ArticleFrontiers in endocrinology2024
Functional characterization of novel compound heterozygous missense
Article in Frontiers in endocrinology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- New Insights into Iodide Transport Defects (ITDs) from the Characterization of a Heterozygous NIS Missense Variant (p.G288S) Identified in a Family with Thyroid Dysfunction During Pregnancy.International journal of molecular sciences · 2026Article
- The SLC-ome of membrane transport: From molecular discovery to physiology and clinical applications.Physiological reviews · 2025Review
- "Case report": Whole-exome sequencing reveals compound heterozygous variants in theFrontiers in genetics · 2025Article
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Authors and funding
14 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Introduction: The sodium/iodide symporter (NIS) mediates active iodide accumulation in the thyroid follicular cell. Biallelic loss-of-function variants in the NIS-coding Objective: We aimed to identify, and if so to functionally characterize, novel pathogenic Methods: The coding region of the Results: Proposita's whole-exome sequencing revealed a novel pair of compound heterozygous missense variants in the Conclusions: We report novel compound heterozygous missense
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