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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: liu y. 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.
Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.
Zaghloul NA, Liu Y, Gerdes JM, Gascue C, Oh EC, Leitch CC, Bromberg Y, Binkley J, Leibel RL, Sidow A, Badano JL, Katsanis N. Zaghloul NA, et al. Among authors: liu y. Proc Natl Acad Sci U S A. 2010 Jun 8;107(23):10602-7. doi: 10.1073/pnas.1000219107. Epub 2010 May 24. Proc Natl Acad Sci U S A. 2010. PMID: 20498079 Free PMC article.
Heart failure promotes multimorbidity through innate immune memory.
Nakayama Y, Fujiu K, Oshima T, Matsuda J, Sugita J, Matsubara TJ, Liu Y, Goto K, Kani K, Uchida R, Takeda N, Morita H, Xiao Y, Hayashi M, Maru Y, Hasumi E, Kojima T, Ishiguro S, Kijima Y, Yachie N, Yamazaki S, Yamamoto R, Kudo F, Nakanishi M, Iwama A, Fujiki R, Kaneda A, Ohara O, Nagai R, Manabe I, Komuro I. Nakayama Y, et al. Among authors: liu y. Sci Immunol. 2024 May 24;9(95):eade3814. doi: 10.1126/sciimmunol.ade3814. Epub 2024 May 24. Sci Immunol. 2024. PMID: 38787963
191,967 results
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