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Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.
Balogh E, Chandler JC, Varga M, Tahoun M, Menyhárd DK, Schay G, Goncalves T, Hamar R, Légrádi R, Szekeres Á, Gribouval O, Kleta R, Stanescu H, Bockenhauer D, Kerti A, Williams H, Kinsler V, Di WL, Curtis D, Kolatsi-Joannou M, Hammid H, Szőcs A, Perczel K, Maka E, Toldi G, Sava F, Arrondel C, Kardos M, Fintha A, Hossain A, D'Arco F, Kaliakatsos M, Koeglmeier J, Mifsud W, Moosajee M, Faro A, Jávorszky E, Rudas G, Saied MH, Marzouk S, Kelen K, Götze J, Reusz G, Tulassay T, Dragon F, Mollet G, Motameny S, Thiele H, Dorval G, Nürnberg P, Perczel A, Szabó AJ, Long DA, Tomita K, Antignac C, Waters AM, Tory K. Balogh E, et al. Among authors: saied mh. Proc Natl Acad Sci U S A. 2020 Jun 30;117(26):15137-15147. doi: 10.1073/pnas.2002328117. Epub 2020 Jun 17. Proc Natl Acad Sci U S A. 2020. PMID: 32554502 Free PMC article.
Risk factors for haemodynamic compromise in multisystem inflammatory syndrome in children: a multicentre retrospective study.
Kaidar K, Dizitzer Y, Hashkes PJ, Wagner-Weiner L, Tesher M, Butbul Aviel Y, Inbar K, Berkun Y, Eisenstein EM, Saied MH, Goldzweig O, Heshin-Bekenstein M, Ling E, Feldon M, Levinsky Y, Tal R, Harel L, Amarilyo G. Kaidar K, et al. Among authors: saied mh. Rheumatology (Oxford). 2023 Aug 1;62(8):2829-2837. doi: 10.1093/rheumatology/keac692. Rheumatology (Oxford). 2023. PMID: 36583552
Repression of sphingosine kinase (SK)-interacting protein (SKIP) in acute myeloid leukemia diminishes SK activity and its re-expression restores SK function.
Ghazaly EA, Miraki-Moud F, Smith P, Gnanaranjan C, Koniali L, Oke A, Saied MH, Petty R, Matthews J, Stronge R, Joel SP, Young BD, Gribben J, Taussig DC. Ghazaly EA, et al. Among authors: saied mh. J Biol Chem. 2020 Apr 17;295(16):5496-5508. doi: 10.1074/jbc.RA119.010467. Epub 2020 Mar 11. J Biol Chem. 2020. PMID: 32161116 Free PMC article.