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

doi:10.1210/clinem/dgab283

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Article

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

The Journal of clinical endocrinology and metabolism - 16 Jun 2021

Martín Mariano, Modenutti Carlos Pablo, Gil Rosas Mauco Lucas, Peyret Victoria, Geysels Romina Celeste, Bernal Barquero Carlos Eduardo, Sobrero Gabriela, Muñoz Liliana, Signorino Malvina, Testa Graciela, Miras Mirta Beatriz, Masini-Repiso Ana María, Calcaterra Nora Beatriz, Coux Gabriela, Carrasco Nancy, Martí Marcelo Adrián, Nicola Juan Pablo

Abstract excerpt

CONTEXT: Iodide transport defect (ITD) (Online Mendelian Inheritance in Man No. 274400) is an uncommon cause of dyshormonogenic congenital hypothyroidism due to loss-of-function variants in the SLC5A5 gene, which encodes the sodium/iodide symporter (NIS), causing deficient iodide accumulation in thyroid follicular cells. OBJECTIVE: This work aims to determine the molecular basis of a patient's ITD clinical...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33912899
DOI: 10.1210/clinem/dgab283
PMCID: PMC8208674

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