Adrian J L Clark

Summary

Affiliation: Queen Mary
Country: UK

Publications

  1. ncbi The genetics of familial glucocorticoid deficiency
    Adrian J L Clark
    Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, London, UK
    Best Pract Res Clin Endocrinol Metab 23:159-65. 2009
  2. ncbi Association between insulin-like growth factor I (IGF-I) polymorphisms, circulating IGF-I, and pre- and postnatal growth in two European small for gestational age populations
    Linda B Johnston
    Department of Endocrinology, Barts and the London Queen Mary School of Medicine, University of London, London, United Kingdom
    J Clin Endocrinol Metab 88:4805-10. 2003
  3. ncbi Distinct melanocortin 2 receptor accessory protein domains are required for melanocortin 2 receptor interaction and promotion of receptor trafficking
    Tom R Webb
    Centre for Endocrinology, William Harvey Research Institute, Barts and The London, London, UK
    Endocrinology 150:720-6. 2009
  4. pmc Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency
    Eirini Meimaridou
    Centre for Endocrinology, Queen Mary University of London, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, London, UK
    Nat Genet 44:740-2. 2012
  5. pmc Characterization of the angiotensin (AT1b) receptor promoter and its regulation by glucocorticoids
    Irina G Bogdarina
    Centre for Endocrinology, Queen Mary University of London, Barts and the London School of Medicine and Dentistry, John Vane Science Centre, London, UK
    J Mol Endocrinol 43:73-80. 2009
  6. pmc Glucocorticoid effects on the programming of AT1b angiotensin receptor gene methylation and expression in the rat
    Irina Bogdarina
    Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom
    PLoS ONE 5:e9237. 2010
  7. pmc Bioluminescence resonance energy transfer reveals the adrenocorticotropin (ACTH)-induced conformational change of the activated ACTH receptor complex in living cells
    Sadani N Cooray
    Centre for Endocrinology, Queen Mary University of London, Barts and the London School of Medicine and Dentistry, London EC1M 6BQ, United Kingdom
    Endocrinology 152:495-502. 2011
  8. pmc Isolated Addison's disease is unlikely to be caused by mutations in MC2R, MRAP or STAR, three genes responsible for familial glucocorticoid deficiency
    R P Dias
    Barts and the London School of Medicine and Dentistry, Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK
    Eur J Endocrinol 162:357-9. 2010
  9. pmc A novel liver specific isoform of the rat LAR transcript is expressed as a truncated isoform encoded from a 5'UTR located within intron 11
    Simon J M Welham
    University of Nottingham, Division of Nutritional Sciences, Sutton Bonington Campus, Loughborough, Leicestershire, LE12 5RD, UK
    BMC Mol Biol 10:30. 2009
  10. ncbi Expression, desensitization, and internalization of the ACTH receptor (MC2R)
    Adrian J L Clark
    Department of Endocrinology, Queen Mary University of London, London EC1A 7BE, United Kingdom
    Ann N Y Acad Sci 994:111-7. 2003

Collaborators

Detail Information

Publications69

  1. ncbi The genetics of familial glucocorticoid deficiency
    Adrian J L Clark
    Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, London, UK
    Best Pract Res Clin Endocrinol Metab 23:159-65. 2009
    ....
  2. ncbi Association between insulin-like growth factor I (IGF-I) polymorphisms, circulating IGF-I, and pre- and postnatal growth in two European small for gestational age populations
    Linda B Johnston
    Department of Endocrinology, Barts and the London Queen Mary School of Medicine, University of London, London, United Kingdom
    J Clin Endocrinol Metab 88:4805-10. 2003
    ..These studies validate the association of the IGF-I gene with birth size and refine the region of association in Swedish short SGA subjects...
