Clinical significance of heterozygous carriers associated with compensated hypothyroidism in R450H, a common inactivating mutation of the thyrotropin receptor gene in Japanese

Endocrine

Volumn 30, Issue 3, 2006, Pages 383-388

  Kanda, Keisuke ^a   Mizuno, Haruo ^a   Sugiyama, Yukari ^a   Imamine, Hiroki ^a   Togari, Hajime ^a   Onigata, Kazumichi ^b  

^a NAGOYA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCES   (Japan)

^b GUNMA UNIVERSITY   (Japan)

Author keywords

Congenital hypothyroidism; Heterozygous; Inactivating mutation; Thyrotropin receptor gene; TSH resistance

Indexed keywords

THYROTROPIN RECEPTOR;

ARTICLE; BIOCHEMISTRY; CLINICAL ARTICLE; CORRELATION ANALYSIS; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HETEROZYGOTE; HOMOZYGOSITY; HORMONE DETERMINATION; HUMAN; HYPOTHYROIDISM; INFANT; MALE; NEWBORN; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN FUNCTION; SEQUENCE ANALYSIS;

EID: 34347324079     PISSN: 1355008X     EISSN: 15590100     Source Type: Journal    
DOI: 10.1007/s12020-006-0018-z     Document Type: Article

References (34)

1. Devos, H., Rodd, C., Gagne, N., Laframboise, R., and Van Vliet, G. (1999). J. Clin. Endocrinol. Metab. 84, 2502-2506.
2. Castanet, M., Polak, M., Bonaiti-Pellie, C., Lyonnet, S., Czernichow, P., and Leger, J. (2001). J. Clin. Endocrinol. Metab. 86, 2009-2014.
3. Olivieri, A., Stazi, M. A., Mastroiacovo, P., et al. (2002). J. Clin. Endocrinol. Metab. 87, 557-562.
4. Grant, D. B., Smith, I., Fuggle, P. W., Toker, S., and Chapple, J. (1992). Arch. Dis. Child. 67, 87-90.
5. Castanet, M., Lyonnet, S., Bonaiti-Pellie, C., Polak, M., Czernichow, P., and Leger, J. (2000). N. Engl. J. Med. 343, 441-442.
6. Vassart, G. and Dumont, J. E. (1992). Endocr. Rev. 13, 596-611.
7. Libert, F., Passage, E., Lefort, A., Vassart, G., and Mattiei, M. G. (1990). Cytogenet. Cell Genet. 54, 82-83.
8. Gross, B., Misrahi, M., Sar, S., and Milgrom, E. (1991). Biochem. Biophys. Res. Commun. 177, 679-687.
9. Corvilain, B., Van Sande, J., Dumont, J. E., and Vassart, G. (2001). Clin. Endocrinol. 55, 143-158.
10. Sunthornthepvarakul, T., Hayashi, Y., and Refetoff, S. (1995). N. Engl. J. Med. 332, 155-160.
11. De Roux, N., Misrahi, M., Brauner, R., et al. (1996). J. Clin. Endocrinol. Metab. 81, 4229-4235.
12. Abramowicz, M. J., Duprez, L., Parma, J., Vassart, G., and Heinrich, C. (1997). J. Clin. Invest. 99, 3018-3024.
13. Biebermann, H., Schoneberg, T., Krude, H., Schuktz, G, Gudermann, T., and Gruters, A. (1997). J. Clin. Endocrinol. Metab. 82, 3471-3480.
14. Clifton-Bligh, R. J., Gregory, J. W., Ludgate, M., et al. (1997). J. Clin. Endocrinol. Metab. 82, 1094-1100.
15. Gagne, N., Parma, J., Deal, C., Vassart, G., and Van Vliet, G. (1998). J. Clin. Endocrinol. Metab. 83, 1771-1775.
16. Russo, D., Betterle, C., Arturi, F., Chiefari, E., Girelli, M. E., and Filetti, S. (2000). J. Clin. Endocrinol. Metab. 85, 4238-4242.
17. Tonacchera, M., Agretti, P., Pinchera, A., et al. (2000). J. Clin. Endocrinol. Metab. 85, 1001-1008.
18. Nagashima, T., Murakami, M., Onigata, K., et al. (2001). Thyroid 11, 551-559.
19. Alberti, L., Proverbio, M. C., Costagliola, S., et al. (2002). J. Clin. Endocrinol. Metab. 87, 2549-2555.
20. Richter-Unruh, A., Hauffa, B. P., Pfarr, N., and Pohlenz, J. (2004). Thyroid 14, 971-974.
21. Camilot, M., Teofoli, F., Gandini, A., et al. (2005) Clin. Endocrinol. 63, 146-151.
22. Fricke-Otto, S., Pfarr, N., Muhlenberg, R., Pohlenz, J. (2005). Exp. Clin. Endocrinol. Diabetes 113, 582-585.
23. Tsunekawa, K., Onigata, K., Morimura, T., et al. (2006). Thyroid 16, 471-479.
24. Van Sande, J., Parma, J., Tonacchera, M., Swillens, S., Dumont, J., and Vassart, G. (1995). J. Clin. Endocrinol. Metab. 80, 2577-2585.
25. De Felice, M. and Di Lauro, R. (2004). Endocr. Rev. 25, 722-746.
26. Park, S. M., Clifton-Bligh, R. J., Betts. P., and Chatterjee, V. K. K. (2004). Clin. Endocrinol. 60, 220-227.
27. Shibayama, K., Ohyama, Y., Hishinuma, A., et al. (2005). Pediatr. Int. 47, 105-108.
28. Cuddhihy, R. M., Dutton, C. M., and Bahn, R. S. (1995). Thyroid 5, 89-95.
29. Gabriel, E. M., Bergert, E. R., Grant, C. S., Van Heerden, J. A., Thompson, G. B., and Morris, J. C. (1999). J. Clin. Endocrinol. Metab. 84, 3328-3335.
30. Rapaport, R., Sills, I., Patel, U., et al. (1993). J. Clin. Endocrinol. Metab. 77, 889-894.
31. Daliva, A. L., Linder, B., DiMartino-Nardi, J., and Saenger, P. (2000). J. Pediatr. 136, 53-56.
32. Pop, V. J., Kuijpens, J. L., Van Baar, A. L., et al. (1999). Clin. Endocrinol. 50, 149-155.
33. Haddow, J. E., Palomaki, G. E., Allan, W. C., et al. (1999). N. Engl. J. Med. 341, 549-555.
34. De Roux, N., Misrahi, M., Chatelain, N., Gross, B., and Milgrom, E. (1996). Mol. Cell. Endocrinol. 117, 253-256.