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Biallelic NFATC1 mutations cause an inborn error of immunity with impaired CD8+ T-cell function and perturbed glycolysis.
Kostel Bal S, Giuliani S, Block J, Repiscak P, Hafemeister C, Shahin T, Kasap N, Ransmayr B, Miao Y, van de Wetering C, Frohne A, Jimenez Heredia R, Schuster M, Zoghi S, Hertlein V, Thian M, Bykov A, Babayeva R, Bilgic Eltan S, Karakoc-Aydiner E, Shaw LE, Chowdhury I, Varjosalo M, Argüello RJ, Farlik M, Ozen A, Serfling E, Dupré L, Bock C, Halbritter F, Hannich JT, Castanon I, Kraakman MJ, Baris S, Boztug K. Kostel Bal S, et al. Among authors: hannich jt. Blood. 2023 Aug 31;142(9):827-845. doi: 10.1182/blood.2022018303. Blood. 2023. PMID: 37249233 Free article.
Ether lipids, sphingolipids and toxic 1-deoxyceramides as hallmarks for lean and obese type 2 diabetic patients.
Hannich JT, Loizides-Mangold U, Sinturel F, Harayama T, Vandereycken B, Saini C, Gosselin P, Brulhart-Meynet MC, Robert M, Chanon S, Durand C, Paz Montoya J, David FPA, Guessous I, Pataky Z, Golay A, Jornayvaz FR, Philippe J, Dermitzakis ET, Brown SA, Lefai E, Riezman H, Dibner C. Hannich JT, et al. Acta Physiol (Oxf). 2021 May;232(1):e13610. doi: 10.1111/apha.13610. Epub 2021 Jan 14. Acta Physiol (Oxf). 2021. PMID: 33351229
Distribution and functions of sterols and sphingolipids.
Hannich JT, Umebayashi K, Riezman H. Hannich JT, et al. Cold Spring Harb Perspect Biol. 2011 May 1;3(5):a004762. doi: 10.1101/cshperspect.a004762. Cold Spring Harb Perspect Biol. 2011. PMID: 21454248 Free PMC article. Review.
26 results