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Page 1
Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD.
Taskiran EZ, Korkmaz E, Gucer S, Kosukcu C, Kaymaz F, Koyunlar C, Bryda EC, Chaki M, Lu D, Vadnagara K, Candan C, Topaloglu R, Schaefer F, Attanasio M, Bergmann C, Ozaltin F. Taskiran EZ, et al. Among authors: attanasio m. J Am Soc Nephrol. 2014 Aug;25(8):1653-61. doi: 10.1681/ASN.2013060646. Epub 2014 Mar 7. J Am Soc Nephrol. 2014. PMID: 24610927 Free PMC article.
DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN.
Ozaltin F, Li B, Rauhauser A, An SW, Soylemezoglu O, Gonul II, Taskiran EZ, Ibsirlioglu T, Korkmaz E, Bilginer Y, Duzova A, Ozen S, Topaloglu R, Besbas N, Ashraf S, Du Y, Liang C, Chen P, Lu D, Vadnagara K, Arbuckle S, Lewis D, Wakeland B, Quigg RJ, Ransom RF, Wakeland EK, Topham MK, Bazan NG, Mohan C, Hildebrandt F, Bakkaloglu A, Huang CL, Attanasio M. Ozaltin F, et al. Among authors: attanasio m. J Am Soc Nephrol. 2013 Feb;24(3):377-84. doi: 10.1681/ASN.2012090903. Epub 2012 Dec 28. J Am Soc Nephrol. 2013. PMID: 23274426 Free PMC article.
Loss of diacylglycerol kinase epsilon in mice causes endothelial distress and impairs glomerular Cox-2 and PGE2 production.
Zhu J, Chaki M, Lu D, Ren C, Wang SS, Rauhauser A, Li B, Zimmerman S, Jun B, Du Y, Vadnagara K, Wang H, Elhadi S, Quigg RJ, Topham MK, Mohan C, Ozaltin F, Zhou XJ, Marciano DK, Bazan NG, Attanasio M. Zhu J, et al. Among authors: attanasio m. Am J Physiol Renal Physiol. 2016 May 1;310(9):F895-908. doi: 10.1152/ajprenal.00431.2015. Epub 2016 Feb 17. Am J Physiol Renal Physiol. 2016. PMID: 26887830 Free PMC article.
Recently, we and others have described a genetic form of TMA caused by mutations in the gene diacylglycerol kinase-epsilon (DGKE) that encodes the lipid kinase DGKepsilon (Lemaire M, Fremeaux-Bacchi V, Schaefer F, Choi MR, Tang WH, Le Quintrec M, Fakhouri F, Taque S …
Recently, we and others have described a genetic form of TMA caused by mutations in the gene diacylglycerol kinase-epsilon (DGKE) that encod …
Evidence of oligogenic inheritance in nephronophthisis.
Hoefele J, Wolf MT, O'Toole JF, Otto EA, Schultheiss U, Dêschenes G, Attanasio M, Utsch B, Antignac C, Hildebrandt F. Hoefele J, et al. Among authors: attanasio m. J Am Soc Nephrol. 2007 Oct;18(10):2789-95. doi: 10.1681/ASN.2007020243. Epub 2007 Sep 12. J Am Soc Nephrol. 2007. PMID: 17855640
Hedgehog signaling indirectly affects tubular cell survival after obstructive kidney injury.
Rauhauser AA, Ren C, Lu D, Li B, Zhu J, McEnery K, Vadnagara K, Zepeda-Orozco D, Zhou XJ, Lin F, Jetten AM, Attanasio M. Rauhauser AA, et al. Among authors: attanasio m. Am J Physiol Renal Physiol. 2015 Nov 1;309(9):F770-8. doi: 10.1152/ajprenal.00232.2015. Epub 2015 Aug 19. Am J Physiol Renal Physiol. 2015. PMID: 26290370 Free PMC article.
Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies.
Gee HY, Otto EA, Hurd TW, Ashraf S, Chaki M, Cluckey A, Vega-Warner V, Saisawat P, Diaz KA, Fang H, Kohl S, Allen SJ, Airik R, Zhou W, Ramaswami G, Janssen S, Fu C, Innis JL, Weber S, Vester U, Davis EE, Katsanis N, Fathy HM, Jeck N, Klaus G, Nayir A, Rahim KA, Al Attrach I, Al Hassoun I, Ozturk S, Drozdz D, Helmchen U, O'Toole JF, Attanasio M, Lewis RA, Nürnberg G, Nürnberg P, Washburn J, MacDonald J, Innis JW, Levy S, Hildebrandt F. Gee HY, et al. Among authors: attanasio m. Kidney Int. 2014 Apr;85(4):880-7. doi: 10.1038/ki.2013.450. Epub 2013 Nov 20. Kidney Int. 2014. PMID: 24257694 Free PMC article.
A splice site mutation in the TSEN2 causes a new syndrome with craniofacial and central nervous system malformations, and atypical hemolytic uremic syndrome.
Canpolat N, Liu D, Atayar E, Saygili S, Kara NS, Westfall TA, Ding Q, Brown BJ, Braun TA, Slusarski D, Karli Oguz K, Ozluk Y, Tuysuz B, Tastemel Ozturk T, Sever L, Sezerman OU, Topaloglu R, Caliskan S, Attanasio M, Ozaltin F. Canpolat N, et al. Among authors: attanasio m. Clin Genet. 2022 Mar;101(3):346-358. doi: 10.1111/cge.14105. Epub 2022 Jan 7. Clin Genet. 2022. PMID: 34964109 Free PMC article.
Nephronophthisis: disease mechanisms of a ciliopathy.
Hildebrandt F, Attanasio M, Otto E. Hildebrandt F, et al. Among authors: attanasio m. J Am Soc Nephrol. 2009 Jan;20(1):23-35. doi: 10.1681/ASN.2008050456. Epub 2008 Dec 31. J Am Soc Nephrol. 2009. PMID: 19118152 Free PMC article. Review.
165 results