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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. Among authors: tasic v. 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.
Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Weber S, Schneider L, Peters M, Misselwitz J, Rönnefarth G, Böswald M, Bonzel KE, Seeman T, Suláková T, Kuwertz-Bröking E, Gregoric A, Palcoux JB, Tasic V, Manz F, Schärer K, Seyberth HW, Konrad M. Weber S, et al. Among authors: tasic v. J Am Soc Nephrol. 2001 Sep;12(9):1872-1881. doi: 10.1681/ASN.V1291872. J Am Soc Nephrol. 2001. PMID: 11518780
CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Konrad M, Hou J, Weber S, Dötsch J, Kari JA, Seeman T, Kuwertz-Bröking E, Peco-Antic A, Tasic V, Dittrich K, Alshaya HO, von Vigier RO, Gallati S, Goodenough DA, Schaller A. Konrad M, et al. Among authors: tasic v. J Am Soc Nephrol. 2008 Jan;19(1):171-81. doi: 10.1681/ASN.2007060709. Epub 2007 Nov 14. J Am Soc Nephrol. 2008. PMID: 18003771 Free PMC article.
Missense mutations in EYA1 and TCF2 are a rare cause of urinary tract malformations.
Hoskins BE, Cramer CH 2nd, Tasic V, Kehinde EO, Ashraf S, Bogdanovic R, Hoefele J, Pohl M, Hildebrandt F. Hoskins BE, et al. Among authors: tasic v. Nephrol Dial Transplant. 2008 Feb;23(2):777-9. doi: 10.1093/ndt/gfm685. Epub 2007 Dec 8. Nephrol Dial Transplant. 2008. PMID: 18065799 No abstract available.
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: tasic v. 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.
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: tasic v. 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.
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association.
Saisawat P, Kohl S, Hilger AC, Hwang DY, Yung Gee H, Dworschak GC, Tasic V, Pennimpede T, Natarajan S, Sperry E, Matassa DS, Stajić N, Bogdanovic R, de Blaauw I, Marcelis CL, Wijers CH, Bartels E, Schmiedeke E, Schmidt D, Märzheuser S, Grasshoff-Derr S, Holland-Cunz S, Ludwig M, Nöthen MM, Draaken M, Brosens E, Heij H, Tibboel D, Herrmann BG, Solomon BD, de Klein A, van Rooij IA, Esposito F, Reutter HM, Hildebrandt F. Saisawat P, et al. Among authors: tasic v. Kidney Int. 2014 Jun;85(6):1310-7. doi: 10.1038/ki.2013.417. Epub 2013 Oct 23. Kidney Int. 2014. PMID: 24152966 Free PMC article.
231 results