Resistance to thyroid hormone in a family with no TRβ gene anomaly: Pathogenic hypotheses;Resistance aux hormones thyroidiennes sans anomalie du gene TRβ: Hypotheses pathogeniques

Annales d'Endocrinologie

Volumn 61, Issue 3, 2000, Pages 194-199

  Vlaeminck Guillem, V ^a   Margotat, A ^a   Torresani, J ^a   D'Herbomez, M ^a   Decoulx, M ^a   Wemeau, J L ^a  

^a LILLE UNIVERSITY HOSPITAL   (France)

Author keywords

Resistance to thyroid hormones; Thyroid hormone receptors; TR gene

Indexed keywords

ANTITHYROID AGENT; DEXTROTHYROXINE; LIOTHYRONINE RECEPTOR;

ADULT; ARTICLE; CLINICAL ARTICLE; FEMALE; GENETIC LINKAGE; GOITER; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; SUBTOTAL THYROIDECTOMY; THYROID HORMONE RESISTANCE; THYROTOXICOSIS;

ADULT; DINUCLEOTIDE REPEATS; FEMALE; HAPLOTYPES; HUMANS; LINKAGE (GENETICS); MUTATION; PEDIGREE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTORS, THYROID HORMONE; SEQUENCE ANALYSIS, DNA; THYROID HORMONE RESISTANCE SYNDROME; THYROTROPIN; THYROTROPIN-RELEASING HORMONE; THYROXINE; TRIIODOTHYRONINE;

EID: 0033822674     PISSN: 00034266     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (33)

1. Divergent roles for thyroid hormone receptor beta isoforms in the endocrine axis and auditory system
2. 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
3. Pituitary resistance to thyroid hormones
4. A point mutation (Ala 229 to Thr) in the hinge domain of the c-erbA beta thyroid hormone receptor gene in a family with generalized thyroid hormone resistance
5. The role of selenium in thyroid hormone action
6. Prevalence and mechanisms of hearing loss in patients with resistance to thyroid hormone
7. Hormone-nuclear receptor interactions in health and disease. Thyroid hormone resistance
8. A transcriptional co-repressor that interacts with nuclear hormone receptors
9. A role for helix 3 of the TRbeta ligand-binding domain in coactivator recruitment identified by characterization of a third cluster of mutations in resistance to thyroid hormone
10. Cytosolic 3,5,3'-triiodo-L-thyronine (T3)-binding protein (CTBP) regulation of nuclear T3 binding: Evidence for the presence of T3-CTBP complex-binding sites in nucleic
11. Ligand-independent repression by the thyroid hormone receptor mediated by a nuclear receptor co-repressor
12. Hyperthyroxinaemia due to decreased peripheral triiodothyronine production
13. Partial peripheral resistance to thyroid hormone
14. Euthyroid hyperthyroxinemia due to a generalized 5'-deiodinase defect
15. Interaction of thyroid hormone receptor with a conserved transcriptional mediator
16. Euthyroid familial hyperthyroxinemia
17. Correlations of language abnormalities with localization of mutations in the β thyroid hormone receptor in 13 kindreds with generalized resistance to thyroid hormone
18. Analysis of the T3 receptor genes in patients with generalized resistance to thyroid hormone and selective pituitary form
19. Sequence and characterization of a coactivator for the steroid hormone receptor superfamily
20. Five new families with resistance to thyroid hormone not caused by mutations in the thyroid hormone receptor beta gene
21. The syndromes of resistance to thyroid hormone
22. Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor beta
23. A novel resistance to thyroid hormone associated with a new mutation (T329N) in the thyroid hormone receptor beta gene
24. Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein-coding region of the thyroid hormone receptor- beta gene
25. Rapid localization of mutations in the thyroid hormone receptor-beta gene by denaturing gradient gel electrophoresis in 18 families with thyroid hormone resistance
26. Molecular diagnosis and characterization of thyroid hormone resistance syndromes
27. Purification, molecular cloning, and functional expression of the human nicodinamide-adenine dinucleotide phosphate-regulated thyroid hormone- binding protein
28. Syndromes de resistance aux hormones thyroidiennes: Bases moleculaires et pathogeniques
29. Les syndromes de resistance aux hormones thyroidiennes: Aspects cliniques
30. Dominant inheritance of resistance to thyroid hormone not linked to defects in the thyroid hormone receptor alpha or beta genes may be due to a defective cofactor
31. Mice deficient in the steroid receptor co-activator 1 (SRC-1) are resistant to thyroid hormone
32. Partial hormone resistance in mice with disruption of the steroid receptor coactivator-1 (SRC-1) gene