Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration

BibTeX

@article{allodium:10.1038/s41467-025-56628-w,
  title = {Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration},
  author = {Stefan Groeneweg and Ferdy S. van Geest and Mariano Martín and Mafalda Dias and Jonathan Frazer and Carolina Medina-Gomez and Rosalie B. T. M. Sterenborg and Hao Wang and Anna Dolcetta-Capuzzo and Linda J. de Rooij and Alexander Teumer and Ayhan Abaci and Erica L. T. van den Akker and Gautam P. Ambegaonkar and Christine M. Armour and Iiuliu Bacos and Priyanka Bakhtiani and Diana Barca and Andrew J. Bauer and Sjoerd A. A. van den Berg and Amanda van den Berge and Enrico Bertini and Ingrid M. van Beynum and Nicola Brunetti-Pierri and Doris Brunner and Marco Cappa and Gerarda Cappuccio and Barbara Castellotti and Claudia Castiglioni and Krishna Chatterjee and Alexander Chesover and Peter Christian and Jet Coenen-van der Spek and Irenaeus F. M. de Coo and Regis Coutant and Dana Craiu and Patricia Crock and Christian DeGoede and Korcan Demir and Cheyenne Dewey and Alice Dica and Paul Dimitri and Marjolein H. G. Dremmen and Rachana Dubey and Anina Enderli and Jan Fairchild and Jonathan Gallichan and Luigi Garibaldi and Belinda George and Evelien F. Gevers and Erin Greenup and Annette Hackenberg and Zita Halász and Bianka Heinrich and Anna C. Hurst and Tony Huynh and Amber R. Isaza and Anna Klosowska and Marieke M. van der Knoop and Daniel Konrad and David A. Koolen and Heiko Krude and Abhishek Kulkarni and Alexander Laemmle and Stephen H. LaFranchi and Amy Lawson-Yuen and Jan Lebl and Selmar Leeuwenburgh and Michaela Linder-Lucht and Anna López Martí and Cláudia F. Lorea and Charles M. Lourenço and Roelineke J. Lunsing and Greta Lyons and Jana Krenek Malikova and Edna E. Mancilla and Kenneth L. McCormick and Anne McGowan and Veronica Mericq and Felipe Monti Lora and Carla Moran and Katalin E. Muller and Lindsey E. Nicol and Isabelle Oliver-Petit and Laura Paone and Praveen G. Paul and Michel Polak and Francesco Porta and Fabiano O. Poswar and Christina Reinauer and Klara Rozenkova and Rowen Seckold and Tuba Seven Menevse and Peter Simm and Anna Simon and Yogen Singh and Marco Spada and Milou A. M. Stals and Merel T. Stegenga and Athanasia Stoupa and Gopinath M. Subramanian and Lilla Szeifert and Davide Tonduti and Serap Turan and Joel Vanderniet and Adri van der Walt and Jean-Louis Wémeau and Anne-Marie van Wermeskerken and Jolanta Wierzba and Marie-Claire Y. de Wit and Nicole I. Wolf and Michael Wurm and Federica Zibordi and Amnon Zung and Nitash Zwaveling-Soonawala and Fernando Rivadeneira and Marcel E. Meima and Debora S. Marks and Juan P. Nicola and Chi-Hua Chen and Marco Medici and W. Edward Visser},
  year = {2025},
  journal = {Nature Communications},
  doi = {10.1038/s41467-025-56628-w},
  url = {https://doi.org/10.1038/s41467-025-56628-w}
}

