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Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase.
Jones AG, Aquilino M, Tinker RJ, Duncan L, Jenkins Z, Carvill GL, DeWard SJ, Grange DK, Hajianpour MJ, Halliday BJ, Holder-Espinasse M, Horvath J, Maitz S, Nigro V, Morleo M, Paul V, Spencer C, Esterhuizen AI, Polster T, Spano A, Gómez-Lozano I, Kumar A, Poke G, Phillips JA 3rd, Underhill HR, Gimenez G, Namba T, Robertson SP. Jones AG, et al. Among authors: namba t. Am J Hum Genet. 2024 Apr 4;111(4):729-741. doi: 10.1016/j.ajhg.2024.03.005. Am J Hum Genet. 2024. PMID: 38579670
Mechanical convergence in mixed populations of mammalian epithelial cells.
Gauquelin E, Kuromiya K, Namba T, Ikawa K, Fujita Y, Ishihara S, Sugimura K. Gauquelin E, et al. Among authors: namba t. Eur Phys J E Soft Matter. 2024 Mar 27;47(3):21. doi: 10.1140/epje/s10189-024-00415-w. Eur Phys J E Soft Matter. 2024. PMID: 38538808 Free PMC article.
659 results