ReviewEuropean thyroid journal2014
Clinical Consequences of Mutations in Thyroid Hormone Receptor-α1.
Review in European thyroid journal, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 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.
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Who cites it
15 citing papers in PubMed, 38 citations in OpenAlex.
- Article
- Stromal cells in normal colon and colon cancers: importance of thyroid hormone signaling.Cell death & disease · 2025Review
- [A case of thyroid hormone resistance syndrome due to previously undescribed mutation in theProblemy endokrinologii · 2025Article
- Dual Diagnosis of Nongoitrous Congenital Hypothyroidism-6 and Snijders Blok-Campeau Syndrome.Molecular syndromology · 2024Article
- Article
- A Pivotal Genetic Program Controlled by Thyroid Hormone during the Maturation of GABAergic Neurons.iScience · 2020Article
- Article
- Thyroid Hormone Receptor Alpha Mutations Lead to Epithelial Defects in the Adult Intestine in a Mouse Model of Resistance to Thyroid Hormone.Thyroid : official journal of the American Thyroid Association · 2019Article
- Thyroid Hormone Hyposensitivity: From Genotype to Phenotype and Back.Frontiers in endocrinology · 2019Review
- Thyroid Hormones in the Brain and Their Impact in Recovery Mechanisms After Stroke.Frontiers in neurology · 2019Review
- Thyroid diseases and bone health.Journal of endocrinological investigation · 2018Review
- A clinician's guide to understanding resistance to thyroid hormone due to receptor mutations in the TRα and TRβ isoforms.Clinical diabetes and endocrinology · 2017Article
- Thyroid hormone receptor-β1 signaling is critically involved in regulating secondary ossification via promoting transcription of the Ihh gene in the epiphysis.American journal of physiology. Endocrinology and metabolism · 2016Article
- Role of Thyroid Hormones in Skeletal Development and Bone Maintenance.Endocrine reviews · 2016Review
- Resistance to thyroid hormone due to a novel mutation of thyroid hormone receptor beta gene.Annals of pediatric endocrinology & metabolism · 2014Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Thyroid hormone (TH) exerts its biological activity via the TH receptors TRα1 and TRβ1/2, which are encoded by the THRA and THRB genes. The first patients with mutations in THRB were identified decades ago. These patients had a clinical syndrome of resistance to TH associated with high serum TH and nonsuppressed thyroid-stimulating hormone levels. Until recently, no patients with mutations in THRA had been identified. In an attempt to predict the clinical phenotype of such patients, different TRα1 mutant mouse models have been generated. These mice have a variable phenotype depending on the location and severity of the mutation. Recently, the first humans with mutations in THRA were identified. Their phenotype consists of relatively low serum T4 and high serum T3 levels (and thus an elevated T3/T4 ratio), growth retardation, delayed mental and bone development, and constipation. While, in retrospect, certain features present in humans can also be found in mouse models, the first humans carrying a defect in TRα1 were not suspected of having a THRA gene mutation initially. The current review focuses on the clinical consequences of TRα1 mutations.
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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.