(Q37310420)

English

Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiency

scientific article published on August 2009

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scholarly article

1 reference

Europe PubMed Central

19 August 2017

Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiency (English)

1 reference

Europe PubMed Central

19 August 2017

1 reference

based on heuristic

inferred from title

Martin O. Savage

8

object named as

Martin O Savage

1 reference

Europe PubMed Central

19 August 2017

Adrian J. L. Clark

10

object named as

Adrian J L Clark

1 reference

Europe PubMed Central

19 August 2017

2

object named as

Louise A Metherell

1 reference

Europe PubMed Central

19 August 2017

author name string

Li F Chan

1

1 reference

Europe PubMed Central

19 August 2017

Heiko Krude

3

1 reference

Europe PubMed Central

19 August 2017

Colin Ball

4

1 reference

Europe PubMed Central

19 August 2017

Stephen M P O'Riordan

5

1 reference

Europe PubMed Central

19 August 2017

Colm Costigan

6

1 reference

Europe PubMed Central

19 August 2017

Sally A Lynch

7

1 reference

Europe PubMed Central

19 August 2017

Paolo Cavarzere

9

1 reference

Europe PubMed Central

19 August 2017

publication date

1 August 2009

1 reference

Europe PubMed Central

19 August 2017

Clinical Endocrinology

1 reference

Europe PubMed Central

19 August 2017

71

1 reference

Europe PubMed Central

19 August 2017

2

1 reference

Europe PubMed Central

19 August 2017

171-175

1 reference

Europe PubMed Central

19 August 2017

Pomc knockout mice have secondary hyperaldosteronism despite an absence of adrenocorticotropin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2728896

6 September 2017

Melanocortin 2 receptor is required for adrenal gland development, steroidogenesis, and neonatal gluconeogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2728896

6 September 2017

Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2728896

6 September 2017

The genetics of ACTH resistance syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2728896

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2728896

6 September 2017

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2728896

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2728896

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2728896

6 September 2017

Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2728896

6 September 2017

A novel mutation of the adrenocorticotropin receptor (ACTH-R) gene in a family with the syndrome of isolated glucocorticoid deficiency, but no ACTH-R abnormalities in two families with the triple A syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2728896

6 September 2017

The majority of adrenocorticotropin receptor (melanocortin 2 receptor) mutations found in familial glucocorticoid deficiency type 1 lead to defective trafficking of the receptor to the cell surface.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2728896

14 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2728896

28 September 2017

Characterization of mice deficient in melanocortin 2 receptor on a B6/Balbc mix background

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2728896

2 September 2018

Glomerulosa failure in congenital adrenocortical unresponsiveness to ACTH

1 reference

https://pubmed.ncbi.nlm.nih.gov/19170705

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adrenocorticotropin insensitivity syndromes

1 reference

https://pubmed.ncbi.nlm.nih.gov/19170705

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1111/J.1365-2265.2008.03511.X

1 reference

Europe PubMed Central

19 August 2017

1 reference

Europe PubMed Central

19 August 2017

1 reference

Europe PubMed Central

19 August 2017

ResearchGate publication ID

0 references

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