A novel point mutation in the ligand-binding domain of the human glucocorticoid receptor gene causing primary generalized glucocorticoid resistance

被引：0
|
作者：
Sertedaki, Amalia [1 ,3 ]
Braatvedt, Geoff [2 ]
Galata, Zoi [1 ]
Nicolaides, Nicolas C. [1 ]
Chrousos, George P. [1 ,3 ]
Charmandari, Evangelia [1 ,3 ]
机构：
[1] Acad Athens, Biomed Res Fdn, Div Endocrinol & Metab, Athens, Greece
[2] Univ Auckland, Dept Med, Auckland, New Zealand
[3] Univ Athens, Sch Med, Aghia Sophia Childrens Hosp, Dept Pediat 1, GR-11527 Athens, Greece
来源：
HORMONE RESEARCH | 2009年 / 72卷
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：
引用
收藏
页码：346 / 346
页数：1
相关论文
共 50 条
  • [21] A Novel Pathogenic Variant in the N-Terminal Domain of the Glucocorticoid Receptor, Causing Glucocorticoid Resistance
    Paragliola, Rosa Maria
    Costella, Alessandra
    Corsello, Andrea
    Urbani, Andrea
    Concolino, Paola
    [J]. MOLECULAR DIAGNOSIS & THERAPY, 2020, 24 (04) : 473 - 485
  • [22] PCR expression mutagenesis: a high-throughput mutation assay applied to the glucocorticoid receptor ligand-binding domain
    Chen, J
    Blackford, JA
    Simons, SS
    [J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2004, 321 (04) : 893 - 899
  • [23] A Novel Point Mutation of the Human Glucocorticoid Receptor Gene Causes Primary Generalized Glucocorticoid Resistance Through Impaired Interaction With the LXXLL Motif of the p160 Coactivators: Dissociation of the Transactivating and Transreppressive Activities
    Nicolaides, Nicolas C.
    Roberts, Michael L.
    Kino, Tomoshige
    Braatvedt, Geoffrey
    Hurt, Darrell E.
    Katsantoni, Eleni
    Sertedaki, Amalia
    Chrousos, George P.
    Charmandari, Evangelia
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2014, 99 (05): : E902 - E907
  • [24] Homology modelling of the ligand-binding domain of glucocorticoid receptor: binding site interactions with cortisol and corticosterone
    Dey, R
    Roychowdhury, P
    Mukherjee, C
    [J]. PROTEIN ENGINEERING, 2001, 14 (08): : 565 - 571
  • [25] Deciphering the structural basis for glucocorticoid resistance caused by missense mutations in the ligand binding domain of glucocorticoid receptor
    Monteiro, L. L. S.
    Franco, O. L.
    Alencar, S. A.
    Porto, W. F.
    [J]. JOURNAL OF MOLECULAR GRAPHICS & MODELLING, 2019, 92 : 216 - 226
  • [26] The multivalency of the glucocorticoid receptor ligand-binding domain explains its manifold physiological activities
    Jimenez-Panizo, Alba
    Alegre-Marti, Andrea
    Tettey, Theophilus T.
    Fettweis, Gregory
    Abella, Montserrat
    Anton, Rosa
    Johnson, Thomas A.
    Kim, Sohyoung
    Schiltz, R. Louis
    Nunez-Barrios, Israel
    Font-Diaz, Joan
    Caelles, Carme
    Valledor, Annabel F.
    Perez, Paloma
    Rojas, Ana M.
    Fernandez-Recio, Juan
    Presman, Diego M.
    Hager, Gordon L.
    Fuentes-Prior, Pablo
    Estebanez-Perpina, Eva
    [J]. NUCLEIC ACIDS RESEARCH, 2022, 50 (22) : 13063 - 13082
  • [27] A novel mutation in the glucocorticoid receptor gene as a cause of severe glucocorticoid resistance complicated by hypertensive encephalopathy
    Tatsi, Christina
    Xekouki, Paraskevi
    Nioti, Olga
    Bachrach, Bert
    Belyavskaya, Elena
    Lyssikatos, Charalampos
    Stratakis, Constantine A.
    [J]. JOURNAL OF HYPERTENSION, 2019, 37 (07) : 1475 - 1481
  • [28] A MUTATION OF THE GLUCOCORTICOID RECEPTOR IN PRIMARY CORTISOL RESISTANCE
    MALCHOFF, DM
    BRUFSKY, A
    REARDON, G
    MCDERMOTT, P
    JAVIER, EC
    BERGH, CH
    ROWE, D
    MALCHOFF, CD
    [J]. JOURNAL OF CLINICAL INVESTIGATION, 1993, 91 (05): : 1918 - 1925
  • [29] Sequence variants of the ligand-binding domain of the glucocorticoid receptor gene and their functional consequences on the three dimensional protein structure
    Likó, I
    Igaz, P
    Patócs, A
    Tóth, S
    Pázmány, T
    Tóth, M
    Rácz, K
    [J]. CURRENT MEDICINAL CHEMISTRY, 2004, 11 (24) : 3229 - 3237
  • [30] Familial Glucocorticoid Resistance Caused by a Novel Frameshift Glucocorticoid Receptor Mutation
    Trebble, P.
    Matthews, L.
    Blaikley, J.
    Wayte, A. W. O.
    Black, G. C. M.
    Wilton, A.
    Ray, D. W.
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2010, 95 (12): : E490 - E499
12345