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A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling. Vivante A, Mann N, Yonath H, Weiss AC, Getwan M, Kaminski MM, Bohnenpoll T, Teyssier C, Chen J, Shril S, van der Ven AT, Ityel H, Schmidt JM, Widmeier E, Bauer SB, Sanna-Cherchi S, Gharavi AG, Lu W, Magen D, Shukrun R, Lifton RP, Tasic V, Stanescu HC, Cavaillès V, Kleta R, Anikster Y, Dekel B, Kispert A, Lienkamp SS, Hildebrandt F. J Am Soc Nephrol. 2017 Apr 5. pii: ASN.2016060694. doi: 10.1681/ASN.2016060694. [Epub ahead of print] PMID: 28381549

Genomic Disorders and Neurocognitive Impairment in Pediatric CKD. Verbitsky M, Kogon AJ, Matheson M, Hooper SR, Wong CS, Warady BA, Furth SL, Gharavi AG. J Am Soc Nephrol. 2017 Mar 27. pii: ASN.2016101108. doi:10.1681/ASN.2016101108. [Epub ahead of print] PMID: 28348065

GWAS for serum galactose-deficient IgA1 implicates critical genes of the O-glycosylation pathway. Kiryluk K, Li Y, Moldoveanu Z, Suzuki H, Reily C, Hou P, Xie J, Mladkova N, Prakash S, Fischman C, Shapiro S, LeDesma RA, Bradbury D, Ionita-Laza I, Eitner F, Rauen T, Maillard N, Berthoux F, Floege J, Chen N, Zhang H, Scolari F, Wyatt RJ, Julian BA, Gharavi AG, Novak J. PLoS Genet. 2017 Feb 10;13(2):e1006609. doi: 10.1371/journal.pgen.1006609. eCollection 2017 Feb. PMID: 28187132

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome. Lopez-Rivera E, Liu YP, Verbitsky M, Anderson BR, Capone VP, Otto EA, Yan Z, Mitrotti A, Martino J, Steers NJ, Fasel DA, Vukojevic K, Deng R, Racedo SE, Liu Q, Werth M, Westland R, Vivante A, Makar GS, Bodria M, Sampson MG, Gillies CE, Vega-Warner V, Maiorana M, Petrey DS, Honig B, Lozanovski VJ, Salomon R, Heidet L, Carpentier W, Gaillard D, Carrea A, Gesualdo L, Cusi D, Izzi C, Scolari F, van Wijk JA, Arapovic A, Saraga-Babic M, Saraga M, Kunac N, Samii A, McDonald-McGinn DM, Crowley TB, Zackai EH, Drozdz D, Miklaszewska M, Tkaczyk M, Sikora P, Szczepanska M, Mizerska-Wasiak M, Krzemien G, Szmigielska A, Zaniew M, Darlow JM, Puri P, Barton D, Casolari E, Furth SL, Warady BA, Gucev Z, Hakonarson H, Flogelova H, Tasic V, Latos-Bielenska A, Materna-Kiryluk A, Allegri L, Wong CS, Drummond IA, D'Agati V, Imamoto A, Barasch JM, Hildebrandt F, Kiryluk K, Lifton RP, Morrow BE, Jeanpierre C, Papaioannou VE, Ghiggeri GM, Gharavi AG, Katsanis N, Sanna-Cherchi S. N Engl J Med. 2017 Feb 23;376(8):742-754. doi: 10.1056/NEJMoa1609009. Epub 2017 Jan 25. PMID: 28121514

Somatic Mutations Modulate Autoantibodies against Galactose-Deficient IgA1 in IgA Nephropathy. Huang ZQ, Raska M, Stewart TJ, Reily C, King RG, Crossman DK, Crowley MR, Hargett A, Zhang Z, Suzuki H, Hall S, Wyatt RJ, Julian BA, Renfrow MB, Gharavi AG, Novak J. J Am Soc Nephrol. 2016 Mar 10. PMID: 26966014

Fine Mapping Implicates a Deletion of CFHR1 and CFHR3 in Protection from IgA Nephropathy in Han Chinese. Xie J, Kiryluk K, Li Y, Mladkova N, Zhu L, Hou P, Ren H, Wang W, Zhang H, Chen N, Gharavi AG. J Am Soc Nephrol. 2016 Mar 3. PMID: 26940089

