Resistance to thyroid hormone

Hormone Research in Paediatrics

Volumn 48, Issue 4, 1997, Pages 43-46

  Chatterjee, V K K ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

Dominant negative; Hormone resistance; Nuclear hormone receptor; Thyroid hormone action

Indexed keywords

THYROID HORMONE; THYROID HORMONE RECEPTOR; THYROTROPIN;

ATTENTION DEFICIT DISORDER; BINDING SITE; CLINICAL FEATURE; CONFERENCE PAPER; DOMINANT INHERITANCE; FAILURE TO THRIVE; GENE MUTATION; GOITER; HEART DISEASE; HORMONE BINDING; HORMONE RELEASE; HORMONE RESISTANCE; HUMAN; HUMAN CELL; HYPOPHYSIS FUNCTION; MOLECULAR GENETICS; PRIORITY JOURNAL; PROTEIN DNA BINDING; THYROID HORMONE BLOOD LEVEL; THYROID HORMONE RESISTANCE; THYROTOXICOSIS; TISSUE DISTRIBUTION;

ADULT; GENES, DOMINANT; HUMANS; MUTATION; NUCLEAR FAMILY; PITUITARY GLAND; RECEPTORS, THYROID HORMONE; SEX HORMONE-BINDING GLOBULIN; THYROID HORMONE RESISTANCE SYNDROME; THYROID HORMONES; THYROTOXICOSIS; THYROTROPIN;

EID: 0030707947     PISSN: 16632818     EISSN: 16632826     Source Type: Journal    
DOI: 10.1159/000191312     Document Type: Article

References (16)

1. Chin WW: Nuclear thyroid hormone receptors; in Parker MG (ed): Nuclear Hormone Receptors. First Edition. London. Academic Press. 1991, pp 79-102.
2. Lazar MA: Thyroid hormone receptors: multiple forms, multiple possibilities. Endocr Rev 1993;14:184-193.
3. Refetoff S, De Wind LT, DeGroot U: Familial syndrome combining deaf-mutism, stippled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone. J Clin Endocrinol Metab 1967:2: 279-294.
4. Gershengom MC. Weintraub BD: Thyrotropin-induced hyperthyroidism caused by selective pituitary resistance to thyroid hormone. A new syndrome of inappropriate secretion of TSH. J Clin Invest 1975;56:633-642.
5. Beck-Peccoz P. Chatterjee VKK: The variable clinical phenotype in thyroid hormone resistance syndrome. Thyroid 1994:4:225-232.
6. Hauser P. Zametkin AJ. Martinez P. Vitiello B. Matochik JA. Mixson J. Weintraub BD: Atten-tion-deficil hyperactivity disorder in people with generalized resistance to thyroid hormone. N Engl J Med 1993;328:997-1001.
7. Brucker-Davis F, Skarulis M. Pikus A, Ishiza-war D. Mastroianni M-A, Koby M. Weintraub BD: Prevalence and mechanisms of hearing loss in patients with resistance to thyroid hormone. J Clin Endocr Metab 1996:81:2768-2772.
8. Brucker-Davis F. Skarulis MC, Grace MB, Be-nichou J. Hauser P, Wiggs E, Weintraub BD: Genetic and clinical features of 42 kindreds with resistance to thyroid hormone. Ann Intern Med 1995;123:572-583.
9. Refetoff S, Weiss RE, Usala SJ: The syndromes of resistance to thyroid hormone. Endocr Rev 1993;14:348-399.
10. Adams M. Matthews CH. Collingwood TN. Tone Y. Beck-Peccoz P. Chattcrjee VKK: Genetic analysis of twenty-nine kindreds with generalised and pituitary resistance to thyroid hormone. J Clin Invest 1994:94:506-515.
11. Collingwood TN, Adams M, Tone Y, Chatter-jee VKK: Spectrum of transcriptional, dimeri-zation and dominant negative properties of twenty different mutant thyroid hormone P receptors in thyroid hormone resistance syndrome. Mol Endocrinol 1994:8:1262-1277.
12. Takeda K. Sakurai A. DeGroot LJ. Refetoff S: Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein-coding region of the thyroid hormone receptor-β gene. J Clin Endocrinol Metab 1992; 74:49-55.
13. Ono S, Schwartz ID, Mueller OT. Root AW, Usala SJ. Bercu BB: Homozygosity for a dominant negative thyroid hormone receptor gene responsible for generalized thyroid hormone resistance. J Clin Endocrinol Metab 1991:73: 990-994.
14. Nagaya T. Jameson JL: Thyroid hormone receptor dimérisation is required for dominant negative inhibition by mutations that cause thyroid hormone resistance. J Biol Chcm 1993; 268:15766-15771.
15. Mixson AJ, Renault JC, Ransom S, Bodenner DL, Weintraub BD: Identification of a novel mutation in the gene encoding the β-triiodothy-ronine receptor in a patient with apparent selective pituitary resistance to thyroid hormone. Clin Endocrinol 1993:38:227- 234.
16. Mixson AJ, Hauser P, Tennyson G, Renault JC, Bodenner DL, Weintraub BD: Differential expression of mutant and normal beta T3 receptor alleles in kindreds with generalized resistance to thyroid hormone. J Clin Invest 1993;91:2296-2300.