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Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency.
Lovric S, Goncalves S, Gee HY, Oskouian B, Srinivas H, Choi WI, Shril S, Ashraf S, Tan W, Rao J, Airik M, Schapiro D, Braun DA, Sadowski CE, Widmeier E, Jobst-Schwan T, Schmidt JM, Girik V, Capitani G, Suh JH, Lachaussée N, Arrondel C, Patat J, Gribouval O, Furlano M, Boyer O, Schmitt A, Vuiblet V, Hashmi S, Wilcken R, Bernier FP, Innes AM, Parboosingh JS, Lamont RE, Midgley JP, Wright N, Majewski J, Zenker M, Schaefer F, Kuss N, Greil J, Giese T, Schwarz K, Catheline V, Schanze D, Franke I, Sznajer Y, Truant AS, Adams B, Désir J, Biemann R, Pei Y, Ars E, Lloberas N, Madrid A, Dharnidharka VR, Connolly AM, Willing MC, Cooper MA, Lifton RP, Simons M, Riezman H, Antignac C, Saba JD, Hildebrandt F. Lovric S, et al. Among authors: wright n. J Clin Invest. 2017 Mar 1;127(3):912-928. doi: 10.1172/JCI89626. Epub 2017 Feb 6. J Clin Invest. 2017. PMID: 28165339 Free PMC article.
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.
Shashi V, Schoch K, Ganetzky R, Kranz PG, Sondheimer N, Markert ML, Cope H, Sadeghpour A, Roehrs P, Arbogast T, Muraresku C; Undiagnosed Diseases Network; Tyndall AV, Esser MJ, Woodward KE, Ping-Yee Au B, Parboosingh JS, Lamont RE, Bernier FP, Wright NAM, Benseler SM, Parsons SJ, El-Dairi M, Smith EC, Valdez P, Tennison M, Innes AM, Davis EE. Shashi V, et al. Among authors: wright nam. Genet Med. 2023 Sep;25(9):100897. doi: 10.1016/j.gim.2023.100897. Epub 2023 May 13. Genet Med. 2023. PMID: 37191094 Free PMC article.
Improvements in large-scale production of Tobacco Etch Virus protease.
Messing S, Barnhart K, Drew M, Granato-Guerrero N, Grose C, Higgins B, Hong M, Hull J, Perkins S, Poon I, Ramakrishnan N, Seabolt A, Taylor T, Wall VE, Wright N, Gillette W, Esposito D. Messing S, et al. Among authors: wright n. Protein Expr Purif. 2024 Dec 14:106648. doi: 10.1016/j.pep.2024.106648. Online ahead of print. Protein Expr Purif. 2024. PMID: 39681152
Associations of long-term nitrogen dioxide exposure with a wide spectrum of diseases: a prospective cohort study of 0·5 million Chinese adults.
Xia X, Meng X, Liu C, Guo Y, Li X, Niu Y, Lam KBH, Wright N, Kartsonaki C, Chen Y, Yang L, Du H, Yu C, Sun D, Lv J, Chen J, Yang X, Gao R, Wu S, Kan H, Chan KH, Li L, Chen Z; China Kadoorie Biobank Study Group. Xia X, et al. Among authors: wright n. Lancet Public Health. 2024 Dec;9(12):e1047-e1058. doi: 10.1016/S2468-2667(24)00264-0. Lancet Public Health. 2024. PMID: 39643329 Free PMC article.
Risk prediction of ischemic heart disease using plasma proteomics, conventional risk factors and polygenic scores in Chinese and European adults.
Mazidi M, Wright N, Yao P, Kartsonaki C, Millwood IY, Fry H, Said S, Pozarickij A, Pei P, Chen Y, Wang B, Avery D, Du H, Schmidt DV, Yang L, Lv J, Yu C, Sun D, Chen J, Hill M, Peto R, Collins R, Bennett DA, Walters RG, Li L, Clarke R, Chen Z; China Kadoorie Biobank Collaborative Group. Mazidi M, et al. Among authors: wright n. Eur J Epidemiol. 2024 Nov;39(11):1229-1240. doi: 10.1007/s10654-024-01168-8. Epub 2024 Nov 22. Eur J Epidemiol. 2024. PMID: 39578299 Free PMC article.
The phenotypic spectrum of PTCD3 deficiency.
Lace B, Faqeih E, Kaya N, Krumina Z, Mayr JA, Micule I, Wright NT, Achleitner MT, AlQudairy H, Pajusalu S, Stavusis J, Zayakin P, Inashkina I. Lace B, et al. Among authors: wright nt. JIMD Rep. 2024 May 27;65(5):297-304. doi: 10.1002/jmd2.12424. eCollection 2024 Sep. JIMD Rep. 2024. PMID: 39544688 Free PMC article.
1,901 results