ArticleInternational journal of molecular sciences2026
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.
Maddi Garate-Etxeberria, Mari Paz Lopez-Molina, Rafael Hortiguela, Pouya Alikhani, María De la Calle, Custodia García-Jimenez, Jose Carlos Moreno, Antonio De la Vieja
Abstract read
In one paragraphArticle in International journal of molecular sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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What it found
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2 · The registryThe trial behind it
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4 · The recordCorrections and comments
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5 · Who and what moneyAuthors and funding
8 authors.
Maddi Garate-EtxeberriaTumor Endocrine Unit, Chronic Disease Program (UFIEC), Instituto de Salud Carlos III, Ctra. Majadahonda a Pozuelo km 2.2, 28220 Madrid, Spain.ORCID 0009-0006-8629-2818 Mari Paz Lopez-MolinaTumor Endocrine Unit, Chronic Disease Program (UFIEC), Instituto de Salud Carlos III, Ctra. Majadahonda a Pozuelo km 2.2, 28220 Madrid, Spain.ORCID 0000-0002-9171-2606 Rafael HortiguelaTumor Endocrine Unit, Chronic Disease Program (UFIEC), Instituto de Salud Carlos III, Ctra. Majadahonda a Pozuelo km 2.2, 28220 Madrid, Spain.
Pouya AlikhaniThyroid Molecular Laboratory, Institute for Medical and Molecular Genetics (INGEMM), La Paz University Hospital Research Institute (IdiPAZ), 28029 Madrid, Spain.
María De la CalleDepartment of Obstetrics and Gynecology, La Paz University Hospital, 28046 Madrid, Spain.
Custodia García-JimenezArea of Physiology, Faculty of Health Sciences, University Rey Juan Carlos (URJC), 28922 Madrid, Spain.
Jose Carlos MorenoThyroid Molecular Laboratory, Institute for Medical and Molecular Genetics (INGEMM), La Paz University Hospital Research Institute (IdiPAZ), 28029 Madrid, Spain.
Antonio De la ViejaTumor Endocrine Unit, Chronic Disease Program (UFIEC), Instituto de Salud Carlos III, Ctra. Majadahonda a Pozuelo km 2.2, 28220 Madrid, Spain.ORCID 0000-0002-1187-1907 Funding
Instituto de Salud Carlos III PI24CIII/00054Ministerio de Ciencia, Innovación y Universidades PID2021-125948OB-I00/AEI/10.13039/501100011033
6 · The paper itselfAbstract
Indexed as
IodidesMutation, MissensePregnancy ComplicationsSymportersThyroid DiseasesBiological TransportFemaleHEK293 CellsHeterozygoteHumansPedigreePregnancySodium-Iodide SymportersIodidesSodium-Iodide SymportersSymportersheterozygous variantiodide affinityiodide transport defectNIS dimerizationNIS traffickingSLC5A5sodium/iodide symporterthyroid dysfunction during pregnancy
Identifiers
PMID42352885
PMCPMC13299470
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