  3. ncbi Distinct melanocortin 2 receptor accessory protein domains are required for melanocortin 2 receptor interaction and promotion of receptor trafficking
    Tom R Webb
    Centre for Endocrinology, William Harvey Research Institute, Barts and The London, London, UK
    Endocrinology 150:720-6. 2009
    ..We identify the transmembrane domain of MRAP as the MC2R interaction domain and a conserved N-terminal tyrosine-rich domain of MRAP that is required for trafficking MC2R to the cell surface...
  4. pmc Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency
    Eirini Meimaridou
    Centre for Endocrinology, Queen Mary University of London, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, London, UK
    Nat Genet 44:740-2. 2012
    ..NNT knockdown in a human adrenocortical cell line resulted in impaired redox potential and increased reactive oxygen species (ROS) levels. Our results suggest that NNT may have a role in ROS detoxification in human adrenal glands...
  5. pmc Characterization of the angiotensin (AT1b) receptor promoter and its regulation by glucocorticoids
    Irina G Bogdarina
    Centre for Endocrinology, Queen Mary University of London, Barts and the London School of Medicine and Dentistry, John Vane Science Centre, London, UK
    J Mol Endocrinol 43:73-80. 2009
    ..These studies will facilitate an understanding of the mechanisms by which fetal programming leads to long term alterations in gene expression and the development of adult disease...
  6. pmc Glucocorticoid effects on the programming of AT1b angiotensin receptor gene methylation and expression in the rat
    Irina Bogdarina
    Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom
    PLoS ONE 5:e9237. 2010
    ..However in later pregnancy a converse effect with dexamethasone could not be demonstrated and this may reflect either an alternative mechanism of this glucocorticoid or a stage-specific influence...
  7. pmc Bioluminescence resonance energy transfer reveals the adrenocorticotropin (ACTH)-induced conformational change of the activated ACTH receptor complex in living cells
    Sadani N Cooray
    Centre for Endocrinology, Queen Mary University of London, Barts and the London School of Medicine and Dentistry, London EC1M 6BQ, United Kingdom
    Endocrinology 152:495-502. 2011
    ..The MRAP-MC2R BRET approach provides a unique tool with which to analyze the activation of this receptor...
  8. pmc Isolated Addison's disease is unlikely to be caused by mutations in MC2R, MRAP or STAR, three genes responsible for familial glucocorticoid deficiency
    R P Dias
    Barts and the London School of Medicine and Dentistry, Centre for Endocrinology, John Vane Science Centre, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK
    Eur J Endocrinol 162:357-9. 2010
    ..We investigated a cohort of autoantibody-negative AD patients for mutations in these genes...
  9. pmc A novel liver specific isoform of the rat LAR transcript is expressed as a truncated isoform encoded from a 5'UTR located within intron 11
    Simon J M Welham
    University of Nottingham, Division of Nutritional Sciences, Sutton Bonington Campus, Loughborough, Leicestershire, LE12 5RD, UK
    BMC Mol Biol 10:30. 2009
    ..Splice variants exhibit differing roles and are expressed according to tissue type and developmental stage...
  10. ncbi Expression, desensitization, and internalization of the ACTH receptor (MC2R)
    Adrian J L Clark
    Department of Endocrinology, Queen Mary University of London, London EC1A 7BE, United Kingdom
    Ann N Y Acad Sci 994:111-7. 2003
    ..Possible underlying reasons for this paradox are discussed...
  11. ncbi Genetics of ACTH insensitivity syndromes
    J L A Clark
    Department of Endocrinology, William Harvey Research Institute, Barts and The London, Queen Mary, University of London, West Smithfield, London EC1A 7BE, UK
    Ann Endocrinol (Paris) 66:247-9. 2005
    ....
  12. ncbi Inherited ACTH insensitivity illuminates the mechanisms of ACTH action
    Adrian J L Clark
    Department of Endocrinology, Barts and The London, Queen Mary, University of London, West Smithfield, London EC1M 6BQ, UK
    Trends Endocrinol Metab 16:451-7. 2005
    ..Molecular defects underlying other causes of ACTH insensitivity syndromes will probably contribute further to our understanding of these pathways...
