A mutation of the glucocorticoid receptor in primary cortisol resistance (Q33898212)

29 July 2017

A mutation of the glucocorticoid receptor in primary cortisol resistance (English)

1 reference

29 July 2017

0 references

D M Malchoff

1

1 reference

29 July 2017

A Brufsky

2

1 reference

29 July 2017

G Reardon

3

1 reference

29 July 2017

P McDermott

4

1 reference

29 July 2017

E C Javier

5

1 reference

29 July 2017

C H Bergh

6

1 reference

29 July 2017

D Rowe

7

1 reference

29 July 2017

C D Malchoff

8

1 reference

29 July 2017

language of work or name

English

0 references

publication date

1 May 1993

1 reference

Journal of Clinical Investigation

29 July 2017

1 reference

29 July 2017

91

1 reference

29 July 2017

5

1 reference

29 July 2017

1918-1925

1 reference

Primary cortisol resistance in man. A glucocorticoid receptor-mediated disease

29 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288186

Relationship between the inhibition constant (K1) and the concentration of inhibitor which causes 50 per cent inhibition (I50) of an enzymatic reaction

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288186

Isolation of high-molecular-weight DNA from mammalian cells

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288186

Decreased glucocorticoid receptors in cultured skin fibroblasts from a patient with primary cortisol 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=288186

Familial cortisol resistance: differential diagnostic and therapeutic aspects.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288186

The mouse glucocorticoid receptor: mapping of functional domains by cloning, sequencing and expression of wild-type and mutant receptor proteins

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288186

Primary cortisol resistance associated with a thermolabile glucocorticoid receptor in a patient with fatigue as the only symptom

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288186

Genetic complementation of a glucocorticoid receptor deficiency by expression of cloned receptor cDNA.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288186

Functional domains of the human glucocorticoid receptor

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288186

Decreased deoxyribonucleic acid binding of glucocorticoid-receptor complex in cultured skin fibroblasts from a patient with the glucocorticoid resistance syndrome.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288186

Domain structure of the glucocorticoid receptor protein

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288186

The steroid and thyroid hormone receptor superfamily

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288186

Primary structure and expression of a functional human glucocorticoid receptor cDNA

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288186

A movable and regulable inactivation function within the steroid binding domain of the glucocorticoid receptor

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288186

Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288186

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288186

Functional dissection of the hormone and DNA binding activities of the glucocorticoid receptor.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288186

Characterization and colocalization of steroid binding and dimerization activities in the mouse estrogen receptor

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288186

A base mutation of the C-erbA beta thyroid hormone receptor in a kindred with generalized thyroid hormone resistance. Molecular heterogeneity in two other kindreds

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288186

The genomic structure of the human glucocorticoid receptor

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288186

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=288186

Cortisol receptor resistance: the variability of its clinical presentation and response to treatment

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288186

Spontaneous Hypercortisolism without Cushing's Syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288186

Primary cortisol resistance presenting as isosexual precocity

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288186

Effect of molybdate on activation and stabilization of steroid receptors

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7683692

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Primary cortisol resistance: a family study

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7683692

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Primary cortisol resistance accompanied by a reduction in glucocorticoid receptors in two members of the same family

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7683692

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1172/JCI116410

1 reference

29 July 2017

1 reference

29 July 2017

1 reference