ArticleThe Journal of clinical investigation1994
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.
Article in The Journal of clinical investigation, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
55 citing papers in PubMed, 1 synthesis or guideline pooled it.
- 2024 European Thyroid Association Guidelines on diagnosis and management of genetic disorders of thyroid hormone transport, metabolism and action.European thyroid journal · 2024Guideline
- Identification of a novel mutation in the thyroid hormone receptor β gene that causes thyroid hormone resistance syndrome: A case report.Molecular medicine reports · 2019Trial
- Identification of a novel THRB mutation causing thyroid hormone resistance syndrome.Archives of endocrinology and metabolism · 2026Article
- [Resistance to thyroid hormone syndrome with developmental disorders in two children].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026Article
- Effective TRIAC treatment of a THRβ-mutated patient with thyroid hormone resistance.Endocrine · 2024Article
- Approach to the Patient With Raised Thyroid Hormones and Nonsuppressed TSH.The Journal of clinical endocrinology and metabolism · 2024Article
- Expanding the phenotype ofFrontiers in cell and developmental biology · 2023Article
- Atrial Fibrillation with Heart Failure in a Case with Resistance to Thyroid Hormone Due to a Rare Thyroid Hormone Receptor β Gene Mutation.International journal of molecular sciences · 2022Article
- Resistance to Thyroid Hormones: A Case-Series Study.International journal of molecular sciences · 2022Article
- Severe Resistance to Thyroid Hormone Beta in a Patient with Athyreosis.Thyroid : official journal of the American Thyroid Association · 2022Article
- Resistance to thyroid hormone caused by heterozygous mutation of thyroid hormone receptor B gene c.G1378A: Report of one Chinese pedigree and literature review.Clinical case reports · 2021Article
- Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ).Molecular diagnosis & therapy · 2019Review
- Resistance to thyroid hormone β in autoimmune thyroid disease: a case report and review of literature.BMC pregnancy and childbirth · 2018Review
- Assessing the clinical and molecular diagnosis of inherited forms of impaired sensitivity to thyroid hormone from a single tertiary center.Endocrine · 2018Article
- The Mutant Thyroid Hormone Receptor Beta R320P Causes Syndrome of Resistance to Thyroid Hormone.Case reports in endocrinology · 2018Article
- Thyroid Hormone Resistance in Identical Twin Sisters with Atrial Fibrillation: Case Report and Review of the Literature.Journal of endocrinology and diabetes · 2018Article
- BRAFOncology letters · 2017Article
- Resistance to Thyroid Hormone - A Novel Mutation in THRβ-Gene from India.Indian journal of pediatrics · 2017Article
- Review
- Role of Thyroid Hormones in Skeletal Development and Bone Maintenance.Endocrine reviews · 2016Review
Corrections and comments
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Authors and funding
6 authors.
Funding
Abstract
Resistance to thyroid hormone (RTH), with elevated serum free thyroid hormones and nonsuppressed thyrotropin levels, is either relatively asymptomatic, suggesting a generalized disorder (GRTH) or associated with thyrotoxic features, indicating possible selective pituitary resistance (PRTH). 20 GRTH and 9 PRTH cases, sporadic or dominantly inherited, were analyzed. Affected individuals were heterozygous for single nucleotide substitutions in the thyroid hormone receptor beta gene, except for a single case of a seven nucleotide insertion. With one exception, the corresponding 13 novel and 7 known codon changes localized to and extended the boundaries of two mutation clusters in the hormone-binding domain of the receptor. 15 kindreds shared 6 different mutations, and haplotype analyses of the mutant allele showed that they occurred independently. The majority (14 out of 19) of the recurrent but a minority (1 out of 10) of unique mutations were transitions of CpG dinucleotides. Mutant receptor binding to ligand was moderately or severely impaired and did not correlate with the magnitude of thyroid dysfunction. There was no association between clinical features and the nature or location of a receptor mutation. These observations suggest that GRTH and PRTH are phenotypic variants of the same genetic disorder, whose clinical expression may be modulated by other non-mutation-related factors.
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Registered trials
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.