  13. ncbi Mechanisms of disease: the adrenocorticotropin receptor and disease
    Adrian J L Clark
    Centre for Endocrinology, the William Harvey Research Institute at Barts and the London, UK
    Nat Clin Pract Endocrinol Metab 2:282-90. 2006
    ..Understanding the basis of ACTH responsiveness might, therefore, contribute to the understanding of disorders such as these and perhaps enable the hypothalamo-pituitary-adrenal axis to be manipulated beneficially in these circumstances...
  14. pmc MRAP and MRAP2 are bidirectional regulators of the melanocortin receptor family
    Li F Chan
    Queen Mary University of London, Centre for Endocrinology, St Bartholomew s and Royal London School of Medicine and Dentistry, London EC1M 6BQ, United Kingdom
    Proc Natl Acad Sci U S A 106:6146-51. 2009
    ..Collectively, our data identify MRAP and MRAP2 as unique bidirectional regulators of the MCR family...
  15. doi Familial glucocorticoid deficiency: New genes and mechanisms
    Eirini Meimaridou
    Queen Mary University of London, Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, London, UK
    Mol Cell Endocrinol 371:195-200. 2013
    ..Over time patients with MCM4 or NNT mutations may develop other organ pathologies related to their impaired gene functions and will therefore need careful monitoring...
  16. pmc Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2
    Teng Teng L L Chung
    Centre for Endocrinology, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK
    Clin Endocrinol (Oxf) 72:589-94. 2010
    ..The disorder is known as FGD type 1 and 2, respectively...
  17. pmc MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans
    Claire R Hughes
    Queen Mary University of London, Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, London, UK
    J Clin Invest 122:814-20. 2012
    ..In summary, we have identified what we believe to be the first human mutation in MCM4 and have shown that it is associated with adrenal insufficiency, short stature, and NK cell deficiency...
  18. pmc Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiency
    Li F Chan
    Centre for Endocrinology, William Harvey Research Institute, St Bartholomew s and the Royal London School of Medicine and Dentistry, London, UK
    Clin Endocrinol (Oxf) 71:171-5. 2009
    ....
  19. ncbi Idiopathic short stature: will genetics influence the choice between GH and IGF-I therapy?
    Martin O Savage
    Endocrinology Centre, William Harvey Research Institute, Queen Mary, University of London, London, EC1M 6BQ UK
    Eur J Endocrinol 157:S33-7. 2007
    ..Genetic analysis for single-gene defects has made enormous contributions to understanding the physiology of growth regulation. Can this type of investigation help in predicting growth responses to GH or IGF-I therapy?..
  20. ncbi Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanism
    Helen L Storr
    Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, United Kingdom
    Mol Endocrinol 23:2086-94. 2009
    ..Taken together, this work offers a plausible mechanism for the progressive clinical features of triple A syndrome...
  21. ncbi Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity
    Alessia David
    Department of Endocrinology, Barts and the London School of Medicine and Dentistry, London, United Kingdom
    Endocr Rev 32:472-97. 2011
    ....
  22. doi Phenotypic aspects of growth hormone- and IGF-I-resistant syndromes
    Martin O Savage
    Department of Endocrinology, William Harvey Research Institute, London, UK
    Endocr Dev 14:143-50. 2009
    ..We discuss the current status of endocrine and molecular evaluation, focussing on the phenotypic characteristics of genetic defects in the GH-IGF-I axis...
  23. ncbi Identification of a novel melanocortin 2 receptor splice variant in murine adipocytes: implications for post-transcriptional control of expression during adipogenesis
    Luke A Noon
    Endocrinology Centre, William Harvey Research Institute, Bart s and The London, Queen Mary, University of London, London EC1A 7BE, UK
    J Mol Endocrinol 37:415-20. 2006
    ..These are typical features of mRNAs under translational control and imply that the MC2-R gene is regulated both transcriptionally and post-transcriptionally during adipogenesis...