Genome-wide association study in mice identifies loci affecting liver-related phenotypes including Sel1l influencing serum bile acids. Wu W, Patel A, Kyöstilä K, Lohi H, Mladkova N, Kiryluk K, Sun X, Lefkowitch JH, Worman HJ, Gharavi AG. Hepatology. 2016 Jun;63(6):1943-56. PMID: 26857093

Diagnosing kidney disease in the genetic era. Prakash S, Gharavi AG. Curr Opin Nephrol Hypertens. 2015 Jul;24(4):380-7. PMID: 26050126

Genomic imbalances in pediatric patients with chronic kidney disease. Verbitsky M, Sanna-Cherchi S, Fasel DA, Levy B, Kiryluk K, Wuttke M, Abraham AG, Kaskel F, Köttgen A, Warady BA, Furth SL, Wong CS, Gharavi AG. J Clin Invest. 2015 Apr 20. pii: 80877. doi: 10.1172/JCI80877.

Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens. Kiryluk K, Li Y, Scolari F, Sanna-Cherchi S, Choi M, Verbitsky M, Fasel D, Lata S, Prakash S, Shapiro S, Fischman C, Snyder HJ, Appel G, Izzi C, Viola BF, Dallera N, Del Vecchio L, Barlassina C, Salvi E, Bertinetto FE, Amoroso A, Savoldi S, Rocchietti M, Amore A, Peruzzi L, Coppo R, Salvadori M, Ravani P, Magistroni R, Ghiggeri GM, Caridi G, Bodria M, Lugani F, Allegri L, Delsante M, Maiorana M, Magnano A, Frasca G, Boer E, Boscutti G, Ponticelli C, Mignani R, Marcantoni C, Di Landro D, Santoro D, Pani A, Polci R, Feriozzi S, Chicca S, Galliani M, Gigante M, Gesualdo L, Zamboli P, Battaglia GG, Garozzo M, Maixnerová D, Tesar V, Eitner F, Rauen T, Floege J, Kovacs T, Nagy J, Mucha K, Pączek L, Zaniew M, Mizerska-Wasiak M, Roszkowska-Blaim M, Pawlaczyk K, Gale D, Barratt J, Thibaudin L, Berthoux F, Canaud G, Boland A, Metzger M, Panzer U, Suzuki H, Goto S, Narita I, Caliskan Y, Xie J, Hou P, Chen N, Zhang H, Wyatt RJ, Novak J, Julian BA, Feehally J, Stengel B, Cusi D, Lifton RP, Gharavi AG. Nat Genet. 2014 Oct 12. doi: 10.1038/ng.3118.

Mutations in DSTYK and Dominant Urinary Tract Malformations. Sanna-Cherchi S, Sampogna RV, Papeta N, Burgess KE, Nees SN, Perry BJ, Choi M, Bodria M, Liu Y, Weng PL, Lozanovski VJ, Verbitsky M, Lugani F, Sterken R, Paragas N, Caridi G, Carrea A, Dagnino M, Materna-Kiryluk A, Santamaria G, Murtas C, Ristoska-Bojkovska N, Izzi C, Kacak N, Bianco B, Giberti S, Gigante M, Piaggio G, Gesualdo L, Vukic DK, Vukojevic K, Saraga-Babic M, Saraga M, Gucev Z, Allegri L, Latos-Bielenska A, Casu D, State M, Scolari F, Ravazzolo R, Kiryluk K, Al-Awqati Q, D'Agati VD, Drummond IA, Tasic V, Lifton RP, Ghiggeri GM, Gharavi AG.  N Engl J Med. 2013 Jul 17.

Pathogenesis of immunoglobulin A nephropathy: recent insight from genetic studies. Kiryluk K, Novak J, Gharavi AG.  Annu Rev Med. 2013; 64:339-56

A Retrotransposon Insertion in the 5' Regulatory Domain of Ptf1a Results in Ectopic Gene Expression and Multiple Congenital Defects in Danforth's Short Tail Mouse. Lugani F, Arora R, Papeta N, Patel A, Zheng Z, Sterken R, Singer RA, Caridi G, Mendelsohn C, Sussel L, Papaioannou VE, Gharavi AG. PLoS Genet. 2013; 9(2):e1003206.

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.   Am J Hum Genet. 2012; 91(6):987-97.

