The role of thyroglobulin in thyroid hormonogenesis von Citterio, Cintia E., Targovnik, Héctor M., Arvan, Peter

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Iodide Handling Disorders (NIS, TPO, TG, IYD) von Targovnik, Héctor M., PhD, Citterio, Cintia E., PhD, Rivolta, Carina M., PhD

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Targeted Next-Generation Sequencing of Congenital Hypothyroidism-Causative Genes Reveals Unexpected Thyroglobulin Gene Variants in Patients with Iodide Transport Defect von Bernal Barquero, Carlos Eduardo, Geysels, Romina Celeste, Jacques, Virginie, Carro, Gerardo Hernán, Martín, Mariano, Peyret, Victoria, Abregú, María Celeste, Papendieck, Patricia, Masini-Repiso, Ana María, Savagner, Frédérique, Chiesa, Ana Elena, Citterio, Cintia E, Nicola, Juan Pablo

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Thyroid hormone synthesis continues despite biallelic thyroglobulin mutation with cell death von Zhang, Xiaohan, Kellogg, Aaron P., Citterio, Cintia E., Zhang, Hao, Larkin, Dennis, Morishita, Yoshiaki, Targovnik, Hector M., Balbi, Viviana A., Arvan, Peter

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Thyroglobulin Gene Mutations in Congenital Hypothyroidism von Targovnik, Héctor M., Citterio, Cintia E., Rivolta, Carina M.

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Structural features of thyroglobulin linked to protein trafficking von Citterio, Cintia E., Kim, Kookjoo, Rajesh, Bhavana, Pena, Kevin, Clarke, Oliver Biggs, Arvan, Peter

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Relationship between the dimerization of thyroglobulin and its ability to form triiodothyronine von Citterio, Cintia E., Morishita, Yoshiaki, Dakka, Nada, Veluswamy, Balaji, Arvan, Peter

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Structure and genetic variants of thyroglobulin: Pathophysiological implications von Citterio, Cintia E., Rivolta, Carina M., Targovnik, Héctor M.

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De novo triiodothyronine formation from thyrocytes activated by thyroid-stimulating hormone von Citterio, Cintia E., Veluswamy, Balaji, Morgan, Sarah J., Galton, Valerie A., Banga, J. Paul, Atkins, Stephen, Morishita, Yoshiaki, Neumann, Susanne, Latif, Rauf, Gershengorn, Marvin C., Smith, Terry J., Arvan, Peter

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Molecular analysis of thyroglobulin mutations found in patients with goiter and hypothyroidism von Siffo, Sofia, Adrover, Ezequiela, Citterio, Cintia E., Miras, Mirta B., Balbi, Viviana A., Chiesa, Ana, Weill, Jacques, Sobrero, Gabriela, González, Verónica G., Papendieck, Patricia, Martinez, Elena Bueno, Gonzalez-Sarmiento, Rogelio, Rivolta, Carina M., Targovnik, Héctor M.

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p.L571P in the linker domain of rat thyroglobulin causes intracellular retention von Citterio, Cintia E., Siffo, Sofia, Moya, Christian M., Pio, Mauricio Gomes, Molina, Maricel F., Scheps, Karen G., Rey, Osvaldo A., Arvan, Peter, Rivolta, Carina M., Targovnik, Héctor M.

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Novel compound heterozygous Thyroglobulin mutations c.745+1G>A/c.7036+2T>A associated with congenital goiter and hypothyroidism in a Vietnamese family. Identification of a new cryp... von Citterio, Cintia E., Morales, Cecilia M., Bouhours-Nouet, Natacha, Machiavelli, Gloria A., Bueno, Elena, Gatelais, Frédérique, Coutant, Regis, González-Sarmiento, Rogelio, Rivolta, Carina M., Targovnik, Héctor M.

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Compound heterozygous DUOX2 gene mutations (c.2335-1G>C/c.3264_3267delCAGC) associated with congenital hypothyroidism. Characterization of complex cryptic splice sites by minigene... von Belforte, Fiorella S., Citterio, Cintia E., Testa, Graciela, Olcese, María Cecilia, Sobrero, Gabriela, Miras, Mirta B., Targovnik, Héctor M., Rivolta, Carina M.