  24. ncbi Impaired desensitization of a mutant adrenocorticotropin receptor associated with apparent constitutive activity
    Francesca M Swords
    Department of Endocrinology, Barts and The London, Queen Mary School of Medicine, West Smithfield, London EC1A 7BE, United Kingdom
    Mol Endocrinol 16:2746-53. 2002
    ..These findings suggest a novel mechanism is involved in the apparently constitutive activation of the MC2R in which failure of desensitization appears to be associated with enhanced basal receptor activity...
  25. pmc Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency
    Louise A Metherell
    Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine, London EC1M 6BQ, United Kingdom
    J Clin Endocrinol Metab 94:3865-71. 2009
    ..Mutations of the ACTH receptor (MC2R) and the melanocortin 2 receptor accessory protein (MRAP), FGD types 1 and 2 respectively, account for approximately 45% of cases...
  26. ncbi Constitutive activation of the human ACTH receptor resulting from a synergistic interaction between two naturally occurring missense mutations in the MC2R gene
    Francesca M Swords
    Department of Endocrinology, Barts and The London, Queen Mary University of London, London EC1A 7BE, UK
    Mol Cell Endocrinol 213:149-54. 2004
    ..005. The co-expression of the normal MC2R allele results in the retention of a normal dose response to ACTH despite the presence of constitutive activity...
  27. ncbi The genetics of ACTH resistance syndromes
    Louise A Metherell
    Centre for Endocrinology, William Harvey Research Institute, Queen Mary s School of Medicine and Dentistry at Barts and The London, John Vane Science Centre, Charterhouse Square, London EC1M 6BQ, UK
    Best Pract Res Clin Endocrinol Metab 20:547-60. 2006
    ..This review will summarize the clinical, biochemical and genetic aspects of these rare but informative diseases...
  28. ncbi Diagnostic and therapeutic advances in growth hormone insensitivity
    Alessia David
    Molecular Endocrinology Centre, William Harvey Research Institute, St Bartholomew s Hospital, London, UK
    Endocrinol Metab Clin North Am 34:581-95, viii. 2005
    ....
  29. pmc Functional consequence of a novel Y129C mutation in a patient with two contradictory melanocortin-2-receptor mutations
    Li F Chan
    Queen Mary University of London, Centre for Endocrinology, Barts and the London School of Medicine and Dentistry, London, UK
    Eur J Endocrinol 160:705-10. 2009
    ..Inactivating mutations in the ACTH receptor (melanocortin-2-receptor, MC2R) are well described and account for approximately 25% of cases. By contrast, activating MC2R mutations are extremely rare...
  30. ncbi Familial isolated primary pigmented nodular adrenocortical disease associated with a novel low penetrance PRKAR1A gene splice site mutation
    Helen L Storr
    Queen Mary University of London, Barts and London School of Medicine and Dentistry, Centre for Endocrinology, William Harvey Research Institute, London, UK
    Horm Res Paediatr 73:115-9. 2010
    ..Most mutations result in a functionally null-allele and exhibit high penetrance. We genotyped members of an extended family for a novel PRKAR1A mutation and undertook detailed phenotyping for CNC in the affected individuals...
  31. ncbi The melanocortin 2 receptor accessory protein exists as a homodimer and is essential for the function of the melanocortin 2 receptor in the mouse y1 cell line
    Sadani N Cooray
    Centre for Endocrinology, William Harvey Research Institute, Barts and The London, Queen Mary University of London, West Smithfield, London, United Kingdom
    Endocrinology 149:1935-41. 2008
    ..1-kDa protein. Coimmunoprecipitation and mass spectroscopy suggests that MRAP exists as a homodimer that is resistant to dissociation by sodium dodecyl sulfate and reducing agents...
