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Article

Iodide transport defect: functional characterization of a novel mutation in the Na+/I- symporter 5'-untranslated region in a patient with congenital hypothyroidism.

The Journal of clinical endocrinology and metabolism - 1 Jul 2011

Nicola Juan Pablo, Nazar Magalí, Serrano-Nascimento Caroline, Goulart-Silva Francemilson, Sobrero Gabriela, Testa Graciela, Nunes Maria Tereza, Muñoz Liliana, Miras Mirta, Masini-Repiso Ana María

Abstract excerpt

CONTEXT: Iodide transport defect (ITD) is an autosomal recessive disorder caused by impaired Na(+)/I(-) symporter (NIS)-mediated active iodide accumulation into thyroid follicular cells. Clinical manifestations comprise a variable degree of congenital hypothyroidism and goiter, and low to absent...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21565787
DOI: 10.1210/jc.2011-0349

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21565787-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Iodide transport defect: functional characterization of a novel mutation in the Na+/I- symporter 5'-untranslated region in a patient with congenital hypothyroidism.PMID 21565787Read ↗

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A homozygous missense mutation of the sodium/iodide symporter gene causing iodide transport defect.Semantic proximity Read ↗

Molecular analysis of a congenital iodide transport defect: G543E impairs maturation and trafficking of the Na+/I- symporter.Semantic proximity Read ↗

Brief Report: A Novel Sodium/Iodide Symporter Mutation, S356F, Causing Congenital Hypothyroidism.Semantic proximity Read ↗

Targeted Next-Generation Sequencing of Congenital Hypothyroidism-Causative Genes Reveals Unexpected Thyroglobulin Gene Variants in Patients with Iodide Transport Defect.Semantic proximity Read ↗

The Iodide Transport Defect-Causing Y348D Mutation in the Na+/I- Symporter Renders the Protein Intrinsically Inactive and Impairs Its Targeting to the Plasma Membrane.Semantic proximity Read ↗

Mutations in the sodium/iodide symporter (NIS) gene as a cause for iodide transport defects and congenital hypothyroidism.Semantic proximity Read ↗

A Novel SLC5A5 Variant Reveals the Crucial Role of Kinesin Light Chain 2 in Thyroid Hormonogenesis.Semantic proximity Read ↗

Genetics and phenomics of hypothyroidism and goiter due to NIS mutations.Semantic proximity Read ↗

Hypothyroidism in a Brazilian kindred due to iodide trapping defect caused by a homozygous mutation in the sodium/iodide symporter gene.Semantic proximity Read ↗

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