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Publications:  Ms Louise Metherell

Maharaj A, Theodorou D, Banerjee I, Metherell LA, Prasad R, Wallace D(2020). A Sphingosine-1-Phosphate Lyase Mutation Associated With Congenital Nephrotic Syndrome and Multiple Endocrinopathy. Frontiers in Pediatrics vol. 8,
10.3389/fped.2020.00151
https://qmro.qmul.ac.uk/xmlui/handle/123456789/63870
Williams JL, Paudyal A, Awad S, Nicholson J, Grzesik D, Botta J, Meimaridou E, Maharaj AV et al.(2020). Mylk3 null C57BL/6N mice develop cardiomyopathy, whereas Nnt null C57BL/6J mice do not. Life science alliance vol. 3, (4)
10.26508/lsa.201900593
Kallali W, Gray E, Mehdi MZ, Lindsay R, Metherell LA, Buonocore F, Suntharalingham JP, Achermann JC et al.(2020). Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: The importance of early diagnosis. European Journal of Endocrinology vol. 182, (3) K15-K24.
10.1530/EJE-19-0696
https://qmro.qmul.ac.uk/xmlui/handle/123456789/63740
Chatterjee S, Cottrell E, Rose SJ, Mushtaq T, Maharaj AV, Williams J, Savage MO, Metherell LA et al.(2020). GHR gene transcript heterogeneity may explain phenotypic variability in GHR pseudoexon (6Ψ) patients. Endocrine Connections vol. 9, (3) 211-222.
10.1530/EC-20-0026
https://qmro.qmul.ac.uk/xmlui/handle/123456789/64639
Kallali W, Gray E, Mehdi MZ, Lindsay R, Metherell L, Buonocore F, Achermann J, Donaldson M (2019). CYP11A1 (side-chain cleavage enzyme) defect in three brothers causing glucocorticoid and mineralocorticoid deficiency and development of testicular adrenal rest testicular tumour. HORMONE RESEARCH IN PAEDIATRICS. vol. 91, 360-360.
Chatterjee S, Rose SJ, Mushtaq T, Cottrell E, Maharaj AV, Williams J, Savage MO, Metherell LA et al. (2019). GHR transcript heterogeneity may explain the phenotypic variability in patients with homozygous GHR pseudoexon (6 Psi) mutation. HORMONE RESEARCH IN PAEDIATRICS. vol. 91, 111-111.
Smith CJ, Maharaj AV, Prasad R, Hughes CR, Clark AJL, Chan LF, Metherell LA (2019). Genetics of Familial Glucocorticoid Deficiency over the Decades: Phenotypic Variability and Associated Features. HORMONE RESEARCH IN PAEDIATRICS. vol. 91, 108-109.
Maharaj A, Meimaridou E, Williams J, Guran T, Braslavsky D, Metherell L, Prasad R (2019). SGPL1 deficiency leads to downregulation of key enzymes within the steroidogenic pathway. HORMONE RESEARCH IN PAEDIATRICS. vol. 91, 61-61.
Novoselova TV, King PJ, Guasti L, Metherell LA, Clark AJL, Chan LF(2019). ACTH signalling and adrenal development: Lessons from mouse models. Endocrine Connections vol. 8, (7) R122-R130.
10.1530/EC-19-0190
https://qmro.qmul.ac.uk/xmlui/handle/123456789/59205
Maharaj A, Maudhoo A, Chan LF, Novoselova T, Prasad R, Metherell LA, Guasti L(2019). Isolated glucocorticoid deficiency: Genetic causes and animal models. Journal of Steroid Biochemistry and Molecular Biology vol. 189, 73-80.
10.1016/j.jsbmb.2019.02.012
https://qmro.qmul.ac.uk/xmlui/handle/123456789/59026
Storr HL, Chatterjee S, Metherell LA, Foley C, Rosenfeld RG, Backeljauw PF, Dauber A, Savage MO et al.(2019). Nonclassical GH insensitivity: Characterization of mild abnormalities of GH action. Endocrine Reviews vol. 40, (2) 476-505.
10.1210/er.2018-00146
https://qmro.qmul.ac.uk/xmlui/handle/123456789/45844
Maharaj A, Buonocore F, Meimaridou E, Ruiz-Babot G, Guasti L, Peng HM, Capper CP, Burgos-Tirado N et al.(2019). Predicted benign and synonymous variants in CYP11A1 cause primary adrenal insufficiency through missplicing. Journal of the Endocrine Society vol. 3, (1) 201-221.
10.1210/js.2018-00130
https://qmro.qmul.ac.uk/xmlui/handle/123456789/54757
Settas N, Persky R, Faucz FR, Sheanon N, Voutetakis A, Lodish M, Metherell LA, Stratakis CA(2019). SGPL1 deficiency: A rare cause of primary adrenal insufficiency. Journal of Clinical Endocrinology and Metabolism vol. 104, (5) 1484-1490.
10.1210/jc.2018-02238
https://qmro.qmul.ac.uk/xmlui/handle/123456789/54831
Klammt J, Neumann D, Gevers EF, Andrew SF, Schwartz ID, Rockstroh D, Colombo R, Sanchez MA et al.(2018). Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation. Nature Communications vol. 9, (1)
10.1038/s41467-018-04521-0
https://qmro.qmul.ac.uk/xmlui/handle/123456789/39923
Novoselova TV, Hussain M, King PJ, Guasti L, Metherell LA, Charalambous M, Clark AJL, Chan LF(2018). MRAP deficiency impairs adrenal progenitor cell differentiation and gland zonation. FASEB Journal vol. 32, (11) 6186-6196.
