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

Journal: Nature communications

Publication Year: 2025

Authors & Co-authors:  Groeneweg Stefan S van Geest Ferdy S FS Martín Mariano M Dias Mafalda M Frazer Jonathan J Medina-Gomez Carolina C Sterenborg Rosalie B T M RBTM Wang Hao H Dolcetta-Capuzzo Anna A de Rooij Linda J LJ

Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial.

Journal: The lancet. Diabetes & endocrinology

Publication Year: 2020

Authors & Co-authors:  Groeneweg Stefan S Peeters Robin P RP Moran Carla C Stoupa Athanasia A Auriol Françoise F Tonduti Davide D Dica Alice A Paone Laura L Rozenkova Klara K Malikova Jana J

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

Journal: The lancet. Diabetes & endocrinology

Publication Year: 2020

Authors & Co-authors:  Groeneweg Stefan S van Geest Ferdy S FS Abacı Ayhan A Alcantud Alberto A Ambegaonkar Gautem P GP Armour Christine M CM Bakhtiani Priyanka P Barca Diana D Bertini Enrico S ES van Beynum Ingrid M IM