Point mutation causing a single amino acid substitution in the hormone binding domain of the glucocorticoid receptor in familial glucocorticoid resistance

Cited by (369)

Items 101–200 of 369

  1. Chrousos syndrome: a seminal report, a phylogenetic enigma and the clinical implications of glucocorticoid signalling changes
    Evangelia Charmandari, Tomoshige Kino · 2010 · European Journal of Clinical Investigation
  2. Mechanisms of Glucocorticoid‐Resistant Asthmaa
    Donald Y.M. Leung, Margaret de Castro, Stanley James Szefler, George Panagiotis Chrousos · 1998 · Annals of the New York Academy of Sciences
  3. Characterization of a promoter polymorphism in the glucocorticoid receptor gene and its relationship to three other polymorphisms
    Elisabeth F. C. van Rossum, Petronella H. M. Roks, Frank H. de Jong, Albert O. Brinkmann, H. A. P. Pols, Jan Willem Koper, Steven W. J. Lamberts · 2004 · Clinical Endocrinology
  4. The Role of Hormones, Growth Factors and Their Receptors in Pituitary Tumorigenesis
    Shereen Ezzat · 2001 · Brain Pathology
  5. Syndromes of glucocorticoid and mineralocorticoid resistance
    Keiko Arai, George P. Chrousos · 1995 · Steroids
  6. Natural variants of the β isoform of the human glucocorticoid receptor do not alter sensitivity to glucocorticoids
    Pieter de Lange, Jan Willem Koper, Albert O. Brinkmann, Frank H. De Jong, Steven W. J. Lamberts · 1999 · Molecular and Cellular Endocrinology
  7. Primary Generalized Glucocorticoid Resistance and Hypersensitivity Syndromes: A 2021 Update
    Nicolas C. Nicolaides, Evangelia Charmandari · 2021 · International Journal of Molecular Sciences
  8. Corticosteroid insensitivity in severe asthma: significance, mechanisms and aetiology
    Mark J Hew, Kian Fan Chung · 2010 · Internal Medicine Journal
  9. The cellular and molecular basis of the ectopic ACTH syndrome
    Anne E. White, A. J. L. Clark · 1993 · Clinical Endocrinology
  10. Transcriptional regulation of gene expression: Mechanisms and pathophysiology
    Gregg L. Semenza · 1994 · Human Mutation
  11. Pseudohypoaldosteronism: molecular characterization of the mineralocorticoid receptor
    Paul A. Komesaroff, Karen Verity, Peter J. Fuller · 1994 · The Journal of Clinical Endocrinology & Metabolism
  12. Nuclear receptor superfamily: Principles of signaling
    Germain, Pierre, Altucci, Lucia, Bourguet, William, Rochette-Egly, C., Gronemeyer, Hinrich · 2003 · Pure and Applied Chemistry
  13. Structural Determinants of Cortisol Resistance in the Guinea Pig Glucocorticoid Receptor1
    Maria-Cristina Keightley, Andrea J. Curtis, Simon Chu, Peter J. Fuller · 1998 · Endocrinology
  14. Novel insights into the molecular mechanisms underlying generalized glucocorticoid resistance and hypersensitivity syndromes
    Nicolaides, Nicolas C., Charmandari, Evangelia · 2017 · Hormones
  15. Primary Generalized Glucocorticoid Resistance and Hypersensitivity
    Evangelia Charmandari · 2011 · Hormone Research in Paediatrics
  16. Anomalies in the Endocrine Axes of the Guinea Pig: Relevance to Human Physiology and Disease*
    Maria-Cristina Keightley, Peter J. Fuller · 1996 · Endocrine Reviews
  17. The Adrenal Cortex and its Disorders
    Walter L. Miller · 2009 · Wiley eBooks
  18. Familial/Sporadic Glucocorticoid Resistance Syndrome and Hypertension
    Tomoshige Kino, Alessandra Vottero, Evangelia Charmandari, George Panagiotis Chrousos · 2002 · Annals of the New York Academy of Sciences
  19. Retinoic acid receptor and retinoid X receptor expression in retinoic acid—resistant human tumor cell lines
    Bas‐jan M. van der Leede, Christina E. Van Den Brink, Paul T. van der Saag · 1993 · Molecular Carcinogenesis
  20. Association and Linkage Analyses of Glucocorticoid Receptor Gene Markers in Essential Hypertension
    Ruby C.Y. Lin, William Y.S. Wang, Brian J. Morris · 1999 · Hypertension
  21. GR
    Vincent Laudet, Hinrich Gronemeyer · 2002 · Elsevier eBooks
  22. Significant prevalence of NR3C1 mutations in incidentally discovered bilateral adrenal hyperplasia: results of the French MUTA-GR Study