10.1096/fj.201701274RR
https://qmro.qmul.ac.uk/xmlui/handle/123456789/39467
Da Costa AR, Qarin S, Bradshaw TY, Watson D, Prasad R, Barnes MR, Metherell LA, Chapple JP et al. (2018). A Novel Stem Cell Model for the Triple a Syndrome. HORMONE RESEARCH IN PAEDIATRICS. Conference: 57th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE) (Athens, Greece) from: 27/09/2018 to: 29/09/2018, vol. 90, 29-29.
10.1159/000492307
https://qmro.qmul.ac.uk/xmlui/handle/123456789/64999
Cottrell E, Maharaj A, Chatterjee S, Grandone A, Cirillo G, Miraglia del Giudice E, Metherell LA, Storr HL (2018). A Second Growth Hormone Receptor Pseudoexon Mutation Causing Frameshift and Severe Postnatal Growth Failure. HORMONE RESEARCH IN PAEDIATRICS. Conference: European Society for Paediatric Endocrinology vol. 90, 637-638.
https://qmro.qmul.ac.uk/xmlui/handle/123456789/57816
Cottrell E, Chatterjee S, Moore G, Ishida M, Greening J, Wright N, Bossowski A, Deeb A et al. (2018). Patients with GH Insensitivity and IGF-1 Resistance Harbour Copy Number Variants Causing a Silver-Russell-Like Phenotype. HORMONE RESEARCH IN PAEDIATRICS. Conference: European Society for Paediatric Endocrinology vol. 90, 105-105.
https://qmro.qmul.ac.uk/xmlui/handle/123456789/57822
Maharaj A, Wallace D, Banerjee I, Prasad R, Metherell L (2018). SGPL1 Missense Mutation in an Infant with Primary Adrenal Insufficiency (PAI), Congenital Nephrotic Syndrome, Primary Hypothyroidism and Gonadal Failure. HORMONE RESEARCH IN PAEDIATRICS. Conference: 57th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE) from: 27/09/2018 to: 29/09/2018, vol. 90, 477-478.
https://qmro.qmul.ac.uk/xmlui/handle/123456789/64684
Maharaj A, Bradshaw T, Williams J, Guran T, Braslavsky D, Bruegger B, Metherell L, Prasad R (2018). Sphingosine-1-Phosphate Lyase (SGPL1) Deficiency Is Associated with Mitochondrial Dysfunction. HORMONE RESEARCH IN PAEDIATRICS. Conference: 57th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE) (Athens, Greece) from: 27/09/2018 to: 29/09/2018, vol. 90, 78-78.
Howard SR, Oleari R, Poliandri A, Chantzara V, Fantin A, Ruiz-Babot G, Metherell LA, Cabrera CP et al.(2018). HS6ST1 Insufficiency Causes Self-Limited Delayed Puberty in Contrast with Other GnRH Deficiency Genes. Journal of Clinical Endocrinology and Metabolism vol. 103, (9) 3420-3429.
10.1210/jc.2018-00646
https://qmro.qmul.ac.uk/xmlui/handle/123456789/42223
Chortis V, Taylor AE, Doig CL, Walsh MD, Meimaridou E, Jenkinson C, Rodriguez-Blanco G, Ronchi CL et al.(2018). Nicotinamide nucleotide transhydrogenase as a novel treatment target in adrenocortical carcinoma. Endocrinology vol. 159, (8) 2836-2849.
10.1210/en.2018-00014
https://qmro.qmul.ac.uk/xmlui/handle/123456789/54841
Chatterjee S, Shapiro L, Rose SJ, Mushtaq T, Clayton PE, Ten SB, Bhangoo A, Kumbattae U et al.(2018). Phenotypic spectrum and responses to recombinant human IGF1 (rhIGF1) therapy in patients with homozygous intronic pseudoexon growth hormone receptor mutation. European Journal of Endocrinology vol. 178, (5) 481-489.
10.1530/EJE-18-0042
https://qmro.qmul.ac.uk/xmlui/handle/123456789/36453
Ruiz-Babot G, Balyura M, Hadjidemetriou I, Ajodha SJ, Taylor DR, Ghataore L, Taylor NF, Schubert U et al.(2018). Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells. Cell Reports vol. 22, (5) 1236-1249.
10.1016/j.celrep.2018.01.003
https://qmro.qmul.ac.uk/xmlui/handle/123456789/32031
Meimaridou E, Goldsworthy M, Chortis V, Fragouli E, Foster PA, Arlt W, Cox R, Metherell LA(2018). NNT is a key regulator of adrenal redox homeostasis and steroidogenesis in male mice. Journal of Endocrinology vol. 236, (1) 13-28.
10.1530/JOE-16-0638
https://qmro.qmul.ac.uk/xmlui/handle/123456789/31334
Shapiro L, Chatterjee S, Ramadan DG, Davies KM, Savage MO, Metherell LA, 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. European Journal of Endocrinology vol. 177, (6) 485-501.
