(Q39931614)

English

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.

scientific article published on 7 October 2008

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18840636%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

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 (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18840636%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

3

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15 January 2020

5

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15 January 2020

7

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15 January 2020

Adrian J. L. Clark

8

object named as

A J L Clark

1 reference

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15 January 2020

author name string

T T Chung

1

1 reference

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15 January 2020

T R Webb

2

1 reference

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15 January 2020

S N Cooray

4

1 reference

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15 January 2020

P J King

6

1 reference

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15 January 2020

language of work or name

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publication date

7 October 2008

1 reference

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15 January 2020

The Journal of Clinical Endocrinology and Metabolism

1 reference

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15 January 2020

93

1 reference

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15 January 2020

12

1 reference

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15 January 2020

4948-4954

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18840636%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

Heterogeneity in the molecular basis of ACTH resistance syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2635546

22 September 2017

The melanocortin 2 receptor accessory protein exists as a homodimer and is essential for the function of the melanocortin 2 receptor in the mouse y1 cell line.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2635546

22 September 2017

The highly conserved DRY motif of class A G protein-coupled receptors: beyond the ground state.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2635546

22 September 2017

Compound heterozygosity of a frameshift mutation in the coding region and a single base substitution in the promoter of the ACTH receptor gene in a family with isolated glucocorticoid deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2635546

22 September 2017

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=2635546

22 September 2017

Expression of the human melanocortin-2 receptor in different eukaryotic cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2635546

22 September 2017

Mechanisms of cell death in rhodopsin retinitis pigmentosa: implications for therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2635546

22 September 2017

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=2635546

22 September 2017

Characterization of an adrenocorticotropin (ACTH) receptor promoter polymorphism leading to decreased adrenal responsiveness to ACTH.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2635546

22 September 2017

Pharmacological chaperones: potential treatment for conformational diseases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2635546

22 September 2017

Characterization of cell lines stably expressing human normal or mutated EGFP-tagged MC4R.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2635546

22 September 2017

Protein origami: therapeutic rescue of misfolded gene products

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2635546

22 September 2017

Therapeutic approaches to protein-misfolding diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2635546

22 September 2017

Quality control in the endoplasmic reticulum protein factory

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2635546

22 September 2017

Impaired desensitization of a mutant adrenocorticotropin receptor associated with apparent constitutive activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2635546

22 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=2635546

22 September 2017

Influence of molecular and chemical chaperones on protein folding

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2635546

22 September 2017

Effects of recombinant agouti-signaling protein on melanocortin action

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2635546

22 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=2635546

22 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=2635546

22 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2635546

22 September 2017

Sequence alignment of the G-protein coupled receptor superfamily

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2635546

22 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=2635546

25 September 2017

A common step for signal transduction in G protein-coupled receptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2635546

25 September 2017

The function of a highly-conserved arginine residue in activation of the muscarinic M1 receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2635546

25 September 2017

Characterization of the human ACTH receptor gene and in vitro expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2635546

15 June 2018

An arginine residue conserved in most G protein-coupled receptors is essential for the function of the m1 muscarinic receptor.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2635546

15 June 2018

Hereditary adrenocortical unresponsiveness to ACTH.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2635546

15 June 2018

Rescue of hypogonadotropic hypogonadism-causing and manufactured GnRH receptor mutants by a specific protein-folding template: misrouted proteins as a novel disease etiology and therapeutic target

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2635546

20 August 2018

Failed export of the adrenocorticotrophin receptor from the endoplasmic reticulum in non-adrenal cells: evidence in support of a requirement for a specific adrenal accessory factor

1 reference

https://pubmed.ncbi.nlm.nih.gov/18840636

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/18840636

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Modulation of GDP release from transducin by the conserved Glu134-Arg135 sequence in rhodopsin

1 reference

https://pubmed.ncbi.nlm.nih.gov/18840636

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Adrenocorticotropin insensitivity syndromes

1 reference

https://pubmed.ncbi.nlm.nih.gov/18840636

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18840636

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1210/JC.2008-1744

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18840636%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18840636%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18840636%20AND%20SRC:MED&resulttype=core&format=json

15 January 2020

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