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Page 1
Inaxaplin for Proteinuric Kidney Disease in Persons with Two APOL1 Variants.
Egbuna O, Zimmerman B, Manos G, Fortier A, Chirieac MC, Dakin LA, Friedman DJ, Bramham K, Campbell K, Knebelmann B, Barisoni L, Falk RJ, Gipson DS, Lipkowitz MS, Ojo A, Bunnage ME, Pollak MR, Altshuler D, Chertow GM; VX19-147-101 Study Group. Egbuna O, et al. Among authors: pollak mr. N Engl J Med. 2023 Mar 16;388(11):969-979. doi: 10.1056/NEJMoa2202396. N Engl J Med. 2023. PMID: 36920755 Clinical Trial.
ADAR regulates APOL1 via A-to-I RNA editing by inhibition of MDA5 activation in a paradoxical biological circuit.
Riella CV, McNulty M, Ribas GT, Tattersfield CF, Perez-Gill C, Eichinger F, Kelly J, Chun J, Subramanian B, Guizelini D; Nephrotic Syndrome Study Network (NEPTUNE); Alper SL, Pollak MR, Sampson MG, Friedman DJ. Riella CV, et al. Among authors: pollak mr. Proc Natl Acad Sci U S A. 2022 Nov;119(44):e2210150119. doi: 10.1073/pnas.2210150119. Epub 2022 Oct 25. Proc Natl Acad Sci U S A. 2022. PMID: 36282916 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: pollak mr. 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.
Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease.
Gupta Y, Friedman DJ, McNulty MT, Khan A, Lane B, Wang C, Ke J, Jin G, Wooden B, Knob AL, Lim TY, Appel GB, Huggins K, Liu L, Mitrotti A, Stangl MC, Bomback A, Westland R, Bodria M, Marasa M, Shang N, Cohen DJ, Crew RJ, Morello W, Canetta P, Radhakrishnan J, Martino J, Liu Q, Chung WK, Espinoza A, Luo Y, Wei WQ, Feng Q, Weng C, Fang Y, Kullo IJ, Naderian M, Limdi N, Irvin MR, Tiwari H, Mohan S, Rao M, Dube GK, Chaudhary NS, Gutiérrez OM, Judd SE, Cushman M, Lange LA, Lange EM, Bivona DL, Verbitsky M, Winkler CA, Kopp JB, Santoriello D, Batal I, Pinheiro SVB, Oliveira EA, Simoes E Silva AC, Pisani I, Fiaccadori E, Lin F, Gesualdo L, Amoroso A, Ghiggeri GM, D'Agati VD, Magistroni R, Kenny EE, Loos RJF, Montini G, Hildebrandt F, Paul DS, Petrovski S, Goldstein DB, Kretzler M, Gbadegesin R, Gharavi AG, Kiryluk K, Sampson MG, Pollak MR, Sanna-Cherchi S. Gupta Y, et al. Among authors: pollak mr. Nat Commun. 2023 Nov 30;14(1):7836. doi: 10.1038/s41467-023-43020-9. Nat Commun. 2023. PMID: 38036523 Free PMC article.
Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome.
Barry A, McNulty MT, Jia X, Gupta Y, Debiec H, Luo Y, Nagano C, Horinouchi T, Jung S, Colucci M, Ahram DF, Mitrotti A, Sinha A, Teeninga N, Jin G, Shril S, Caridi G, Bodria M, Lim TY, Westland R, Zanoni F, Marasa M, Turudic D, Giordano M, Gesualdo L, Magistroni R, Pisani I, Fiaccadori E, Reiterova J, Maringhini S, Morello W, Montini G, Weng PL, Scolari F, Saraga M, Tasic V, Santoro D, van Wijk JAE, Milošević D, Kawai Y, Kiryluk K, Pollak MR, Gharavi A, Lin F, Simœs E Silva AC, Loos RJF, Kenny EE, Schreuder MF, Zurowska A, Dossier C, Ariceta G, Drozynska-Duklas M, Hogan J, Jankauskiene A, Hildebrandt F, Prikhodina L, Song K, Bagga A, Cheong H 2nd, Ghiggeri GM, Vachvanichsanong P, Nozu K, Lee D, Vivarelli M, Raychaudhuri S, Tokunaga K, Sanna-Cherchi S, Ronco P, Iijima K, Sampson MG. Barry A, et al. Among authors: pollak mr. Nat Commun. 2023 Apr 29;14(1):2481. doi: 10.1038/s41467-023-37985-w. Nat Commun. 2023. PMID: 37120605 Free PMC article.
Clinical and Pathological Heterogeneity in FSGS due to INF2 Mutations.
Morales-Alvarez MC, Knob A, Rennke HG, Pollak MR, Denker BM. Morales-Alvarez MC, et al. Among authors: pollak mr. Kidney Int Rep. 2022 Sep 9;7(12):2741-2745. doi: 10.1016/j.ekir.2022.08.033. eCollection 2022 Dec. Kidney Int Rep. 2022. PMID: 36506246 Free PMC article. No abstract available.
Mice with a Pax2 missense variant display impaired glomerular repair.
Cunanan J, Rajyam SS, Sharif B, Udwan K, Rana A, De Gregorio V, Ricardo S, Elia A, Brooks B, Weins A, Pollak M, John R, Barua M. Cunanan J, et al. Am J Physiol Renal Physiol. 2024 May 1;326(5):F704-F726. doi: 10.1152/ajprenal.00259.2023. Epub 2024 Mar 14. Am J Physiol Renal Physiol. 2024. PMID: 38482556
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
Lemire G, Sanchis-Juan A, Russell K, Baxter S, Chao KR, Singer-Berk M, Groopman E, Wong I, England E, Goodrich J, Pais L, Austin-Tse C, DiTroia S, O'Heir E, Ganesh VS, Wojcik MH, Evangelista E, Snow H, Osei-Owusu I, Fu J, Singh M, Mostovoy Y, Huang S, Garimella K, Kirkham SL, Neil JE, Shao DD, Walsh CA, Argilli E, Le C, Sherr EH, Gleeson JG, Shril S, Schneider R, Hildebrandt F, Sankaran VG, Madden JA, Genetti CA, Beggs AH, Agrawal PB, Bujakowska KM, Place E, Pierce EA, Donkervoort S, Bönnemann CG, Gallacher L, Stark Z, Tan TY, White SM, Töpf A, Straub V, Fleming MD, Pollak MR, Õunap K, Pajusalu S, Donald KA, Bruwer Z, Ravenscroft G, Laing NG, MacArthur DG, Rehm HL, Talkowski ME, Brand H, O'Donnell-Luria A. Lemire G, et al. Among authors: pollak mr. Am J Hum Genet. 2024 May 2;111(5):863-876. doi: 10.1016/j.ajhg.2024.03.008. Epub 2024 Apr 1. Am J Hum Genet. 2024. PMID: 38565148
175 results