Geographic Differences in Genetic Susceptibility to IgA Nephropathy: GWAS Replication Study and Geospatial Risk Analysis. Kiryluk K, Li Y, Sanna-Cherchi S, Rohanizadegan M, Suzuki H, Eitner, Snyder HJ, Choi M, Hou P, Scolari F, Izzi C, Gigante M, Gesualdo L, Savoldi S, Amoroso A, Cusi D, Zamboli P, Julian BA, Novak J, Wyatt RJ, Mucha K, Perola M, KristianssonK, Magnusson PK, Viktorin A, Thorsteinsdottir U, Thorleifsson G, Stefansson K, Boland A, Metzger M, Thibaudin L, Wanner C, Jager KJ, Goto S, Maixnerova D, Karnib HH, Nagy J, Panzer U, Xie J, Chen N, Tesar V, Narita I, Berthoux F, Floege J, Stengel B, Zhang H, Lifton RP, Gharavi AG..  PloS Genetics, 2012; 8(6):e1002765 

Predicting Progression of IgA Nephropathy:  A New Clinical Progression Risk Score. Xie, J, Kiryluk, K, Wang, W, Wang, Z, Shen, P, Ren, H,  Pan, X, Guo, S, Chen, X,  Zhang, W,  Li,X, Shi, H, Li, Y, Gharavi, A.G,  Chen, N. . PloS One, 2012; 7(6):e38904

Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. Boyden LM, Choi M, Choate KA, Nelson-Williams CJ, Farhi A, Toka H, Tikhonova I, Mane S, Colussi G, Lebel M, Gordon RD, Semmekrot BA, Mendoza SA, Poujol A, Matti J Välimäki MJ, Ader JL, Rombolà G, Sanjad SA, Gutkin M, Karet FE,  Tucci JR, Stockigt JR, Berland Y, Moult PJA, Keppler-Noreuil KM, Porter GC, Erdoğan G, Erdoğan MF, A. Kamel N, Hessing S,  Anand SK, Burnett CM, Misselwitz J, Whiteford ML, Davis ID, Bettinelli A, Fadrowski JJ, Belsha GW, Huntle TE, Nelson RD, Trachtman H, Cole TRP, Pinsk M, Bockenhauer D, Shenoy M, Vaidyanathan P, Foreman JW, Rasoulpour M, Al-Shahrouri H, Gharavi AG, Goilav B, & Lifton RP. Nature 2012 J; 482:98-102

Reversible cell cycle entry in adult kidney podocytes through regulated control of telomerase and Wnt signaling. Shkreli M., Sarin KL, Pech MF, Papeta N, Chang W, Cheung P, Lee E., Kuhnert F, Olson JL, Kuo CJ, Gharavi AG, D’Agati VD, Steven E. Artandi SE.  .  Nat. Medicine 2011; 18:111-119 

APOL1 Genetic Variants Significantly Increase Susceptibility to FSGS and HIVAN but not IgA Nephropathy in African Americans. Papeta N, Kiryluk K, Patel A, Sterken R, Kacak N, Snyder HJ, Imus PH, Mhatre AN, Lawani AK, Julian  BA, Wyatt RJ, Novak J, Wyatt CM, Ross MJ, Winston JA, Klotman ME, Cohen DJ, Appel GB, D’Agati VD, Klotman PE, Gharavi AG. . J Am Soc Nephrol. 2011, 22:1991-6 

The Pathophysiology of IgA Nephropathy. Suzuki H, Kiryluk K, Novak J; Moldoveanu Z, Herr AB, Renfrow MB, Wyatt RJ, Francesco Scolari F,  Mestecky J, Gharavi AG; Julian BA.. J Am Soc Nephrol. 2011; 22:1795-803 

Oxidative stress and galactose-deficient IgA1 as markers of progression in IgA nephropathy. Camilla R, Suzuki H, Daprà V, Loiacono E, Peruzzi L, Amore A, Ghiggeri GM, Mazzucco G, Scolari F, Gharavi AG, Appel GB, Troyanov S, Novak J, Julian BA, Coppo R. . Clin J Am Soc Nephrol. 2011; 6:1903-11. 

