Nephrotic syndrome genomic discovery in the Mass General Brigham Biobank identifies monoallelic MEFV variants as a risk factor for focal segmental glomerulosclerosis
麻省总医院布里格姆生物样本库的肾病综合征基因组学发现表明,单等位基因MEFV变异是局灶节段性肾小球硬化症的风险因素。
期刊:Kidney International
影响因子:12.6
doi:10.1016/j.kint.2025.12.013
Wongboonsin, Janewit; Gibson, Kristen M; Ke, Juntao; Sentell, Zachary T; Arcila-Galvis, Juliana E; Koyama, Satoshi; Greenberg, Anya; Reynolds, Kaylia M; Montini, Giovanni; Magistroni, Riccardo; Mitrotti, Adele; Gesualdo, Loreto; Pezzuto, Alessandro; Peruzzi, Licia; Caliskan, Yasar; Onuchic-Whitford, Ana C; Bunlungsup, Srichan; McNulty, Michelle; Gbadegesin, Rasheed; Saleem, Moin A; Pollak, Martin R; Hildebrandt, Friedhelm; Natarajan, Pradeep; Lee, Dongwon; Nigwekar, Sagar U; Sayer, John A; Sanna-Cherchi, Simone; Sampson, Matthew G