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Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F. Braun DA, et al. Among authors: choi wi. Nat Genet. 2017 Oct;49(10):1529-1538. doi: 10.1038/ng.3933. Epub 2017 Aug 14. Nat Genet. 2017. PMID: 28805828 Free PMC article.
Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome.
Braun DA, Sadowski CE, Kohl S, Lovric S, Astrinidis SA, Pabst WL, Gee HY, Ashraf S, Lawson JA, Shril S, Airik M, Tan W, Schapiro D, Rao J, Choi WI, Hermle T, Kemper MJ, Pohl M, Ozaltin F, Konrad M, Bogdanovic R, Büscher R, Helmchen U, Serdaroglu E, Lifton RP, Antonin W, Hildebrandt F. Braun DA, et al. Among authors: choi wi. Nat Genet. 2016 Apr;48(4):457-65. doi: 10.1038/ng.3512. Epub 2016 Feb 15. Nat Genet. 2016. PMID: 26878725 Free PMC article.
Response.
Choi JY, Kim KU, Kim DK, Kim YI, Kim TH, Lee WY, Park SJ, Park YB, Song JW, Shin KC, Um SJ, Yoo KH, Yoon HK, Lee CY, Lee HS, Leem AY, Choi WI, Lim SY, Rhee CK; Korean Pulmonary Rehabilitation Study Group. Choi JY, et al. Among authors: choi wi. Chest. 2024 Apr;165(4):e126-e128. doi: 10.1016/j.chest.2023.11.003. Chest. 2024. PMID: 38599758 No abstract available.
Association between mechanical power and intensive care unit mortality in Korean patients under pressure-controlled ventilation.
Sim JK, Lee SM, Kang HK, Kim KC, Kim YS, Kim YS, Lee WY, Park S, Park SY, Park JH, Sim YS, Lee K, Lee YJ, Lee JH, Lee HB, Lim CM, Choi WI, Hong JY, Song WJ, Suh GY. Sim JK, et al. Among authors: choi wi. Acute Crit Care. 2024 Feb;39(1):91-99. doi: 10.4266/acc.2023.00871. Epub 2024 Jan 26. Acute Crit Care. 2024. PMID: 38303581 Free PMC article.
248 results