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

Autor: Ana Chiesa, Patricia Papendieck, Ana María Masini-Repiso, Carlos Eduardo Bernal Barquero, Romina Celeste Geysels, Juan Pablo Nicola, Mariano Martín, Victoria Peyret

Publikováno v: Thyroid.

BACKGROUND The sodium/iodide symporter (NIS) mediates active iodide accumulation in the thyroid follicular cell. Autosomal recessive iodide transport defect (ITD)-causing loss-of-function NIS variants lead to dyshormonogenic congenital hypothyroidism

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0627ae01ac287ae453296d90ba96f9eb
https://doi.org/10.1089/thy.2021.0344

Improving safety in paediatric thyroidectomy by PTH measurements

Autor: María Gabriela Ropelato, Ignacio Bergadá, Ana Chiesa, Eugenia Elias, María Eugenia Rodríguez, Patricia Papendieck, Ana Vieites, Analia Freire, María Gabriela Ballerini

Publikováno v: Clinical endocrinologyREFERENCES. 95(5)

OBJETIVE We followed our previously reported algorithm based on intra and postoperative parathyroid hormone (PTH) levels to predict postthyroidectomy hypoparathyroid hypocalcemia. The objective of the study was to assess if this strategy is useful an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4fb195c984dc60631d30aa07106f4af9
https://pubmed.ncbi.nlm.nih.gov/34219257

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

Autor: Victoria Peyret, Patricia Papendieck, Juan Pablo Nicola, Mariano Martín, Romina Celeste Geysels, Ana Chiesa, Carlos Eduardo Bernal Barquero, Ana María Masini-Repiso

Publikováno v: Thyroid : official journal of the American Thyroid Association. 29(7)

Iodide transport defect (ITD) is an autosomal recessive disorder caused by deficient iodide accumulation into the thyroid follicular cell. ITD is an uncommon cause of dyshormonogenetic congenital hypothyroidism that results from inactivating mutation

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd22fc012e61d256e78e83cd22c45200
https://pubmed.ncbi.nlm.nih.gov/31115276

Molecular analysis of thyroglobulin mutations found in patients with goiter and hypothyroidism

Autor: Ana Chiesa, Rogelio González-Sarmiento, Héctor M. Targovnik, Patricia Papendieck, Sofia Siffo, Mirta Miras, Viviana Balbi, Elena Bueno Martinez, Verónica González, Cintia E. Citterio, Gabriela Sobrero, Jacques Weill, Ezequiela Adrover, Carina M. Rivolta

Publikováno v: Digital.CSIC. Repositorio Institucional del CSIC
instname
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Digital.CSIC: Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)

Thyroid dyshormonogenesis due to thyroglobulin (TG) gene mutations have an estimated incidence of approximately 1 in 100,000 newborns. The clinical spectrum ranges from euthyroid to mild or severe hypothyroidism. Up to now, one hundred seventeen dele

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24f3758bd41cd7f7fe05e36e4e8ccd32
http://hdl.handle.net/10261/245013

[Transient congenital hypothyroidism due to biallelic defects of DUOX2 gene. Two clinical cases]

Autor: Rosa E, Enacán, María E, Masnata, Fiorella, Belforte, Patricia, Papendieck, María C, Olcese, Sofía, Siffo, Laura, Gruñeiro-Papendieck, Héctor, Targovnik, Carina M, Rivolta, Ana E, Chiesa

Publikováno v: Archivos argentinos de pediatria. 115(3)

Congenital hypothyroidism affects 1:2000-3000 newborns detected by neonatal screening programs. Dual oxidases, DUOX1 and 2, generate hydrogen peroxide needed for the thyroid hormone synthesis. Hipotiroidismo congénito transitorio por defectos bialé

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c9f061fe01ceadde4fa8556871b2cf87
https://pubmed.ncbi.nlm.nih.gov/28504502