameOfConference DOI: 10.1016/s0923-2508(99)80044-8 QMRO: qmroHref Saunders NA, Hallas G, Gaworzewska ET et al. (1997). PCR-enzyme-linked immunosorbent assay and sequencing as an alternative to serology for M-antigen typing of Streptococcus pyogenes. nameOfConference DOI: 10.1128/jcm.35.10.2689-2691.1997 QMRO: qmroHref Saunders NA, Metherell L, Patel S (1997). Investigation of an outbreak of multidrug resistant tuberculosis among renal patients using rpo B genes sequencing and IS6110 inverse PCR. nameOfConference DOI: 10.1016/s0163-4453(97)91512-7 QMRO: qmroHref Metherell LA, Hurst C, Bruce IJ (1997). Rapid, sensitive, microbial detection by gene amplification using restriction endonuclease target sequences. nameOfConference DOI: 10.1006/mcpr.1997.0120 QMRO: qmroHref Sponsors Medical Research Council Barts Charity CollaboratorsInternal Dr Helen Storr Dr Li Chan Dr Leo Guasti Prof Paul Chapple Prof Carol Shoulders External Professor Angela Huebner (Technical University of Dresden) Professor Roger Cox (MRC Harwell, Oxford) Professor Xingen Lei (Cornell University) Professor Paul Van Veldhoven (KU Leuven, Belgium) Dr John Achermann (UCL, London) Dr Christa Fluck (University of Bern, Switzerland) Back to top