A novel point mutation in helix 11 of the ligand-binding domain of the human glucocorticoid receptor gene causing generalized glucocorticoid resistance
about
Generalized glucocorticoid resistance: clinical aspects, molecular mechanisms, and implications of a rare genetic disorderChrousos syndrome: a seminal report, a phylogenetic enigma and the clinical implications of glucocorticoid signalling changesDesign principles of nuclear receptor signaling: how complex networking improves signal transduction.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 transreppressivThe human glucocorticoid receptor: molecular basis of biologic functionFamilial glucocorticoid resistance caused by a novel frameshift glucocorticoid receptor mutation.Primary generalized familial and sporadic glucocorticoid resistance (Chrousos syndrome) and hypersensitivityRecent advances in the molecular mechanisms determining tissue sensitivity to glucocorticoids: novel mutations, circadian rhythm and ligand-induced repression of the human glucocorticoid receptor.Stress response and child health.NALP3 inflammasome upregulation and CASP1 cleavage of the glucocorticoid receptor cause glucocorticoid resistance in leukemia cellsStructural Analysis on the Pathologic Mutant Glucocorticoid Receptor Ligand-Binding Domains.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.A novel point mutation in the amino terminal domain of the human glucocorticoid receptor (hGR) gene enhancing hGR-mediated gene expression.Glucocorticoid signaling in the cell. Expanding clinical implications to complex human behavioral and somatic disorders.Bifunctional ligands allow deliberate extrinsic reprogramming of the glucocorticoid receptor.The effect of dexamethasone on lentiviral vector infection is associated with importin αChrousos syndrome: from molecular pathogenesis to therapeutic management.Genetic variation in the glucocorticoid pathway involved in interindividual differences in the glucocorticoid treatment.Lack of mutations in the gene coding for the hGR (NR3C1) in a pediatric patient with ACTH-secreting pituitary adenoma, absence of stigmata of Cushing's syndrome and unusual histologic features.A novel mutation of the hGR gene causing Chrousos syndrome.Primary generalized glucocorticoid resistance and hypersensitivity: the end-organ involvement in the stress response.Functional characterization of the hGRαT556I causing Chrousos syndrome.An unexpected, mild phenotype of glucocorticoid resistance associated with glucocorticoid receptor gene mutation case report and review of the literature.
P2860
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P2860
A novel point mutation in helix 11 of the ligand-binding domain of the human glucocorticoid receptor gene causing generalized glucocorticoid resistance
description
2007 nî lūn-bûn
@nan
2007 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
A novel point mutation in heli ...... ized glucocorticoid resistance
@ast
A novel point mutation in heli ...... ized glucocorticoid resistance
@en
A novel point mutation in heli ...... ized glucocorticoid resistance
@en-gb
A novel point mutation in heli ...... ized glucocorticoid resistance
@nl
type
label
A novel point mutation in heli ...... ized glucocorticoid resistance
@ast
A novel point mutation in heli ...... ized glucocorticoid resistance
@en
A novel point mutation in heli ...... ized glucocorticoid resistance
@en-gb
A novel point mutation in heli ...... ized glucocorticoid resistance
@nl
prefLabel
A novel point mutation in heli ...... ized glucocorticoid resistance
@ast
A novel point mutation in heli ...... ized glucocorticoid resistance
@en
A novel point mutation in heli ...... ized glucocorticoid resistance
@en-gb
A novel point mutation in heli ...... ized glucocorticoid resistance
@nl
P2093
P921
P356
P1476
A novel point mutation in heli ...... ized glucocorticoid resistance
@en
P2093
George P Chrousos
Keith Zachman
Liliana Mejia
Takamasa Ichijo
Tomoshige Kino
William Jubiz
P304
P356
10.1210/JC.2006-2830
P407
P577
2007-07-17T00:00:00Z