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Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome.
Solanki AK, Widmeier E, Arif E, Sharma S, Daga A, Srivastava P, Kwon SH, Hugo H, Nakayama M, Mann N, Majmundar AJ, Tan W, Gee HY, Sadowski CE, Rinat C, Becker-Cohen R, Bergmann C, Rosen S, Somers M, Shril S, Huber TB, Mane S, Hildebrandt F, Nihalani D. Solanki AK, et al. Among authors: rosen s. Kidney Int. 2019 Oct;96(4):883-889. doi: 10.1016/j.kint.2019.06.016. Epub 2019 Jul 10. Kidney Int. 2019. PMID: 31472902 Free PMC article.
Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice.
Majmundar AJ, Buerger F, Forbes TA, Klämbt V, Schneider R, Deutsch K, Kitzler TM, Howden SE, Scurr M, Tan KS, Krzeminski M, Widmeier E, Braun DA, Lai E, Ullah I, Amar A, Kolb A, Eddy K, Chen CH, Salmanullah D, Dai R, Nakayama M, Ottlewski I, Kolvenbach CM, Onuchic-Whitford AC, Mao Y, Mann N, Nabhan MM, Rosen S, Forman-Kay JD, Soliman NA, Heilos A, Kain R, Aufricht C, Mane S, Lifton RP, Shril S, Little MH, Hildebrandt F. Majmundar AJ, et al. Among authors: rosen s. Sci Adv. 2021 Jan 1;7(1):eabe1386. doi: 10.1126/sciadv.abe1386. Print 2021 Jan. Sci Adv. 2021. PMID: 33523862 Free PMC article.
Brentuximab Vedotin Plus Ibrutinib in Relapsed and Refractory Hodgkin Lymphoma.
Mei M, Tsai NC, Palmer J, Armenian S, Chen R, Rosen S, Forman S, Popplewell L, Kwak L, Martin P, Maddocks K, Bond D, Herrera AF. Mei M, et al. Among authors: rosen s. Clin Lymphoma Myeloma Leuk. 2024 Apr 10:S2152-2650(24)00148-4. doi: 10.1016/j.clml.2024.03.013. Online ahead of print. Clin Lymphoma Myeloma Leuk. 2024. PMID: 38693037
2,111 results