Mutations of the ACTH receptor gene in a new family with isolated glucocorticoid deficiency

Molecular Genetics and Metabolism

Volumn 71, Issue 4, 2000, Pages 646-650

  Tsigos, C ^a   Tsiotra, P ^a   Garibaldi, L R ^c   Stavridis, J C ^b   Chrousos, G P ^d   Raptis, S A ^a,b  

^a Hellenic National Diabetes Center   (Greece)

^b UNIVERSITY OF ATHENS   (Greece)

^c Cardinal Glennon Hospital   (United States)

^d NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

ACTH receptor; ACTH resistance; Adrenal insufficiency; G protein coupled receptors; Glucocorticoid deficiency

Indexed keywords

CORTICOTROPIN RECEPTOR; GLUCOCORTICOID;

ADRENAL INSUFFICIENCY; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CONTROLLED STUDY; DNA DETERMINATION; FEMALE; GENE AMPLIFICATION; GENE DISRUPTION; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; HUMAN CELL; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; RECEPTOR GENE; STOP CODON;

EID: 0034519435     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2000.3090     Document Type: Article

References (20)

1. ACTH resistance syndromes
2. Isolated glucocorticoid deficiency and ACTH receptor mutations
3. Familial Addison's disease. Case report of two sisters with corticoid deficiency unassociated with hypoaldosteronism
4. The syndrome of congenital unresponsiveness to ACTH. Report of six cases
5. Hereditary adrenocortical unresponsiveness to adrenocorticotropin hormone
6. Familial glucocorticoid deficiency. Studies of diagnosis and pathogenesis
7. Absent aldosterone response to ACTH in familial glucocorticoid deficiency
8. The cloning of a family of genes that encode the melanocortin receptors
9. Hereditary isoalated glucocorticoid deficiency associated with abnormalities of the adrenocorticotropin receptor gene
10. 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
11. Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor
12. Adrenocorticotropin receptor gene mutations in familial glucocorticoid deficiency: Relationships with clinical features in four families
13. Demonstration by tranfection studies that mutations in the adrenocorticotropin receptor gene are one cause of the hereditary syndrome of glucocorticoid deficiency
14. Genetic heterogeneity of adrenocorticotropin (ACTH) resistance syndromes: Identification of a novel mutation of the ACTH receptor gene
15. Severe ACTH insensitivity results from a novel compound heterozygote mutation of the ACTH receptor
16. Novel mutations of the ACTH receptor gene are responsible of the syndrome isolated familial glucocorticoid deficiency (FGD) in three independent families
17. A novel mutation of the ACTH receptor gene in an adult female patient with adrenal unresponsiveness to ACTH
18. Taylor St. A nonsense mutation causing decreased levels of insulin receptor mRNA: Detection by a simplified technique for direct sequencing of genomic DNA amplified by polymerase chain reaction
19. Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus
20. Principles and patterns of protein conformation