Gonadotropin-independent precocious puberty due to luteinizing hormone receptor mutations in Brazilian boys: A novel constitutively activating mutation in the first transmembrane helix

Journal of Clinical Endocrinology and Metabolism

Volumn 85, Issue 12, 2000, Pages 4799-4805

  Latronico, Ana Claudia ^a   Shinozaki, Hiromitsu ^b   Guerra Jr , Gil ^c   Pereira, Maria Adelaide A ^a   Lemos Marini, Sofia Helena V ^c   Baptista, Maria Tereza M ^c   Arnhold, Ivo Jorge P ^a   Fanelli, Francesca ^d   Mendonca, Berenice B ^a   Segaloff, Deborah L ^b  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b UNIVERSITY OF IOWA   (United States)

^c UNIVERSITY OF CAMPINAS   (Brazil)

^d UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CHORIONIC GONADOTROPIN; CYCLIC AMP; GONADOTROPIN; GUANINE NUCLEOTIDE BINDING PROTEIN; LEUCINE; LUTEINIZING HORMONE RECEPTOR; PROLINE;

ALLELE; ARTICLE; BRAZIL; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN CELL; MALE; PHENOTYPE; PRECOCIOUS PUBERTY; PRIORITY JOURNAL; RECEPTOR GENE;

EID: 17744371630     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.85.12.4799     Document Type: Article

References (26)

1. Naturally occurring mutations of the luteinizing-hormone receptor: Lessons learned about reproductive physiology and G protein-coupled receptors
2. Genetic heterogeneity of constitutively activating mutations of the human luteinizing hormone receptor in familial male-limited precocious puberty
3. A limited repertoire of mutations of the luteinizing hormone (LH) receptor gene in familial and sporadic patients with male LH-independent precocious puberty
4. Effects of three distinct activating mutations of the luteinizing hormone receptor gene on the pituitary gonadal axis in both sexes
5. A novel mutation of the luteinzing hormone receptor gene causing male gonadotropin-independent precocious puberty
6. A unique constitutively activating mutation in the third transmembrane helix of the luteinizmg hormone receptor causes sporadic male gonadotropin independent precocious puberty
7. Site-directed mutagenesis by overlap extension using the polymerase chain reaction
8. Engineering hybrid genes without the use of restriction enzymes: Gene splicing by overlap extension
9. High-efficiency transformation of mammalian cells by plasmid DNA
10. Simultaneous analysis of families of sigmoidal curves: Application to bioassay, radioligand assay and physiological dose-response curves
11. Theoretical study on mutation-induced activation of the luteinizing hormone receptor
12. A constitutively activating mutation of the luteinizing hormone receptor in familial male precocious puberty
13. A missense mutation in the second transmembrane segment of the luteinizing hormone receptor causes familiar male precocious puberty
14. A mutation in the first transmembrane domain of the lutropin receptor causes male precocious puberty
15. Characterization of heterogeneous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty
16. Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty
17. A sporadic case of male-limited precocious puberty has the same consitutively activating point mutation in luteinizing hormone/choriogonadotropin receptor gene as familial cases
18. A case of male-limited precocious puberty caused by a point mutation in the second transmembrane domain of the luteinizing hormone choriogonadotropin receptor gene
19. A new point mutation in the luteinising hormone receptor gene in familial and sporadic male limited precocious puberty: Genotype does not always correlate with phenotype
20. Identification of constitutively activating mutation of the luteinising hormone receptor in a family with male limited gonadotrophin independent precocious puberty (testotoxicosis)
21. 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
22. Cloning and sequencing of human LH/hCG receptor cDNA
23. The thyrotropin receptor in thyroid diseases
24. A homozygous mutation of the luteinizing hormone receptor causes partial Leydig cell hypoplasia: Correlation between receptor activity and phenotype
25. A model of the lutropin/choriogonadotropin receptor: Insights into the structure and functional aspects of constitutively activating mutations
26. Uncovering molecular mechanisms involved in activation of G protein- coupled receptors