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Page 1
Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations.
Vylet'al P, Kidd K, Ainsworth HC, Springer D, Vrbacká A, Přistoupilová A, Hughey RP, Alper SL, Lennon N, Harrison S, Harden M, Robins V, Taylor A, Martin L, Howard K, Bitar I, Langefeld CD, Barešová V, Hartmannová H, Hodaňová K, Zima T, Živná M, Kmoch S, Bleyer AJ. Vylet'al P, et al. Among authors: alper sl. Am J Nephrol. 2021;52(5):378-387. doi: 10.1159/000515810. Epub 2021 Jun 7. Am J Nephrol. 2021. PMID: 34098564 Free PMC article.
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.
Kirby A, Gnirke A, Jaffe DB, Barešová V, Pochet N, Blumenstiel B, Ye C, Aird D, Stevens C, Robinson JT, Cabili MN, Gat-Viks I, Kelliher E, Daza R, DeFelice M, Hůlková H, Sovová J, Vylet'al P, Antignac C, Guttman M, Handsaker RE, Perrin D, Steelman S, Sigurdsson S, Scheinman SJ, Sougnez C, Cibulskis K, Parkin M, Green T, Rossin E, Zody MC, Xavier RJ, Pollak MR, Alper SL, Lindblad-Toh K, Gabriel S, Hart PS, Regev A, Nusbaum C, Kmoch S, Bleyer AJ, Lander ES, Daly MJ. Kirby A, et al. Among authors: alper sl. Nat Genet. 2013 Mar;45(3):299-303. doi: 10.1038/ng.2543. Epub 2013 Feb 10. Nat Genet. 2013. PMID: 23396133 Free PMC article.
Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.
Eckardt KU, Alper SL, Antignac C, Bleyer AJ, Chauveau D, Dahan K, Deltas C, Hosking A, Kmoch S, Rampoldi L, Wiesener M, Wolf MT, Devuyst O; Kidney Disease: Improving Global Outcomes. Eckardt KU, et al. Among authors: alper sl. Kidney Int. 2015 Oct;88(4):676-83. doi: 10.1038/ki.2015.28. Epub 2015 Mar 4. Kidney Int. 2015. PMID: 25738250 Free article.
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. Among authors: alper sl. Nephrol Dial Transplant. 2018 Feb 1;33(2):323-330. doi: 10.1093/ndt/gfw451. Nephrol Dial Transplant. 2018. PMID: 28339911 Free PMC article.
Noninvasive Immunohistochemical Diagnosis and Novel MUC1 Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease.
Živná M, Kidd K, Přistoupilová A, Barešová V, DeFelice M, Blumenstiel B, Harden M, Conlon P, Lavin P, Connaughton DM, Hartmannová H, Hodaňová K, Stránecký V, Vrbacká A, Vyleťal P, Živný J, Votruba M, Sovová J, Hůlková H, Robins V, Perry R, Wenzel A, Beck BB, Seeman T, Viklický O, Rajnochová-Bloudíčková S, Papagregoriou G, Deltas CC, Alper SL, Greka A, Bleyer AJ, Kmoch S. Živná M, et al. Among authors: alper sl. J Am Soc Nephrol. 2018 Sep;29(9):2418-2431. doi: 10.1681/ASN.2018020180. Epub 2018 Jul 2. J Am Soc Nephrol. 2018. PMID: 29967284 Free PMC article.
Small Molecule Targets TMED9 and Promotes Lysosomal Degradation to Reverse Proteinopathy.
Dvela-Levitt M, Kost-Alimova M, Emani M, Kohnert E, Thompson R, Sidhom EH, Rivadeneira A, Sahakian N, Roignot J, Papagregoriou G, Montesinos MS, Clark AR, McKinney D, Gutierrez J, Roth M, Ronco L, Elonga E, Carter TA, Gnirke A, Melanson M, Hartland K, Wieder N, Hsu JC, Deltas C, Hughey R, Bleyer AJ, Kmoch S, Živná M, Barešova V, Kota S, Schlondorff J, Heiman M, Alper SL, Wagner F, Weins A, Golub TR, Lander ES, Greka A. Dvela-Levitt M, et al. Among authors: alper sl. Cell. 2019 Jul 25;178(3):521-535.e23. doi: 10.1016/j.cell.2019.07.002. Cell. 2019. PMID: 31348885 Free article.
FSGS-Causing INF2 Mutation Impairs Cleaved INF2 N-Fragment Functions in Podocytes.
Subramanian B, Chun J, Perez-Gill C, Yan P, Stillman IE, Higgs HN, Alper SL, Schlöndorff JS, Pollak MR. Subramanian B, et al. Among authors: alper sl. J Am Soc Nephrol. 2020 Feb;31(2):374-391. doi: 10.1681/ASN.2019050443. Epub 2020 Jan 10. J Am Soc Nephrol. 2020. PMID: 31924668 Free PMC article.
377 results