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Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia.
Kiparissi F, Dastamani A, Palm L, Azabdaftari A, Campos L, Gaynor E, Grünewald S, Uhlig HH, Kleta R, Böckenhauer D, Jones KDJ. Kiparissi F, et al. Among authors: azabdaftari a. Hum Genet. 2023 May;142(5):697-704. doi: 10.1007/s00439-023-02523-7. Epub 2023 Feb 11. Hum Genet. 2023. PMID: 36773065 Free PMC article.
Cellular and molecular basis of proximal small intestine disorders.
Bildstein T, Charbit-Henrion F, Azabdaftari A, Cerf-Bensussan N, Uhlig HH. Bildstein T, et al. Among authors: azabdaftari a. Nat Rev Gastroenterol Hepatol. 2024 Oct;21(10):687-709. doi: 10.1038/s41575-024-00962-9. Epub 2024 Aug 8. Nat Rev Gastroenterol Hepatol. 2024. PMID: 39117867 Review.
Patient-derived organoid biobank identifies epigenetic dysregulation of intestinal epithelial MHC-I as a novel mechanism in severe Crohn's Disease.
Dennison TW, Edgar RD, Payne F, Nayak KM, Ross ADB, Cenier A, Glemas C, Giachero F, Foster AR, Harris R, Kraiczy J, Salvestrini C, Stavrou G, Torrente F, Brook K, Trayers C, Elmentaite R, Youssef G, Tél B, Winton DJ, Skoufou-Papoutsaki N, Adler S, Bufler P, Azabdaftari A, Jenke A, G N, Thomas N, Miele E, Al-Mohammad A, Guarda G, Kugathasan S, Venkateswaran S, Clatworthy MR, Castro-Dopico T, Suchanek O, Strisciuglio C, Gasparetto M, Lee S, Xu X, Bello E, Han N, Zerbino DR, Teichmann SA, Nys J, Heuschkel R, Perrone F, Zilbauer M. Dennison TW, et al. Among authors: azabdaftari a. Gut. 2024 Aug 8;73(9):1464-1477. doi: 10.1136/gutjnl-2024-332043. Gut. 2024. PMID: 38857990 Free PMC article.
15 results