Thyroid function in Rubinstein-Taybi syndrome

Journal of Clinical Endocrinology and Metabolism

Volumn 82, Issue 10, 1997, Pages 3264-3266

  Olson, David P ^a   Koenig, Ronald J ^a  

^a UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CRANIOFACIAL MALFORMATION; DISEASE ASSOCIATION; FEMALE; FREE THYROXINE INDEX; GENE MUTATION; GROWTH RETARDATION; HUMAN; HYPOTHYROIDISM; MALE; MENTAL DEFICIENCY; PRIORITY JOURNAL; RUBINSTEIN SYNDROME; THUMB MALFORMATION; THYROTROPIN BLOOD LEVEL;

CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; MALE; REFERENCE VALUES; RUBINSTEIN-TAYBI SYNDROME; THYROID GLAND; THYROTROPIN; THYROXINE;

EID: 0030986462     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.82.10.3264     Document Type: Article

References (21)

1. Rubinstein JH. 1990 Broad thumb-hallux (Rubinstein-Taybi) syndrome 1957-1988. Am J Med Genet. 6(Suppl):3-16.
2. Stevens CA, Bhakta MG. 1995 Cardiac abnormalities in the Rubinstein-Taybi syndrome. Am J Med Genet. 59:346-348.
3. Miller RW, Rubinstein JH. 1995 Tumors in Rubinstein-Taybi syndrome. Am J Med Genet. 56:112-115.
4. Roy FH, Summitt RL, Hiatt RL. 1968 Ocular manifestations of the Rubinsiein-Taybi syndrome: case report and review of the literature. Arch Ophthal. 79:272-278.
5. Petrij F, Giles RH, Dauwerse HG, et al. 1995 Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature. 376:348-351.
6. Chrivia JC, Kwok RPS, Lamb N, Hagiwara M, Montminy MR, Goodman RH. 1993 Phosphorylated CREB binds specifically to the nuclear protein CBP. Nature. 365:855-859.
7. Arias J, Alberts AS, Brindle P, et al. 1994 Activation of cAMP and mitogen responsive genes relies on a common nuclear factor. Nature. 3711:226-229.
8. Chakravarti D, LaMorte VJ, Nelson MC, et al. 1996 Role of CBP/p300 in nuclear receptor signalling. Nature. 383:99-103.
9. Bhattacharya S, Eckner R, Grossman S, et al. 1996 Cooperation of Stat2 and p300/CBP in signalling induced by interteron-alpha. Nature. 383:344-347.
10. Swope DL, Mueller CL, Chrivia JC. 1996 CREB-binding protein activates transcription through multiple domains. J Biol Chem. 271:28138-28145.
11. Bannister AJ, Kouzarides T. 1996 The CBP co-activator is a histone acetyltransferase. Nature. 384:641-643.
12. Ogryzko VV, Schlitz RL, Russanova V, Howard BH, Nakatani Y. 1996 The transcriptional coactivators p300 and CBP are histone acetyltransrerases. Cell. 87:953-959.
13. Wellington H. 1995 Thyroid disorders of infancy and childhood. In: Becker KL, ed. Principles and practice of endocrinology and metabolism, 2nd ed. Philadelphia: Lippincott; 421-430.
14. Refetoff S, Weiss RE, Usala SJ. 1993 The syndromes of resistance to thyroid hormone. Endocr Rev. 14:348-399.
15. Brucker-Davis F, Skarulis MC, Grace MB, et al. 1995 Genetic and clinical features of 42 kindreds with resistance to thyroid hormone: The National Institutes of Health Prospective Study. Ann Intern Med. 123:572-583.
16. Shupnik MA, Chin WW, Habener JF, Ridgway EC. 1985 Transcriptional regulation of the thyrotropin subunit genes by thyroid hormone. J Biol Chem. 260:29110-2903.
17. Bodenner DL, Mroczynski MA, Weintraub BD, Radovick S, Wondisford FE. 1991 A detailed functional and structural analysis of a major thyroid hormone inhibitory element in the human thyrotropin beta-subunit gene. J Biol Chem. 266:21666-21673.
18. Pennathur S, Madison LD, Kay TWH, Jameson JL. 1993 Localisation of promoter sequences required for thyrotropin-releasing hormone and thyroid hormone responsiveness of the glycoprotein hormone alpha-gene in primary cultures of rat pituitary cells. Mol Endocrinol. 7:797-805.
19. Hollenberg AN, Monden T, Flynn TR, Boers ME, Cohen O, Wondisford FE. 1995 The human thyrotropin-releasing hormone gene is regulated by thyroid hormone through two distinct classes of negative thyroid hormone response elements. Mol Endocrinol. 9:540-550.
20. Steinfelder HJ, Radovick S, Mroczynski MA, et al. 1992 Role of a pituitary-specific transcription factor (Pit-1/GHE-1) or a closely related protein in cAMP regulation of human thyrotropin-beta subunit gene expression. J Clin Invest. 89:409-419.
21. Stevenin BS, Legradi G, Lee SL, Lechan RM. CREB activates TRH gene transcription and colocalizes with CBP in TRH neurons of the hypothalamic paraventrieular nucleus. Proc of the 77th Annual Meet of The Endocrine Soc. 1995; 411.