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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: kolatsi joannou 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.
Spatiotemporal dynamics and heterogeneity of renal lymphatics in mammalian development and cystic kidney disease.
Jafree DJ, Moulding D, Kolatsi-Joannou M, Perretta Tejedor N, Price KL, Milmoe NJ, Walsh CL, Correra RM, Winyard PJ, Harris PC, Ruhrberg C, Walker-Samuel S, Riley PR, Woolf AS, Scambler PJ, Long DA. Jafree DJ, et al. Among authors: kolatsi joannou m. Elife. 2019 Dec 6;8:e48183. doi: 10.7554/eLife.48183. Elife. 2019. PMID: 31808745 Free PMC article.
Albuminuria is associated with too few glomeruli and too much testosterone.
Long DA, Kolatsi-Joannou M, Price KL, Dessapt-Baradez C, Huang JL, Papakrivopoulou E, Hubank M, Korstanje R, Gnudi L, Woolf AS. Long DA, et al. Kidney Int. 2013 Jun;83(6):1118-29. doi: 10.1038/ki.2013.45. Epub 2013 Feb 27. Kidney Int. 2013. PMID: 23447063 Free PMC article.
26 results