ReviewClinical endocrinology2022
Genetic disorders of thyroid development, hormone biosynthesis and signalling.
Review in Clinical endocrinology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 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
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 53 citations in OpenAlex.
- 2024 European Thyroid Association Guidelines on diagnosis and management of genetic disorders of thyroid hormone transport, metabolism and action.European thyroid journal · 2024Guideline
- The human THRB thyroid hormone receptor gene and the puzzle of retinal disease phenotypes.Developmental biology · 2026Review
- TRIAC Therapy Relieves Hyperthyroid Symptoms, Lowering T4, T3, and Metabolic Rate in Resistance to Thyroid Hormone β.The Journal of clinical endocrinology and metabolism · 2026Article
- Exploring cardiovascular risk in subclinical hypothyroidism: The impact of TSHR gene expression and systemic biomarkers.Journal of cardiovascular and thoracic research · 2026Article
- Iopanoic acid rapidly restores euthyroidism in refractory thyrotoxicosis pre-thyroidectomy: a retrospective study.European thyroid journal · 2026Review
- Deletion of miR-122-5p Exacerbated Hyperthyroidism-Induced Liver Injury by Regulating Ferroptosis.International journal of endocrinology · 2026Article
- The role of DUOXA2 in the clinical diagnosis of paediatric congenital hypothyroidism.Annals of medicine · 2025Review
- Characteristics of Dyslipidemia in Adults With Resistance to Thyroid Hormone β.Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists · 2025Article
- Cardiomyopathies of endocrine origin: A state-of-the-art review.World journal of cardiology · 2025Review
- Trisomy 21 Disrupts Thyroid Hormones Signaling During Human iPSC-Derived Neural Differentiation In Vitro.Cells · 2025Article
- Lifestyle Interventions to Tackle Cardiovascular Risk in Thyroid Hormone Signaling Disorders.Nutrients · 2025Review
- Cardiovascular Risk and Plasma N-terminal Pro-B-type Natriuretic Peptide in Adults With Resistance to Thyroid Hormone β.Journal of the Endocrine Society · 2025Article
- Primary congenital hypothyroidism: a clinical review.Frontiers in endocrinology · 2025Review
- EndoCompass Project: Research Roadmap for Thyroid Endocrinology.Hormone research in paediatrics · 2025Review
- Permanent Congenital Hypothyroidism due to Rare Thyroglobulin Gene Variant (p.Cys1476Arg): A Delayed Diagnosis of Thyroid Dyshormonogenesis.Case reports in medicine · 2025Article
- Nuclear receptor corepressor 1 levels differentially impact the intracellular dynamics of mutant thyroid hormone receptors associated with resistance to thyroid hormone syndrome.Molecular and cellular endocrinology · 2024Article
- Three-Leaf-Clover Thyroid and Minimally Invasive Trans-Cervical Synchronous Thyroidectomy and Ectopic Mediastinal Thyroid Tissue Removal: Does the Age of the Patient Count amid a Multifaceted Strategy?Clinics and practice · 2024Article
- Approach to the Patient With Raised Thyroid Hormones and Nonsuppressed TSH.The Journal of clinical endocrinology and metabolism · 2024Article
- Maternal Resistance to Thyroid Hormone β and Pregnancy Outcomes.The Journal of clinical endocrinology and metabolism · 2023Article
- GLIS3 regulates transcription of thyroid hormone biosynthetic genes in coordination with other thyroid transcription factors.Cell & bioscience · 2023Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
Abstract
Development and differentiation of the thyroid gland is directed by expression of specific transcription factors in the thyroid follicular cell which mediates hormone biosynthesis. Membrane transporters are rate-limiting for cellular entry of thyroid hormones (TH) (T4 and T3) into some tissues, with selenocysteine-containing, deiodinase enzymes (DIO1 and DIO2) converting T4 to the biologically active hormone T3. TH regulate expression of target genes via hormone-inducible nuclear receptors (TRα and TRβ) to exert their physiological effects. Primary congenital hypothyroidism (CH) due to thyroid dysgenesis may be mediated by defects in thyroid transcription factors or impaired thyroid stimulating hormone receptor function. Dyshormonogenic CH is usually due to mutations in genes mediating thyroidal iodide transport, organification or iodotyrosine synthesis and recycling. Disorders of TH signalling encompass conditions due to defects in membrane TH transporters, impaired hormone metabolism due to deficiency of deiodinases and syndromes of Resistance to thyroid hormone due to pathogenic variants in either TRα or TRβ. Here, we review the genetic basis, pathogenesis and clinical features of congenital, dysgenetic or dyshormonogenic hypothyroidism and disorders of TH transport, metabolism and action.
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What OpenQuestion holds
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.