ReviewMolecular and cellular endocrinology2010
Genetics and phenomics of hypothyroidism and goiter due to NIS mutations.
Review in Molecular and cellular endocrinology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
29 citing papers in PubMed, 80 citations in OpenAlex.
- 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
- Sodium/Iodide Symporter Metastable Intermediates Provide Insights into Conformational Transition between Principal Thermodynamic States.The journal of physical chemistry. B · 2023Article
- Transcriptome Profile of Thyroid Glands in Bile Duct Ligation Mouse Model.International journal of molecular sciences · 2022Article
- Article
- The Thyroid Hormone Transporter Mct8 Restricts Cathepsin-Mediated Thyroglobulin Processing in Male Mice through Thyroid Auto-Regulatory Mechanisms That Encompass Autophagy.International journal of molecular sciences · 2021Article
- Tumor Mutation Burden Predicts Relapse in Papillary Thyroid Carcinoma With Changes in Genes and Immune Microenvironment.Frontiers in endocrinology · 2021Article
- Novel Compound Heterozygous Pathogenic Mutations ofFrontiers in endocrinology · 2021Article
- Mapping of Ion and Substrate Binding Sites in Human Sodium Iodide Symporter (hNIS).Journal of chemical information and modeling · 2020Article
- A Novel Missense Mutation in the SLC5A5 Gene in a Sudanese Family with Congenital Hypothyroidism.Thyroid : official journal of the American Thyroid Association · 2018Article
- Genetic and functional analysis of two missenseOncotarget · 2018Article
- The Role of the NIS (SLC5A5) Gene in Papillary Thyroid Cancer: A Systematic Review.International journal of endocrinology · 2018Review
- Papillary thyroid cancer in a patient with congenital goitrous hypothyroidism due to a novel deletion in NIS gene.Endocrine · 2016Article
- Congenital hypothyroidism and thyroid dyshormonogenesis: a case report of siblings with a newly identified mutation in thyroperoxidase.Journal of pediatric endocrinology & metabolism : JPEM · 2016Article
- Analysis of the T354P mutation of the sodium/iodide cotransporter gene in children with congenital hypothyroidism due to dyshormonogenesis.Advanced biomedical research · 2016Article
- Genomics and phenomics of Hashimoto's thyroiditis in children and adolescents: a prospective study from Southern India.Annals of translational medicine · 2015Article
- Rare thyroid non-neoplastic diseases.Thyroid research · 2015Article
- Common subclinical hypothyroidism during Whipple's disease.BMC infectious diseases · 2014Article
- High-throughput screening of mouse gene knockouts identifies established and novel skeletal phenotypes.Bone research · 2014Article
- Iodide transport: implications for health and disease.International journal of pediatric endocrinology · 2014Article
- Oral contrast enhances the resolution of in-life NIS reporter gene imaging.Cancer gene therapy · 2013Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
Abstract
Molecular cloning of the NIS gene in 1996 allowed examination of the molecular basis of congenital hypothyroidism due to iodide transport defect (ITD) many years after the first case was described by Federman et al. in 1958. Since 1997, when the first NIS mutation causing ITD was identified and characterized, 12 different NIS molecular defects have been described in 31 ITD patients. Interestingly, marked clinical heterogeneity between patients with the same NIS mutation and in patients with different mutations in the NIS gene without a clear genotype-phenotype correlation has been observed. The study of NIS mutations as the molecular basis of ITD has not only yielded extremely valuable structure/function information on NIS, but has also provided an important tool for preclinical diagnosis and genetic counseling of ITD patients.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.