10.1530/EJE-17-0453
https://qmro.qmul.ac.uk/xmlui/handle/123456789/26028
Salvatori R, Radian S, Diekmann Y, Iacovazzo D, David A, Gabrovska P, Grassi G, Bussell A-M 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. Eur J Endocrinol vol. 177, (3) 257-266.
10.1530/EJE-17-0293
https://qmro.qmul.ac.uk/xmlui/handle/123456789/25046
Wacharasindhu S, Panamonta O, Shapiro L, Metherell LA, Savage MO, Storr HL(2017). Young Thai sisters with growth hormone insensitivity or Laron syndrome. Asian Biomedicine vol. 11, (2) 167-170.
10.5372/1905-7415.1102.549
https://qmro.qmul.ac.uk/xmlui/handle/123456789/40303
Vairamani K, Merjaneh L, Casano-Sancho P, Sanli ME, David A, Metherell LA, Savage MO, Del Pozo JS et al.(2017). Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I Deficiency. J Endocr Soc vol. 1, (4) 345-358.
10.1210/js.2016-1119
https://qmro.qmul.ac.uk/xmlui/handle/123456789/32148
METHERELL LA, Prasad R, Storr HL, Guasti L, Maharaj A, Meimaridou E, Hadjidemetriou I(2017). Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome. Journal of Clinical Investigation
10.1172/JCI90171
https://qmro.qmul.ac.uk/xmlui/handle/123456789/22389
Vairamani K, Merjaneh L, Casano-Sancho P, Sanli ME, David A, Metherell LA, Savage MO, Del Pozo JS et al. (2017). NOVEL DOMINANT-NEGATIVE GH RECEPTOR MUTATIONS EXPANDS THE SPECTRUM OF GHI AND IGF-I DEFICIENCY. HORMONE RESEARCH IN PAEDIATRICS. vol. 88, 32-32.
Chatterjee S, Shapiro L, Rose S, Mushtaq T, Clayton P, Ten S, Bhangoo APS, Kumbattae U et al. (2017). PHENOTYPIC SPECTRUM AND RESPONSES TO RECOMBINANT HUMAN IGF-I (RHIGF-I) THERAPY IN PATIENTS WITH HOMOZYGOUS GH RECEPTOR PSEUDOEXON DEFECTS. HORMONE RESEARCH IN PAEDIATRICS. vol. 88, 290-290.
METHERELL LA (2016). Cytochrome p450 side chain cleavage enzyme (CYP11A1) mutations: Phenotypic variability and identification of p.E314K as a recurrent, pathogenic variant. Conference: 44th Meeting of the British Society for Paediatric Endocrinology and Diabetes
10.1530/endoabs.45.OC5.6
https://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). Conference: 44th Meeting of the British Society for Paediatric Endocrinology and Diabetes
10.1530/endoabs.45.OC6.6
https://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. Conference: Society for Endocrinology BES 2016 (Brighton)
10.1530/endoabs.44.OC1.1
https://qmro.qmul.ac.uk/xmlui/handle/123456789/50903
Metherell L, Guerra-Assuncao JA, Sternberg M, David A. Structural analysis of nicotinamide nucleotide transhydrogenase (NNT) genetic variants causing adrenal disorders. Endocrine Abstracts.
10.1530/endoabs.44.p27
Metherell LA, Guerra-Assunção JA, Sternberg MJ, David A(2016). Three-Dimensional Model of Human Nicotinamide Nucleotide Transhydrogenase (NNT) and Sequence-Structure Analysis of its Disease-Causing Variations. Human Mutation vol. 37, (10) 1074-1084.
10.1002/humu.23046
https://qmro.qmul.ac.uk/xmlui/handle/123456789/15058
Chortis V, Taylor AE, Doig CL, Meimaridou E, Metherell LA, Arlt W, Foster PA. Stressed to death - antioxidant pathway targeting as a novel therapeutic approach in adrenocortical carcinoma. Endocrine Abstracts.
10.1530/endoabs.41.oc9.3
https://qmro.qmul.ac.uk/xmlui/handle/123456789/51063
HOWARD SR, Guasti L, Ruiz-Babot G, Mancini A, David A, Storr H, Metherell LA, Sternberg MJE et al.(2016). IGSF10 mutations dysregulate gonadotropin‐releasing hormone neuronal migration resulting in delayed puberty. EMBO Molecular Medicine vol. 8, (6) 626-42.
10.15252/emmm.201606250
https://qmro.qmul.ac.uk/xmlui/handle/123456789/18622
Howard S, Guasti L, Ruiz-Babot G, Mancini A, David A, Storr H, Metherell L, Sternberg M et al. (2016). Role of IGSF10 mutations in self-limited delayed puberty. LANCET. vol. 387, 14-14.
Braslavsky D, Barbagelata E, Prasad R, Cassinelli H, Maharaj A, Piantanida JJ, Wainberg E, Vallejo G et al. (2016). Mutation in SGPL1, Causing Sphingosine-1-Phosphate Lyase Deficiency, Leads to a Novel Form of Primary Adrenal Insufficiency with Steroid Resistant Nephrotic Syndrome. HORMONE RESEARCH IN PAEDIATRICS. vol. 86, 1-2.
Tsai SL, Green J, Metherell LA, Curtis F, Fernandez B, Healey A, Curtis J(2016). Primary adrenocortical insufficiency case series: Genetic etiologies more common than expected. Hormone Research in Paediatrics vol. 85, (1) 35-42.
