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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: varga m. 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.
Zebrafish Models of Rare Hereditary Pediatric Diseases.
Varga M, Ralbovszki D, Balogh E, Hamar R, Keszthelyi M, Tory K. Varga M, et al. Diseases. 2018 May 22;6(2):43. doi: 10.3390/diseases6020043. Diseases. 2018. PMID: 29789451 Free PMC article. Review.
Tissue-Specific Requirement for the GINS Complex During Zebrafish Development.
Varga M, Csályi K, Bertyák I, Menyhárd DK, Poole RJ, Cerveny KL, Kövesdi D, Barátki B, Rouse H, Vad Z, Hawkins TA, Stickney HL, Cavodeassi F, Schwarz Q, Young RM, Wilson SW. Varga M, et al. Front Cell Dev Biol. 2020 May 28;8:373. doi: 10.3389/fcell.2020.00373. eCollection 2020. Front Cell Dev Biol. 2020. PMID: 32548116 Free PMC article.
Autophagy in zebrafish.
Varga M, Fodor E, Vellai T. Varga M, et al. Methods. 2015 Mar;75:172-80. doi: 10.1016/j.ymeth.2014.12.004. Epub 2014 Dec 9. Methods. 2015. PMID: 25498006
SignaFish: A Zebrafish-Specific Signaling Pathway Resource.
Csályi K, Fazekas D, Kadlecsik T, Türei D, Gul L, Horváth B, Módos D, Demeter A, Pápai N, Lenti K, Csermely P, Vellai T, Korcsmáros T, Varga M. Csályi K, et al. Among authors: varga m. Zebrafish. 2016 Dec;13(6):541-544. doi: 10.1089/zeb.2016.1277. Epub 2016 Apr 20. Zebrafish. 2016. PMID: 27097230
614 results