日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

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、结构和深度学习整合,将甲状腺激素转运蛋白MCT8的变异与疾病严重程度联系起来。

Groeneweg, Stefan; van Geest, Ferdy S; Martín, Mariano; Dias, Mafalda; Frazer, Jonathan; Medina-Gomez, Carolina; Sterenborg, Rosalie B T M; Wang, Hao; Dolcetta-Capuzzo, Anna; de Rooij, Linda J; Teumer, Alexander; 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; Coenen-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; Halász, 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; López Martí, Anna; Lorea, Cláudia F; Lourenço, Charles M; Lunsing, Roelineke J; Lyons, Greta; Malikova, Jana Krenek; Mancilla, Edna E; McCormick, Kenneth L; McGowan, Anne; Mericq, Veronica; Lora, Felipe Monti; Moran, Carla; 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; Wémeau, 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; Visser, W Edward

Molecular mechanism of thyroxine transport by monocarboxylate transporters.

单羧酸转运蛋白运输甲状腺素的分子机制

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

MCT8 Deficiency in Females

女性MCT8缺乏症

Groeneweg, Stefan; van Geest, Ferdy S; van der Most, Floor; Abela, Lucia; Alfieri, Paolo; Bauer, Andrew J; Bertini, Enrico; Cappa, Marco; Çelik, Nurullah; de Coo, Irenaeus F M; Dolcetta-Capuzzo, Anna; Dubinski, Ilja; Granadillo, Jorge L; Hoefsloot, Lies H; Kalscheuer, Vera M; van der Knoop, Marieke M; Krude, Heiko; McNerney, Kyle P; Paone, Laura; Peeters, Robin P; Peters, Catherine; Schuelke, Markus; Schweizer, Ulrich; Sprague, Jennifer E; van Trotsenburg, A S Paul; Wilpert, Nina-Maria; Zanni, Ginevra; van Zutven, Laura J C M; Visser, W Edward

Extreme resistance to thyroid hormone caused by a novel mosaic thyroid hormone receptor beta mutation

由一种新型嵌合型甲状腺激素受体β突变引起的对甲状腺激素的极度抵抗

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

Parent Perspectives on Complex Needs in Patients With MCT8 Deficiency: An International, Prospective, Registry Study

家长对MCT8缺乏症患者复杂需求的看法:一项国际前瞻性注册研究

van Geest, Ferdy S; Groeneweg, Stefan; Popa, Veronica M; Stals, Milou A M; Visser, W Edward

Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study

T3类似物Triac治疗MCT8缺乏症儿童和成人的长期疗效:一项真实世界回顾性队列研究

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, Régis; 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; Kłosowska, Anna; Lawson-Yuen, Amy; Linder-Lucht, Michaela; Lyons, Greta; Monti Lora, Felipe; Moran, Carla; Müller, Katalin E; Paone, Laura; Paul, Praveen G; Polak, Michel; Porta, Francesco; Reinauer, Christina; de Rijke, Yolanda B; Seckold, Rowen; Menevşe, 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

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

MCT8 缺乏症的疾病特征:一项国际性、回顾性、多中心队列研究

Groeneweg, Stefan; van Geest, Ferdy S; Abacı, Ayhan; Alcantud, Alberto; Ambegaonkar, Gautem P; Armour, Christine M; Bakhtiani, Priyanka; Barca, Diana; Bertini, Enrico S; van Beynum, Ingrid M; Brunetti-Pierri, Nicola; Bugiani, Marianna; Cappa, Marco; Cappuccio, Gerarda; Castellotti, Barbara; Castiglioni, Claudia; Chatterjee, Krishna; de Coo, Irenaeus F M; Coutant, Régis; Craiu, Dana; Crock, Patricia; DeGoede, Christian; Demir, Korcan; Dica, Alice; Dimitri, Paul; Dolcetta-Capuzzo, Anna; Dremmen, Marjolein H G; Dubey, Rachana; Enderli, Anina; Fairchild, Jan; Gallichan, Jonathan; George, Belinda; Gevers, Evelien F; Hackenberg, Annette; Halász, Zita; Heinrich, Bianka; Huynh, Tony; Kłosowska, Anna; van der Knaap, Marjo S; van der Knoop, Marieke M; Konrad, Daniel; Koolen, David A; Krude, Heiko; Lawson-Yuen, Amy; Lebl, Jan; Linder-Lucht, Michaela; Lorea, Cláudia F; Lourenço, Charles M; Lunsing, Roelineke J; Lyons, Greta; Malikova, Jana; Mancilla, Edna E; McGowan, Anne; Mericq, Veronica; Lora, Felipe M; Moran, Carla; Müller, Katalin E; Oliver-Petit, Isabelle; Paone, Laura; Paul, Praveen G; Polak, Michel; Porta, Francesco; Poswar, Fabiano O; Reinauer, Christina; Rozenkova, Klara; Menevse, Tuba S; Simm, Peter; Simon, Anna; Singh, Yogen; Spada, Marco; van der Spek, Jet; Stals, Milou A M; Stoupa, Athanasia; Subramanian, Gopinath M; Tonduti, Davide; Turan, Serap; den Uil, Corstiaan A; Vanderniet, Joel; van der Walt, Adri; Wémeau, Jean-Louis; Wierzba, Jolante; de Wit, Marie-Claire Y; Wolf, Nicole I; Wurm, Michael; Zibordi, Federica; Zung, Amnon; Zwaveling-Soonawala, Nitash; Visser, W Edward

OR01-05 Long-Term Efficacy of T3 Analogue Triac in MCT8 Deficiency

OR01-05 T3 类似物 Triac 治疗 MCT8 缺乏症的长期疗效

Yau, Thomas; Galle, Peter R; Decaens, Thomas; Sangro, Bruno; Qin, Shukui; da Fonseca, Leonardo G; Karachiwala, Hatim; Blanc, Jean-Frederic; Park, Joong-Won; Gane, Edward; Pinter, Matthias; Matilla Peña, Ana; Ikeda, Masafumi; Tai, David; Santoro, Armando; Pizarro, Gonzalo; Chiu, Chang-Fang; Schenker, Michael; He, Aiwu; Chon, Hong Jae; Wojcik-Tomaszewska, Joanna; Verset, Gontran; Wang, Qi Qi; Stromko, Caitlyn; Neely, Jaclyn; Singh, Prianka; Jimenez Exposito, Maria Jesus; Kudo, Masatoshi; Agarwal, Ruchi; Goud, Jaya; Zugman, Miguel; Castro, Daniela; Li, Xiaochen; Shah, Koral; Lau, Lily; Lee, Aaron; Jaime-Casas, Salvador; Ebrahimi, Hedyeh; Regalado-Porras, Gabriela; Choi, Sharon; Sobrevilla-Moreno, Nora; Ruiz-Garcia, Erika; Kooner, Shivanee; Reid, Skylar; Chaudhary, Nasr; McKay, Rana; Pal, Sumanta; Barragan-Carrillo, Regina; van Geest, Ferdy S; Groeneweg, Stefan; van Toor, Hans; van der Wal, Ronald; de Waart, Monique; van den Berg, Sjoerd Adrianus Antonius; Peeters, Robin Patrick; Visser, W Edward