Molecular basis of hypogonadotropic hypogonadism: Restoration of mutant (E90K) GnRH receptor function by a deletion at a distant site

Journal of Clinical Endocrinology and Metabolism

Volumn 87, Issue 5, 2002, Pages 2144-2149

  Maya Núñez, Guadalupe ^a,b,c,d,e   Janovick, Jo Ann ^a,b,c,d   Ulloa Aguirre, Alfredo ^a,b,c,d   Söderlund, Daniela ^a,b,c,d   Michael Conn, P ^a,b,c,d   Méndez, Juan Pablo ^a,b,c,d  

^a HOSPITAL DE PEDIATRÍA   (Mexico)

^b Hospital Luis Castelazo Ayala   (Mexico)

^c OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^d OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^e Unidad de Investigación Médica en Biología del Desarrollo   (Mexico)

Author keywords

[No Author keywords available]

Indexed keywords

AMIDE; BUSERELIN; CALCITONIN GENE RELATED PEPTIDE DERIVATIVE; FLUORIDE SODIUM; GONADORELIN; GONADORELIN AGONIST; GONADORELIN ANTAGONIST; GONADORELIN RECEPTOR; IODINE 125; ITURELIX; LEUPRORELIN; TRIPTORELIN;

ANIMAL CELL; ARTICLE; GENE DELETION; GENE MUTATION; GENE OVEREXPRESSION; HORMONE RECEPTOR INTERACTION; HYPOGONADISM; HYPOGONADOTROPIC HYPOGONADISM; NONHUMAN; PRIORITY JOURNAL; RECEPTOR BINDING;

ANIMALS; CELL MEMBRANE; CHIMERA; COS CELLS; GENE DELETION; HUMANS; HYPOGONADISM; MUTATION; RECEPTORS, LHRH; REFERENCE VALUES;

ANIMALIA; CATFISH; MAMMALIA;

EID: 0036090269     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.87.5.2144     Document Type: Article

References (32)

1. G protein-coupled receptors and the G protein family
2. Studies of gonadotropin-releasing hormone (GnRH) action using GnRH receptor-expressing pituitary cell lines
3. A deletion truncating the gonadotropin-releasing hormone gene is responsible for hypogonadism in the hpg mouse
4. Xp22.3 deletions in isolated familial Kallmann's syndrome
5. Definitive localization of X-linked Kallmann syndrome (hypogonadism and anosmia) to Xp22.3: Close linkage to the hypervariable repeat sequence CRI-S232
6. Brief report: Intragenic deletion of the KALIG-1 gene in Kallmann's syndrome
7. X chromosome-linked Kallmann syndrome: Stop mutations validate the candidate gene
8. Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency
9. A recurrent missense mutation in the KAL gene in patients with X-linked Kallmann's syndrome
10. An atypical contiguous gene syndrome: Molecular studies in a family with X-linked Kallmann's syndrome and X-linked ichthyosis
11. An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita
12. A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor
13. Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism
14. Resistance of hypogonadic patients with mutated GnRH receptor genes to pulsatile GnRH administration
15. Gonadotropin-releasing hormone receptor gene mutation: A new cause of hereditary hypogonadism and another mutated G-protein-coupled receptor
16. The same molecular defects of the gonadotropin-releasing hormone receptor determine a variable degree of hypogonadism in affected kindred
17. Complete hypogonadotropic hypogonadism associated with a novel inactivating mutation of the gonadotropin-releasing hormone receptor
18. Mutations of the GnRH receptor gene: A new cause of autosomal-recessive hypogonadotropic hypogonadism
19. A novel homozygous mutation in the second transmembrane domain of the gonadotropin-releasing hormone receptor gene
20. Gene splicing by overlap extension
21. Combined modification of intracellular and extracellular loci on human gonadotropin-releasing hormone receptor provides a mechanism for enhanced expression
22. The use of lithium ion in measurement of stimulated pituitary inositol phospholipid turnover
23. The calcium requirement in GnRH-stimulated LH release is not mediated through a specific action on receptor binding
24. A reciprocal mutation supports helix 2 and helix 7 proximity in the gonadotropin-releasing hormone receptor
25. Molecular mechanisms of ligand interaction with the gonadotropin-releasing hormone receptor
26. Rhodopsin-family receptors associate with small G proteins to activate phospholipase D
27. 318 mutations on signal transduction by the gonadotropin-releasing hormone receptor and receptor regulation
28. The functional microdomain in transmembrane helices 2 and 7 regulates expression, activation, and coupling pathways of the gonadotropin-releasing hormone receptor
29. An intramolecular disulfide bond between conserved extracellular cysteines in the gonadotropin-releasing hormone is essential for binding and activation
30. Dependence of agonist activation on an aromatic moiety in the DPLIY motif of the gonadotropin-releasing hormone receptor
31. Addition of catfish gonadotropin-releasing hormone (GnRH) receptor intracellular carboxyl-terminal tail to rat GnRH receptor alters receptor expression and regulation
32. Influence of a species-specific extracellular amino acid on expression and function of the human gonadotropin-releasing hormone receptor