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A null variant in the apolipoprotein L3 gene is associated with non-diabetic nephropathy.
Skorecki KL, Lee JH, Langefeld CD, Rosset S, Tzur S, Wasser WG, Shemer R, Hawkins GA, Divers J, Parekh RS, Li M, Sampson MG, Kretzler M, Pollak MR, Shah S, Blackler D, Nichols B, Wilmot M, Alper SL, Freedman BI, Friedman DJ. Skorecki KL, et al. Nephrol Dial Transplant. 2018 Feb 1;33(2):323-330. doi: 10.1093/ndt/gfw451. Nephrol Dial Transplant. 2018. PMID: 28339911 Free PMC article.
Recessive, gain-of-function toxicity in an APOL1 BAC transgenic mouse model mirrors human APOL1 kidney disease.
McCarthy GM, Blasio A, Donovan OG, Schaller LB, Bock-Hughes A, Magraner JM, Suh JH, Tattersfield CF, Stillman IE, Shah SS, Zsengeller ZK, Subramanian B, Friedman DJ, Pollak MR. McCarthy GM, et al. Among authors: shah ss. Dis Model Mech. 2021 Aug 1;14(8):dmm048952. doi: 10.1242/dmm.048952. Epub 2021 Aug 5. Dis Model Mech. 2021. PMID: 34350953 Free PMC article.
Apolipoprotein L1 (APOL1) cation current in HEK-293 cells and in human podocytes.
Vandorpe DH, Heneghan JF, Waitzman JS, McCarthy GM, Blasio A, Magraner JM, Donovan OG, Schaller LB, Shah SS, Subramanian B, Riella CV, Friedman DJ, Pollak MR, Alper SL. Vandorpe DH, et al. Among authors: shah ss. Pflugers Arch. 2023 Mar;475(3):323-341. doi: 10.1007/s00424-022-02767-8. Epub 2022 Nov 30. Pflugers Arch. 2023. PMID: 36449077 Free PMC article.
Genetic risk factors for Mesoamerican nephropathy.
Friedman DJ, Leone DA, Amador JJ, Kupferman J, Francey LJ, Lopez-Pilarte D, Lau J, Delgado I, Yih WK, Salinas A, Wang M, Genovese G, Shah S, Kelly J, Tattersfield CF, Raines NH, Amador M, Dias L, Pitsillides A, Ramirez-Rubio O, Amador AG, Cortopassi M, Applebaum KM, Alper SL, Banks AS, McClean MD, Leibler JH, Scammell MK, Dupuis J, Brooks DR. Friedman DJ, et al. Proc Natl Acad Sci U S A. 2024 Dec 3;121(49):e2404848121. doi: 10.1073/pnas.2404848121. Epub 2024 Nov 25. Proc Natl Acad Sci U S A. 2024. PMID: 39585978
1,272 results