All Stories

  1. Isolated Glucocorticoid Deficiency: genetic causes and animal models

    Article • The Journal of Steroid Biochemistry and Molecular Biology, February 2019, Elsevier

    Professor Lou A Metherell

  2. SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency

    Article • The Journal of Clinical Endocrinology & Metabolism, December 2018, Endocrine Society

    Professor Lou A Metherell

  3. Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing

    Article • Journal of the Endocrine Society, October 2018, Endocrine Society

    Professor Lou A Metherell

  4. Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action

    Article • Endocrine Reviews, September 2018, Endocrine Society

    Professor Lou A Metherell

  5. HS6ST1 Insufficiency Causes Self-Limited Delayed Puberty in Contrast With Other GnRH Deficiency Genes

    Article • The Journal of Clinical Endocrinology & Metabolism, June 2018, Endocrine Society

    Professor Lou A Metherell

  6. MRAP deficiency impairs adrenal progenitor cell differentiation and gland zonation

    Article • The FASEB Journal, June 2018, Wiley

    Prof Adrian J.L. Clark, Professor Lou A Metherell

  7. Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation

    Article • Nature Communications, May 2018, Springer Science + Business Media

    Professor Lou A Metherell

  8. Nicotinamide Nucleotide Transhydrogenase as a Novel Treatment Target in Adrenocortical Carcinoma

    Article • Endocrinology, April 2018, Endocrine Society

    Professor Lou A Metherell

  9. Phenotypic spectrum and responses to recombinant human IGF1 (rhIGF1) therapy in patients with homozygous intronic pseudoexon growth hormone receptor mutation

    Article • European Journal of Endocrinology, March 2018, Bioscientifica

    Professor Lou A Metherell

  10. NNT is a key regulator of adrenal redox homeostasis and steroidogenesis in male mice

    Article • Journal of Endocrinology, January 2018, Bioscientifica

    Professor Lou A Metherell

  11. Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells

    Article • Cell Reports, January 2018, Elsevier

    Professor Lou A Metherell

  12. Whole-exome sequencing gives additional benefits compared to candidate gene sequencing in the molecular diagnosis of children with growth hormone or IGF-1 insensitivity

    Article • European Journal of Endocrinology, September 2017, Bioscientifica

    Professor Lou A Metherell

  13. In-frame seven amino-acid duplication in AIP arose over the last 3000 years, disrupts protein interaction and stability and is associated with gigantism

    Article • European Journal of Endocrinology, June 2017, Bioscientifica

    Marta Korbonits, Professor Lou A Metherell

  14. Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I Deficiency

    Article • Journal of the Endocrine Society, March 2017, Endocrine Society

    Professor Lou A Metherell

  15. Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome

    Article • Journal of Clinical Investigation, February 2017, American Society for Clinical Investigation

    Professor Lou A Metherell

  16. Three-Dimensional Model of Human Nicotinamide Nucleotide Transhydrogenase (NNT) and Sequence-Structure Analysis of its Disease-Causing Variations

    Article • Human Mutation, August 2016, Wiley

    Professor Lou A Metherell

  17. IGSF10mutations dysregulate gonadotropin‐releasing hormone neuronal migration resulting in delayed puberty

    Article • EMBO Molecular Medicine, April 2016, EMBO

    Valentina André, Professor Lou A Metherell

  18. Primary Adrenocortical Insufficiency Case Series: Genetic Etiologies More Common than Expected

    Article • Hormone Research in Paediatrics, December 2015, Karger Publishers

    Professor Lou A Metherell

  19. Genetic characterisation of children with short stature and GH or IGF1 insensitivity by single gene and whole exome sequencing

    Article • November 2015

    Professor Lou A Metherell

  20. Dominant negative STAT5B variants in two families with mild GH insensitivity and eczema

    Article • November 2015

    Professor Lou A Metherell

  21. Molecular diagnosis of patients with adrenal insufficiency using a targeted custom Haloplex next-generation sequencing panel

    Article • Endocrine Abstracts, October 2015, Bioscientifica

    Professor Lou A Metherell

  22. RNA-sequencing of mouse adrenals reveals the pathways perturbed by loss of nicotinamide nucleotide transhydrogenase

    Article • October 2015

    Professor Lou A Metherell

  23. Nicotinamide nucleotide transhydrogenase (NNT) as a novel molecular target in adrenocortical carcinoma - impact of NNT knockdown on adrenocortical cell proliferation, redox balance and steroidogenesis

