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Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.
Ashraf S, Kudo H, Rao J, Kikuchi A, Widmeier E, Lawson JA, Tan W, Hermle T, Warejko JK, Shril S, Airik M, Jobst-Schwan T, Lovric S, Braun DA, Gee HY, Schapiro D, Majmundar AJ, Sadowski CE, Pabst WL, Daga A, van der Ven AT, Schmidt JM, Low BC, Gupta AB, Tripathi BK, Wong J, Campbell K, Metcalfe K, Schanze D, Niihori T, Kaito H, Nozu K, Tsukaguchi H, Tanaka R, Hamahira K, Kobayashi Y, Takizawa T, Funayama R, Nakayama K, Aoki Y, Kumagai N, Iijima K, Fehrenbach H, Kari JA, El Desoky S, Jalalah S, Bogdanovic R, Stajić N, Zappel H, Rakhmetova A, Wassmer SR, Jungraithmayr T, Strehlau J, Kumar AS, Bagga A, Soliman NA, Mane SM, Kaufman L, Lowy DR, Jairajpuri MA, Lifton RP, Pei Y, Zenker M, Kure S, Hildebrandt F. Ashraf S, et al. Among authors: kaufman l. Nat Commun. 2018 May 17;9(1):1960. doi: 10.1038/s41467-018-04193-w. Nat Commun. 2018. PMID: 29773874 Free PMC article.
Disruption of MAGI2-RapGEF2-Rap1 signaling contributes to podocyte dysfunction in congenital nephrotic syndrome caused by mutations in MAGI2.
Zhu B, Cao A, Li J, Young J, Wong J, Ashraf S, Bierzynska A, Menon MC, Hou S, Sawyers C, Campbell KN, Saleem MA, He JC, Hildebrandt F, D'Agati VD, Peng W, Kaufman L. Zhu B, et al. Among authors: kaufman l. Kidney Int. 2019 Sep;96(3):642-655. doi: 10.1016/j.kint.2019.03.016. Epub 2019 Mar 28. Kidney Int. 2019. PMID: 31171376 Free PMC article.
SHROOM3-FYN Interaction Regulates Nephrin Phosphorylation and Affects Albuminuria in Allografts.
Wei C, Banu K, Garzon F, Basgen JM, Philippe N, Yi Z, Liu R, Choudhuri J, Fribourg M, Liu T, Cumpelik A, Wong J, Khan M, Das B, Keung K, Salem F, Campbell KN, Kaufman L, Cravedi P, Zhang W, O'Connell PJ, He JC, Murphy B, Menon MC. Wei C, et al. Among authors: kaufman l. J Am Soc Nephrol. 2018 Nov;29(11):2641-2657. doi: 10.1681/ASN.2018060573. Epub 2018 Oct 19. J Am Soc Nephrol. 2018. PMID: 30341149 Free PMC article.
DACH1 protects podocytes from experimental diabetic injury and modulates PTIP-H3K4Me3 activity.
Cao A, Li J, Asadi M, Basgen JM, Zhu B, Yi Z, Jiang S, Doke T, El Shamy O, Patel N, Cravedi P, Azeloglu EU, Campbell KN, Menon M, Coca S, Zhang W, Wang H, Zen K, Liu Z, Murphy B, He JC, D'Agati VD, Susztak K, Kaufman L. Cao A, et al. Among authors: kaufman l. J Clin Invest. 2021 May 17;131(10):e141279. doi: 10.1172/JCI141279. J Clin Invest. 2021. PMID: 33998601 Free PMC article.
AMPK mediates regulation of glomerular volume and podocyte survival.
Banu K, Lin Q, Basgen JM, Planoutene M, Wei C, Reghuvaran AC, Tian X, Shi H, Garzon F, Garzia A, Chun N, Cumpelik A, Santeusanio AD, Zhang W, Das B, Salem F, Li L, Ishibe S, Cantley LG, Kaufman L, Lemley KV, Ni Z, He JC, Murphy B, Menon MC. Banu K, et al. Among authors: kaufman l. JCI Insight. 2021 Oct 8;6(19):e150004. doi: 10.1172/jci.insight.150004. JCI Insight. 2021. PMID: 34473647 Free PMC article.
1,056 results