Identification of the Nephropathy-Susceptibility Locus HIVAN4. Prakash S., Papeta N, Sterken R, Zheng Z, Thomas RL, Wu Z, Sedor JR, D’Agati VD, Bruggeman LA, Gharavi AG . J Am Soc Nephrol. 2011; 22:1497-504 

Exome Sequencing Identifies MYO1E and NEIL1 as Candidate Genes for Human Autosomal Recessive Steroid Resistant Nephrotic Syndrome. Sanna-Cherchi S., Burgess KE, Nees SN, Caridi G, Weng PL, Dagnino M, M, Carrea A, Allegretta MA, Kim HR, Perry BJ, Gigante M, Clark LN, Kisselev S, Cusi D, Loreto Gesualdo L, Allegri L, Scolari F, D’Agati VD, Shapiro LS, Pecoraro C, Palomero T, Ghiggeri GM, Gharavi AG.. Kidney International 2011; 80(4):389-96 

Genome wide association study identifies susceptibility loci for IgA nephropathy. Gharavi AG, Kiryluk K, Choi M, Li Y, Hou P, Xie J, Sanna-Cherchi S, Men CJ, Julian BA, Wyatt RJ, Novak J, He JC, Wang H, Lv J, Zhu L, Wang W, Wang Z, Yasuno K, Gunel M, Mane S, Umlauf S, Tikhonova I, Beerman I, Savoldi S, Magistroni R, Ghiggeri GM, Bodria M, Lugani F, Ravani P, Ponticelli C, Allegri L, Boscutti G, Frasca G, Amore A, Peruzzi L, Coppo R, Izzi C, Viola BF, Prati E, Salvadori M, Mignani R, Gesualdo L, Bertinetto F, Mesiano P, Amoroso A, Scolari F, Chen N, Zhang H, Lifton RP. . Nat. Genetics 2011; 43: 321–327 

Aberrant Glycosylation of IgA1 Is Inherited in Pediatric IgA Nephropathy and Henoch-Schönlein Purpura Nephritis. Kiryluk K, Moldoveanu Z, Sanders JT, Eison TM, Suzuki H, Julian BA, Novak J, Gharavi AG, Wyatt RJ. . Kidney International 2011; 80:79-87. 

HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort. Thomas R, Sanna-Cherchi S, Warady BA, Furth SL, Kaskel FJ, Gharavi AG. Pediatr Nephrol. 2011; 26:897-903 

The Molecular Pathogenesis of HIV-1 Associated Nephropathy: Recent Advances. Papeta N, Sterken R, Kiryluk K, Kalyesubula R, Gharavi AG. Journal of Molecular Medicine 2011; 89:429-36 

Genetic studies of IgA nephropathy: past, present, and future. Kiryluk K, Julian BA, Wyatt RJ, Scolari F, Zhang H, Novak J, Gharavi AG. Pediatr Nephrol. 2010 Nov; 25(11):2257-68.

Prkdc participates in mitochondrial genome maintenance and prevents Adriamycin-induced nephropathy in mice. Papeta N, Zheng Z, Schon E, Brosel S, Altintas M, Nasr SH, Reiser J, D’Agati V, Gharavi AG. J Clin Invest. 2010; 120:4055-6 

A susceptibility gene for kidney disease in an obese mouse model of type II diabetes maps to chromosome 8. Chua S, Li Y, Liu SM, Liu R, Chan KT, Martino J, Zheng Z, Susztak K, D'Agati VD, Gharavi AG. Kidney International 2010; 78:453-62. 

A Recessive Gene for Primary Vesicoureteral Reflux Maps to Chromosome 12p11-q13.  Weng PL , Sanna-Cherchi S, Hensle T, Shapiro E, Werzberger A, Konka A, Caridi G, Izzi C, Werzberger S, Burk R, Lee JH, Scolari F, Ravazzolo R, Ghiggeri GM, Glassberg K, Gharavi AG. J Am Soc Nephrol 2009; 20:1633-40. 

Susceptibility loci for murine HIV-associated nephropathy encode trans-regulators of podocyte gene expression. Papeta N, Chan KT, Prakash S, Martino J, Kiryluk K, Ballard D, Bruggeman LA, Frankel R, Zheng Z, Klotman PE, Zhao H, D'Agati VD, Lifton RP,Gharavi AG. J Clin Invest. 2009; 1178-88 

Accelerated Development of Collapsing Glomerulopathy in Mice Congenic for the HIVAN1 locus on chr 3A1-A3. Chan KT, Papeta N, Martino J, Zheng Z, Frankel RZ, Klotman PE, D'Agati VD, Lifton RP, Gharavi AG.  Kidney International 2009; 75:366-72

