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Page 1
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. Sanna-Cherchi S, et al. Among authors: sterken r. N Engl J Med. 2013 Aug 15;369(7):621-9. doi: 10.1056/NEJMoa1214479. Epub 2013 Jul 17. N Engl J Med. 2013. PMID: 23862974 Free PMC 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. Among authors: sterken r. 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.
Genomic Mismatch at LIMS1 Locus and Kidney Allograft Rejection.
Steers NJ, Li Y, Drace Z, D'Addario JA, Fischman C, Liu L, Xu K, Na YJ, Neugut YD, Zhang JY, Sterken R, Balderes O, Bradbury D, Ozturk N, Ozay F, Goswami S, Mehl K, Wold J, Jelloul FZ, Rohanizadegan M, Gillies CE, Vasilescu EM, Vlad G, Ko YA, Mohan S, Radhakrishnan J, Cohen DJ, Ratner LE, Scolari F, Susztak K, Sampson MG, Deaglio S, Caliskan Y, Barasch J, Courtney AE, Maxwell AP, McKnight AJ, Ionita-Laza I, Bakker SJL, Snieder H, de Borst MH, D'Agati V, Amoroso A, Gharavi AG, Kiryluk K. Steers NJ, et al. Among authors: sterken r. N Engl J Med. 2019 May 16;380(20):1918-1928. doi: 10.1056/NEJMoa1803731. N Engl J Med. 2019. PMID: 31091373 Free PMC article.
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. Prakash S, et al. Among authors: sterken r. J Am Soc Nephrol. 2011 Aug;22(8):1497-504. doi: 10.1681/ASN.2011020209. Epub 2011 Jul 22. J Am Soc Nephrol. 2011. PMID: 21784893 Free PMC article.
APOL1 variants increase risk for FSGS and HIVAN but not IgA nephropathy.
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. Papeta N, et al. Among authors: sterken r. J Am Soc Nephrol. 2011 Nov;22(11):1991-6. doi: 10.1681/ASN.2011040434. Epub 2011 Oct 13. J Am Soc Nephrol. 2011. PMID: 21997397 Free PMC article.
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. Lugani F, et al. Among authors: sterken r. PLoS Genet. 2013;9(2):e1003206. doi: 10.1371/journal.pgen.1003206. Epub 2013 Feb 21. PLoS Genet. 2013. PMID: 23437001 Free PMC article.
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