A homozygous microdeletion in helix 7 of the luteinizing hormone receptor associated with familial testicular and ovarian resistance is due to both decreased cell surface expression and impaired effector activation by the cell surface receptor

Molecular Endocrinology

Volumn 12, Issue 3, 1998, Pages 442-450

  Latronico, A C ^a   Chai, Y ^a   Arnhold, I J P ^a   Liu, X ^a   Mendonca, B B ^a   Segaloff, D L ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

CELL SURFACE RECEPTOR; COMPLEMENTARY DNA; CYCLIC AMP; LUTEINIZING HORMONE RECEPTOR;

AMENORRHEA; ARTICLE; CASE REPORT; FAMILIAL DISEASE; FEMALE; GENE MUTATION; HUMAN; INFERTILITY; MALE; OVARY; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PSEUDOHERMAPHRODITISM; TESTIS;

EID: 0032230361     PISSN: 08888809     EISSN: None     Source Type: Journal    
DOI: 10.1210/mend.12.3.0077     Document Type: Article

References (37)

1. Structure and regulation of the LH/CG receptor
2. The lutropin/choriogonadotropin (LH/CG) receptor-4 years later
3. Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene
4. Compound heterozygous mutations of the luteinizing hormone receptor gene in Leydig cell hypoplasia
5. Testicular and ovarian resistance to luteinizing hormone caused by homozygous inactivating mutations of the luteinizing hormone receptor gene
6. A nonsense mutation of the human luteinizing hormone receptor gene in Leydig cell hypoplasia
7. Comparison of immunocytochemical and molecular features with the phenotype in a case of incomplete male pseudohermaphroditism associated with a mutation of the luteinizing hormone receptor
8. A novel mutation of LH receptor presents as primary amenorrhea in (XX and XY) sisters
9. An inactivating mutation of the luteinizing hormone receptor causes amenorrhea in a 46,XX female
10. Mutational analyses of the extracellular domain of the full-length lutropin/choriogonadotropin receptor suggest leucine-rich repaets 1-6 are involved in hormone binding
11. Positive charges in a putative amphiphilic helix in the carboxyl-terminal region of the third intracellular loop of the luteinizing hormone/chorionic gonadotropin receptor are not required for hormone-stimulated cAMP production but are necessary for expression of the receptor at the plasma membrane
12. Mutation of a highly conserved acidic residue present in the second intracellular loop of G-protein-coupled receptors does not impair hormone binding or signal transduction of the luteinizing hormone/chorionic gonadotropin receptor
13. The lutropin/choriogonadotropin receptor is palmitoylated at intracellular cysteine residues
14. Deletions of portions of the extracellular loops of the lutropin/choriogonadotropin receptor decrease the binding affinity for oLH, but not hCG, by preventing the formation of mature cell surface receptor
15. Intracellular retention of mutant gonadotropin receptors results in loss of hormone binding activity of the follitropin receptor but not the lutropin/choriogonadotropin receptor
16. Temperature sensitivity of some mutants of the lutropin/choriogonadotropin receptor
17. The LDL receptor locus in familial hypercholesterolemia: Mutational analysis of a membrane protein
18. Defective intracellular transport and processing of CFTR is the molecular basis for most cystic fibrosis
19. Abnormal localization of cystic fibrosis transmembrane conductance regulator in primary cultures of cystic fibrosis airway epithelia
20. Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive
21. Two mutations in a conserved structural motif in the insulin receptor inhibit normal folding and intracellular transport of the receptor
22. Identification of intramolecular interactions in adrenergic receptors
23. Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa
24. An X-linked NDI mutation reveals a requirement for cell surface V2R expression
25. Evidence for the direct involvement of transmembrane region six of the lutropin/choriogonadotropin receptor in activating Gs
26. Transmembrane regions V and VI of the human luteinizing hormone receptor are required for constitutive activation by a mutation in the third intracellular loop
27. 2-adrenergic receptor to Gi and Gs
28. 2-adrenergic receptor that is autoregulated via protein kinase A-dependent phosphorylation
29. 2-adrenergic receptor that is autoregulated via protein kinase A-dependent phosphorylation
30. Ovarian resistance to luteinizing hormone: A novel cause of amenorrhea and infertility
31. Response to challenge with gonadotropin-releasing hormone agonist in a mother and her two sons with a constitutively activating mutation of the luteinizing hormone receptor - A clinical research center study
32. Site-directed mutagenesis by overlap extension using the polymerase chain reaction
33. High-efficiency transformation of mammalian cells by plasmid DNA
34. Simultaneous analysis of families of sigmoidal curves: Application to bioassay, radioligand assay and physiological dose-response curves
35. LIGAND: A versatile computerized approach for characterization of ligand-binding systems
36. Identification of the sites of N-linked glycosylation on the follicle-stimulating hormone (FSH) receptor and assessment of their role in FSH receptor function
37. A simple and rapid method using polyethylenemine-treated filters for assay of solubilized LH/hCG receptors