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A novel mutation of the hGR gene causing Chrousos syndrome
Nicolas C. Nicolaides
,
Eliza B. Geer
, Dimitrios Vlachakis
, Michael L. Roberts
, Anna Maria G. Psarra
, Paraskevi Moutsatsou
, Amalia Sertedaki
, Sophia Kossida
, Evangelia Charmandari
Icahn School of Medicine at Mount Sinai
Research output
:
Contribution to journal
›
Article
›
peer-review
36
Scopus citations
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Keyphrases
Glucocorticoid Receptor Gene
100%
Novel mutation
100%
Human Glucocorticoid Receptor
100%
Chrousos Syndrome
100%
Glucocorticoid Signaling
66%
Natural mutant
66%
Molecular Mechanism
33%
Arginine
33%
Histidine
33%
Hirsutism
33%
Clinical Manifestations
33%
Receptor-interacting Protein Kinase 1 (RIPK1)
33%
Adrenocorticotropic Hormone
33%
Three-dimensional (3D)
33%
Nuclear factor-B
33%
Glucocorticoid Receptor
33%
Coactivator
33%
Helix
33%
Acne
33%
Low Affinity
33%
Androstenedione
33%
Responsive Genes
33%
Multiple Steps
33%
Alopecia
33%
Cushing's Syndrome
33%
Nuclear Translocation
33%
Serum Cortisol
33%
Irregular Menstrual Cycle
33%
Amino Acid Position
33%
Natural mutation
33%
Urinary Free Cortisol
33%
B Signaling Pathway
33%
Activation Function
33%
Molecular Modeling Studies
33%
Cortisol Excretion
33%
Tissue Susceptibility
33%
NR3C1 Gene
33%
Structural Shifts
33%
Biochemistry, Genetics and Molecular Biology
Receptor Gene
100%
Glucocorticoid Receptor
100%
Glucocorticoid
100%
Signal Transduction
60%
Wild Type
20%
Amino Acids
20%
Molecular Model
20%
Complement Factor B
20%
Target Tissue
20%
Menstrual Cycle
20%
Adrenocorticotropic Hormone
20%
Rigidity
20%
Androstenedione Blood Level
20%
Hydrocortisone Blood Level
20%
Nuclear Receptor Coactivator 2
20%
Blood Plasma
20%
Histidine
20%
Arginine
20%
Cortisol
20%
Pharmacology, Toxicology and Pharmaceutical Science
Syndrome
100%
Receptor
100%
Glucocorticoid Receptor
100%
Glucocorticoid
71%
Hydrocortisone
28%
Hirsutism
14%
Corticotropin
14%
Amino Acid
14%
Acne
14%
Arginine
14%
Androstenedione
14%
Histidine
14%
Alopecia
14%
Alternative Complement Pathway C3 C5 Convertase
14%
Nuclear Factor
14%
Cushing Syndrome
14%
Nuclear Receptor Coactivator 2
14%