    Article • October 2015

    Professor Lou A Metherell

  24. Whole-Exome Sequencing in the Differential Diagnosis of Primary Adrenal Insufficiency in Children

    Article • Frontiers in Endocrinology, August 2015, Frontiers

    Professor Lou A Metherell

  25. Genetic characterisation of a cohort of children clinically labelled as GH or IGF1 insensitive: diagnostic value of serum IGF1 and height at presentation

    Article • European Journal of Endocrinology, February 2015, Bioscientifica

    Professor Lou A Metherell

  26. NNTPseudoexon Activation as a Novel Mechanism for Disease in Two Siblings With Familial Glucocorticoid Deficiency

    Article • The Journal of Clinical Endocrinology & Metabolism, February 2015, Endocrine Society

    Professor Lou A Metherell

  27. Heterogeneity of the growth phenotype and birth size in acid-labile subunit (ALS) deficiency

    Article • Journal of Endocrinological Investigation, October 2014, Springer Science + Business Media

    Professor Lou A Metherell

  28. Molecular Genetics of Inherited Glucocorticoid Deficiency

    Article • October 2014, Wiley

    Professor Lou A Metherell

  29. Varied clinical presentations of six patients with mutations in CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450scc

    Article • October 2014

    Professor Lou A Metherell

  30. cDNA analysis reveals NNT pseudoexon activation in two siblings with familial glucocorticoid deficiency

    Article • October 2014

    Professor Lou A Metherell

  31. A heterozygous STAT5B variant in a family with short stature and transient hyperprolactinaemia: a possible dominant negative effect

    Article • October 2014

    Professor Lou A Metherell

  32. Thioredoxin Reductase 2 (TXNRD2) Mutation Associated With Familial Glucocorticoid Deficiency (FGD)

    Article • The Journal of Clinical Endocrinology & Metabolism, August 2014, Endocrine Society

    Professor Lou A Metherell

  33. Mitochondrial thiol systems are important players in antioxidant defence for the human adrenal cortex

    Article • April 2014

    Professor Lou A Metherell

  34. 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

    Article • The Journal of Clinical Endocrinology & Metabolism, April 2014, Endocrine Society

    Professor Lou A Metherell

  35. Oxidative stress and adrenocortical insufficiency

    Article • March 2014, Bioscientifica

    Professor Lou A Metherell

  36. A novel gene affecting the timing of puberty

    Article • March 2014

    Professor Lou A Metherell

  37. A Novel Homozygous Mutation of the <b><i>IGFALS</i></b> Gene in a Female Adolescent: Indirect Evidence for a Contributing Role of the Circulating IGF-I Pool in the Pubertal Growth Spurt

    Article • Hormone Research in Paediatrics, January 2014, Karger Publishers

    Professor Lou A Metherell

  38. Deficiency of ALADIN Impairs Redox Homeostasis in Human Adrenal Cells and Inhibits Steroidogenesis

    Article • Endocrinology, September 2013, Endocrine Society

    Professor Lou A Metherell

  39. Genome sequencing reveals mitochondrial thiol systems are essential for antioxidant defence in human adrenal glands

    Article • Free Radical Biology and Medicine, September 2013, Elsevier

    Professor Lou A Metherell

  40. Familial glucocorticoid deficiency: a diagnostic challenge during acute illness

    Article • European Journal of Pediatrics, May 2013, Springer Science + Business Media

    Professor Lou A Metherell

  41. Familial glucocorticoid deficiency: New genes and mechanisms

    Article • Molecular and Cellular Endocrinology, May 2013, Elsevier

    Professor Lou A Metherell

  42. 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

    Article • March 2013

    Professor Lou A Metherell

  43. A mutation in thioredoxin reductase 2 (TXNRD2) is associated with a predominantly adrenal phenotype in humans

    Article • March 2013

    Professor Lou A Metherell

  44. ACTH Resistance: Genes and Mechanisms

    Article • January 2013, Karger Publishers

    Professor Lou A Metherell

  45. Adrenocortical Development, Maintenance, and Disease

    Article • January 2013, Elsevier

    Professor Lou A Metherell

  46. A homozygous glutathione peroxidase 1 mutation, p. Arg130-Leu133del, in a patient with familial glucocorticoid deficiency

