Neonatal complete generalized glucocorticoid resistance and growth hormone deficiency caused by a novel homozygous mutation in Helix 12 of the ligand binding domain of the glucocorticoid receptor gene (NR3C1).
about
The molecular biology, biochemistry, and physiology of human steroidogenesis and its disordersCongenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guidelineChrousos syndrome: a seminal report, a phylogenetic enigma and the clinical implications of glucocorticoid signalling changesFamilial glucocorticoid receptor haploinsufficiency by non-sense mediated mRNA decay, adrenal hyperplasia and apparent mineralocorticoid excess.Familial glucocorticoid resistance caused by a novel frameshift glucocorticoid receptor mutation.Interactions between glucocorticoid treatment and cis-regulatory polymorphisms contribute to cellular response phenotypes.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.Relationship of glucocorticoid receptor expression in peripheral blood mononuclear cells and the cochlea of guinea pigs and effects of dexamethasone administration.Glucocorticoids and the regulation of growth hormone secretion.Chrousos syndrome: from molecular pathogenesis to therapeutic management.Genomic analyses identify agents regulating somatotroph and lactotroph functions.Potential role of increased oxygenation in altering perinatal adrenal steroidogenesis.Genetic variation in the glucocorticoid pathway involved in interindividual differences in the glucocorticoid treatment.Use of recombinant cell-permeable small peptides to modulate glucocorticoid sensitivity of acute lymphoblastic leukemia cellsA novel mutation of the hGR gene causing Chrousos syndrome.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
Neonatal complete generalized glucocorticoid resistance and growth hormone deficiency caused by a novel homozygous mutation in Helix 12 of the ligand binding domain of the glucocorticoid receptor gene (NR3C1).
description
2009 nî lūn-bûn
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2009年の論文
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2009年学术文章
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2009年学术文章
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2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
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2009年学术文章
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2009年學術文章
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name
Neonatal complete generalized ...... rticoid receptor gene (NR3C1).
@en
Neonatal complete generalized ...... e glucocorticoid receptor gene
@nl
type
label
Neonatal complete generalized ...... rticoid receptor gene (NR3C1).
@en
Neonatal complete generalized ...... e glucocorticoid receptor gene
@nl
prefLabel
Neonatal complete generalized ...... rticoid receptor gene (NR3C1).
@en
Neonatal complete generalized ...... e glucocorticoid receptor gene
@nl
P2093
P50
P356
P1476
Neonatal complete generalized ...... orticoid receptor gene (NR3C1)
@en
P2093
Jennifer A Batch
Michael A Pearen
Nathaniel J Salmon
P304
P356
10.1210/JC.2009-1003
P407
P577
2009-11-20T00:00:00Z