10.1159/000441843
Shapiro L, Savage M, Davies K, Metherell L, Storr H (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). HORMONE RESEARCH IN PAEDIATRICS. vol. 86, 47-47.
https://qmro.qmul.ac.uk/xmlui/handle/123456789/24789
Storr HL, Prasad R, Temple IK, Metherell LA, Savage MO, Walker JM(2015). Heterogeneity of the growth phenotype and birth size in acid-labile subunit (ALS) deficiency. J Endocrinol Invest vol. 38, (4) 407-412.
10.1007/s40618-014-0195-1
Storr HL, Dunkel L, Kowalczyk J, Savage MO, Metherell LA(2015). Genetic characterisation of a cohort of children clinically labelled as GH or IGF1 insensitive: diagnostic value of serum IGF1 and height at presentation. Eur J Endocrinol vol. 172, (2) 151-161.
10.1530/EJE-14-0541
Novoselova TV, Rath SR, Carpenter K, Pachter N, Dickinson JE, Price G, Chan LF, Choong CS et al.(2015). NNT Pseudoexon Activation as a Novel Mechanism for Disease in Two Siblings With Familial Glucocorticoid Deficiency. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM vol. 100, (2) E350-E354.
10.1210/jc.2014-3641
https://qmro.qmul.ac.uk/xmlui/handle/123456789/6687
Chan LF, Campbell DC, Novoselova TV, Clark AJL, Metherell LA(2015). Whole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in Children. Front Endocrinol (Lausanne) vol. 6,
10.3389/fendo.2015.00113
https://qmro.qmul.ac.uk/xmlui/handle/123456789/10570
Prasad R, Chan LF, Hughes CR, Kaski JP, Kowalczyk JC, Savage MO, Peters CJ, Nathwani N et al.(2014). Thioredoxin Reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD). J Clin Endocrinol Metab vol. 99, (8) E1556-E1563.
10.1210/jc.2013-3844
Prasad R, Kowalczyk JC, Meimaridou E, Storr HL, Metherell LA(2014). Oxidative stress and adrenocortical insufficiency. J Endocrinol vol. 221, (3) R63-R73.
10.1530/JOE-13-0346
https://qmro.qmul.ac.uk/xmlui/handle/123456789/18036
Högler W, Martin DD, Crabtree N, Nightingale P, Tomlinson J, Metherell L, Rosenfeld R, Hwa V 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. J Clin Endocrinol Metab vol. 99, (4) E703-E712.
10.1210/jc.2013-3718
Poukoulidou T, Kowalczyk J, Metherell L, De Schepper J, Maes M(2014). A Novel Homozygous Mutation of the IGFALS Gene in a Female Adolescent: Indirect Evidence for a Contributing Role of the Circulating IGF-I Pool in the Pubertal Growth Spurt. HORMONE RESEARCH IN PAEDIATRICS vol. 81, (6) 422-427.
10.1159/000358329
Habeb AM, Hughes CR, Al-Arabi R, Al-Muhamadi A, Clark AJL, Metherell LA(2013). Familial glucocorticoid deficiency: a diagnostic challenge during acute illness. EUROPEAN JOURNAL OF PEDIATRICS vol. 172, (10) 1407-1410.
10.1007/s00431-013-2044-1
Prasad R, Metherell LA, Clark AJ, Storr HL(2013). Deficiency of ALADIN impairs redox homeostasis in human adrenal cells and inhibits steroidogenesis. Endocrinology vol. 154, (9) 3209-3218.
10.1210/en.2013-1241
Meimaridou E, Prasad R, Kowalczyk JC, Clark AJL, Storr HL, Metherell LA(2013). Genome sequencing reveals mitochondrial thiol systems are essential for antioxidant defence in human adrenal glands. FREE RADICAL BIOLOGY AND MEDICINE vol. 65, S38-S38.
10.1016/j.freeradbiomed.2013.08.052
Meimaridou E, Hughes CR, Kowalczyk J, Guasti L, Chapple JP, King PJ, Chan LF, Clark AJL et al.(2013). Familial glucocorticoid deficiency: New genes and mechanisms. Molecular and Cellular Endocrinology vol. 371, (1-2) 195-200.
10.1016/j.mce.2012.12.010
Meimaridou E, Hughes CR, Kowalczyk J, Guasti L, Chapple JP, King PJ, Chan LF, Clark AJL et al.(2013). Familial glucocorticoid deficiency: New genes and mechanisms. Mol Cell Endocrinol vol. 371, (1-2) 195-200.
10.1016/j.mce.2012.12.010
Meimaridou E, Hughes CR, Kowalczyk J, Chan LF, Clark AJL, Metherell LA(2013). ACTH resistance: genes and mechanisms. Endocr Dev vol. 24, 57-66.
10.1159/000342504
Yates R, Katugampola H, Cavlan D, Cogger K, Meimaridou E, Hughes C, Metherell L, Guasti L et al.(2013). Adrenocortical development, maintenance, and disease. Curr Top Dev Biol vol. 106, 239-312.
10.1016/B978-0-12-416021-7.00007-9
Kowalczyk J, Meimaridou E, Guasti L, Lei XG, Clark AJL, Metherell LA (2012). A homozygous glutathione peroxidase 1 mutation, p. Arg130-Leu133del, in a patient with familial glucocorticoid deficiency. FREE RADICAL BIOLOGY AND MEDICINE. vol. 53, S220-S221.