    Géraldine Vitellius, Séverine Trabado, Christine Caroline Hoeffel, Jérôme Bouligand, Antoine Bennet, Frédéric Castinetti, Bénédicte Decoudier, Anne Guiochon‐Mantel, Marc Lombès, Brigitte Delemer et al. · 2018 · European Journal of Endocrinology
  23. The Glucocorticoid Receptor and RU 486 in Man
    BAMBERGER, CHRISTOPH M., CHROUSOS, GEORGE P. · 1995 · Annals of the New York Academy of Sciences
  24. Function/Activity of Specific Amino Acids in Glucocorticoid Receptors
    S. Stoney Simons · 1994 · Vitamins and hormones
  25. The Glucocorticoid Receptor and its Expression in the Anterior Pituitary and the Adrenal Cortex: A Source of Variation in Hypothalamic-Pituitary-Adrenal Axis Function; Implications for Pituitary and Adrenal Tumors
    Briassoulis, George, Damjanovic, Svetozar, Xekouki, Paraskevi, Lefebvre, Hervé, Stratakis, Constantine A. · 2011 · Endocrine Practice
  26. Adrenocortical hyperplasia: A multifaceted disease
    Bourdeau, Isabelle, Parisien-La Salle, Stéfanie, Lacroix, André · 2020 · Best Practice & Research Clinical Endocrinology & Metabolism
  27. Glucocorticoid Feedback Resistance
    E. R. de Kloet, Erno Vreugdenhil, Melly Silvana Oitzl, Marian Joëls · 1997 · Trends in Endocrinology and Metabolism
  28. Glucocorticoid receptors and Cushing's disease
    Steven W. J. Lamberts · 2002 · Molecular and Cellular Endocrinology
  29. Cortisol resistance and the guinea pig glucocorticoid receptor
    Maria-Cristina Keightley, Peter J. Fuller · 1995 · Steroids
  30. Between Candidate Genes and Whole Genomes: Time for Alternative Approaches in Blood Pressure Genetics
    Jacob Basson, Jeannette M Simino, D. C. Rao · 2011 · Current Hypertension Reports
  31. Adrenal cortex and its disorders
    Walter L. Miller, Christa E. Flück · 2014 · Elsevier eBooks
  32. Strategies for the Characterization of Disorders in Cortisol Sensitivity
    Russcher, Henk, Smit, Pauline, van Rossum, Elisabeth F. C., van den Akker, Erica L. T., Brinkmann, Albert O., de Heide, Loek J. M., de Jong, Frank H., Koper, Jan W., Lamberts, Steven W. J. · 2006 · The Journal of Clinical Endocrinology & Metabolism
  33. Genetic variation in the glucocorticoid pathway involved in interindividual differences in the glucocorticoid treatment
    Song, Qian-Qian, Xie, Wan-Ying, Tang, Yong-Jun, Zhang, Jun, Liu, Jie · 2017 · Pharmacogenomics
  34. Pharmacogenetic approaches in the treatment of asthma
    Ian Sayers, Ian P. Hall · 2005 · Current Allergy and Asthma Reports
  35. A novel mutation of the hGR gene causing Chrousos syndrome
    Nicolas C. Nicolaides, Eliza Brevoort Geer, Dimitriοs Vlachakis, Michael L. Roberts, Anna‐Maria G. Psarra, Paraskevi Moutsatsou, Amalia Sertedaki, Σοφία Κοσσίδα, Evangelia Charmandari · 2015 · European Journal of Clinical Investigation
  36. A 5-year follow-up study of 3 polymorphisms in the human glucocorticoid receptor gene in relation to obesity, hypertension, and diabetes
    Rosmond, Roland, Holm, Göran · 2008 · Journal of the CardioMetabolic Syndrome
  37. Genetic disorders of nuclear receptors
    John C. Achermann, John W. R. Schwabe, Louise Fairall, Krishna Chatterjee · 2017 · Journal of Clinical Investigation
  38. The phase-shift mutation in the glucocorticoid receptor gene: potential etiologic significance of neuroendocrine mechanisms in lupus nephritis
    Tang Jiang, Shuangxin Liu, Min Tan, Fengxian Huang, Yuling Sun, Xiouqing Dong, Weiming Guan, Linghong Huang, Feiyu Zhou · 2001 · Clinica Chimica Acta
  39. Novel mutations in the estrogen receptor messenger RNA in human breast cancers
    Leigh C. Murphy, Min Wang, A Coutt, Helmut Dotzlaw · 1996 · The Journal of Clinical Endocrinology & Metabolism
  40. Glucocorticoid receptor abnormalities in fibroblasts from patients with idiopathic resistance to dexamethasone diagnosed when evaluated for adrenocortical disorders
    S Werner, Magnus Thoren, Jan-Ακε Gustafsson, M Brönnegård · 1992 · The Journal of Clinical Endocrinology & Metabolism
  41. Hormone binding domain of human glucocorticoid receptor. Enhancement of transactivation function by substitution mutants M565R and A573Q.
