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Monoallelic thyroid peroxidase gene mutation in a patient with congenital hypothyroidism with total iodide organification defectMutação monoalélica no gene da tireoperoxidase em paciente com hipotireoidismo congênito com defeito total de incorporação de iodeto
(Sociedade Brasileira de Endocrinologia e Metabologia, 2010-11)
The aim of this study was to identify the genetic defect of a patient with dyshormonogenetic congenital hypothyroidisms (CH) with total iodide organification defect (TIOD). A male child diagnosed with CH during neonatal ...
Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect
(Veterinary and Human Toxicology, 2003-12)
Thyroid peroxidase (TPO) defects, typically transmitted as autosomal recessive traits, result in hypothyroid goiters with failure to convert iodide into organic iodine. We analyzed the TPO gene in 14 unrelated patients ...
Kinetic characterization of human thyroperoxidase. Normal and pathological enzyme expression in Baculovirus System: A molecular model of functional expression
(Elsevier Ireland, 2015-03)
BACKGROUND: Human thyroperoxidase (hTPO) is a membrane-bound glycoprotein located at the apical membrane of the thyroid follicular cells which catalyzes iodide oxidation and organification in the thyroglobulin (TG) tyrosine ...
Monoallelic thyroid peroxidase gene mutation in a patient with congenital hypothyroidism with total iodide organification defect
(Sociedade Brasileira de Endocrinologia e Metabologia, 2010)
The aim of this study was to identify the genetic defect of a patient with dyshormonogenetic congenital hypothyroidisms (CH) with total iodide organification defect (TIOD). A male child diagnosed with CH during neonatal ...
Three mutations (p.Q36H, p.G418fsX482, and g.IVS19-2A>C) in the dual oxidase 2 gene responsible for congenital goiter and iodide organification defect
(Oxford University Press, 2006-02)
Background: Iodide organisation defects are associated with mutations in the dual oxidase 2 (DUOX2) gene and are characterized by a positive perchlorate discharge test. These mutations produce a congenital goitrous ...
A novel mutation in the TPO gene in goitrous hypothyroid patients with iodide organification defect
(Blackwell Science LtdOxfordInglaterra, 1999)
Differential gene expression analysis of iodide-treated rat thyroid follicular cell line PCCl3
(ACADEMIC PRESS INC ELSEVIER SCIENCE, 2008)
The inhibitory effect of supraphysiological iodide concentrations on thyroid hormone synthesis (Wolff - Chaikoff effect) and on thyrocyte proliferation is largely known as iodine autoregulation. However, the molecular ...
Estudio morfo-funcional del transporte de yodo en cultivos tridimensionales de acini de la glándula parótida de ratón
(2011)
El transporte del yoduro en la glándula tiroides involucra su captación en la membrana basal de los tirocitos por medio de la proteína cotransportadora sodio/yoduro (NIS, Natrium-Iodide Symporter), y en la región apical ...
Monoallelic thyroid peroxidase gene mutation in a patient with congenital hypothyroidism with total iodide organification defect
(Sociedade Brasileira de Endocrinologia e Metabologia, 2010-11-01)
The aim of this study was to identify the genetic defect of a patient with dyshormonogenetic congenital hypothyroidisms (CH) with total iodide organification defect (TIOD). A male child diagnosed with CH during neonatal ...