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Targeted Next-Generation Sequencing of Congenital Hypothyroidism-Causative Genes Reveals Unexpected Thyroglobulin Gene Variants in Patients with Iodide Transport Defect

International Journal of Molecular Sciences
2022-08-17 | Journal article
DOI: 10.3390/ijms23169251
Contributors: Carlos Eduardo Bernal Barquero; Romina Celeste Geysels; Virginie Jacques; Gerardo Hernán Carro; Mariano Martín; Victoria Peyret; María Celeste Abregú; Patricia Papendieck; Ana María Masini-Repiso; Frédérique Savagner et al.
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Silent but Not Harmless: A Synonymous SLC5A5 Gene Variant Leading to Dyshormonogenic Congenital Hypothyroidism

Frontiers in Endocrinology
2022-05-04 | Journal article
DOI: 10.3389/fendo.2022.868891
Part of ISSN: 1664-2392
Contributors: Carlos Eduardo Bernal Barquero
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Carlos Eduardo Bernal Barquero

An Intramolecular Ionic Interaction Linking Defective Sodium/Iodide Symporter Transport to the Plasma Membrane and Dyshormonogenic Congenital Hypothyroidism.

Thyroid : official journal of the American Thyroid Association
2021-12-24 | Journal article
DOI: 10.1089/thy.2021.0344
PMID: 34726525
Source: Self-asserted source
Carlos Eduardo Bernal Barquero

The PDZ protein SCRIB regulates sodium/iodide symporter (NIS) expression at the basolateral plasma membrane.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology
2021-08-01 | Journal article
DOI: 10.1096/fj.202100303r
PMID: 34196428
Source: Self-asserted source
Carlos Eduardo Bernal Barquero

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

The Journal of clinical endocrinology and metabolism
2021-06-01 | Journal article
DOI: 10.1210/clinem/dgab283
PMID: 33912899
Source: Self-asserted source
Carlos Eduardo Bernal Barquero

The Transcription Factor NF-κB Mediates Thyrotropin-Stimulated Expression of Thyroid Differentiation Markers.

Thyroid : official journal of the American Thyroid Association
2020-10-21 | Journal article
DOI: 10.1089/thy.2020.0208
PMID: 32935630
Source: Self-asserted source
Carlos Eduardo Bernal Barquero

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

Thyroid : official journal of the American Thyroid Association
2019-07-02 | Journal article
DOI: 10.1089/thy.2019.0046
PMID: 31115276
Source: Self-asserted source
Carlos Eduardo Bernal Barquero

Review of alterations in gene expression and apoptotic pathways caused in nephrotoxicity induced by cisplatin.

Nefrologia
2019-03-23 | Journal article
DOI: 10.1016/j.nefro.2018.11.012
PMID: 30910229
Source: Self-asserted source
Carlos Eduardo Bernal Barquero

Nephroprotective Effect of Embryonic Stem Cells Reducing Lipid Peroxidation in Kidney Injury Induced by Cisplatin.

Oxidative medicine and cellular longevity
2019-03-14 | Journal article
DOI: 10.1155/2019/5420624
PMID: 31001374
PMC: PMC6437739
Source: Self-asserted source
Carlos Eduardo Bernal Barquero

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

Journal of the Endocrine Society
2018-12-05 | Journal article
DOI: 10.1210/js.2018-00100
PMID: 30620007
PMC: PMC6316985
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Carlos Eduardo Bernal Barquero
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