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Kinetic characterization of human thyroperoxidase. Normal and pathological enzyme expression in Baculovirus System: A molecular model of functional expression von Belforte, Fiorella S., Targovnik, Alexandra M., González-Lebrero, Rodolfo M., Osorio Larroche, Carolina, Citterio, Cintia E., González-Sarmiento, Rogelio, Miranda, María V., Targovnik, Héctor M., Rivolta, Carina M.

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New insights into thyroglobulin gene: Molecular analysis of seven novel mutations associated with goiter and hypothyroidism von Citterio, Cintia E., Machiavelli, Gloria A., Miras, Mirta B., Gruñeiro-Papendieck, Laura, Lachlan, Katherine, Sobrero, Gabriela, Chiesa, Ana, Walker, Joanna, Muñoz, Liliana, Testa, Graciela, Belforte, Fiorella S., González-Sarmiento, Rogelio, Rivolta, Carina M., Targovnik, Héctor M.

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Two novel mutations in the thyroglobulin gene as cause of congenital hypothyroidism: Identification a cryptic donor splice site in the exon 19 von Targovnik, Héctor M., Edouard, Thomas, Varela, Viviana, Tauber, Maithé, Citterio, Cintia E., González-Sarmiento, Rogelio, Rivolta, Carina M.

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Novel mutational mechanism in the thyroglobulin gene: Imperfect DNA inversion as a cause for hereditary hypothyroidism von Citterio, Cintia E., Rossetti, Liliana C., Souchon, Pierre F., Morales, Cecilia, Thouvard-Viprey, Mathilde, Salmon-Musial, Anne S., Mauran, Pierre L.A., Doco-Fenzy, Martine, González-Sarmiento, Rogelio, Rivolta, Carina M., De Brasi, Carlos D., Targovnik, Héctor M.

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A new compound heterozygous for c.886C>T/c.2206C>T [p.R277X/p.Q717X] mutations in the thyroglobulin gene as a cause of foetal goitrous hypothyroidism von Citterio, Cintia E., Coutant, Regis, Rouleau, Stephanie, Miralles García, José M., Gonzalez-Sarmiento, Rogelio, Rivolta, Carina M., Targovnik, Héctor M.

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GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer von Zhou, Wei, Brumpton, Ben, Kabil, Omer, Gudmundsson, Julius, Thorleifsson, Gudmar, Weinstock, Josh, Zawistowski, Matthew, Nielsen, Jonas B., Chaker, Layal, Medici, Marco, Teumer, Alexander, Naitza, Silvia, Sanna, Serena, Schultheiss, Ulla T., Cappola, Anne, Karjalainen, Juha, Kurki, Mitja, Oneka, Morgan, Taylor, Peter, Fritsche, Lars G., Graham, Sarah E., Wolford, Brooke N., Overton, William, Rasheed, Humaira, Haug, Eirin B., Gabrielsen, Maiken E., Skogholt, Anne Heidi, Surakka, Ida, Davey Smith, George, Pandit, Anita, Roychowdhury, Tanmoy, Hornsby, Whitney E., Jonasson, Jon G., Senter, Leigha, Liyanarachchi, Sandya, Ringel, Matthew D., Xu, Li, Kiemeney, Lambertus A., He, Huiling, Netea-Maier, Romana T., Mayordomo, Jose I., Plantinga, Theo S., Hrafnkelsson, Jon, Hjartarson, Hannes, Sturgis, Erich M., Palotie, Aarno, Daly, Mark, Citterio, Cintia E., Arvan, Peter, Brummett, Chad M., Boehnke, Michael, de la Chapelle, Albert, Stefansson, Kari, Hveem, Kristian, Willer, Cristen J., Åsvold, Bjørn Olav

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OR14-01 Contact Between Thyroglobulin Opposite Domains Assists Its Upstream Regions In Intracellular Trafficking For Thyroid Hormonogenesis von Citterio, Cintia E, Kim, Kookjoo, Rajesh, Bhavana, Pena, Kevin, Clarke, Oliver B, Arvan, Peter

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