(Q37364587)

19 August 2017

0 references

Familial glucocorticoid deficiency with a point mutation in the ACTH receptor: a case report (English)

1 reference

19 August 2017

Chan Jong Kim

1

1 reference

19 August 2017

Young Jong Woo

series ordinal

2

1 reference

19 August 2017

Gu Hwan Kim

series ordinal

3

1 reference

19 August 2017

Han Wook Yoo

series ordinal

4

1 reference

19 August 2017

23 September 2009

1 reference

Journal of Korean Medical Science

19 August 2017

1 reference

19 August 2017

24

1 reference

19 August 2017

5

1 reference

19 August 2017

979-981

1 reference

Creative Commons Attribution-NonCommercial 3.0 Unported

19 August 2017

start time

1 January 2009

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Inherited ACTH insensitivity illuminates the mechanisms of ACTH action

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752790

Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752790

Clinical, genetic, and functional characterization of adrenocorticotropin receptor mutations using a novel receptor assay

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752790

Demonstration by transfection studies that mutations in the adrenocorticotropin receptor gene are one cause of the hereditary syndrome of glucocorticoid deficiency

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752790

Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752790

The cloning of a family of genes that encode the melanocortin receptors

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752790

Functional characterization of naturally occurring mutations of the human adrenocorticotropin receptor: poor correlation of phenotype and genotype

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2752790

Hereditary adrenocortical unresponsiveness to adrenocorticotropic hormone

28 September 2017

1 reference

12 December 2020

Neonatal hepatitis and congenital insensitivity to adrenocorticotropin (ACTH)

1 reference

12 December 2020

Adrenocorticotropin insensitivity syndromes

1 reference

12 December 2020

Familial Addison's disease; case reports of two sisters with corticoid deficiency unassociated with hypoaldosteronism

1 reference

12 December 2020

10.3346/JKMS.2009.24.5.979

Identifiers

DOI

1 reference

19 August 2017

1 reference

19 August 2017

PubMed publication ID

19795005

1 reference