    Nalini Warriar, Cheng‐Ping Yu, M.V. Govindan · 1994 · Journal of Biological Chemistry
  42. Glucocorticosteroid Resistance in Humans. Elucidation of the Molecular Mechanisms and Implications for Pathophysiology
    Constantine A. Stratakis, Michael Karl, Heinrich M. Schulte, George P. Chrousos · 1994 · Annals of the New York Academy of Sciences
  43. Molecular basis of glucocorticoid-resistant syndromes
    Sigbritt Werner, Mikael Brönnegård · 1996 · Steroids
  44. Inherited forms of mineralocorticoid hypertension
    Zaki K Hassan-Smith, Paul M. Stewart · 2011 · Current Opinion in Endocrinology Diabetes and Obesity
  45. Glucocorticoid resistance syndrome caused by a novel NR3C1 point mutation
    Reem Al Argan, Avi Saskin, Ji Wei Yang, Daniela D’Agostino, Juan Rivera · 2018 · Endocrine Journal
  46. Pharmacogenetics and asthma: false hope or new dawn?: Table 1—
    Ian P. Hall, Ian Sayers · 2007 · European Respiratory Journal
  47. Thyroid Hormone Receptor-β Mutations Conferring Hormone Resistance and Reduced Corepressor Release Exhibit Decreased Stability in the N-Terminal Ligand-Binding Domain
    Bertrand R. Huber, Marion Desclozeaux, Brian L. West, Suzana Telles da Cunha Lima, Hoa Trong Nguyen, John D. Baxter, Holly A. Ingraham, Robert J. Fletterick · 2003 · Molecular Endocrinology
  48. Familial and iatrogenic cortisol receptor resistance
    Steven W. J. Lamberts, Jan Willem Koper, Frank H. de Jong · 1992 · The Journal of Steroid Biochemistry and Molecular Biology
  49. Glucocorticoid Receptor Mutants Demonstrate Increased Motility Inside the Nucleus of Living Cells: Time of Fluorescence Recovery After Photobleaching (FRAP) Is an Integrated Measure of Receptor Function
    Tomoshige Kino, Szu-Heng Liou, Evangelia Charmandari, George Panagiotis Chrousos · 2004 · Molecular Medicine
  50. Primary aldosteronism. Part II Differential diagnosis of primary hyperaldosteronism and pseudoaldosteronism
    Michel B. Vallotton · 1996 · Clinical Endocrinology
  51. Recent advances in the molecular mechanisms causing primary generalized glucocorticoid resistance
    Nicolas C. Nicolaides, Agaristi Lamprokostopoulou, Amalia Sertedaki, Evangelia Charmandari · 2016 · HORMONES
  52. Human Adrenocorticotropin-Secreting Pituitary Adenomas Show Frequent Loss of Heterozygosity at the Glucocorticoid Receptor Gene Locus
    Nannette A. T. M. Huizenga · 1998 · The Journal of Clinical Endocrinology & Metabolism
  53. The multivalency of the glucocorticoid receptor ligand-binding domain explains its manifold physiological activities
    Alba Jiménez‐Panizo, Andrea Alegre‐Martí, Theophilus T. Tettey, Grégory Fettweis, Montserrat Abella, Rosa Isabel Antón, Thomas A. Johnson, Sohyoung Kim, R. Louis Schiltz, Israel Barrios-Núñez et al. · 2022 · Nucleic Acids Research
  54. Generalized and tissue specific glucocorticoid resistance
    Clarissa Silva Martins, Margaret de Castro · 2021 · Molecular and Cellular Endocrinology
  55. [Molecular aspects of glucocorticoid sensitivity].
