(Q33948056)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20861124%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

title

Familial glucocorticoid resistance caused by a novel frameshift glucocorticoid receptor mutation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20861124%20AND%20SRC:MED&resulttype=core&format=json

glucocorticoid resistance

14 February 2020

main subject

1 reference

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20861124%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

John Blaikley

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20861124%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

David W. Ray

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20861124%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

author name string

P Trebble

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20861124%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

L Matthews

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20861124%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

A W O Wayte

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20861124%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

A Wilton

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20861124%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

language of work or name

English

0 references

publication date

22 September 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20861124%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Clinical Endocrinology and Metabolism

14 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20861124%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

volume

95

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20861124%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20861124%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

page(s)

E490-9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20861124%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

14 February 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4110505/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

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The mammalian nonsense-mediated mRNA decay pathway: to decay or not to decay! Which players make the decision?

5 July 2018

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A novel point mutation in the amino terminal domain of the human glucocorticoid receptor (hGR) gene enhancing hGR-mediated gene expression.

5 July 2018

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Thiazolidinediones are partial agonists for the glucocorticoid receptor

5 July 2018

1 reference

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MNAR functionally interacts with both NH2- and COOH-terminal GR domains to modulate transactivation

5 July 2018

1 reference

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Generalized glucocorticoid resistance: clinical aspects, molecular mechanisms, and implications of a rare genetic disorder

5 July 2018

1 reference

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Caveolin mediates rapid glucocorticoid effects and couples glucocorticoid action to the antiproliferative program

5 July 2018

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A novel point mutation in helix 11 of the ligand-binding domain of the human glucocorticoid receptor gene causing generalized glucocorticoid resistance

5 July 2018

1 reference

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Glucocorticoid receptor overexpression exerts an antisurvival effect on human small cell lung cancer cells.

5 July 2018

1 reference

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Human glucocorticoid receptor beta binds RU-486 and is transcriptionally active.

5 July 2018

1 reference

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Glucocorticoid resistance syndrome: A diagnostic and therapeutic approach

5 July 2018

1 reference

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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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4110505

Expression of glucocorticoid receptors alpha and beta in steroid sensitive and steroid insensitive interstitial lung diseases.

5 July 2018

1 reference

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The origin and functions of multiple human glucocorticoid receptor isoforms

5 July 2018

1 reference

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Natural glucocorticoid receptor mutants causing generalized glucocorticoid resistance: molecular genotype, genetic transmission, and clinical phenotype.

5 July 2018

1 reference

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Molecular origins for the dominant negative function of human glucocorticoid receptor beta

5 July 2018

1 reference

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Female pseudohermaphroditism caused by a novel homozygous missense mutation of the GR gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4110505

Pathologic human GR mutant has a transdominant negative effect on the wild-type GR by inhibiting its translocation into the nucleus: importance of the ligand-binding domain for intracellular GR trafficking

5 July 2018

1 reference

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Evidence that the peptidylprolyl isomerase domain of the hsp90-binding immunophilin FKBP52 is involved in both dynein interaction and glucocorticoid receptor movement to the nucleus

5 July 2018

1 reference

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Cytoplasmic catalytic subunit of protein kinase A mediates cross-repression by NF-kappa B and the glucocorticoid receptor.

5 July 2018

1 reference

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A model for the cytoplasmic trafficking of signalling proteins involving the hsp90-binding immunophilins and p50cdc37.

5 July 2018

1 reference

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Interaction of glucocorticoid receptor isoforms with transcription factors AP-1 and NF-kappaB: lack of effect of glucocorticoid receptor beta.

5 July 2018

1 reference

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The hsp90-based chaperone system: involvement in signal transduction from a variety of hormone and growth factor receptors

5 July 2018

1 reference

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Steroid receptor interactions with heat shock protein and immunophilin chaperones

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4110505

Cushing's disease preceded by generalized glucocorticoid resistance: clinical consequences of a novel, dominant-negative glucocorticoid receptor mutation.

5 July 2018

1 reference

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Glucocorticoid receptor beta, a potential endogenous inhibitor of glucocorticoid action in humans

5 July 2018

1 reference

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A mutation of the glucocorticoid receptor in primary cortisol resistance

5 July 2018

1 reference

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Point mutation causing a single amino acid substitution in the hormone binding domain of the glucocorticoid receptor in familial glucocorticoid resistance

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4110505

Modulation of glucocorticoid receptor function by protein kinase A.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4110505

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).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4110505

A novel, C-terminal dominant negative mutation of the GR causes familial glucocorticoid resistance through abnormal interactions with p160 steroid receptor coactivators

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4110505

Characterization of two novel mutations in the glucocorticoid receptor gene in patients with primary cortisol resistance

29 October 2018

1 reference

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Expression in hematological malignancies of a glucocorticoid receptor splice variant that augments glucocorticoid receptor-mediated effects in transfected cells.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4110505

Increased glucocorticoid receptor beta in airway cells of glucocorticoid-insensitive asthma.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4110505

Absence of glucocorticoid receptor-beta in mice

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4110505

Familial glucocorticoid resistance caused by a splice site deletion in the human glucocorticoid receptor gene.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4110505

Increased glucocorticoid receptor Beta expression converts mouse hybridoma cells to a corticosteroid-insensitive phenotype

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20861124

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Functional Characterization of the Natural Human Glucocorticoid Receptor (hGR) Mutants hGRαR477H and hGRαG679S Associated with Generalized Glucocorticoid Resistance

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20861124

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1210/JC.2010-0705

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20861124%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20861124%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

PubMed publication ID

20861124

1 reference