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Article

A homozygous missense mutation of the sodium/iodide symporter gene causing iodide transport defect.

The Journal of clinical endocrinology and metabolism - 1 Dec 1997

Matsuda A, Kosugi S

Abstract excerpt

Iodide transport defect is a disorder characterized by an inability of the thyroid to maintain an iodide concentration difference between the plasma and the thyroid. The recent cloning of the sodium/iodide symporter (NIS) gene enabled us to characterize the NIS gene in this disorder. We identifie...

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Identifiers

PMID: 9398697
DOI: 10.1210/jcem.82.12.4425

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-9398697-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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A homozygous missense mutation of the sodium/iodide symporter gene causing iodide transport defect.PMID 9398697Read ↗

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

Novel, missense and loss-of-function mutations in the sodium/iodide symporter gene causing iodide transport defect in three Japanese patients.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 ↗

A novel peculiar mutation in the sodium/iodide symporter gene in spanish siblings with iodide transport defect.Semantic proximity Read ↗

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

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

Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site.Semantic proximity Read ↗

High prevalence of T354P sodium/iodide symporter gene mutation in Japanese patients with iodide transport defect who have heterogeneous clinical pictures.Semantic proximity Read ↗

A novel mutation in the sodium/iodide symporter gene in the largest family with iodide transport defect.Semantic proximity Read ↗

The sodium/iodide Symporter (NIS): characterization, regulation, and medical significance.Semantic proximity Read ↗

Conserved charged amino acid residues in the extracellular region of sodium/iodide symporter are critical for iodide transport activity.Semantic proximity Read ↗

Recurrent T354P mutation of the Na+/I- symporter in patients with iodide transport defect.Semantic proximity Read ↗

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