    C. Faria, C. Longui · 2006 · Arquivos brasileiros de endocrinologia e metabologia
  56. Glucocorticoid receptor gene polymorphisms in ACTH‐secreting pituitary tumours
    Sonir Roberto Rauber Antonini, Ana Cláudia Latronico, Lucila Leico Kagohara Elias, Arthur Cukiert, Hélio Rubens Machado, Bernardo Liberman, Berenice Bilharinho Mendonca, Ayrton Custódio Moreira, Margaret de Castro · 2002 · Clinical Endocrinology
  57. Glucocorticoid-resistant B-lymphoblast cell line derived from the Bolivian squirrel monkey (Saimiri boliviensis boliviensis).
    Philip D. Reynolds, Kelly P. Roveda, J. Allan Tucker, Charleen M. Moore, Donna L. Valentine, Jonathan G. Scammell · 1998 · PubMed
  58. Pathophysiology of adrenal hypertension
    Miroslava H. Moneva, Celso E. Gómez-Sánchez · 2002 · Seminars in Nephrology
  59. Adrenal Androgen Secretion in Postadolescent Acne: Increased Adrenocortical Function without Hypersensitivity to Adrenocorticotropin
    Louisa Laue, Gary L. Peck, D. Lynn Loriaux, William T. Gallucci, George Panagiotis Chrousos · 1991 · The Journal of Clinical Endocrinology & Metabolism
  60. New insights into steroid resistant asthma
    Donald Y.M. Leung, Stanley James Szefler · 1998 · Pediatric Allergy and Immunology
  61. Mutation of isoleucine 747 by a threonine alters the ligand responsiveness of the human glucocorticoid receptor
    Sophie Roux, Béatrice Térouanne, Patrick Balaguer, N Jausons-Loffreda, Michel Pons, Pierre Chambon, Hinrich Gronemeyer, Jean‐Claude Nicolas · 1996 · Molecular Endocrinology
  62. Two Resistance to Thyroid Hormone Mutants with Impaired Hormone Binding
    Bertrand R. Huber, Ben Sandler, Brian L. West, Suzana Telles da Cunha Lima, Hoa Trong Nguyen, James W. Apriletti, John D. Baxter, Robert J. Fletterick · 2003 · Molecular Endocrinology
  63. The structure of glucocorticoid receptors
    Ulrich Gehring · 1993 · The Journal of Steroid Biochemistry and Molecular Biology
  64. Impaired 11β-Hydroxysteroid Dehydrogenase Type 2 in Glucocorticoid-Resistant Patients
    Géraldine Vitellius, Brigitte Delemer, Philippe Jean Caron, Olivier Chabre, Jérôme Bouligand, Eric Pussard, Séverine Trabado, Marc Lombès · 2019 · The Journal of Clinical Endocrinology & Metabolism
  65. Steroid hormone receptor gene polymorphisms and osteoporosis: a pharmacogenomic review
    Luigi Gennari, Vincenzo De Paola, Daniela Merlotti, Giuseppe Martini, Ranuccio Nuti · 2007 · Expert Opinion on Pharmacotherapy
  66. Relationship between glucocorticoid receptor and response to glucocorticoid therapy in ulcerative colitis
    Takenobu Shimada, Nobuo Hiwatashi, Hideo Yamazaki, Yoshitaka Kinouchi, Takayoshi Toyota · 1997 · Diseases of the Colon & Rectum
  67. The Adrenal Cortex and Its Disorders
    Walter L. Miller, John C. Achermann, Christa E. Flück · 2008 · Elsevier eBooks
  68. Decreased ligand affinity rather than glucocorticoid receptor down-regulation in patients with endogenous Cushing's syndrome
    Nannette A. T. M. Huizenga, WW de Herder, JW Koper, Pieter de Lange, D AJ v Lely, A O Brinkmann, de Jong Fh, SW Lamberts · 2000 · European Journal of Endocrinology
  69. The pharmacogenetics of asthma: a candidate gene approach