10.1016/j.freeradbiomed.2012.08.462
Meimaridou E, Kowalczyk J, Guasti L, Hughes CR, Wagner F, Frommolt P, Nürnberg P, Mann NP et al.(2012). Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency. Nat Genet vol. 44, (7) 740-742.
10.1038/ng.2299
https://qmro.qmul.ac.uk/xmlui/handle/123456789/18037
Turan S, Hughes C, Atay Z, Guran T, Haliloglu B, Clark AJL, Bereket A, Metherell LA(2012). An atypical case of familial glucocorticoid deficiency without pigmentation caused by coexistent homozygous mutations in MC2R (T152K) and MC1R (R160W). J Clin Endocrinol Metab vol. 97, (5) E771-E774.
10.1210/jc.2011-2414
Hughes CR, Guasti L, Meimaridou E, Chuang C-H, Schimenti JC, King PJ, Costigan C, Clark AJL et al.(2012). MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans. JOURNAL OF CLINICAL INVESTIGATION vol. 122, (3) 814-820.
10.1172/JCI60224
Clark AJL, Storr HL, Meimaridou E, Metherell AL (2012). Oxidative Stress as a Disease Mechanism in Inherited Adrenal Failure. JOURNAL OF PATHOLOGY. vol. 226,
Jain V, Metherell LA, David A, Sharma R, Sharma PK, Clark AJL, Chan LF(2011). Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory protein. Eur J Endocrinol vol. 165, (6) 987-991.
10.1530/EJE-11-0581
https://qmro.qmul.ac.uk/xmlui/handle/123456789/18033
McEachern R, Drouin J, Metherell L, Huot C, Van Vliet G, Deal C(2011). Severe cortisol deficiency associated with reversible growth hormone deficiency in two infants: what is the link?. J Clin Endocrinol Metab vol. 96, (9) 2670-2674.
10.1210/jc.2011-0129
David A, Hwa V, Metherell LA, Netchine I, Camacho-Hübner C, Clark AJL, Rosenfeld RG, Savage MO(2011). Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity. Endocr Rev vol. 32, (4) 472-497.
10.1210/er.2010-0023
Chan LF, Metherell LA, Clark AJL(2011). Effects of melanocortins on adrenal gland physiology. EUR J PHARMACOL vol. 660, (1) 171-180.
10.1016/j.ejphar.2010.11.041
Savage MO, Hwa V, David A, Rosenfeld RG, Metherell LA(2011). Genetic Defects in the Growth Hormone-IGF-I Axis Causing Growth Hormone Insensitivity and Impaired Linear Growth. Front Endocrinol (Lausanne) vol. 2,
10.3389/fendo.2011.00095
https://qmro.qmul.ac.uk/xmlui/handle/123456789/12236
Hughes CR, Chung TT, Habeb AM, Kelestimur F, Clark AJL, Metherell LA(2010). Missense mutations in the melanocortin 2 receptor accessory protein that lead to late onset familial glucocorticoid deficiency type 2. J Clin Endocrinol Metab vol. 95, (7) 3497-3501.
10.1210/jc.2009-2731
David A, Srirangalingam U, Metherell LA, Khoo B, Clark AJL(2010). Repair of aberrant splicing in growth hormone receptor by antisense oligonucleotides targeting the splice sites of a pseudoexon. J Clin Endocrinol Metab vol. 95, (7) 3542-3546.
10.1210/jc.2009-1968
Hughes C, Chung TT, Clark AJ, Metherell L(2010). FUNCTIONAL CHARACTERISATION OF A MISSENSE MUTATION OF MRAP LEADING TO FAMILIAL GLUCOCORTICOID DEFICIENCY. IRISH J MED SCI vol. 179, S263-S263.
Moyes VJ, Walker DM, Owusu-Antwi S, Maher KT, Metherell L, Akker SA, Monson JP, Clark AJL et al.(2010). d3-GHR genotype does not explain heterogeneity in GH responsiveness in hypopituitary adults. Clin Endocrinol (Oxf) vol. 72, (6) 807-813.
10.1111/j.1365-2265.2009.03768.x
Chung T-TLL, Chan LF, Metherell LA, Clark AJL(2010). Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2. Clin Endocrinol (Oxf) vol. 72, (5) 589-594.
10.1111/j.1365-2265.2009.03663.x
https://qmro.qmul.ac.uk/xmlui/handle/123456789/12230
Dias RP, Chan LF, Metherell LA, Pearce SHS, Clark AJL(2010). Isolated Addison's disease is unlikely to be caused by mutations in MC2R, MRAP or STAR, three genes responsible for familial glucocorticoid deficiency. Eur J Endocrinol vol. 162, (2) 357-359.
10.1530/EJE-09-0720
https://qmro.qmul.ac.uk/xmlui/handle/123456789/18039
David A, Rose SJ, Miraki-Moud F, Metherell LA, Savage MO, Clark AJL, Camacho-Hübner C(2010). Acid-labile subunit deficiency and growth failure: description of two novel cases. Horm Res Paediatr vol. 73, (5) 328-334.