Genetic Approaches To Human Renal Agenesis/ Hypoplasia. Sanna-Cherchi S, Caridi G, Francesco Scolari F, Perfumo F, Gharavi AG, Ghiggeri GM. Ped. Nephrology 2007; 22: 1675-84

Aberrant IgA1 Glycosylation is Inherited in Familial and Sporadic IgA Nephropathy. Gharavi AG, Moldoveanu Z, Wyatt RJ, Barker CV,  Woodford SY, Lifton RP, Mestecky J, Novak J, Julian BA.  J Am Soc Nephrol 2008; 19: 1008-14 

Genetics of IgA Nephropathy. Beerman, I, Novak J, Wyatt R, Julian B Gharavi AG.   Nat Clin Pract Nephrol. 2007; 3:325-38 

Sanna-Cherchi S, Caridi G, Weng PL, Dagnino M, Seri M, Konka A, Somenzi D, Izzi C, Casu D, Allegri L, Scolari F, Ravazzolo R, Ghiggeri GM, Gharavi AG. Localization Of A Gene For Non-Syndromic Renal Hypodysplasia To Chromosome 1p32-33Am J Hum Genet 2007; 80:539-49 

Characterization of Large Lebanese Kindred Segregating IgA Nephropathy. Karnib HH , Sanna-Cherchi S, Zalloua P., Medawar W., D’Agati VD, Lifton RP., Badr K, Gharavi AG.  Nephr. Dial. Transplant. 2007; 22:772-777. 

An Ancestral Haplotype Defines Susceptibility To Doxorubicin Nephropathy In The Mouse. Zheng Z, Pavlidis P., Chua S,D’ Agati VD, Gharavi AG.  J Am Soc Nephrol 2006; 17:1796-800 

Familial Aggregation of Primary Glomerulonephritis in an Italian Population Isolate: the Valtrompia Study. C Izzi, S Sanna-Cherchi, E Prati, D Beller , A Remedi , R Tardanic , M Foramitt , S Guerini, B Viol , G Brunori, E Movilli, I Beerman, R Lifton, P Paterlini, C Della Torre, L Leone, Gharavi AG, Scolari F. Kidney International 2006; 69:1033-40

Familial Vesicoureteral Reflux:  Testing Replication of Linkage in Seven New Multigenerational Kindreds. Sanna-Cherchi S, Reese A, Hensle T, Caridi G, Izzi C, KimYY, Murer L, Scolari F, Ravazzolo R, Ghiggeri GM, Gharavi AG. J Am Soc Nephrol 2005;16:1781-7 

A Mendelian Locus on Chromosome 16 Determines Susceptibility to Doxorubicin Nephropathy In The Mouse. Zheng Z,  Ott-Schmitt K, Chua S., Foster K A., Frankel R Z., Barasch J,  Pavlidis P., D’ Agati VD, Gharavi AG.   Proc Natl Acad Sci U S A.  2005;102:2502-2507

Mutations in SEC63 cause autosomal dominant polycystic liver disease and implicate posttranslational modification pathways in epithelial cyst formation. Davila S., Furu L., Gharavi AG, Tian X., Onoe T., Qian Q, Li A., Kamath PS, King BF, Azurmendi PJ, Tahvanainen, Kääriäinen H, Höckerstedt K, Devuyst O, Pirson Y, Martin R, Lifton R, Tahvanainen E, Torres V, Somlo S. Nat. Genetics 2004; 36:575-7 

Mapping a Locus (HIVAN1) for Susceptibility to HIV-1 Associated Nephropathy to Mouse Chromosome 3. Gharavi AG, Ahmad T, Wong RD, Hooshyar R, Vaughn J, Oller S, Frankel RZ , Bruggeman LA , D'Agati VD , Klotman PE , and Lifton RP.  Proc Natl Acad Sci U S A.  2004; 101:2488-2493 

Molecular mechanisms of human hypertension. Lifton, RP, Gharavi, AG, Geller DS.  Cell 2001; 104,545-556. 

IgA nephropathy, the most common cause of glomerulonephritis, is linked to 6q22-23. Gharavi AG, Yan Y, Scolari F, Schena FP, Frasca GM, Giggheri  GM, Cooper K, Amoroso A, Viola BF, Battini G, Caridi G, Canova C, Farhi A, Subramanian V, Nelson-Williams C, Woodford S, Julian BA,Wyatt RJ, Lifton RP. Nat. Genetics 2000; 26:354-357

See a complete list of publications in Pubmed.