(Q33861190)

29 July 2017

1 reference

title

Isolated glucocorticoid deficiency and ACTH receptor mutations (English)

1 reference

29 July 2017

Tsigos C

1

1 reference

29 July 2017

publication date

1 November 1999

1 reference

Archives of Medical Research

29 July 2017

published in

1 reference

29 July 2017

volume

30

1 reference

29 July 2017

issue

6

1 reference

29 July 2017

page(s)

475-480

1 reference

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

29 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0188-0128%2899%2900057-3

7 January 2021

Hereditary adrenocortical unresponsiveness to adrenocorticotropic hormone

1 reference

https://api.crossref.org/works/10.1016%2FS0188-0128%2899%2900057-3

7 January 2021

Familial glucocorticoid deficiency. Studies of diagnosis and pathogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0188-0128%2899%2900057-3

7 January 2021

Absent Aldosterone Response to ACTH in Familial Glucocorticoid Deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0188-0128%2899%2900057-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0188-0128%2899%2900057-3

7 January 2021

Agonist and receptor binding properties of adrenocorticotropin peptides using the cloned mouse adrenocorticotropin receptor expressed in a stably transfected HeLa cell line

1 reference

https://api.crossref.org/works/10.1016%2FS0188-0128%2899%2900057-3

7 January 2021

Mapping the human melanocortin 2 receptor (adrenocorticotropic hormone receptor; ACTHR) gene (MC2R) to the small arm of chromosome 18 (18p11.21-pter).

1 reference

https://api.crossref.org/works/10.1016%2FS0188-0128%2899%2900057-3

7 January 2021

Characterization of melanocortin receptor subtype expression in murine adipose tissues and in the 3T3-L1 cell line

1 reference

https://api.crossref.org/works/10.1016%2FS0188-0128%2899%2900057-3

7 January 2021

An ACTH receptor on human mononuclear leukocytes. Relation to adrenal ACTH-receptor activity

1 reference

https://api.crossref.org/works/10.1016%2FS0188-0128%2899%2900057-3

7 January 2021

Receptors for melanocortin peptides in the hypothalamic-pituitary-adrenal axis and skin.

1 reference

https://api.crossref.org/works/10.1016%2FS0188-0128%2899%2900057-3

7 January 2021

Characterization of the transcription start site of the ACTH receptor gene: presence of an intronic sequence in the 5'-flanking region

1 reference

https://api.crossref.org/works/10.1016%2FS0188-0128%2899%2900057-3

7 January 2021

Genomic structure and promoter characterization of the human ACTH receptor gene

1 reference

https://api.crossref.org/works/10.1016%2FS0188-0128%2899%2900057-3

7 January 2021

Regulation of corticotropin receptor number and messenger RNA in cultured human adrenocortical cells by corticotropin and angiotensin II.

1 reference

https://api.crossref.org/works/10.1016%2FS0188-0128%2899%2900057-3

7 January 2021

ACTH induces up-regulation of ACTH receptor mRNA in mouse and human adrenocortical cell lines

1 reference

https://api.crossref.org/works/10.1016%2FS0188-0128%2899%2900057-3

7 January 2021

Three Steroidogenic Factor-1 Binding Elements Are Required for Constitutive and cAMP- Regulated Expression of the Human Adrenocorticotropin Receptor Gene

1 reference

https://api.crossref.org/works/10.1016%2FS0188-0128%2899%2900057-3

7 January 2021

Effects of hypophysectomy and ACTH administration on the level of adrenal cholesterol side-chain desmolase.

1 reference

https://api.crossref.org/works/10.1016%2FS0188-0128%2899%2900057-3

7 January 2021

No evidence for oncogenic mutations in the adrenocorticotropin receptor gene in human adrenocortical neoplasms.

1 reference

https://api.crossref.org/works/10.1016%2FS0188-0128%2899%2900057-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0188-0128%2899%2900057-3

7 January 2021

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://api.crossref.org/works/10.1016%2FS0188-0128%2899%2900057-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0188-0128%2899%2900057-3

7 January 2021

Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor

1 reference

https://api.crossref.org/works/10.1016%2FS0188-0128%2899%2900057-3

7 January 2021

Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function.

1 reference

https://api.crossref.org/works/10.1016%2FS0188-0128%2899%2900057-3

7 January 2021

Genetic heterogeneity of adrenocorticotropin (ACTH) resistance syndromes: identification of a novel mutation of the ACTH receptor gene in hereditary glucocorticoid deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0188-0128%2899%2900057-3

7 January 2021

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/10.1016%2FS0188-0128%2899%2900057-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0188-0128%2899%2900057-3

7 January 2021

Selective ACTH Insensitivity, Achalasia, and Alacrima: a Multisystem Disorder Presenting in Childhood

1 reference

https://api.crossref.org/works/10.1016%2FS0188-0128%2899%2900057-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0188-0128%2899%2900057-3

7 January 2021

Neurological and adrenal dysfunction in the adrenal insufficiency/alacrima/achalasia (3A) syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0188-0128%2899%2900057-3

7 January 2021

Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster

1 reference

https://api.crossref.org/works/10.1016%2FS0188-0128%2899%2900057-3

7 January 2021

10.1016/S0188-0128(99)00057-3

Identifiers

DOI

1 reference

29 July 2017

1 reference