(Q35768783)

English

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

scientific article published on February 2007

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17223989%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

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

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17223989%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17223989%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

John C. Achermann

9

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17223989%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

Mehul T Dattani

8

object named as

Mehul T Dattani

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17223989%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

Adrian J. L. Clark

7

object named as

Adrian J L Clark

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Europe PubMed Central

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24 December 2019

author name string

Lin Lin

1

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24 December 2019

Peter C Hindmarsh

2

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17223989%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

Mahmoud Alzyoud

4

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17223989%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

Maryam Al-Ali

5

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17223989%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

Caroline E Brain

6

1 reference

Europe PubMed Central

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24 December 2019

language of work or name

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publication date

1 February 2007

1 reference

Europe PubMed Central

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24 December 2019

Clinical Endocrinology

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17223989%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

66

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17223989%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17223989%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

205-210

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17223989%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

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=1859977

12 July 2018

Molecular basis of adrenal insufficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1859977

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1859977

12 July 2018

The regulation of aldosterone synthase expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1859977

12 July 2018

Inherited adrenal hypoplasia: not just for kids!

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1859977

12 July 2018

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=1859977

12 July 2018

Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1859977

12 July 2018

Novel mutations of the ACTH receptor gene in a female adult patient with adrenal unresponsiveness to ACTH

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1859977

12 July 2018

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=1859977

12 July 2018

Angiotensin II and potassium regulate human CYP11B2 transcription through common cis-elements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1859977

12 July 2018

Localization of ACTH receptor mRNA by in situ hybridization in mouse adrenal gland

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1859977

12 July 2018

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=1859977

12 July 2018

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=1859977

12 July 2018

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=1859977

12 July 2018

Plasma levels of aldosterone, corticosterone, 11-deoxycorticosterone, progesterone, 17-hydroxyprogesterone, cortisol, and cortisone during infancy and childhood

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1859977

12 July 2018

Measurement of renin activity, concentration and substrate in rat plasma by radioimmunoassay of angiotensin I.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1859977

12 July 2018

Measurement of plasma renin activity by semi-micro radioimmunoassay of generated angiotensin I

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1859977

12 July 2018

Absent Aldosterone Response to ACTH in Familial Glucocorticoid Deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1859977

12 July 2018

Localization and expression of adrenocorticotropic hormone receptor mRNA in normal and neoplastic human adrenal cortex

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2006.02709.X

21 January 2018

ACTH receptor mutation in a girl with familial glucocorticoid deficiency

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2006.02709.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2265.2006.02709.X

21 January 2018

Plasma Aldosterone Concentration in Normal Subjects from Infancy to Adulthood

1 reference

https://pubmed.ncbi.nlm.nih.gov/17223989

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular insights into inherited ACTH resistance syndromes

1 reference

https://pubmed.ncbi.nlm.nih.gov/17223989

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glomerulosa failure in congenital adrenocortical unresponsiveness to ACTH

1 reference

https://pubmed.ncbi.nlm.nih.gov/17223989

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adrenocorticotropin insensitivity syndromes

1 reference

https://pubmed.ncbi.nlm.nih.gov/17223989

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tall stature in familial glucocorticoid deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/17223989

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Stimulatory effect of adrenocorticotropin on cortisol, aldosterone, and dehydroepiandrosterone secretion in normal humans: dose-response study

1 reference

https://pubmed.ncbi.nlm.nih.gov/17223989

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The natural history of salt-wasting disorders of adrenal and renal origin

1 reference

https://pubmed.ncbi.nlm.nih.gov/17223989

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita

1 reference

https://pubmed.ncbi.nlm.nih.gov/17223989

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adrenocorticotropin receptor gene mutations in familial glucocorticoid deficiency: relationships with clinical features in four families

1 reference

https://pubmed.ncbi.nlm.nih.gov/17223989

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1111/J.1365-2265.2006.02709.X

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17223989%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17223989%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17223989%20AND%20SRC:MED&resulttype=core&format=json

24 December 2019

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