A novel mutation (M310L) in the thyroid hormone receptor β causing resistance to thyroid hormone in a Brazilian kindred and a neonate

Molecular Genetics and Metabolism

Volumn 71, Issue 3, 2000, Pages 520-526

  Furlanetto, Tania Weber ^a,b   Kopp, Peter ^a   Peccin, Simone ^b   Gu, Wen Xia ^a   Jameson, J Larry ^a  

^a NORTHWESTERN UNIVERSITY   (United States)

^b HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

Author keywords

Hormone resistance; Mutation; Neonatal diagnosis; Thyroid hormone receptor

Indexed keywords

THYROID HORMONE; THYROID HORMONE RECEPTOR; THYROTROPIN;

ADOLESCENT; ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; FEMALE; GENE MUTATION; GENETIC LINKAGE; GOITER; HORMONE RESISTANCE; HUMAN; HYPOTHYROIDISM; PATHOGENESIS; PEDIGREE; PRIORITY JOURNAL;

POMACANTHUS MACULOSUS;

EID: 0033748306     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2000.3088     Document Type: Article

References (40)

1. The syndromes of resistance to thyroid hormone
2. Syndrome of resistance to thyroid hormone: Insights into thyroid hormone action
3. Genetic and clinical features of 42 kindreds with resistance to thyroid hormone
4. Recessive inheritance of thyroid hormone resistance caused by complete deletion of the protein-coding region of the thyroid hormone receptor-beta gene
5. 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 co-factor
6. Five new families with resistance to thyroid hormone not caused by mutations in the thyroid hormone receptor beta gene
7. Variable transcriptional activity and ligand binding of mutant β1 3,5,5'-triiododthyronine receptors from four families with generalized resistance to thyroid hormone
8. Spectrum of transscriptional, dimerization, and dominant negative properties of twenty different mutant thyroid hormone betareceptors in thyroid hormone resistance syndrome
9. Mechanisms by which thyroid hormone receptor mutations cause clinical syndromes of resistance to thyroid hormone
10. Nuclear corepressors enhance the dominant negative activity of mutant receptors that cause resistance to thyroid hormone
11. Management of patients with resistance to thyroid hormone
12. Treatment of resistance to thyroid hormone-Primum non nocere
13. Prenatal diagnosis of thyroid hormone resistance
14. Evaluation of the cardiovascular system
15. Thyroid hormone resistance syndrome: Inhibition of normal receptor function by mutant thyroid hormone receptors
16. Nomenclature of thyroid hormone receptor β-gene mutations in resistance to thyroid hormone: Consensus statement from the first workshop on thyroid hormone resistance
17. Recombination and mutagenesis of DNA sequences using PCR
18. Direct repeats as selective response elements for the thyroid hormone, retinoic acid and vitamin D3 receptors
19. Thyroid hormone receptor mutants that cause resistance to thyroid hormone: Evidence for receptor competition for DNA sequences in target genes
20. Negative regulation of the thyroid-stimulating hormone a gene by thyroid hormone: Receptor interaction adjacent to the TATA box
21. Binding of 3,5,3'-triiodothyronine (T3) and its analogs to the in vitro translational products of c-erbA protooncogenes: Differences in the affinity of the α- and β-forms for the acetic analog and failure of the human testis and kidney α- 2 products to bind T3
22. Filter-binding assay procedure for thyroid hormone receptors
23. Panning transfected cells for electrophysiological studies
24. Generalized resistance to thyroid hormone associated with a mutation in the ligand-binding domain of the human thyroid hormone receptor β
25. Crescimento e desenvolvimento pubertario em criancas e adolescentes brasileiros, II. Altura e peso
26. Neonatal detection of generalized resistance to thyroid hormone
27. Detection of resistance to thyroid hormone by cord blood screening
28. Rapid localization of mutations in the thyroid hormone receptor-b gene by denaturing gradient gel electrophoresis in 18 families with thyroid hormone resistance
29. A novel point mutation of thyroid hormone receptor β gene in a family with familial resistance to thyroid hormone
30. A structural model for hormone in the thyroid hormone receptor
31. Comparison of the functional properties of three different truncated thyroid hormone receptors identified in subjects with resistance to thyroid hormone
32. Thyroid hormone resistance syndrome manifests as an aberrant interaction between mutant T3 receptor and transcriptional corepressor
33. A novel natural mutation in the thyroid hormone receptor defines a dual functional domain that exchanges nuclear receptor corepressors and coactivators
34. Successful treatment of hyperthyroidism due to nonneoplastic pituitary TSH secretion with 3.5.3'-triiodothyroacetic acid (TRIAC)
35. 3,5,3'-Triiodothyroacetic acid therapy for thyroid hormone resistance
36. Bromocriptin and Triac therapy for hyperthyroidism due to pituitary resistance to thyroid hormone
37. Successful therapy with 3,5,3'-triiodothyroacetic acid (TRIAC) in pituitary resistance to thyroid hormone
38. Clinical and hormonal outcome after two years of triiodothyroacetic acid treatment in a child with thyroid hormone resistance
39. The thyroid gland