RIS

TY  - JOUR
TI  - Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration
AU  - Stefan Groeneweg
AU  - Ferdy S. van Geest
AU  - Mariano Martín
AU  - Mafalda Dias
AU  - Jonathan Frazer
AU  - Carolina Medina-Gomez
AU  - Rosalie B. T. M. Sterenborg
AU  - Hao Wang
AU  - Anna Dolcetta-Capuzzo
AU  - Linda J. de Rooij
AU  - Alexander Teumer
AU  - Ayhan Abaci
AU  - Erica L. T. van den Akker
AU  - Gautam P. Ambegaonkar
AU  - Christine M. Armour
AU  - Iiuliu Bacos
AU  - Priyanka Bakhtiani
AU  - Diana Barca
AU  - Andrew J. Bauer
AU  - Sjoerd A. A. van den Berg
AU  - Amanda van den Berge
AU  - Enrico Bertini
AU  - Ingrid M. van Beynum
AU  - Nicola Brunetti-Pierri
AU  - Doris Brunner
AU  - Marco Cappa
AU  - Gerarda Cappuccio
AU  - Barbara Castellotti
AU  - Claudia Castiglioni
AU  - Krishna Chatterjee
AU  - Alexander Chesover
AU  - Peter Christian
AU  - Jet Coenen-van der Spek
AU  - Irenaeus F. M. de Coo
AU  - Regis Coutant
AU  - Dana Craiu
AU  - Patricia Crock
AU  - Christian DeGoede
AU  - Korcan Demir
AU  - Cheyenne Dewey
AU  - Alice Dica
AU  - Paul Dimitri
AU  - Marjolein H. G. Dremmen
AU  - Rachana Dubey
AU  - Anina Enderli
AU  - Jan Fairchild
AU  - Jonathan Gallichan
AU  - Luigi Garibaldi
AU  - Belinda George
AU  - Evelien F. Gevers
AU  - Erin Greenup
AU  - Annette Hackenberg
AU  - Zita Halász
AU  - Bianka Heinrich
AU  - Anna C. Hurst
AU  - Tony Huynh
AU  - Amber R. Isaza
AU  - Anna Klosowska
AU  - Marieke M. van der Knoop
AU  - Daniel Konrad
AU  - David A. Koolen
AU  - Heiko Krude
AU  - Abhishek Kulkarni
AU  - Alexander Laemmle
AU  - Stephen H. LaFranchi
AU  - Amy Lawson-Yuen
AU  - Jan Lebl
AU  - Selmar Leeuwenburgh
AU  - Michaela Linder-Lucht
AU  - Anna López Martí
AU  - Cláudia F. Lorea
AU  - Charles M. Lourenço
AU  - Roelineke J. Lunsing
AU  - Greta Lyons
AU  - Jana Krenek Malikova
AU  - Edna E. Mancilla
AU  - Kenneth L. McCormick
AU  - Anne McGowan
AU  - Veronica Mericq
AU  - Felipe Monti Lora
AU  - Carla Moran
AU  - Katalin E. Muller
AU  - Lindsey E. Nicol
AU  - Isabelle Oliver-Petit
AU  - Laura Paone
AU  - Praveen G. Paul
AU  - Michel Polak
AU  - Francesco Porta
AU  - Fabiano O. Poswar
AU  - Christina Reinauer
AU  - Klara Rozenkova
AU  - Rowen Seckold
AU  - Tuba Seven Menevse
AU  - Peter Simm
AU  - Anna Simon
AU  - Yogen Singh
AU  - Marco Spada
AU  - Milou A. M. Stals
AU  - Merel T. Stegenga
AU  - Athanasia Stoupa
AU  - Gopinath M. Subramanian
AU  - Lilla Szeifert
AU  - Davide Tonduti
AU  - Serap Turan
AU  - Joel Vanderniet
AU  - Adri van der Walt
AU  - Jean-Louis Wémeau
AU  - Anne-Marie van Wermeskerken
AU  - Jolanta Wierzba
AU  - Marie-Claire Y. de Wit
AU  - Nicole I. Wolf
AU  - Michael Wurm
AU  - Federica Zibordi
AU  - Amnon Zung
AU  - Nitash Zwaveling-Soonawala
AU  - Fernando Rivadeneira
AU  - Marcel E. Meima
AU  - Debora S. Marks
AU  - Juan P. Nicola
AU  - Chi-Hua Chen
AU  - Marco Medici
AU  - W. Edward Visser
PY  - 2025
JO  - Nature Communications
DO  - 10.1038/s41467-025-56628-w
UR  - https://doi.org/10.1038/s41467-025-56628-w
ER  - 

APA

Groeneweg, S., Geest, F. S. V., Martín, M., Dias, M., Frazer, J., Medina-Gomez, C., Sterenborg, R. B. T. M., Wang, H., Dolcetta-Capuzzo, A., Rooij, L. J. D., Teumer, A., Abaci, A., Akker, E. L. T. V. D., Ambegaonkar, G. P., Armour, C. M., Bacos, I., Bakhtiani, P., Barca, D., Bauer, A. J., Berg, S. A. A. V. D., Berge, A. V. D., Bertini, E., Beynum, I. M. V., Brunetti-Pierri, N., Brunner, D., Cappa, M., Cappuccio, G., Castellotti, B., Castiglioni, C., Chatterjee, K., Chesover, A., Christian, P., Spek, J. C. D., Coo, I. F. M. D., Coutant, R., Craiu, D., Crock, P., DeGoede, C., Demir, K., Dewey, C., Dica, A., Dimitri, P., Dremmen, M. H. G., Dubey, R., Enderli, A., Fairchild, J., Gallichan, J., Garibaldi, L., George, B., Gevers, E. F., Greenup, E., Hackenberg, A., Halász, Z., Heinrich, B., Hurst, A. C., Huynh, T., Isaza, A. R., Klosowska, A., Knoop, M. M. V. D., Konrad, D., Koolen, D. A., Krude, H., Kulkarni, A., Laemmle, A., LaFranchi, S. H., Lawson-Yuen, A., Lebl, J., Leeuwenburgh, S., Linder-Lucht, M., Martí, A. L., Lorea, C. F., Lourenço, C. M., Lunsing, R. J., Lyons, G., Malikova, J. K., Mancilla, E. E., McCormick, K. L., McGowan, A., Mericq, V., Lora, F. M., Moran, C., Muller, K. E., Nicol, L. E., Oliver-Petit, I., Paone, L., Paul, P. G., Polak, M., Porta, F., Poswar, F. O., Reinauer, C., Rozenkova, K., Seckold, R., Menevse, T. S., Simm, P., Simon, A., Singh, Y., Spada, M., Stals, M. A. M., Stegenga, M. T., Stoupa, A., Subramanian, G. M., Szeifert, L., Tonduti, D., Turan, S., Vanderniet, J., Walt, A. V. D., Wémeau, J., Wermeskerken, A. V., Wierzba, J., Wit, M. Y. D., Wolf, N. I., Wurm, M., Zibordi, F., Zung, A., Zwaveling-Soonawala, N., Rivadeneira, F., Meima, M. E., Marks, D. S., Nicola, J. P., Chen, C., Medici, M., & Visser, W. E. (2025). Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration. Nature Communications. https://doi.org/10.1038/s41467-025-56628-w