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Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration 通过基因组、表型、功能、结构和深度学习的整合，将甲状腺激素转运蛋白MCT8的变异与疾病严重程度进行映射。 Groeneweg, Stefan; van Geest, Ferdy S.; Martin, Mariano; Dias, Mafalda; Frazer, Jonathan; Sterenborg, Rosalie B. T. M.; Wang, Hao; Dolcetta-Capuzzo, Anna; de Rooij, Linda J.; Abaci, Ayhan; van den Akker, Erica L. T.; Ambegaonkar, Gautam P.; Armour, Christine M.; Bacos, Iiuliu; Bakhtiani, Priyanka; Barca, Diana; Bauer, Andrew J.; van den Berg, Sjoerd A. A.; van den Berge, Amanda; Bertini, Enrico; van Beynum, Ingrid M.; Brunetti-Pierri, Nicola; Brunner, Doris; Cappa, Marco; Cappuccio, Gerarda; Castellotti, Barbara; Castiglioni, Claudia; Chatterjee, Krishna; Chesover, Alexander; Christian, Peter; van der Spek, Jet; de Coo, Irenaeus F. M.; Coutant, Regis; Craiu, Dana; Crock, Patricia; Degoede, Christian; Demir, Korcan; Dewey, Cheyenne; Dica, Alice; Dimitri, Paul; Dremmen, Marjolein H. G.; Dubey, Rachana; Enderli, Anina; Fairchild, Jan; Gallichan, Jonathan; Garibaldi, Luigi; George, Belinda; Gevers, Evelien F.; Greenup, Erin; Hackenberg, Annette; Halasz, Zita; Heinrich, Bianka; Hurst, Anna C.; Huynh, Tony; Isaza, Amber R.; Klosowska, Anna; van der Knoop, Marieke M.; Konrad, Daniel; Koolen, David A.; Krude, Heiko; Kulkarni, Abhishek; Laemmle, Alexander; Lafranchi, Stephen H.; Lawson-Yuen, Amy; Lebl, Jan; Leeuwenburgh, Selmar; Linder-Lucht, Michaela; Lopez Marti, Anna; Lorea, Claudia F.; Lourenco, Charles M.; Lunsing, Roelineke J.; Lyons, Greta; Malikova, Jana Krenek; Mancilla, Edna E.; Mccormick, Kenneth L.; Mcgowan, Anne; Mericq, Veronica; Lora, Felipe Monti; Muller, Katalin E.; Nicol, Lindsey E.; Oliver-Petit, Isabelle; Paone, Laura; Paul, Praveen G.; Polak, Michel; Porta, Francesco; Poswar, Fabiano O.; Reinauer, Christina; Rozenkova, Klara; Seckold, Rowen; Seven Menevse, Tuba; Simm, Peter; Simon, Anna; Singh, Yogen; Spada, Marco; Stals, Milou A. M.; Stegenga, Merel T.; Stoupa, Athanasia; Subramanian, Gopinath M.; Szeifert, Lilla; Tonduti, Davide; Turan, Serap; Vanderniet, Joel; van der Walt, Adri; Wemeau, Jean-Louis; van Wermeskerken, Anne-Marie; Wierzba, Jolanta; de Wit, Marie-Claire Y.; Wolf, Nicole I.; Wurm, Michael; Zibordi, Federica; Zung, Amnon; Zwaveling-Soonawala, Nitash; Rivadeneira, Fernando; Meima, Marcel E.; Marks, Debora S.; Nicola, Juan P.; Chen, Chi-Hua; Medici, Marco 分享 收藏
Functional characterization of novel compound heterozygous missense SLC5A5 gene variants causing congenital dyshormonogenic hypothyroidism Carro, Gerardo Hernan; Martin, Mariano; Savy, Sofia; Peyret, Victoria; Geysels, Romina Celeste; Montes, Francisco Andres; Barquero, Carlos Eduardo Bernal; Ricci, Valentina; Masnata, Maria Eugenia; Masini-Repiso, Ana Maria; Papendieck, Patricia; Tellechea, Mariana Lorena; Chiesa, Ana Elena; Nicola, Juan Pablo 分享 收藏
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The PDZ protein SCRIB regulates sodium/iodide symporter (NIS) expression at the basolateral plasma membrane Martin, Mariano; Salleron, Lisa; Peyret, Victoria; Geysels, Romina Celeste; Darrouzet, Elisabeth; Lindenthal, Sabine; Bernal Barquero, Carlos Eduardo; Masini-Repiso, Ana Maria; Pourcher, Thierry; Nicola, Juan Pablo 分享 收藏
A Novel SLC5A5 Variant Reveals the Crucial Role of Kinesin Light Chain 2 in Thyroid Hormonogenesis Martin, Mariano; Pablo Modenutti, Carlos; Gil Rosas, Mauco Lucas; Peyret, Victoria; Celeste Geysels, Romina; Bernal Barquero, Carlos Eduardo; Sobrero, Gabriela; Munoz, Liliana; Signorino, Malvina; Testa, Graciela; Beatriz Miras, Mirta; Maria Masini-Repiso, Ana; Beatriz Calcaterra, Nora; Coux, Gabriela; Carrasco, Nancy; Adrian Marti, Marcelo; Pablo Nicola, Juan 分享 收藏
The Transcription Factor NF-κB Mediates Thyrotropin-Stimulated Expression of Thyroid Differentiation Markers Geysels, Romina Celeste; Peyret, Victoria; Martin, Mariano; Nazar, Magali; Reale, Carla; Barquero, Carlos Eduardo Bernal; Miranda, Lucas; Marti, Marcelo Adrian; Vito, Pasquale; Masini-Repiso, Ana Maria; Nicola, Juan Pablo 分享 收藏
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A Carboxy-Terminal Monoleucine-Based Motif Participates in the Basolateral Targeting of the Na+/I- Symporter Martin, Mariano; Pablo Modenutti, Carlos; Peyret, Victoria; Geysels, Romina Celeste; Darrouzet, Elisabeth; Pourcher, Thierry; Maria Masini-Repiso, Ana; Adrian Marti, Marcelo; Carrasco, Nancy; Pablo Nicola, Juan 分享 收藏
Functional Toll-like Receptor 4 Overexpression in Papillary Thyroid Cancer by MAPK/ERK-Induced ETS1 Transcriptional Activity Peyret, Victoria; Nazar, Magali; Martin, Mariano; Quintar, Amado A.; Fernandez, Elmer A.; Geysels, Romina C.; Fuziwara, Cesar S.; Montesinos, Maria M.; Maldonado, Cristina A.; Santisteban, Pilar; Kimura, Edna T.; Pellizas, Claudia G.; Nicola, Juan P.; Masini-Repiso, Ana M. 分享 收藏
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