Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene (Q24594715)

7 November 2023

C Tsigos

Tsigos

1 reference

7 November 2023

K Arai

series ordinal

author given names

author last names

Arai

1 reference

7 November 2023

W Hung

series ordinal

author given names

author last names

Hung

1 reference

Journal of Clinical Investigation

7 November 2023

language of work or name

English

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publication date

November 1993

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published in

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volume

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issue

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page(s)

2458-61

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cites work

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

24 March 2017

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Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor

24 March 2017

1 reference

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Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus

24 March 2017

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

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

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

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1 reference

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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

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

27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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Absent Aldosterone Response to ACTH in Familial Glucocorticoid Deficiency

27 September 2017

1 reference

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

27 September 2017

1 reference

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

27 September 2017

1 reference

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

30 May 2018

1 reference

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

30 May 2018

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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

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Fatcat ID

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PMC publication ID

288430

0 references