ArticleAdvanced biomedical research2016
Analysis of the T354P mutation of the sodium/iodide cotransporter gene in children with congenital hypothyroidism due to dyshormonogenesis.
Article in Advanced biomedical research, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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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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1 citing paper in PubMed, 1 citations in OpenAlex.
- Clinical Insight into Congenital Hypothyroidism Among Children.Children (Basel, Switzerland) · 2025Review
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6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCongenital hypothyroidism (CH) due to the thyroid dyshormonogenesis is more prevalent in Iran in comparison to other countries. Sodium iodide symporter (NIS) is one of the plasma membrane glycoproteins that is located on the basolateral side of thyroid follicular cells and mediates active I(-) trapping into these cells. Playing a prominent role in thyroid hormone synthesis, NIS gene mutations can be a cause of permanent CH with the etiology of dyshormonogenesis. The aim of this study was to investigate the occurrence of T354P mutation of the NIS gene, in a group of children affected with permanent CH in Isfahan. MATERIALS AND
methodsThirty-five patients with the etiology of dyshormonogenesis, and 35 healthy children, collected between 2002 and 2011 in Isfahan Endocrine and Metabolism Research Center, were examined for T354P mutation of the NIS gene by direct polymerase chain reaction-sequencing method.
resultsNo T354P mutation was detected in any of the studied children.
conclusionsMore subjects with confirmed iodide transport defects should be screened for detecting the frequency of different reported NIS gene mutations in our population.
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