10.1159/000308164
Storr HL, Metherell LA, Dias R, Savage MO, Rasmussen AK, Clark AJL, Main KM(2010). Familial Isolated Primary Pigmented Nodular Adrenocortical Disease Associated with a Novel Low Penetrance PRKAR1A Gene Splice Site Mutation. HORM RES PAEDIAT vol. 73, (2) 115-119.
10.1159/000277629
Storr HL, Metherell LA, Dias R, Savage MO, Rasmussen AK, Clark AJL, Main KM(2010). Familial isolated primary pigmented nodular adrenocortical disease associated with a novel low penetrance PRKAR1A gene splice site mutation. Horm Res Paediatr vol. 73, (2) 115-119.
10.1159/000277629
David A, Miraki-Moud F, Shaw NJ, Savage MO, Clark AJL, Metherell LA(2010). Identification and characterisation of a novel GHR defect disrupting the polypyrimidine tract and resulting in GH insensitivity. Eur J Endocrinol vol. 162, (1) 37-42.
10.1530/EJE-09-0583
https://qmro.qmul.ac.uk/xmlui/handle/123456789/18038
Metherell LA, Naville D, Halaby G, Begeot M, Huebner A, Nürnberg G, Nürnberg P, Green J et al.(2009). Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency. J Clin Endocrinol Metab vol. 94, (10) 3865-3871.
10.1210/jc.2009-0467
Chan LF, Metherell LA, Krude H, Ball C, O'Riordan SMP, Costigan C, Lynch SA, Savage MO et al.(2009). Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiency. Clin Endocrinol (Oxf) vol. 71, (2) 171-175.
10.1111/j.1365-2265.2008.03511.x
https://qmro.qmul.ac.uk/xmlui/handle/123456789/18040
Milward A, Metherell L, Maamra M, Barahona MJ, Wilkinson IR, Camacho-Huebner C, Savage MO, Bidlingmaier CM 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). JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM vol. 94, (7) 2674-2674.
Milward A, Metherell L, Maamra M, Barahona MJ, Wilkinson IR, Camacho-Hübner C, Savage MO, Bidlingmaier CM 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)). 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 et al.(2009). MRAP and MRAP2 are bidirectional regulators of the melanocortin receptor family. Proc Natl Acad Sci U S A vol. 106, (15) 6146-6151.
10.1073/pnas.0809918106
Chan LF, Chung T-T, Massoud AF, Metherell LA, Clark AJL(2009). Functional consequence of a novel Y129C mutation in a patient with two contradictory melanocortin-2-receptor mutations. Eur J Endocrinol vol. 160, (4) 705-710.
10.1530/EJE-08-0636
https://qmro.qmul.ac.uk/xmlui/handle/123456789/18034
Clark AJL, Chan LF, Chung T-T, Metherell LA(2009). The genetics of familial glucocorticoid deficiency. Best Pract Res Clin Endocrinol Metab vol. 23, (2) 159-165.
10.1016/j.beem.2008.09.006
Cooray SN, Chan L, Webb TR, Metherell L, Clark AJL(2009). Accessory proteins are vital for the functional expression of certain G protein-coupled receptors. Mol Cell Endocrinol vol. 300, (1-2) 17-24.
10.1016/j.mce.2008.10.004
Chan LF, David A, Jain V, Clark AJL, Metherell LA(2009). A novel splice mutation (IVSds3+3insTA) in the melanocortin 2 receptor accessory protein that leads to skipping of exon 3. HORM RES vol. 72, 70-70.
Hughes CR, Chung TT, Habeb AM, Clark AJ, 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.
Metherell LA, Chung TT, Chan LF, Clark AJL(2009). Genotype:phenotype relationships in familial glucocorticoid deficiency types 1 and 2. HORM RES vol. 72, 211-211.
Savage MO, David A, Camacho-Hubner C, Metherell LA, Clark AJL(2009). Phenotypic aspects of growth hormone- and IGF-I-resistant syndromes. Endocr Dev vol. 14, 143-150.
10.1159/000207483
Chung TT, Webb TR, Chan LF, Cooray SN, Metherell LA, King PJ, Chapple JP, Clark AJL(2008). The majority of adrenocorticotropin receptor (melanocortin 2 receptor) mutations found in familial glucocorticoid deficiency type 1 lead to defective trafficking of the receptor to the cell surface. J Clin Endocrinol Metab vol. 93, (12) 4948-4954.
10.1210/jc.2008-1744
David A, Rose S, Miraki-Moud F, Metherell L, Clark A, Savage M, Camacho-Hubner C(2008). Acid-labile subunit gene mutations: Clinical, biochemical and molecular study in two unrelated families. HORM RES vol. 70, 31-31.
Cooray SN, Chan L, Metherell L, Storr H, Clark AJL(2008). Adrenocorticotropin resistance syndromes. Endocr Dev vol. 13, 99-116.
10.1159/000134828
Chan LF, Clark AJL, Metherell LA(2008). Familial glucocorticoid deficiency: advances in the molecular understanding of ACTH action. Horm Res vol. 69, (2) 75-82.
10.1159/000111810
Chan L, Chung TT, Massoud A, Metherell L, Clark A(2008). Functional consequence of two opposing MC2R mutations in a child with severe FGD phenotype. HORM RES vol. 70, 23-23.
