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

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Items 201–300 of 436

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2. Analyzing the effects of co-expression of chick (Gallus gallus) melanocortin receptors with either chick MRAP1 or MRAP2 in CHO cells on sensitivity to ACTH(1–24) or ACTH(1–13)NH2: Implications for the avian HPA axis and avian melanocortin circuits in the hypothalamus
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3. Severe Cortisol Deficiency Associated with Reversible Growth Hormone Deficiency in Two Infants: What Is the Link?
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4. H295R expression of melanocortin 2 receptor accessory protein results in ACTH responsiveness
   Kazutaka Nanba, Andrew Chen, Adina F. Turcu, William E. Rainey · 2015 · Journal of Molecular Endocrinology
5. Interaction of the melanocortin 2 receptor with nucleoporin 50: evidence for a novel pathway between a G‐protein‐coupled receptor and the nucleus
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6. Genetics of primary macronodular adrenal hyperplasia
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7. Genetic aetiology of primary adrenal insufficiency in Chinese children
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8. The Adrenal Cortex
   Paul M. Stewart, John D C Newell-Price · 2016 · Elsevier eBooks
9. Analyzing the signaling properties of gar (Lepisosteus oculatus) melanocortin receptors: Evaluating interactions with MRAP1 and MRAP2
   Emily A. Wolverton, Marty Kwok‐Shing Wong, Perry E. Davis, Brianne E. Hoglin, Ingo Braasch, Robert M. Dores · 2019 · General and Comparative Endocrinology
10. Structural insights into the role of the ACTH receptor cysteine residues on receptor function
    Yingkui Yang, Min Chen, Robert A. Kesterson, Carroll M. Harmon · 2007 · American Journal of Physiology-Regulatory, Integrative and Comparative Physiology
11. Observations on the ligand selectivity of the melanocortin 2 receptor
    Veo, Kristopher, Reinick, Christina, Liang, Liang, Moser, Emily, Angleson, Joseph K., Dores, Robert M. · 2011 · General and Comparative Endocrinology
12. Melanocortin 4 receptor signaling and puberty onset regulation in Xiphophorus swordtails
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13. Adrenal Dysfunction in Mitochondrial Diseases
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14. Use of chimeric melanocortin-2 and -4 receptors to identify regions responsible for ligand specificity and dependence on melanocortin 2 receptor accessory protein
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15. From Bioinactive ACTH to ACTH Antagonist: The Clinical Perspective
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16. Pharmacological evaluation of MRAP proteins on Xenopus neural melanocortin signaling
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17. Topmouth culter melanocortin-3 receptor: regulation by two isoforms of melanocortin-2 receptor accessory protein 2
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18. Adrenocorticotropin hormone (ACTH) effects on MAPK phosphorylation in human fasciculata cells and in embryonic kidney 293 cells expressing human melanocortin 2 receptor (MC2R) and MC2R accessory protein (MRAP)β
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19. hMRAPa specifically alters hMC4R molecular mass and N-linked complex glycosylation in HEK293 cells
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20. Mice selected for extremes in stress reactivity reveal key endophenotypes of major depression: A translational approach
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21. Association of estradiol on expression of melanocortin receptors and their accessory proteins in the liver of chicken ( Gallus gallus )
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22. Targeting trafficking as a therapeutic avenue for misfolded GPCRs leading to endocrine diseases
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23. Regulation of Lipolytic Response and Energy Balance by Melanocortin 2 Receptor Accessory Protein (MRAP) in Adipocytes
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24. Pharmacological modulation of two melanocortin-5 receptors by MRAP2 proteins in zebrafish
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25. The Multifaceted Melanocortin Receptors
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26. Melanocortin receptor accessory protein 2 (MRAP2) interplays with the zebrafish melanocortin 1 receptor (MC1R) but has no effect on its pharmacological profile
    Raúl Cortés, Maria Josep Agulleiro, Sandra Navarro, Raúl Guillot, Elisa Sánchez, José Miguel Cerdá‐Reverter · 2014 · General and Comparative Endocrinology
27. Structure/function studies on the activation of the rainbow trout melanocortin-2 receptor
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28. Early vertebrate origin of melanocortin 2 receptor accessory proteins (MRAPs)
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29. Pharmacological properties of whale shark (Rhincodon typus) melanocortin-2 receptor and melancortin-5 receptor: Interaction with MRAP1 and MRAP2
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30. Regulation of Melanocortin-3 and -4 Receptors by Isoforms of Melanocortin-2 Receptor Accessory Protein 1 and 2
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31. Familial Glucocorticoid Deficiency Type 2: A Case Report - Case Report
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33. Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory protein
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36. Molecular determinants of ACTH receptor for ligand selectivity
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37. Hypothesis and Theory: Evaluating the Co-Evolution of the Melanocortin-2 Receptor and the Accessory Protein MRAP1
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38. The Adrenal Cortex and Its Disorders
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39. A Novel Adrenocorticotropin Receptor Mutation Alters Its Structure and Function, Causing Familial Glucocorticoid Deficiency