    Eric S. Silverman, Stephen B. Liggett, Erwin W. Gelfand, Lanny J. Rosenwasser, Rebecca Marlene Baron, Stacey Gabriel, Scott T. Weiss, Jeffrey M. Drazen · 2001 · The Pharmacogenomics Journal
  70. Mineralocorticoid insufficiency due to suramin therapy
    Ken Kobayashi, Roy E. Weiss, Nicholas J. Vogelzang, Everett E. Vokes, Linda A. Janisch, Mark J. Ratain · 1996 · Cancer
  71. Quaternary glucocorticoid receptor structure highlights allosteric interdomain communication
    Sandra Postel, Lisa Wissler, Carina A. Johansson, Anders Gunnarsson, Euan Gordon, Barry Collins, Marie Castaldo, Christian Köhler, David Öling, Patrik Johansson et al. · 2023 · Nature Structural & Molecular Biology
  72. Familial Glucocorticoid Resistance Caused by a Novel Frameshift Glucocorticoid Receptor Mutation
    Peter Trebble, Laura C. Matthews, John Blaikley, A. W. O. Wayte, Graeme Charles M. Black, Anthony Wilton, David William Ray · 2010 · The Journal of Clinical Endocrinology & Metabolism
  73. Generalized glucocorticoid resistance caused by a novel two-nucleotide deletion in the hormone-binding domain of the glucocorticoid receptor gene NR3C1
    Kati M. Donner, Timo P. Hiltunen, Olli A. Jänne, Timo Sane, Kimmo Kontula · 2012 · European Journal of Endocrinology
  74. Thyroid hormone resistance: mechanisms and therapeutic development
    Yao, Benqiang, Yang, Chunyan, Pan, Chengxi, Li, Yong · 2022 · Molecular and Cellular Endocrinology
  75. Uncovering a multitude of human glucocorticoid receptor variants: an expansive survey of a single gene
    Stacey M. Leventhal, Debora Lim, Tajia L. Green, Anna E. Cantrell, Kiho Cho, David G. Greenhalgh · 2019 · BMC Genetics
  76. Molecular Mechanisms of Clucocorticoid Resistance/Hypersensitivity: Potential Clinical Implications
    George Panagiotis Chrousos, Margaret de Castro, Donald Y.M. Leung, Elizabeth Webster, Tomoshige Kino, Christoph M. Bamberger, Sharon J. Elliot, Constantine A. Stratakis, Michael Karl · 1996 · American Journal of Respiratory and Critical Care Medicine
  77. Clinical and molecular aspects of glucocorticoid resistant asthma.
    Christopher John Corrigan, Tuck-Kay Loke · 2007 · PubMed Central
  78. Adrenal Hyperandrogenism in Children
    Ghizzoni, L. · 1999 · Journal of Clinical Endocrinology & Metabolism
  79. Functional characterization of the hGRαT556I causing Chrousos syndrome
    Nicolas C. Nicolaides, Eirini Skyrla, Dimitriοs Vlachakis, Anna‐Maria G. Psarra, Paraskevi Moutsatsou, Amalia Sertedaki, Σοφία Κοσσίδα, Evangelia Charmandari · 2015 · European Journal of Clinical Investigation
  80. Regulated activity of the distal promoter-like element of the human corticotropin-releasing hormone gene and secondary structural features of its corresponding transcripts
    Nicholas C. Vamvakopoulos, George P. Chrousos · 1993 · Molecular and Cellular Endocrinology
  81. The genetic basis of glucocorticoid resistance
    Mikael Brönnegård, Jan Carlstedt‐Duke · 1995 · Trends in Endocrinology and Metabolism
  82. Glucocorticoid receptor alpha and beta isoforms are not mutated in bipolar affective disorder
    Paraskevi Moutsatsou, Amalia F. Tsolakidou, George Trikkas, Constantin Troungos, C.E. Sekeris · 2000 · Molecular Psychiatry
  83. The Biologist’s Guide to the Glucocorticoid Receptor’s Structure
    Nick Deploey, Laura Van Moortel, Inez Rogatsky, Frank Peelman, Karolien De Bosscher · 2023 · Cells