    Article • Free Radical Biology and Medicine, September 2012, Elsevier

    Professor Lou A Metherell

  47. Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency

    Article • Nature Genetics, May 2012, Springer Science + Business Media

    Professor Lou A Metherell

  48. An Atypical Case of Familial Glucocorticoid Deficiency without Pigmentation Caused by Coexistent Homozygous Mutations inMC2R(T152K) andMC1R(R160W)

    Article • The Journal of Clinical Endocrinology & Metabolism, May 2012, Endocrine Society

    Professor Lou A Metherell

  49. MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans

    Article • Journal of Clinical Investigation, March 2012, American Society for Clinical Investigation

    Professor Lou A Metherell

  50. Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory protein

    Article • September 2011

    Professor Lou A Metherell

  51. Severe Cortisol Deficiency Associated with Reversible Growth Hormone Deficiency in Two Infants: What Is the Link?

    Article • The Journal of Clinical Endocrinology & Metabolism, September 2011, Endocrine Society

    Professor Lou A Metherell

  52. Evidence for a Continuum of Genetic, Phenotypic, and Biochemical Abnormalities in Children with Growth Hormone Insensitivity

    Article • Endocrine Reviews, August 2011, Endocrine Society

    Professor Lou A Metherell

  53. Effects of melanocortins on adrenal gland physiology

    Article • European Journal of Pharmacology, June 2011, Elsevier

    Professor Lou A Metherell

  54. 5.10 Familial glucocorticoid deficiency

    Article • January 2011, Oxford University Press (OUP)

    Professor Lou A Metherell

  55. 7.2.3 Genetic defects of the human somatotropic axis

    Article • January 2011, Oxford University Press (OUP)

    Professor Lou A Metherell

  56. Genetic Defects in the Growth Hormone?IGF-I Axis Causing Growth Hormone Insensitivity and Impaired Linear Growth

    Article • Frontiers in Endocrinology, January 2011, Frontiers

    Professor Lou A Metherell

  57. Repair of Aberrant Splicing in Growth Hormone Receptor by Antisense Oligonucleotides Targeting the Splice Sites of a Pseudoexon

    Article • The Journal of Clinical Endocrinology & Metabolism, July 2010, Endocrine Society

    Professor Lou A Metherell

  58. Missense Mutations in the Melanocortin 2 Receptor Accessory Protein That Lead to Late Onset Familial Glucocorticoid Deficiency Type 2

    Article • The Journal of Clinical Endocrinology & Metabolism, July 2010, Endocrine Society

    Professor Lou A Metherell

  59. Missense Mutations in the Melanocortin 2 Receptor Accessory Protein That Lead to Late Onset Familial Glucocorticoid Deficiency Type 2

    Article • Endocrinology, June 2010, Endocrine Society

    Professor Lou A Metherell

  60. Repair of Aberrant Splicing in Growth Hormone Receptor by Antisense Oligonucleotides Targeting the Splice Sites of a Pseudoexon

    Article • Molecular Endocrinology, June 2010, Endocrine Society

    Professor Lou A Metherell

  61. Missense Mutations in the Melanocortin 2 Receptor Accessory Protein That Lead to Late Onset Familial Glucocorticoid Deficiency Type 2

    Article • Endocrine Reviews, June 2010, Endocrine Society

    Professor Lou A Metherell

  62. Repair of Aberrant Splicing in Growth Hormone Receptor by Antisense Oligonucleotides Targeting the Splice Sites of a Pseudoexon

    Article • Endocrine Reviews, June 2010, Endocrine Society

    Professor Lou A Metherell

  63. d3‐GHR genotype does not explain heterogeneity in GH responsiveness in hypopituitary adults

    Article • Clinical Endocrinology, May 2010, Wiley

    Professor Lou A Metherell

  64. Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2

    Article • Clinical Endocrinology, March 2010, Wiley

    Professor Lou A Metherell

  65. Acid-Labile Subunit Deficiency and Growth Failure: Description of Two Novel Cases

    Article • Hormone Research in Paediatrics, January 2010, Karger Publishers

    Professor Lou A Metherell

  66. Familial Isolated Primary Pigmented Nodular Adrenocortical Disease Associated with a Novel Low Penetrance <i>PRKAR1A</i> Gene Splice Site Mutation

    Article • Hormone Research in Paediatrics, January 2010, Karger Publishers

    Professor Lou A Metherell

  67. Isolated Addison's disease is unlikely to be caused by mutations in MC2R, MRAP or STAR, three genes responsible for familial glucocorticoid deficiency

