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Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy.
O'Toole JF, Liu Y, Davis EE, Westlake CJ, Attanasio M, Otto EA, Seelow D, Nurnberg G, Becker C, Nuutinen M, Kärppä M, Ignatius J, Uusimaa J, Pakanen S, Jaakkola E, van den Heuvel LP, Fehrenbach H, Wiggins R, Goyal M, Zhou W, Wolf MT, Wise E, Helou J, Allen SJ, Murga-Zamalloa CA, Ashraf S, Chaki M, Heeringa S, Chernin G, Hoskins BE, Chaib H, Gleeson J, Kusakabe T, Suzuki T, Isaac RE, Quarmby LM, Tennant B, Fujioka H, Tuominen H, Hassinen I, Lohi H, van Houten JL, Rotig A, Sayer JA, Rolinski B, Freisinger P, Madhavan SM, Herzer M, Madignier F, Prokisch H, Nurnberg P, Jackson PK, Khanna H, Katsanis N, Hildebrandt F. O'Toole JF, et al. Among authors: madhavan sm. J Clin Invest. 2010 Mar;120(3):791-802. doi: 10.1172/JCI40076. Epub 2010 Feb 22. J Clin Invest. 2010. PMID: 20179356 Free PMC article.
The Cell Biology of APOL1.
O'Toole JF, Bruggeman LA, Madhavan S, Sedor JR. O'Toole JF, et al. Semin Nephrol. 2017 Nov;37(6):538-545. doi: 10.1016/j.semnephrol.2017.07.007. Semin Nephrol. 2017. PMID: 29110761 Free PMC article. Review.
APOL1 localization in normal kidney and nondiabetic kidney disease.
Madhavan SM, O'Toole JF, Konieczkowski M, Ganesan S, Bruggeman LA, Sedor JR. Madhavan SM, et al. J Am Soc Nephrol. 2011 Nov;22(11):2119-28. doi: 10.1681/ASN.2011010069. Epub 2011 Oct 13. J Am Soc Nephrol. 2011. PMID: 21997392 Free PMC article.
APOL1-G0 or APOL1-G2 Transgenic Models Develop Preeclampsia but Not Kidney Disease.
Bruggeman LA, Wu Z, Luo L, Madhavan SM, Konieczkowski M, Drawz PE, Thomas DB, Barisoni L, Sedor JR, O'Toole JF. Bruggeman LA, et al. Among authors: madhavan sm. J Am Soc Nephrol. 2016 Dec;27(12):3600-3610. doi: 10.1681/ASN.2015111220. Epub 2016 Mar 29. J Am Soc Nephrol. 2016. PMID: 27026370 Free PMC article.
An atlas of healthy and injured cell states and niches in the human kidney.
Lake BB, Menon R, Winfree S, Hu Q, Melo Ferreira R, Kalhor K, Barwinska D, Otto EA, Ferkowicz M, Diep D, Plongthongkum N, Knoten A, Urata S, Mariani LH, Naik AS, Eddy S, Zhang B, Wu Y, Salamon D, Williams JC, Wang X, Balderrama KS, Hoover PJ, Murray E, Marshall JL, Noel T, Vijayan A, Hartman A, Chen F, Waikar SS, Rosas SE, Wilson FP, Palevsky PM, Kiryluk K, Sedor JR, Toto RD, Parikh CR, Kim EH, Satija R, Greka A, Macosko EZ, Kharchenko PV, Gaut JP, Hodgin JB; KPMP Consortium; Eadon MT, Dagher PC, El-Achkar TM, Zhang K, Kretzler M, Jain S. Lake BB, et al. Nature. 2023 Jul;619(7970):585-594. doi: 10.1038/s41586-023-05769-3. Epub 2023 Jul 19. Nature. 2023. PMID: 37468583 Free PMC article.
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