(Q24594715)

7 November 2023

C Tsigos

1

C

Tsigos

1 reference

7 November 2023

K Arai

series ordinal

2

author given names

K

author last names

Arai

1 reference

7 November 2023

W Hung

series ordinal

3

author given names

W

author last names

Hung

1 reference

Journal of Clinical Investigation

7 November 2023

language of work or name

English

0 references

publication date

November 1993

0 references

published in

0 references

volume

92

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issue

5

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page(s)

2458-61

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cites work

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=288430

Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288430

Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288430

Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288430

The syndrome of congenital adrenocortical unresponsiveness to ACTH. Report of six cases

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288430

Isolated glucocorticoid deficiency: metabolic and endocrine studies in a 5-year-old boy.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288430

Identification of residues required for ligand binding to the beta-adrenergic receptor

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288430

A nonsense mutation causing decreased levels of insulin receptor mRNA: detection by a simplified technique for direct sequencing of genomic DNA amplified by the polymerase chain reaction

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288430

Structure/function relationship of proteins belonging to the family of receptors coupled to GTP-binding proteins

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288430

G-protein linked receptors: a family probed by molecular cloning and mutagenesis procedures

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288430

In vitro mutagenesis and the search for structure-function relationships among G protein-coupled receptors

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288430

Familial glucocorticoid deficiency. Studies of diagnosis and pathogenesis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288430

Absent Aldosterone Response to ACTH in Familial Glucocorticoid Deficiency

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288430

Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288430

Ovine corticotropin-releasing factor administration in normal men. Pituitary and adrenal responses in the morning and evening.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288430

Site-directed mutagenesis of m1 muscarinic acetylcholine receptors: conserved aspartic acids play important roles in receptor function

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=288430

Allgrove syndrome: an autosomal recessive syndrome of ACTH insensitivity, achalasia and alacrima

30 May 2018

1 reference

12 December 2020

Brief report: a mutation in the vasopressin V2-receptor gene in a kindred with X-linked nephrogenic diabetes insipidus

1 reference

12 December 2020

A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa

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

Hereditary adrenocortical unresponsiveness to adrenocorticotropic hormone

1 reference

12 December 2020

release_ffaep6ndnjcevdadps5ilp4nbq

Identifiers

DOI

10.1172/JCI116853

0 references

Fatcat ID

0 references

PMC publication ID

288430

0 references