  32. ncbi Endocrine assessment, molecular characterization and treatment of growth hormone insensitivity disorders
    Martin O Savage
    Paediatric Endocrinology Unit, William Harvey Research Institute, St Bartholomew s Hospital and the London School of Medicine and Dentistry, London, UK
    Nat Clin Pract Endocrinol Metab 2:395-407. 2006
    ....
  33. ncbi Gene association studies in small for gestational age infants
    Linda B Johnston
    Paediatric Endocrinology Section, St Bartholomew s Hospital and the London Medical and Dental School, Queen Mary University of London, UK
    J Pediatr Endocrinol Metab 15:1459. 2002
  34. ncbi Repair of aberrant splicing in growth hormone receptor by antisense oligonucleotides targeting the splice sites of a pseudoexon
    Alessia David
    Centre for Endocrinology, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, EC1M 6BQ London, UK
    J Clin Endocrinol Metab 95:3542-6. 2010
    ..It results in a broad range of phenotypes and may also be present in patients diagnosed as idiopathic short stature...
  35. ncbi A CCAAT/enhancer-binding protein site at -87 is required for the activation of a novel murine melanocortin 2-receptor promoter at late stages during adipogenesis
    Luke A Noon
    Molecular Endocrinology Centre, William Harvey Research Institute, Charterhouse Square, Bart s and The London, Queen Mary, University of London, London EC1M 6BQ, United Kingdom
    Endocrinology 147:6019-26. 2006
    ..Real-time PCR analysis of mRNA initiating from the two start sites shows that there is a switch in promoter usage from the 5' to the 3' promoter around d 5, indicating the complex regulation of the murine MC2-R during adipogenesis...
  36. ncbi Accessory proteins are vital for the functional expression of certain G protein-coupled receptors
    Sadani N Cooray
    Centre for Endocrinology, William Harvey Research Institute, Barts and The London, London, UK
    Mol Cell Endocrinol 300:17-24. 2009
    ..Understanding their roles in GPCR expression would not only give us an insight into these receptors from a cell biological point of view but may also potentially lead to the development of novel therapeutics...
  37. ncbi Adrenocorticotropin resistance syndromes
    Sadani N Cooray
    Centre for Endocrinology, William Harvey Research Institute, Barts and The London, London, UK
    Endocr Dev 13:99-116. 2008
    ..However, we will focus on the recent progress made towards understanding the molecular defect underlying these conditions, in particular the interaction of MC2R and MRAP...
  38. ncbi Mutations in a novel gene, encoding a single transmembrane domain protein are associated with familial glucocorticoid deficiency type 2
    Louise A Metherell
    Department of Endocrinology, Barts and The London, London, UK
    Endocr Res 30:889-90. 2004
  39. ncbi Phenotypic variability in growth hormone insensitivity
    Martin O Savage
    Department of Endocrinology, St Bartholomew s and the Royal London School of Medicine and Dentistry, London, UK
    J Pediatr Endocrinol Metab 15:1449-50. 2002
  40. pmc Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia
    Lin Lin
    UCL Institute of Child Health and Department of Medicine, University College London, London, UK
    Clin Endocrinol (Oxf) 66:205-10. 2007
    ....
  41. ncbi Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2
    Louise A Metherell
    Department of Endocrinology, William Harvey Research Institute, Barts and The London, Queen Mary, University of London, West Smithfield, London EC1A 7BE, UK
    Nat Genet 37:166-70. 2005
    ..We show that MRAP interacts with MC2R and may have a role in the trafficking of MC2R from the endoplasmic reticulum to the cell surface...
  42. doi The E3 ubiquitin ligase Mahogunin ubiquitinates the melanocortin 2 receptor
    Sadani N Cooray
    Centre for Endocrinology, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, United Kingdom
    Endocrinology 152:4224-31. 2011
    ..It therefore seems probable that the role of MGRN1 in the adrenal relates to the trafficking and/or degradation of the MC2R...
