Titre:
  • A new form of diabetes caused by INS mutations defined by zygosity, stem cell and population data.
Auteur:Tong, Yue; Becker, Marianne; Schierloh, Ulrike; Natividade da Silva, Flávia; Haataja, Leena; Cai, Ying; Patel, Kashyap A.; Kobaisi, Farah; Mirshahi, Uyelinh L; Colclough, Kevin; Javed, Muhammad Shabab; Wakeling, Matthew Neil; Fantuzzi, Federica; Lytrivi, Maria; Sawatani, Toshiaki; Arroyo, Maria Nicol; Yi, Xiaoyan; Vinci, Chiara; Montaser, Hossam El-dien; Pachera, Nathalie; Otonkoski, Timo; Igoillo Esteve, Mariana; Scharfmann, Raphaël; Hattersley, Andrew A.T.; Arvan, Peter; De Beaufort, Carine; Cnop, Miriam
Informations sur la publication:EMBO molecular medicine
Statut de publication:Publié, 2026-01-03
Sujet CREF:Sciences biomédicales
Endocrinologie
Diabétologie
Mots-clés:INS R6C Variant
Monogenic Diabetes
Population Genomics
Rare Variant Penetrance
iPSC-Derived β Cells
Langue:Anglais
Identificateurs:urn:issn:1757-4676
info:doi/10.1038/s44321-025-00362-9
info:pii/10.1038/s44321-025-00362-9
info:pmid/41484206