A novel thyroid hormone receptor-beta mutation, not anticipated to occur in resistance to thyroid hormone, causes variable phenotypes

Hormone Research

Volumn 57, Issue 3-4, 2002, Pages 137-142

  Catargi, B ^a,d   Monsaingeon, M ^a   Bex Bachellerie, V ^a   Ronci Chaix, N ^a   Trouette, H ^a   Margotat, A ^b   Tabarin, A ^a   Beck Peccoz, P ^c  

^a BORDEAUX UNIVERSITY HOSPITAL   (France)

^b INSERM   (France)

^c UNIVERSITY OF MILAN   (Italy)

^d HAUT LÉVÊQUE HOSPITAL   (France)

Author keywords

Hyperthyroidism; Resistance to thyroid hormone; Thyroid; Thyroid hormone receptor beta

Indexed keywords

HYPOPHYSIS HORMONE; THYROID HORMONE; THYROID HORMONE RECEPTOR;

ADULT; ARTICLE; BINDING AFFINITY; BLOOD LEVEL; CASE REPORT; EXON; GENE CONTROL; GENE LOCATION; GENE MUTATION; GENETIC CODE; GOITER; HORMONE INHIBITION; HORMONE SENSITIVITY; HUMAN; HYPERTHYROIDISM; MALE; PHENOTYPE; PRIORITY JOURNAL; THYROID HORMONE RESISTANCE; THYROTROPIN BLOOD LEVEL; TOXIC GOITER; TRANSACTIVATION;

ADULT; ALKALINE PHOSPHATASE; AMINO ACID SUBSTITUTION; BONE DENSITY; CHOLESTEROL; CREATINE KINASE; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; FEMALE; FERRITINS; HUMANS; HYDROXYPROLINE; MALE; MUTATION; PEDIGREE; PHENOTYPE; POINT MUTATION; RECEPTORS, THYROID HORMONE; REFERENCE VALUES; SEX HORMONE-BINDING GLOBULIN; THYROGLOBULIN; THYROID HORMONE RECEPTORS BETA; THYROID HORMONES; TRIIODOTHYRONINE;

EID: 0036254510     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000057965     Document Type: Article

References (16)

1. The syndromes of resistance to thyroid hormone
2. The variable clinical phenotype in thyroid hormone resistance syndrome
3. Mutations of CpG dinucleotides located in the T3-binding domain of TRβ gene that appears to be devoid of natural mutations may not be detected because they are unlikely to produce the clinical phenotype of resistance to thyroid hormone
4. Glycoprotien hormone α-subunit in pituitary adenomas
5. Identical mutations in unrelated families with generalized resistance to thyroid hormone occur in cytosine-guanine-rich areas of the thyroid receptor beta gene: Analysis of 15 families
6. Resistance to thyroid hormone: An historical overview
7. Dominant negative inhibition by mutant thyroid hormone receptors is thyroid hormone response element and receptor isoform specific
8. Do clinical manifestations of resistance to thyroid hormone correlate with the functional alteration of the corresponding mutant thyroid hormone-β receptors?
9. Genetic analysis of 29 kindreds with generalized and pituitary resistance to thyroid hormone: Identification of thirteen novel mutations in the thyroid hormone receptor beta gene
10. A novel C-terminal domain in the thyroid hormone receptor selectively mediates thyroid hormone inhibition
11. Isoform variable action among thyroid hormone receptor mutants provides insight into pituitary resistance to thyroid hormone
12. Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia
13. Mechanism of nonneoplastic endocrine hyperplasia: A changing concept: A review focused on the thyroid gland
14. Hyperfunctioning thyroid nodules in toxic multinodular goiter share activating thyrotropin receptor mutations with solitary toxic adenoma
15. Autonomously functioning thyroid nodules in a patient with a thryrotropin-secreting pituitary adenoma: Possible cause-effect relationship
16. Toxic multinodular goitre in a patient with generalized resistance to thyroid hormone who harbours the R429W mutation in the thyroid receptor β gene