Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Sodium/Iodide Symporter Mutant V270E Causes Stunted Growth but No Cognitive Deficiency.

The Journal of clinical endocrinology and metabolism - 1 Oct 2015

Nicola Juan Pablo, Reyna-Neyra Andrea, Saenger Paul, Rodriguez-Buritica David F, Gamez Godoy José David, Muzumdar Radhika, Amzel L Mario, Carrasco Nancy

Abstract excerpt

CONTEXT: Iodide (I(-)), an essential constituent of the thyroid hormones, is actively accumulated in the thyroid by the Na(+)/I(-) symporter (NIS), a key plasma membrane protein encoded by the slc5a5 gene. Mutations in slc5a5 cause I(-) transport defects (ITDs), autosomal-recessive disorders in which I(-) accumulation is totally or partially impaired, leading to congenital hypothyroidism. The characterization of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cognition Disorders

Share to Congenital Hypothyroidism

Share to DNA Mutational Analysis

Share to Growth Disorders

Share to Phenotype

Share to Symporters

Source

Open in PubMed Open full text

Identifiers

PMID: 26204134
DOI: 10.1210/jc.2015-1824
PMCID: PMC4596044

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Sodium/Iodide Symporter Mutant V270E Causes Stunted Growth but No Cognitive Deficiency.PMID 26204134Read ↗

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 ↗

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 ↗

Asn441 plays a key role in folding and function of the Na+/I- symporter (NIS).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 ↗

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

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

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

Two Novel SLC5A5 Variants (Q263L and G350D) Causing Congenital Hypothyroidism.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 ↗

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

Molecular characterization of V59E NIS, a Na+/I- symporter mutant that causes congenital I- transport defect.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.