  43. doi The cytosolic chaperone Hsc70 promotes traffic to the cell surface of intracellular retained melanocortin-4 receptor mutants
    Eirini Meimaridou
    Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom
    Mol Endocrinol 25:1650-60. 2011
    ..These data indicate that cytosolic chaperone systems can facilitate rescue of intracellular retained MC4R by improving folding. They also support proteostasis networks as a potential target for MC4R-linked obesity...
  44. pmc Epigenetic modification of the renin-angiotensin system in the fetal programming of hypertension
    Irina Bogdarina
    Centre for Endocrinology, Barts and The London, Queen Mary University of London, UK
    Circ Res 100:520-6. 2007
    ..It seems highly probable that similar influences may be involved in the development of human hypertension...
  45. doi Effects of melanocortins on adrenal gland physiology
    Li F Chan
    Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, London, UK
    Eur J Pharmacol 660:171-80. 2011
    ..Furthermore, central nervous system expression of MRAPs points to a role beyond MC(2) receptor mediated adrenal steroidogenesis...
  46. ncbi A novel variant of familial glucocorticoid deficiency prevalent among the Irish Traveler population
    Stephen M P O'Riordan
    Developmental Endocrinology Research Group, Clinical Molecular Genetics Unit, Level 3, Institute of Child Health, 30 Guilford Street, London, United Kingdom
    J Clin Endocrinol Metab 93:2896-9. 2008
    ..We noted a significant proportion of our FGD cases are Irish Travelers. Irish Travelers are an endogamous nomadic group ethnically and genetically distinct from Roma gypsies...
  47. pmc Thioredoxin Reductase 2 (TXNRD2) Mutation Associated With Familial Glucocorticoid Deficiency (FGD)
    Rathi Prasad
    Centre for Endocrinology R P, L F C, C R H, J C K, M O S, A J L C, H L S, L A M, Queen Mary University of London, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, London EC1M 6BQ, United Kingdom Inherited Cardiovascular Diseases Unit J P K, Department of Cardiology, Great Ormond St Hospital for Children, and Department of Paediatric Endocrinology C J P, Great Ormond St Hospital for Children, London WC1N 3JH, United Kingdom and Department of Paediatric Endocrinology N N, Luton and Dunstable University Hospital, Luton LU4 0DZ, United Kingdom
    J Clin Endocrinol Metab 99:E1556-63. 2014
    ..Recently FGD cases caused by mutations in the mitochondrial antioxidant, nicotinamide nucleotide transhydrogenase, have highlighted the importance of redox regulation in steroidogenesis...
  48. ncbi Investigation of the role of epigenetic modification of the rat glucokinase gene in fetal programming
    Irina Bogdarina
    Department of Endocrinology, Barts and The London, Queen Mary University of London, EC1A 7BE, UK
    Life Sci 74:1407-15. 2004
    ..However, it remains possible that programming may influence methylation patterns in Gck at a distance from the promoter, or in genes encoding factors that regulate basal Gck expression...
  49. pmc Ligand-specific conformational change of the G-protein-coupled receptor ALX/FPR2 determines proresolving functional responses
    Sadani N Cooray
    William Harvey Research Institute, Barts and the London School of Medicine, London EC1M 6BQ, United Kingdom
    Proc Natl Acad Sci U S A 110:18232-7. 2013
    ..These findings provide a molecular mechanism that accounts for the dual nature of ALX and indicate that agonist binding and dimerization state contribute to the conformational landscape of FPRs. ..
  50. ncbi Insulin-like growth factor (IGF)-I gene deletion
    Cecilia Camacho-Hubner
    Paediatric Endocrinology Section, Department of Endocrinology, St Bartholomew s Hospital, London, UK
    Rev Endocr Metab Disord 3:357-61. 2002
  51. ncbi Advances in the understanding of the genetic basis of adrenal insufficiency
    Helen L Storr
    Department of Endocrinology, St Bartholomew s Hospital and Queen Mary University of London, London, UK
    J Pediatr Endocrinol Metab 15:1323-8. 2002
    ..This review summarizes these recent findings and briefly describes the possible pathogenetic mechanisms that they reveal...
