A Novel Point Mutation of the Human Glucocorticoid Receptor Gene Causes Primary Generalized Glucocorticoid Resistance through Reduced Flexibility of Helix 10 of the Ligand-Binding Domain of the Receptor and Decreased Affinity for the Ligand

被引:0
|
作者
Nicolaides, Nicolas C. [1 ]
Geer, Eliza B. [2 ]
Vlachakis, Dimitrios [1 ]
Sertedaki, Amalia [3 ]
Bakopoulou, Ioanna [3 ]
Kossida, Sophia [1 ]
Chrousos, George P. [3 ]
Charmandari, Evangelia [3 ]
机构
[1] Acad Athens, Biomed Res Fdn, Athens, Greece
[2] Mt Sinai Sch Med, New York, NY USA
[3] Univ Athens, Sch Med, Athens, Greece
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
MON-0804
引用
收藏
页数:2
相关论文
共 31 条
  • [1] A Novel Point Mutation in the Helix 10 of the Human Glucocorticoid Receptor Causes Generalized Glucocorticoid Resistance by Disrupting the Structure of the Ligand-Binding Domain
    Nader, N.
    Bachrach, B. E.
    Hurt, D. E.
    Gajula, S.
    Pittman, A.
    Lescher, R.
    Kino, T.
    [J]. ENDOCRINE REVIEWS, 2010, 31 (03)
  • [2] A Novel Point Mutation in Helix 10 of the Human Glucocorticoid Receptor Causes Generalized Glucocorticoid Resistance by Disrupting the Structure of the Ligand-Binding Domain
    Nader, Nancy
    Bachrach, Bert E.
    Hurt, Darrell E.
    Gajula, Sonia
    Pittman, Amy
    Lescher, Rachel
    Kino, Tomoshige
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2010, 95 (05): : 2281 - 2285
  • [3] A novel point mutation in the ligand-binding domain of the human glucocorticoid receptor gene causing primary generalized glucocorticoid resistance
    Sertedaki, Amalia
    Braatvedt, Geoff
    Galata, Zoi
    Nicolaides, Nicolas C.
    Chrousos, George P.
    Charmandari, Evangelia
    [J]. HORMONE RESEARCH, 2009, 72 : 346 - 346
  • [4] A novel point mutation in helix 11 of the ligand-binding domain of the human glucocorticoid receptor gene causing generalized glucocorticoid resistance
    Charmandari, Evangelia
    Kino, Tomoshige
    Ichijo, Takamasa
    Jubiz, William
    Mejia, Liliana
    Zachman, Keith
    Chrousos, George P.
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2007, 92 (10): : 3986 - 3990
  • [5] A novel point mutation in the ligand-binding domain of the human glucocorticoid receptor (hGR) in a patient with glucocorticoid resistance
    Cannavo, Salvatore
    Karl, Michael
    Santarpia, Libero
    Facchiano, Angelo
    Marabotti, Anna
    Trimarchi, Francesco
    Benvenga, Salvatore
    [J]. INTERNATIONAL JOURNAL ON DISABILITY AND HUMAN DEVELOPMENT, 2007, 6 (01): : 105 - 112
  • [6] A novel point mutation in the ligand-binding domain (LBD) of the human glucocorticoid receptor (hGR) causing generalized glucocorticoid resistance: The importance of the C terminus of hGR LBD in conferring transactivational activity
    Charmandari, E
    Raji, A
    Kino, T
    Ichijo, T
    Tiulpakov, A
    Zachman, K
    Chrousos, GP
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2005, 90 (06): : 3696 - 3705
  • [7] A Natural Mutation in Helix 5 of the Ligand Binding Domain of Glucocorticoid Receptor Enhances Receptor-Ligand Interaction
    Reyer, Henry
    Ponsuksili, Siriluck
    Kanitz, Ellen
    Poehland, Ralf
    Wimmers, Klaus
    Murani, Eduard
    [J]. PLOS ONE, 2016, 11 (10):
  • [8] Screening the binding affinity of bile acid derivatives for the glucocorticoid receptor ligand-binding domain
    Bjedov, Srdan
    Bekic, Sofija
    Marinovic, Maja
    Skoric, Dusan
    Pavlovic, Ksenija
    Celic, Aandelka
    Petri, Edward
    Sakac, Marija
    [J]. JOURNAL OF THE SERBIAN CHEMICAL SOCIETY, 2023, 88 (02) : 123 - 139
  • [9] A Novel Point Mutation in the DNA-Binding Domain (DBD) of the Human Glucocorticoid Receptor Causes Primary Generalized Glucocorticoid Resistance by Disrupting the Hydrophobic Structure of its DBD
    Roberts, Michael L.
    Kino, Tomoshige
    Nicolaides, Nicolas C.
    Hurt, Darrell E.
    Katsantoni, Eleni
    Sertedaki, Amalia
    Komianou, Filadelfia
    Kassiou, Korina
    Chrousos, George P.
    Charmandari, Evangelia
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2013, 98 (04): : E790 - E795
  • [10] Point mutation I634A in the glucocorticoid receptor causes embryonic lethality by reduced ligand binding
    Timmermans, Steven
    Verhoog, Nicolette J. D.
    Van Looveren, Kelly
    Dewaele, Sylviane
    Hochepied, Tino
    Eggermont, Melanie
    Gilbert, Barbara
    Boerema-de Munck, Anne
    Vanderhaeghen, Tineke
    Vanden Berghe, Joke
    Gonzalez, Natalia Garcia
    Vandewalle, Jolien
    Bloch, Yehudi
    Provost, Mathias
    Savvides, Savvas N.
    De Bosscher, Karolien
    Declercq, Wim
    Rottier, Robbert J.
    Louw, Ann
    Libert, Claude
    [J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 2022, 298 (02)