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Article

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

The Journal of clinical endocrinology and metabolism - 1 Sept 1998

Kosugi S, Inoue S, Matsuda A, Jhiang S M

Abstract excerpt

Iodide transport defect is a disorder affecting the active transport of iodide, an essential step in the synthesis of thyroid hormones. We have identified novel germ-line mutations in the Na+/I- symporter (NIS) gene from three Japanese patients with iodide transport defect. One patient had a compound heterozygous mutation of T354P/G93R (Gly93-->Arg [GGC-->CGC]), and two sibling patients had a homozygous mutation...

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PMID: 9745458
DOI: 10.1210/jcem.83.9.5245

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Novel, missense and loss-of-function mutations in the sodium/iodide symporter gene causing iodide transport defect in three Japanese patients.PMID 9745458Read ↗

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

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

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

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

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

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

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 ↗

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

[Iodide transport defect (abnormalities in the Na+/I(-) symporter gene)].Semantic proximity Read ↗

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