  52. doi Multiple segmental uniparental disomy associated with abnormal DNA methylation of imprinted Loci in silver-russell syndrome
    Renuka P Dias
    Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Charterhouse Square, London EC1M 6BQ, United Kingdom
    J Clin Endocrinol Metab 97:E2188-93. 2012
    ..Although maternal uniparental disomy (UPD) of chromosome 7 and hypomethylation of H19 have been reported in up to 50% of all cases, no unifying mechanism is apparent...
  53. ncbi A peroxisome proliferator-response element in the murine mc2-r promoter regulates its transcriptional activation during differentiation of 3T3-L1 adipocytes
    Luke A Noon
    Molecular Endocrinology Center, William Harvey Research Institute, Bart s and The London, Queen Mary University of London, London, EC1A 7BE, United Kingdom
    J Biol Chem 279:22803-8. 2004
    ..These data highlight a novel mechanism for mc2-r transcription, which may have significance in both adrenal and extra-adrenal sites of expression...
  54. doi Minireview: the melanocortin 2 receptor accessory proteins
    Tom R Webb
    Centre for Endocrinology, John Vane Science Centre, Charterhouse Square, London EC1M6BQ, United Kingdom
    Mol Endocrinol 24:475-84. 2010
    ....
  55. doi Mechanisms of adrenocorticotropin-induced activation of extracellularly regulated kinase 1/2 mitogen-activated protein kinase in the human H295R adrenal cell line
    Mandy E Janes
    Centre for Endocrinology, Barts and the London School of Medicine, London, United Kingdom
    Endocrinology 149:1898-905. 2008
    ....
  56. ncbi Interaction of the melanocortin 2 receptor with nucleoporin 50: evidence for a novel pathway between a G-protein-coupled receptor and the nucleus
    Marina Doufexis
    Centre for Endocrinology, William Harvey Research Institute, Barts and The London, Queen Mary, University of London, West Smithfield, London EC1A 7BE, UK
    FASEB J 21:4095-100. 2007
    ..This time course is most consistent with MC2R internalization dynamics and may suggest a novel role for Nup50...
  57. pmc Genome-wide methylation and gene expression changes in newborn rats following maternal protein restriction and reversal by folic acid
    Gioia Altobelli
    Centre for Endocrinology, William Harvey Research Centre, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom
    PLoS ONE 8:e82989. 2013
    ..The data showed that maternal protein restriction is associated with widespread differential gene expression and DNA methylation across the genome, and that folic acid is able to reset both molecular signatures. ..
  58. ncbi NESTEGG: aims and strategies. Northern European Study of Genes in Growth
    Linda B Johnston
    Paediatric Endocrinology Section, St Bartholomew s Hospital and the London Medical and Dental School, Queen Mary University of London, UK
    J Pediatr Endocrinol Metab 15:1441-2. 2002
  59. doi Melanocortin receptors and their accessory proteins
    Sadani N Cooray
    Centre for Endocrinology, William Harvey Research Institute, Barts and The London, Queen Mary University of London, Charterhouse Square, London EC1 M 6BQ, UK
    Mol Cell Endocrinol 331:215-21. 2011
    ....
  60. ncbi Spontaneous growth hormone secretory characteristics in children with partial growth hormone insensitivity
    Ragnar Bjarnason
    Department of Endocrinology, St Bartholomew s and the Royal London School of Medicine and Dentistry, UK
    Clin Endocrinol (Oxf) 57:357-61. 2002
    ..Their molecular defect consists of inclusion of a mutant intronic pseudoexon in the region of the GH receptor involved in homodimerization...
