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Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.
van der Ven AT, Connaughton DM, Ityel H, Mann N, Nakayama M, Chen J, Vivante A, Hwang DY, Schulz J, Braun DA, Schmidt JM, Schapiro D, Schneider R, Warejko JK, Daga A, Majmundar AJ, Tan W, Jobst-Schwan T, Hermle T, Widmeier E, Ashraf S, Amar A, Hoogstraaten CA, Hugo H, Kitzler TM, Kause F, Kolvenbach CM, Dai R, Spaneas L, Amann K, Stein DR, Baum MA, Somers MJG, Rodig NM, Ferguson MA, Traum AZ, Daouk GH, Bogdanović R, Stajić N, Soliman NA, Kari JA, El Desoky S, Fathy HM, Milosevic D, Al-Saffar M, Awad HS, Eid LA, Selvin A, Senguttuvan P, Sanna-Cherchi S, Rehm HL, MacArthur DG, Lek M, Laricchia KM, Wilson MW, Mane SM, Lifton RP, Lee RS, Bauer SB, Lu W, Reutter HM, Tasic V, Shril S, Hildebrandt F. van der Ven AT, et al. J Am Soc Nephrol. 2018 Sep;29(9):2348-2361. doi: 10.1681/ASN.2017121265. Epub 2018 Aug 24. J Am Soc Nephrol. 2018. PMID: 30143558 Free PMC article.
Age of Onset and Disease Course in Biopsy-Proven Minimal Change Disease: An Analysis From the Cure Glomerulonephropathy Network.
Chen DP, Helmuth ME, Smith AR, Canetta PA, Ayoub I, Mucha K, Kallash M, Kopp JB, Gbadegesin R, Gillespie BW, Greenbaum LA, Parekh RS, Hunley TE, Sperati CJ, Selewski DT, Kidd J, Chishti A, Reidy K, Mottl AK, Gipson DS, Srivastava T, Twombley KE; CureGN Consortium. Chen DP, et al. Am J Kidney Dis. 2023 Jun;81(6):695-706.e1. doi: 10.1053/j.ajkd.2022.11.012. Epub 2023 Jan 3. Am J Kidney Dis. 2023. PMID: 36608921 Free PMC article.
Association of COVID-19 Versus COVID-19 Vaccination With Kidney Function and Disease Activity in Primary Glomerular Disease: A Report of the Cure Glomerulonephropathy Study.
Wang CS, Glenn DA, Helmuth M, Smith AR, Bomback AS, Canetta PA, Coppock GM, Khalid M, Tuttle KR, Bou-Matar R, Greenbaum LA, Robinson BM, Holzman LB, Smoyer WE, Rheault MN, Gipson D, Mariani LH; Cure Glomerulonephropathy (CureGN) Study Consortium. Wang CS, et al. Am J Kidney Dis. 2024 Jan;83(1):37-46. doi: 10.1053/j.ajkd.2023.07.008. Epub 2023 Aug 31. Am J Kidney Dis. 2024. PMID: 37657635
Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease.
Gupta Y, Friedman DJ, McNulty M, 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 G, Chaudhary NS, Gutiérrez OM, Judd SE, Cushman M, Lange LA, Lange EM, Bivona DL, Verbitsky M, Winkler CA, Kopp JB, Santoriello D, Batal I, Brant Pinheiro SV, Araújo Oliveira E, E Silva ACS, 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: sanna cherchi s. medRxiv [Preprint]. 2023 Aug 4:2023.08.02.23293554. doi: 10.1101/2023.08.02.23293554. medRxiv. 2023. Update in: Nat Commun. 2023 Nov 30;14(1):7836. doi: 10.1038/s41467-023-43020-9. PMID: 37577628 Free PMC article. Updated. Preprint.
Impact of diet and host genetics on the murine intestinal mycobiome.
Gupta Y, Ernst AL, Vorobyev A, Beltsiou F, Zillikens D, Bieber K, Sanna-Cherchi S, Christiano AM, Sadik CD, Ludwig RJ, Sezin T. Gupta Y, et al. Nat Commun. 2023 Feb 14;14(1):834. doi: 10.1038/s41467-023-36479-z. Nat Commun. 2023. PMID: 36788222 Free PMC article.
A recessive gene for primary vesicoureteral reflux maps to chromosome 12p11-q13.
Weng PL, Sanna-Cherchi S, Hensle T, Shapiro E, Werzberger A, Caridi G, Izzi C, Konka A, Reese AC, Cheng R, Werzberger S, Schlussel RN, Burk RD, Lee JH, Ravazzolo R, Scolari F, Ghiggeri GM, Glassberg K, Gharavi AG. Weng PL, et al. J Am Soc Nephrol. 2009 Jul;20(7):1633-40. doi: 10.1681/ASN.2008111199. Epub 2009 May 14. J Am Soc Nephrol. 2009. PMID: 19443636 Free PMC article.
Renal outcome in patients with congenital anomalies of the kidney and urinary tract.
Sanna-Cherchi S, Ravani P, Corbani V, Parodi S, Haupt R, Piaggio G, Innocenti ML, Somenzi D, Trivelli A, Caridi G, Izzi C, Scolari F, Mattioli G, Allegri L, Ghiggeri GM. Sanna-Cherchi S, et al. Kidney Int. 2009 Sep;76(5):528-33. doi: 10.1038/ki.2009.220. Epub 2009 Jun 17. Kidney Int. 2009. PMID: 19536081 Free article.
Copy-number disorders are a common cause of congenital kidney malformations.
Sanna-Cherchi S, Kiryluk K, Burgess KE, Bodria M, Sampson MG, Hadley D, Nees SN, Verbitsky M, Perry BJ, Sterken R, Lozanovski VJ, Materna-Kiryluk A, Barlassina C, Kini A, Corbani V, Carrea A, Somenzi D, Murtas C, Ristoska-Bojkovska N, Izzi C, Bianco B, Zaniew M, Flogelova H, Weng PL, Kacak N, Giberti S, Gigante M, Arapovic A, Drnasin K, Caridi G, Curioni S, Allegri F, Ammenti A, Ferretti S, Goj V, Bernardo L, Jobanputra V, Chung WK, Lifton RP, Sanders S, State M, Clark LN, Saraga M, Padmanabhan S, Dominiczak AF, Foroud T, Gesualdo L, Gucev Z, Allegri L, Latos-Bielenska A, Cusi D, Scolari F, Tasic V, Hakonarson H, Ghiggeri GM, Gharavi AG. Sanna-Cherchi S, et al. Am J Hum Genet. 2012 Dec 7;91(6):987-97. doi: 10.1016/j.ajhg.2012.10.007. Epub 2012 Nov 15. Am J Hum Genet. 2012. PMID: 23159250 Free PMC article.
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