    Article • November 2009

    Professor Lou A Metherell

  68. Identification and characterisation of a novel GHR defect disrupting the polypyrimidine tract and resulting in GH insensitivity

    Article • October 2009

    Professor Lou A Metherell

  69. Nonclassic Lipoid Congenital Adrenal Hyperplasia Masquerading as Familial Glucocorticoid Deficiency

    Article • The Journal of Clinical Endocrinology & Metabolism, October 2009, Endocrine Society

    Professor Lou A Metherell

  70. Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long‐term mineralocorticoid deficiency

    Article • Clinical Endocrinology, July 2009, Wiley

    Professor Lou A Metherell

  71. MRAP and MRAP2 are bidirectional regulators of the melanocortin receptor family

    Article • Proceedings of the National Academy of Sciences, April 2009, Proceedings of the National Academy of Sciences

    Professor Lou A Metherell

  72. The genetics of familial glucocorticoid deficiency

    Article • Best Practice & Research Clinical Endocrinology & Metabolism, April 2009, Elsevier

    Professor Lou A Metherell

  73. Accessory proteins are vital for the functional expression of certain G protein-coupled receptors

    Article • Molecular and Cellular Endocrinology, March 2009, Elsevier

    Professor Lou A Metherell

  74. Functional consequence of a novel Y129C mutation in a patient with two contradictory melanocortin-2-receptor mutations

    Article • January 2009

    Professor Lou A Metherell

  75. Phenotypic Aspects of Growth Hormone- and IGF-I-Resistant Syndromes

    Article • January 2009, Karger Publishers

    Professor Lou A Metherell

  76. 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

    Article • The Journal of Clinical Endocrinology & Metabolism, December 2008, Endocrine Society

    Professor Lou A Metherell

  77. OR9,3 Acid-labile subunit gene mutations: clinical, biochemical and molecular study in two unrelated families

    Article • Growth Hormone & IGF Research, September 2008, Elsevier

    Professor Lou A Metherell

  78. Adrenocorticotropin Resistance Syndromes

    Article • January 2008, Karger Publishers

    Professor Lou A Metherell

  79. Familial Glucocorticoid Deficiency: Advances in the Molecular Understanding of ACTH Action

    Article • Hormone Research in Paediatrics, December 2007, Karger Publishers

    Professor Lou A Metherell

  80. Clinical and biological phenotype of a patient with familial glucocorticoid deficiency type 2 caused by a mutation of melanocortin 2 receptor accessory protein

    Article • October 2007

    Professor Lou A Metherell

  81. The TPIT Gene Mutation M86R Associated with Isolated Adrenocorticotropin Deficiency Interferes with Protein: Protein Interactions

    Article • The Journal of Clinical Endocrinology & Metabolism, October 2007, Endocrine Society

    Professor Lou A Metherell

  82. Idiopathic short stature: will genetics influence the choice between GH and IGF-I therapy?

    Article • August 2007

    Professor Lou A Metherell

  83. Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes

    Article • Clinical Endocrinology, April 2007, Wiley

    Professor Lou A Metherell

  84. An Intronic Growth Hormone Receptor Mutation Causing Activation of a Pseudoexon Is Associated with a Broad Spectrum of Growth Hormone Insensitivity Phenotypes

    Article • The Journal of Clinical Endocrinology & Metabolism, February 2007, Endocrine Society

    Professor Lou A Metherell

  85. Growth Hormone Insensitivity and Severe Short Stature in Siblings: A Novel Mutation at the Exon 13-Intron 13 Junction of the <i>STAT5b</i> Gene

    Article • Hormone Research in Paediatrics, January 2007, Karger Publishers

    Professor Lou A Metherell

  86. The genetics of ACTH resistance syndromes

    Article • Best Practice & Research Clinical Endocrinology & Metabolism, December 2006, Elsevier

    Professor Lou A Metherell

  87. Severe loss‐of‐function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt‐losing adrenal hypoplasia

    Article • Clinical Endocrinology, November 2006, Wiley

    Professor Lou A Metherell

  88. Endocrine assessment, molecular characterization and treatment of growth hormone insensitivity disorders

    Article • Nature Clinical Practice Endocrinology &#38 Metabolism, July 2006, Springer Science + Business Media

    Professor Lou A Metherell

  89. Mechanisms of Disease: the adrenocorticotropin receptor and disease

    Article • Nature Clinical Practice Endocrinology &#38 Metabolism, May 2006, Springer Science + Business Media

