未登录 Extreme resistance to thyroid hormone caused by a novel mosaic thyroid hormone receptor beta mutation van Geest, F.S.; Liao, W.; Voorhoeve, P.G.; Leen, W.G.; Zwaveling-Soonawala, N.; Chatterjee, V.K.; Van den Berg, S.A.A.; Verburg, F.A.; Meima, M.E.; van den Akker, E.L.T.; et al. 由一种新型嵌合甲状腺激素受体β突变引起的甲状腺激素抵抗极端抗性。Eur. Thyroid. J. 2025, 14, e250092. [Google Scholar] [CrossRef] [PubMed] van Geest, Ferdy S.; Liao, Wenjun; Voorhoeve, Paul G.; Leen, Willemijn G.; Zwaveling-Soonawala, Nitash; Chatterjee, V. Krishna; van den Berg, Sjoerd A. A.; Verburg, Frederik A.; Meima, Marcel E.; van den Akker, Erica L. T.; Visser, W. Edward 分享 收藏
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Molecular mechanism of thyroxine transport by monocarboxylate transporters 单羧酸转运蛋白介导的甲状腺素转运的分子机制 Tassinari, Matteo; Tanzi, Giorgia; Maggiore, Francesco; Groeneweg, Stefan; van Geest, Ferdy S.; Freund, Matthijs E. T.; Stavast, Christiaan J.; Boniardi, Irene; Pasqualato, Sebastiano; Visser, W. Edward; Coscia, Francesca 分享 收藏
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
Identification of Iodotyrosines as Novel Substrates for the Thyroid Hormone Transporter MCT8 Groeneweg, Stefan; Zevenbergen, Chantal; de Souza, Elaine C. Lima; van Geest, Ferdy S.; Kloeckener-Gruissem, Barbara; Laczko, Endre; Camargo, Simone M. R.; Meima, Marcel E.; Peeters, Robin P.; Visser, W. Edward 分享 收藏
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Functional Characterization of the Novel and Specific Thyroid Hormone Transporter SLC17A4 Groeneweg, Stefan; van Geest, Ferdy S.; Chen, Zhongli; Farina, Stefania; van Heerebeek, Ramona E. A.; Meima, Marcel E.; Peeters, Robin P.; Heuer, Heike; Medici, Marco; Visser, W. Edward 分享 收藏
Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study van Geest, Ferdy S.; Groeneweg, Stefan; van den Akker, Erica L. T.; Bacos, Iuliu; Barca, Diana; van den Berg, Sjoerd A. A.; Bertini, Enrico; Brunner, Doris; Brunetti-Pierri, Nicola; Cappa, Marco; Cappuccio, Gerarda; Chatterjee, Krishna; Chesover, Alexander D.; Christian, Peter; Coutant, Regis; Craiu, Dana; Crock, Patricia; Dewey, Cheyenne; Dica, Alice; Dimitri, Paul; Dubey, Rachana; Enderli, Anina; Fairchild, Jan; Gallichan, Jonathan; Garibaldi, Luigi R.; George, Belinda; Hackenberg, Annette; Heinrich, Bianka; Huynh, Tony; Klosowska, Anna; Lawson-Yuen, Amy; Linder-Lucht, Michaela; Lyons, Greta; Lora, Felipe Monti; Moran, Carla; Muller, Katalin E.; Paone, Laura; Paul, Praveen G.; Polak, Michel; Porta, Francesco; Reinauer, Christina; de Rijke, Yolanda B.; Seckold, Rowen; Menevse, Tuba Seven; Simm, Peter; Simon, Anna; Spada, Marco; Stoupa, Athanasia; Szeifert, Lilla; Tonduti, Davide; van Toor, Hans; Turan, Serap; Vanderniet, Joel; de Waart, Monique; van der Wal, Ronald; van der Walt, Adri; Van Wermeskerken, Anne-Marie; Wierzba, Jolanta; Zibordi, Federica; Zung, Amnon; Peeters, Robin P.; Visser, W. Edward 分享 收藏
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Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case Series van Geest, Ferdy S.; Meima, Marcel E.; Stuurman, Kyra E.; Wolf, Nicole, I; van der Knaap, Marjo S.; Lorea, Claudia F.; Poswar, Fabiano O.; Vairo, Filippo; Brunetti-Pierri, Nicola; Cappuccio, Gerarda; Bakhtiani, Priyanka; de Munnik, Sonja A.; Peeters, Robin P.; Visser, W. Edward; Groeneweg, Stefan 分享 收藏
In Vitro Characterization of Human, Mouse, and Zebrafish MCT8 Orthologues Groeneweg, Stefan; Kersseboom, Simone; van den Berge, Amanda; Dolcetta-Capuzzo, Anna; van Geest, Ferdy S.; van Heerebeek, Ramona E. A.; Arjona, Francisco J.; Meima, Marcel E.; Peeters, Robin P.; Visser, W. Edward; Visser, Theo J. 分享 收藏
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