  84. Personalised Medicine and Asthma Diagnostics/Management
    Samuel J. Wadsworth, Andrew J. Sandford · 2012 · Current Allergy and Asthma Reports
  85. Glucocorticoid Resistance and Hypersensitivity
    Carl D. Malchoff, Diana Mark Malchoff · 2005 · Endocrinology and Metabolism Clinics of North America
  86. A Mutation of the Glucocorticoid Receptor Gene in Patients with Systemic Lupus Erythematosus
    Young Moo Lee, Junko Fujiwara, Yasuhiko Munakata, Tomonori Ishii, Akira Sugawara, Mitsuo Kaku, Shoichi Kokubun, Takeshi Sasaki, Tadao Funato · 2004 · The Tohoku Journal of Experimental Medicine
  87. A variant of the glucocorticoid receptor gene is not associated with adrenal androgen excess in women with polycystic ovary syndrome
    Melissa Kahsar-Miller, Ricardo Azziz, Eleanor Feingold, Selma Feldman Witchel · 2000 · Fertility and Sterility
  88. Genotype predictors of response to asthma medications
    Ladina Joos, Andrew J. Sandford · 2002 · Current Opinion in Pulmonary Medicine
  89. A model for the determination of the 3D-spatial distribution of the functions of the hormone-binding domain of receptors that bind 3-keto-4-ene steroids
    L. Lemesle-Varloot, Tiiu Ojasoo, Jean‐Paul Mornon, Jean‐Pierre Raynaud · 1992 · The Journal of Steroid Biochemistry and Molecular Biology
  90. Seasonal variation in glucocorticoid receptor binding characteristics in human mononuclear leucocytes
    Guthrie Blackhurst, Philip K McElroy, R. Fräser, R. Swan, J. M. C. Connell · 2001 · Clinical Endocrinology
  91. In Vivo Resistance to Glucocorticoid-Induced Apoptosis in Rat Thymocytes with Normal Steroid Receptor Function in Vitro
    Nicklas B.E. Oldenburg, Rosemary B. Evans-Storms, John Anthony Cidlowski · 1997 · Endocrinology
  92. Single Nucleotide Variations of the Human GR Gene Manifested as Pathologic Mutations or Polymorphisms
    Tomoshige Kino · 2018 · Endocrinology
  93. Steroid resistance in the squirrel monkey: an old subject revisited.
    J. Scammell · 2000 · ILAR journal
  94. Low expression of glucocorticoid receptors in children with steroid-resistant nephrotic syndrome
    Ayman Mohammad Hammad, Sohier Yahia, Mona S. O. Gouida, Ashraf Bakr, Reham M. El-Farahaty · 2013 · Pediatric Nephrology
  95. Glucocorticoid Resistance
    Nicolas C. Nicolaides, Evangelia Charmandari · 2019 · Experientia supplementum
  96. Hypothalamic-Pituitary-Adrenal Axis
    Ioannis Kyrou, Constantine Tsigos · 2005 · Springer eBooks
  97. Structural Analysis on the Pathologic Mutant Glucocorticoid Receptor Ligand-Binding Domains
    Darrell E. Hurt, Shigeru Suzuki, Takafumi Mayama, Evangelia Charmandari, Tomoshige Kino · 2016 · Molecular Endocrinology
  98. The Steroid Resistance of Crohn's Disease
    Geltrude Mingrone, Andrea De Gaetano, M. Pugeat, Esmeralda Capristo, A V Greco, G Gasbarrini · 1999 · Journal of Investigative Medicine
  99. Clinical outcomes of steroid-insensitive asthma
    Frederick S. Wamboldt, Joseph D. Spahn, Mary D. Klinnert, Marianne Z. Wamboldt, Leslie A. Gavin, Stanley James Szefler, Donald Y.M. Leung · 1999 · Annals of Allergy Asthma & Immunology
  100. 5 Glucocorticoid resistance
    Keiko Arai, George Panagiotis Chrousos · 1994 · Baillière s Clinical Endocrinology and Metabolism