ArticleThe Journal of clinical investigation1993
Differential expression of mutant and normal beta T3 receptor alleles in kindreds with generalized resistance to thyroid hormone.
Article in The Journal of clinical investigation, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 66 citations in OpenAlex.
- Tissue sensitivity to thyroid hormones may change over time.European thyroid journal · 2022Article
- Resistance to Thyroid Hormone Beta: A Focused Review.Frontiers in endocrinology · 2021Review
- Syndrome of Reduced Sensitivity to Thyroid Hormones: Two Case Reports and a Literature Review.Case reports in endocrinology · 2016Article
- The syndromes of reduced sensitivity to thyroid hormone.Biochimica et biophysica acta · 2013Review
- Hormone binding induces rapid proteasome-mediated degradation of thyroid hormone receptors.Proceedings of the National Academy of Sciences of the United States of America · 2000Article
- Phenotypic variability in patients with generalised resistance to thyroid hormone.Journal of medical genetics · 1995Article
- Cell type-dependent modulation of the dominant negative action of human mutant thyroid hormone beta 1 receptors.Molecular medicine (Cambridge, Mass.) · 1995Article
- Article
- 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.The Journal of clinical investigation · 1994Article
- Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone. First workshop on thyroid hormone resistance, July 10-11, 1993, Cambridge, U.K.Journal of endocrinological investigation · 1994Review
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Thyroid hormone resistance (THR) is primarily an autosomal dominant inherited disease characterized by resistance of pituitary and peripheral tissues to the action of thyroid hormone. We investigated whether the heterogeneous phenotypic features that occur not only among kindreds but also within the same kindred might be due to the expression of differing ratios of mutant and normal receptors in tissues. Using an allele-specific primer extension method, we determined the relative expression of normal and mutant mRNAs from the fibroblasts of affected and unaffected members of two kindreds with TRH: A-H and N-N. While two affected members of A-H, as expected, had nearly equal amounts of normal and mutant hTR beta mRNA, two other members had mutant mRNA levels that accounted for at least 70% of the hTR beta mRNA. Phenotypic variability within and between kindreds with generalized resistance to thyroid hormone GRTH may be due to this differential expression of the mutant and wild type mRNA. Furthermore, when several clinical parameters of THR were compared in several affected members from two kindreds with GRTH, we found that two cases in one kindred exhibited a high mutant-to-normal hTR beta ratio and had considerably more bone resistance during their development. In certain kindreds with THR, differing ratios of normal and mutant hTR receptors may be age and growth related and may account for the reported attenuation of phenotypic symptoms with age.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.