    Professor Lou A Metherell

  90. A 36 residues insertion in the dimerization domain of the growth hormone receptor results in defective trafficking rather than impaired signaling

    Article • February 2006, Bioscientifica

    Professor Lou A Metherell

  91. Inherited ACTH insensitivity illuminates the mechanisms of ACTH action

    Article • Trends in Endocrinology and Metabolism, December 2005, Elsevier

    Professor Lou A Metherell

  92. Diagnostic and Therapeutic Advances in Growth Hormone Insensitivity

    Article • Endocrinology and Metabolism Clinics of North America, September 2005, Elsevier

    Professor Lou A Metherell

  93. Genetics of ACTH insensitivity syndromes

    Article • Annales d Endocrinologie, June 2005, Elsevier

    Professor Lou A Metherell

  94. Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2

    Article • Nature Genetics, January 2005, Springer Science + Business Media

    Professor Lou A Metherell

  95. Novel Growth Hormone Receptor Mutation in a Chinese Patient with Laron Syndrome

    Article • Journal of Pediatric Endocrinology and Metabolism, January 2005, De Gruyter

    Professor Lou A Metherell

  96. TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency

    Article • October 2004

    Professor Lou A Metherell

  97. Growth Hormone (GH) Insensitivity Syndrome due to a GH Receptor Truncated after Box1, Resulting in Isolated Failure of STAT 5 Signal Transduction

    Article • The Journal of Clinical Endocrinology & Metabolism, March 2004, Endocrine Society

    Professor Lou A Metherell

  98. Mutations in a Novel Gene, Encoding a Single Transmembrane Domain Protein Are Associated with Familial Glucocorticoid Deficiency Type 2

    Article • Endocrine Research, January 2004, Taylor & Francis

    Professor Lou A Metherell

  99. 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

    Article • Clinical Endocrinology, August 2003, Wiley

    Professor Lou A Metherell, Marta Korbonits

  100. Spontaneous growth hormone secretory characteristics in children with partial growth hormone insensitivity

    Article • Clinical Endocrinology, August 2002, Wiley

    Professor Lou A Metherell

  101. Detection of rpoB Mutations in Mycobacterium tuberculosis by Biprobe Analysis

    Article • Journal of Clinical Microbiology, September 2001, ASM Journals

    Professor Lou A Metherell

  102. Pseudoexon Activation as a Novel Mechanism for Disease Resulting in Atypical Growth-Hormone Insensitivity

    Article • The American Journal of Human Genetics, September 2001, Elsevier

    Professor Lou A Metherell

  103. Growth Hormone Insensitivity: Pathophysiology, Diagnosis, Clinical Variation and Future Perspectives

    Article • Hormone Research in Paediatrics, January 2001, Karger Publishers

    Professor Lou A Metherell

  104. Tall stature in familial glucocorticoid deficiency

    Article • Clinical Endocrinology, October 2000, Wiley

    Professor Lou A Metherell, J. Atilio Canas

  105. NOSOCOMIAL ACQUISITION OFBURKHOLDERIA GLADIOLIIN PATIENTS WITH CYSTIC FIBROSIS

    Article • American Review of Respiratory Disease, July 1999, American Thoracic Society

    Professor Lou A Metherell

  106. Predictive modelling of fluorescent AFLP: a new approach to the molecular epidemiology of

    Article • Research in Microbiology, January 1999, Elsevier

    Professor Lou A Metherell

  107. Investigation of an outbreak of multidrug resistant tuberculosis among renal patients using rpo B genes sequencing and IS6110 inverse PCR

    Article • Journal of Infection, September 1997, Elsevier

    Professor Lou A Metherell

  108. Rapid, sensitive, microbial detection by gene amplification using restriction endonuclease target sequences

    Article • Molecular and Cellular Probes, August 1997, Elsevier

    Professor Lou A Metherell

  109. Outbreak of septicaemia in neonates caused by Acinetobacter junii investigated by amplified ribosomal DNA restriction analysis (ARDRA) and four typing methods

    Article • Journal of Hospital Infection, February 1997, Elsevier

    Professor Lou A Metherell

  110. Utility of Polycation-Treated Filters for the Assay of Receptors for VIP

    Article • Journal of Receptor Research, January 1988, Taylor & Francis

    Professor Lou A Metherell

  111. IGF-I Deficiency: Lessons from Human Mutations

    Article • Springer Science + Business Media

    Professor Lou A Metherell