Trial reportMolecular medicine reports2019
Identification of a novel mutation in the thyroid hormone receptor β gene that causes thyroid hormone resistance syndrome: A case report.
Trial report in Molecular medicine reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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
5 citing papers in PubMed, 5 citations in OpenAlex.
- Identification of a novel THRB mutation causing thyroid hormone resistance syndrome.Archives of endocrinology and metabolism · 2026Article
- R243W Mutation in Thyroid Hormone Resistance Syndrome Beta: A Case Report.Journal of the ASEAN Federation of Endocrine Societies · 2024Article
- Thyroid hormone resistance syndrome due to a novel heterozygous mutation and concomitant Hashimoto's Thyroiditis: A pedigree report.The Journal of international medical research · 2022Article
- Article
- Genomic and Non-Genomic Mechanisms of Action of Thyroid Hormones and Their Catabolite 3,5-Diiodo-L-Thyronine in Mammals.International journal of molecular sciences · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Thyroid hormone resistance syndrome is a rare disease in which the level of thyroid hormone is elevated and the level of thyroid stimulating hormone is not suppressed. Mutations in the thyroid hormone receptor β (THRβ) gene are thought to be the primary cause of pathogenesis. In the present study, a Chinese boy of 4 years and 8 months, who had been pre‑diagnosed with resistance to thyroid hormone, was assessed for mutations. The clinical features and thyroid function of the proband and his parents were collected and gene mutations were analyzed using DNA sequencing. Gene sequencing showed that the THRβ genes in the parents of the proband were consistent with the standard sequence, however, in the proband there was a mutation in the tenth exon of the THRβ gene (c. 824 T>C). This is a newly identified mutation site and, to the best of our knowledge, there have been no previous reports of this mutation site. Therefore, it is hypothesized that this mutation is the cause of the pathology in the proband.
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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 OpenQuestion graph.