  61. pmc The melanocortin receptors and their accessory proteins
    Shwetha Ramachandrappa
    Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, Barts and the London School of Medicine and Dentistry London, UK
    Front Endocrinol (Lausanne) 4:9. 2013
    ..The discovery of melanocortin 2 receptor accessory proteins as a novel accessory factor to the MCRs provides further insight into the regulation of these important G protein-coupled receptor...
  62. pmc An atypical case of familial glucocorticoid deficiency without pigmentation caused by coexistent homozygous mutations in MC2R (T152K) and MC1R (R160W)
    Serap Turan
    Marmara University, Department of Pediatric Endocrinology, 34899 Istanbul, Turkey
    J Clin Endocrinol Metab 97:E771-4. 2012
    ..Mutations in the gene encoding the ACTH receptor (MC2R) account for 25% of cases. One significant feature is generalized skin hyperpigmentation, which is thought to be due to elevated ACTH acting on the melanocortin 1 receptor (MC1R)...
  63. ncbi Chromosomal fragility in patients with triple A syndrome
    Shalini Reshmi-Skarja
    Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, Pennsylvania 15261, USA
    Am J Med Genet A 117:30-6. 2003
    ..Our study raises the possibility of an association between chromosomal fragility in band 9q12 and triple A syndrome. Further investigation is necessary to understand the biologic basis of this finding in the context of triple A syndrome...
  64. ncbi Novel growth hormone receptor mutation in a Chinese patient with Laron syndrome
    Hamilton N T Hui
    Department of Paediatrics and Adolescent Medicine, United Christian Hospital, Hong Kong, China
    J Pediatr Endocrinol Metab 18:209-13. 2005
    ..9 years with height -4.9 SDS, basal GH 344 mIU/ml, IGF-I <12 ng/ml, IGFBP-3 <0.2 mg/ml, and undetectable GHBP. A novel mutation of the GHR, not previously described, was identified at the donor splice site of intron 6...
  65. ncbi Novel polymorphisms and lack of mutations in the ACD gene in patients with ACTH resistance syndromes
    Catherine E Keegan
    Department of Pediatrics, Division of Genetics, University of Michigan Medical School, 1150 W Medical Center Drive, Ann Arbor, MI 48109, USA
    Clin Endocrinol (Oxf) 67:168-74. 2007
    ..The human homolog of the Acd gene, mutated in a mouse model of adrenal insufficiency, was sequenced in 25 patients with a clinical diagnosis of familial glucocorticoid deficiency or triple A syndrome...
  66. ncbi Linkage of one gene for familial glucocorticoid deficiency type 2 (FGD2) to chromosome 8q and further evidence of heterogeneity
    Emmanuelle Genin
    INSERM U535, Le Kremlin Bicetre, France
    Hum Genet 111:428-34. 2002
    ..This result suggests that at least one other gene, located on a different region, must be responsible for FGD in these families and provides new evidence of genetic heterogeneity of this disorder...
  67. ncbi Endocytosis of the AT1A angiotensin receptor is independent of ubiquitylation of its cytoplasmic serine/threonine-rich region
    Balázs Mihalik
    Department of Physiology, Faculty of Medicine, Semmelweis University, P O Box 259, H 1444 Budapest, Hungary
    Int J Biochem Cell Biol 35:992-1002. 2003
    ....
  68. ncbi Role of the proline-rich domain of dynamin-2 and its interactions with Src homology 3 domains during endocytosis of the AT1 angiotensin receptor
    Marta Szaszak
    Department of Physiology, Semmelweis University, Faculty of Medicine, H 1088 Budapest, Hungary
    J Biol Chem 277:21650-6. 2002
    ..This mechanism could be of general importance in dynamin-dependent endocytosis of other G protein-coupled receptors in nonneural tissues...
  69. ncbi ALADIN, but where's the genie?
    Richard W Orrell
    Neurology 58:847-8. 2002