Novel Sodium/Iodide Symporter Compound Heterozygous Pathogenic Variants Causing Dyshormonogenic Congenital Hypothyroidism-Reference-Cited by-同舟云学术

Novel Sodium/Iodide Symporter Compound Heterozygous Pathogenic Variants Causing Dyshormonogenic Congenital Hypothyroidism

Published:2019-07 Issue:7 Volume:29 Page:1023-1026
ISSN:1050-7256
Container-title:Thyroid
language:en
Short-container-title:Thyroid

Author:

Martín Mariano¹²,Bernal Barquero Carlos Eduardo¹²,Geysels Romina Celeste¹²,Papendieck Patricia³⁴,Peyret Victoria¹²,Masini-Repiso Ana María¹²,Chiesa Ana Elena³⁴,Nicola Juan Pablo¹²

Affiliation:

1. Centro de Investigaciones en Bioquímica Clínica e Inmunología–Consejo Nacional de Investigaciones Científicas y Técnicas, Córdoba, Argentina.

2. Departamento de Bioquímica Clínica, Facultad de Ciencias Químicas, Universidad Nacional de Córdoba, Córdoba, Argentina.

3. Centro de Investigaciones Endocrinológicas Dr. César Bergadá–Consejo Nacional de Investigaciones Científicas y Técnicas, Buenos Aires, Argentina.

4. División de Endocrinología, Hospital de Niños Dr. Ricardo Gutiérrez, Buenos Aires, Argentina.

Publisher

Mary Ann Liebert Inc

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

https://www.liebertpub.com/doi/pdf/10.1089/thy.2019.0046

Reference8 articles.

1. A Novel Missense Mutation in the SLC5A5 Gene in a Sudanese Family with Congenital Hypothyroidism

2. Na+ coordination at the Na2 site of the Na+/I− symporter

3. Implications of Na+/I- Symporter Transport to the Plasma Membrane for Thyroid Hormonogenesis and Radioiodide Therapy

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

5. A Carboxy-Terminal Monoleucine-Based Motif Participates in the Basolateral Targeting of the Na+/I− Symporter

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