Rumié H, Metherell LA, Clark AJL, Beauloye V, Maes M(2007). Clinical and biological phenotype of a patient with familial glucocorticoid deficiency type 2 caused by a mutation of melanocortin 2 receptor accessory protein. Eur J Endocrinol vol. 157, (4) 539-542.
10.1530/EJE-07-0242
Vallette-Kasic S, Couture C, Balsalobre A, Gauthier Y, Metherell L, Dattani M, Drouin J(2007). The TPIT gene mutation M86R associated with isolated adrenocorticotropin deficiency interferes with protein: Protein interactions. J CLIN ENDOCR METAB vol. 92, (10) 3991-3999.
10.1210/jc.2007-0284
Savage MO, Camacho-Hübner C, David A, Metherell LA, Hwa V, Rosenfeld RG, Clark AJL(2007). Idiopathic short stature: will genetics influence the choice between GH and IGF-I therapy?. Eur J Endocrinol vol. 157 Suppl 1, S33-S37.
10.1530/EJE-07-0292
Keegan CE, Hutz JE, Krause AS, Koehler K, Metherell LA, Boikos S, Stergiopoulos S, Clark AJL et al.(2007). Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes. CLIN ENDOCRINOL vol. 67, (2) 168-174.
10.1111/j.1365-2265.2007.02855.x
David A, Camacho-Hübner C, Bhangoo A, Rose SJ, Miraki-Moud F, Akker SA, Butler GE, Ten S 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. J Clin Endocrinol Metab vol. 92, (2) 655-659.
10.1210/jc.2006-1527
Lin L, Hindmarsh PC, Metherell LA, Alzyoud M, Al-Ali M, Brain CE, Clark AJL, Dattani MT 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. Clin Endocrinol (Oxf) vol. 66, (2) 205-210.
10.1111/j.1365-2265.2006.02709.x
https://qmro.qmul.ac.uk/xmlui/handle/123456789/18035
Hwa V, Camacho-Hübner C, Little BM, David A, Metherell LA, El-Khatib N, Savage MO, Rosenfeld RG(2007). Growth hormone insensitivity and severe short stature in siblings: a novel mutation at the exon 13-intron 13 junction of the STAT5b gene. Horm Res vol. 68, (5) 218-224.
10.1159/000101334
Metherell LA, Chan LF, Clark AJL(2006). The genetics of ACTH resistance syndromes. Best Pract Res Clin Endocrinol Metab vol. 20, (4) 547-560.
10.1016/j.beem.2006.09.002
Savage MO, Attie KM, David A, Metherell LA, Clark AJL, Camacho-Hübner C(2006). Endocrine assessment, molecular characterization and treatment of growth hormone insensitivity disorders. Nat Clin Pract Endocrinol Metab vol. 2, (7) 395-407.
10.1038/ncpendmet0195
Clark AJL, Metherell LA(2006). Mechanisms of disease: the adrenocorticotropin receptor and disease. Nat Clin Pract Endocrinol Metab vol. 2, (5) 282-290.
10.1038/ncpendmet0165
Maamra M, Milward A, Esfahani HZ, Abbott LP, Metherell LA, Savage MO, Clark AJL, Ross RJM(2006). A 36 residues insertion in the dimerization domain of the growth hormone receptor results in defective trafficking rather than impaired signaling. J ENDOCRINOL vol. 188, (2) 251-261.
10.1677/joe.1.06252
Clark AJL, Metherell LA, Cheetham ME, Huebner A(2005). Inherited ACTH insensitivity illuminates the mechanisms of ACTH action. Trends Endocrinol Metab vol. 16, (10) 451-457.
10.1016/j.tem.2005.10.006
David A, Metherell LA, Clark AJL, Camacho-Hubner C, Savage MO(2005). Diagnostic and therapeutic advances in growth hormone insensitivity. ENDOCRIN METAB CLIN vol. 34, (3) 581-+.
10.1016/j.ecl.2005.04.009
Clark JLA, Metherell LA, Naville D, Begeot M, Huebner A (2005). Genetics of ACTH insensitivity syndromes. Ann Endocrinol (Paris). vol. 66, 247-249.
10.1016/s0003-4266(05)81757-3
Metherell LA, Chapple JP, Cooray S, David A, Becker C, Rüschendorf F, Naville D, Begeot M et al.(2005). Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. Nat Genet vol. 37, (2) 166-170.
10.1038/ng1501
Hui HNT, Metherell LA, Ng KL, Savage MO, Camacho-Hubner C, Clark AJL(2005). Novel growth hormone receptor mutation in a Chinese patient with Laron syndrome. J PEDIATR ENDOCR MET vol. 18, (2) 209-213.
10.1515/jpem.2005.18.2.209
CLARK AJL, Metherell LA, Huebner A, Begeot M, Naville D(2005). Genetics of ACTH insensitivity syndromes. Annals of Endocrinology vol. 66, 247-249.
10.1016/S0003-4266(05)81757-3
Savage MO, Camacho-Hubner C, Walenkamp MJ, Metherell LA, David A, Pereira LA, Denley A, Clark AJL et al. (2005). IGF-I deficiency: Lessons from human mutations. Deciphering Growth. Editors: Carel, JC, Kelly, PA, Christen, Y, 95-105.
10.1007/3-540-28902-X_8
Metherell LA, Savage MO, Dattani M, Walker J, Clayton PE, Farooqi IS, Clark AJL(2004). TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency. Eur J Endocrinol vol. 151, (4) 463-465.