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40. Familial glucocorticoid deficiency: a diagnostic challenge during acute illness
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41. Disorders of the Hypothalamic–Pituitary–Adrenocortical System
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42. Pharmacological modulation of dual melanocortin‐4 receptor signaling by melanocortin receptor accessory proteins in the Xenopus laevis
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43. Escorts Take the Lead
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44. Functional Characterization of Melanocortin-3 Receptor in a Hibernating Cavefish Onychostoma macrolepis
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45. Discovery of MIRAGE syndrome
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46. Functional characterization of melanocortin-3 receptor in rainbow trout (Oncorhynchus mykiss)
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47. Estrogen Suppresses Interaction of Melanocortin 2 Receptor and Its Accessory Protein in the Primate Fetal Adrenal Cortex
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48. Familial Glucocorticoid Deficiency Type 1 due to a Novel Compound Heterozygous MC2R Mutation
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49. Functional characterization of two human receptor activity-modifying protein 3 variants
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50. Regulation of GPCR Anterograde Trafficking by Molecular Chaperones and Motifs
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51. Co-culture of monocytes and zona fasciculata adrenal cells: An in vitro model to study the immune-adrenal cross-talk
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52. Identification of a novel specific small-molecule melanocortin-2-receptor antagonist
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53. Diverse etiologies, diagnostic approach, and management of primary adrenal insufficiency in pediatric age
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54. Single transmembrane GPCR modulating proteins: neither single nor simple
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55. Loss of the C Terminus of Melanocortin Receptor 2 (MC2R) Results in Impaired Cell Surface Expression and ACTH Insensitivity
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56. Dynamics of ACTH-Mediated Regulation of Gene Transcription in ATC1 and ATC7 Adrenal Zona Fasciculata Cell Lines
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57. Transcriptomic Response Dynamics of Human Primary and Immortalized Adrenocortical Cells to Steroidogenic Stimuli
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58. Role of Chaperones in G Protein Coupled Receptor Signaling Complex Assembly
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59. G Protein–Coupled Receptors in Child Development, Growth, and Maturation
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60. Adrenal Insufficiency
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61. MRAP2 modifies the signaling and oligomerization state of the melanocortin-4 receptor
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62. Promiscuity among the MRAPs
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63. Evaluating interactions between the melanocortin-5 receptor, MRAP1, and ACTH(1–24): A phylogenetic study
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64. Single-Exon Deletions of ZNRF3 Exon 2 Cause Congenital Adrenal Hypoplasia
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65. Familial Glucocorticoid Deficiency in Five Arab Kindreds with Homozygous Point Mutations of the ACTH Receptor (MC2R): Genotype and Phenotype Correlations
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67. Functional consequence of a novel Y129C mutation in a patient with two contradictory melanocortin-2-receptor mutations
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70. Transcriptional activation of melanocortin 2 receptor accessory protein by PPARγ in adipocytes
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71. hMRAPα, but Not hMRAP2, Enhances hMC4R Constitutive Activity in HEK293 Cells and This Is Not Dependent on hMRAPα Induced Changes in hMC4R Complex N-linked Glycosylation
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72. Familial Glucocorticoid Deficiency: the changing landscape of an eponymous syndrome
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73. SCARB1 downregulation in adrenal insufficiency with Allgrove syndrome
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74. Analyzing the activation of the melanocortin-2 receptor of tetrapods
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75. Melanocortin 3 Receptor Has a 5′ Exon That Directs Translation of Apically Localized Protein From the Second In-Frame ATG
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76. Adrenocorticotrophin
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77. Familial Glucocorticoid Deficiency with a Point Mutation in the ACTH Receptor: A Case Report
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78. Dual Topology of the Melanocortin-2 Receptor Accessory Protein Is Stable
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79. Enfermedades de la corteza suprarrenal
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80. Monitoring GPCR–Protein Complexes Using Bioluminescence Resonance Energy Transfer
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81. STAR mutations causing non‑classical lipoid adrenal hyperplasia manifested as familial glucocorticoid deficiency
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86. Regulation of melanocortin-5 receptor pharmacology by two isoforms of MRAP2 in ricefield eel (Monopterus albus)
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97. Rare monogenic causes of primary adrenal insufficiency
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100. Isolated Addison's disease is unlikely to be caused by mutations in MC2R, MRAP or STAR, three genes responsible for familial glucocorticoid deficiency
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