10.1530/eje.0.1510463
Milward A, Metherell L, Maamra M, Barahona MJ, Wilkinson IR, Camacho-Hubner C, Savage MO, Bidlingmaier CM 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. J CLIN ENDOCR METAB vol. 89, (3) 1259-1266.
10.1210/jc.2003-031418
Metherell LA, Cooray S, Huebner A, Ruschendorf F, Naville D, Begeot M, Clark AJL (2004). Mutations in a novel gene, encoding a single transmembrane domain protein are associated with familial glucocorticoid deficiency type 2. ENDOCRINE RESEARCH. vol. 30, 889-890.
10.1081/ERC-20044136
Kola B, Korbonits M, Diaz-Cano S, Kaltsas G, Morris DG, Jordan S, Metherell L, Powell M 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. Clin Endocrinol (Oxf) vol. 59, (3) 328-338.
10.1046/j.1365-2265.2003.01851.x
Savage MO, Blair JC, Burren CP, Camacho-Hübner C, Woods KA, Metherell L, Clark AJL (2002). Phenotypic variability in growth hormone insensitivity. J Pediatr Endocrinol Metab. vol. 15 Suppl 5, 1449-1450.
Bjarnason R, Banerjee K, Rose SJ, Rosberg S, Metherell L, Clark AJL, Albertsson-Wikland K, Savage MO(2002). Spontaneous growth hormone secretory characteristics in children with partial growth hormone insensitivity. CLIN ENDOCRINOL vol. 57, (3) 357-361.
10.1046/j.1365-2265.2002.01607.x
Edwards KJ, Metherell LA, Yates M, Saunders NA(2001). Detection of rpoB mutations in Mycobacterium tuberculosis by biprobe analysis. J CLIN MICROBIOL vol. 39, (9) 3350-3352.
10.1128/jcm.39.9.3350-3352.2001
Metherell LA, Akker SA, Munroe PB, Rose SJ, Caulfield M, Savage MO, Chew SL, Clark AJ(2001). Pseudoexon activation as a novel mechanism for disease resulting in atypical growth-hormone insensitivity. Am J Hum Genet vol. 69, (3) 641-646.
10.1086/323266
Clark AJ, Metherell L, Swords FM, Elias LL(2001). The molecular pathogenesis of ACTH insensitivity syndromes. Ann Endocrinol (Paris) vol. 62, (2) 207-211.
Savage MO, Burren CP, Blair JC, Woods KA, Metherell L, Clark AJ, Camacho-Hübner C (2001). Growth hormone insensitivity: pathophysiology, diagnosis, clinical variation and future perspectives. Horm Res. vol. 55 Suppl 2, 32-35.
10.1159/000063471
Clark AJ, Metherell L, Swords FM, Elias LL(2001). The molecular pathogenesis of ACTH insensitivity syndromes. Annales d'endocrinologie vol. 62, (2) 207-211.
Elias LLK, Huebner A, Metherell LA, Canas A, Warne GL, Manca Bitti ML, Cianfarani S, Clayton PE et al.(2000). Tall stature in familial glucocorticoid deficiency. Clinical Endocrinology vol. 53, (4) 423-430.
10.1046/j.1365-2265.2000.01122.x
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. Journal of Clinical Microbiology vol. 37, (2) 433-435.
10.1128/JCM.37.2.433-435.1999
Clode FE, Metherell LA, Pitt TL, Wilsher ML, Kolbe J, Morris AJ, Welch DF, Vandamme PAR(1999). Nosocomial acquisition of Burkholderia gladioli in patients with cystic fibrosis (multiple letters). American Journal of Respiratory and Critical Care Medicine vol. 160, (1) 374-375.
10.1164/ajrccm.160.1.16011
Arnold C, Metherell L, Willshaw G, Maggs A, Stanley J(1999). Predictive fluorescent amplified-fragment length polymorphism analysis of Escherichia coli: High-resolution typing method with phylogenetic significance. Journal of Clinical Microbiology vol. 37, (5) 1274-1279.
10.1128/jcm.37.5.1274-1279.1999
Arnold C, Metherell L, Clewley JP, Stanley J(1999). Predictive modelling of fluorescent AFLP: A new approach to the molecular epidemiology of E. coli. Research in Microbiology vol. 150, (1) 33-44.
10.1016/S0923-2508(99)80044-8
Saunders NA, Metherell L, Patel S(1997). Investigation of an outbreak of multidrug resistant tuberculosis among renal patients using rpo B gene sequencing and IS6110 inverse PCR. Journal of Infection vol. 35, (2) 129-133.
10.1016/S0163-4453(97)91512-7
Saunders NA, Hallas G, Gaworzewska ET, Metherell L, Efstratiou A, Hookey JV, George RC(1997). PCR-enzyme-linked immunosorbent assay and sequencing as an alternative to serology for M-antigen typing of Streptococcus pyogenes. Journal of Clinical Microbiology vol. 35, (10) 2689-2691.
10.1128/jcm.35.10.2689-2691.1997
Metherell LA, Hurst C, Bruce IJ(1997). Rapid, sensitive, microbial detection by gene amplification using restriction endonuclease target sequences. Molecular and Cellular Probes vol. 11, (4) 297-308.
10.1006/mcpr.1997.0120
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