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Best matches for O’Toole JF[au]:

The Cell Biology of APOL1. O'Toole JF et al. Semin Nephrol. (2017)

Identifying the Intracellular Function of APOL1. Bruggeman LA et al. J Am Soc Nephrol. (2017)

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Chaki M et al. Cell. (2012)

Search results

Items: 40

1.

APOL1 polymorphisms and kidney disease: loss-of-function or gain-of-function?

Bruggeman LA, O'Toole JF, Sedor JR.

Am J Physiol Renal Physiol. 2019 Jan 1;316(1):F1-F8. doi: 10.1152/ajprenal.00426.2018. Epub 2018 Oct 17.

PMID:
30332315
2.

Willingness to Participate in a National Precision Medicine Cohort: Attitudes of Chronic Kidney Disease Patients at a Cleveland Public Hospital.

Cooke Bailey JN, Crawford DC, Goldenberg A, Slaven A, Pencak J, Schachere M, Bush WS, Sedor JR, O'Toole JF.

J Pers Med. 2018 Jun 26;8(3). pii: E21. doi: 10.3390/jpm8030021.

3.

CKD, Genetic Variation, and the Epigenome: Decrypting the Code.

O'Toole JF, Sedor JR.

Am J Kidney Dis. 2018 Aug;72(2):164-167. doi: 10.1053/j.ajkd.2018.03.012. Epub 2018 May 2. No abstract available.

PMID:
29728315
4.

ApoL1 Overexpression Drives Variant-Independent Cytotoxicity.

O'Toole JF, Schilling W, Kunze D, Madhavan SM, Konieczkowski M, Gu Y, Luo L, Wu Z, Bruggeman LA, Sedor JR.

J Am Soc Nephrol. 2018 Mar;29(3):869-879. doi: 10.1681/ASN.2016121322. Epub 2017 Nov 27.

5.

The Cell Biology of APOL1.

O'Toole JF, Bruggeman LA, Madhavan S, Sedor JR.

Semin Nephrol. 2017 Nov;37(6):538-545. doi: 10.1016/j.semnephrol.2017.07.007. Review.

6.

APOL1 and Proteinuria in the AASK: Unraveling the Pathobiology of APOL1.

O'Toole JF, Bruggeman LA, Sedor JR.

Clin J Am Soc Nephrol. 2017 Nov 7;12(11):1723-1725. doi: 10.2215/CJN.10680917. Epub 2017 Oct 19. No abstract available.

7.

A New Mouse Model of APOL1-Associated Kidney Diseases: When Traffic Gets Snarled, the Podocyte Suffers.

O'Toole JF, Bruggeman LA, Sedor JR.

Am J Kidney Dis. 2017 Oct;70(4):460-463. doi: 10.1053/j.ajkd.2017.07.002. Epub 2017 Aug 9. No abstract available.

PMID:
28801123
8.

APOL1 variants change C-terminal conformational dynamics and binding to SNARE protein VAMP8.

Madhavan SM, O'Toole JF, Konieczkowski M, Barisoni L, Thomas DB, Ganesan S, Bruggeman LA, Buck M, Sedor JR.

JCI Insight. 2017 Jul 20;2(14). pii: 92581. doi: 10.1172/jci.insight.92581. eCollection 2017 Jul 20.

9.

Identifying the Intracellular Function of APOL1.

Bruggeman LA, O'Toole JF, Sedor JR.

J Am Soc Nephrol. 2017 Apr;28(4):1008-1011. doi: 10.1681/ASN.2016111262. Epub 2017 Feb 14. No abstract available.

10.

APOL1-G0 or APOL1-G2 Transgenic Models Develop Preeclampsia but Not Kidney Disease.

Bruggeman LA, Wu Z, Luo L, Madhavan SM, Konieczkowski M, Drawz PE, Thomas DB, Barisoni L, Sedor JR, O'Toole JF.

J Am Soc Nephrol. 2016 Dec;27(12):3600-3610. Epub 2016 Mar 29.

11.

Integrative Genomics Identifies Novel Associations with APOL1 Risk Genotypes in Black NEPTUNE Subjects.

Sampson MG, Robertson CC, Martini S, Mariani LH, Lemley KV, Gillies CE, Otto EA, Kopp JB, Randolph A, Vega-Warner V, Eichinger F, Nair V, Gipson DS, Cattran DC, Johnstone DB, O'Toole JF, Bagnasco SM, Song PX, Barisoni L, Troost JP, Kretzler M, Sedor JR; Nephrotic Syndrome Study Network.

J Am Soc Nephrol. 2016 Mar;27(3):814-23. doi: 10.1681/ASN.2014111131. Epub 2015 Jul 6.

12.

Kidney disease: new technologies translate mechanisms to cure.

O'Toole JF, Sedor JR.

J Clin Invest. 2014 Jun;124(6):2294-8. doi: 10.1172/JCI76825. Epub 2014 Jun 2. Review.

13.

Renal manifestations of genetic mitochondrial disease.

O'Toole JF.

Int J Nephrol Renovasc Dis. 2014 Jan 31;7:57-67. doi: 10.2147/IJNRD.S37887. eCollection 2014. Review.

14.

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.

Kidney Int. 2014 Apr;85(4):880-7. doi: 10.1038/ki.2013.450. Epub 2013 Nov 20.

15.
16.

Plasma apolipoprotein L1 levels do not correlate with CKD.

Bruggeman LA, O'Toole JF, Ross MD, Madhavan SM, Smurzynski M, Wu K, Bosch RJ, Gupta S, Pollak MR, Sedor JR, Kalayjian RC.

J Am Soc Nephrol. 2014 Mar;25(3):634-44. doi: 10.1681/ASN.2013070700. Epub 2013 Nov 14.

17.
18.

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.

Chaki M, Airik R, Ghosh AK, Giles RH, Chen R, Slaats GG, Wang H, Hurd TW, Zhou W, Cluckey A, Gee HY, Ramaswami G, Hong CJ, Hamilton BA, Cervenka I, Ganji RS, Bryja V, Arts HH, van Reeuwijk J, Oud MM, Letteboer SJ, Roepman R, Husson H, Ibraghimov-Beskrovnaya O, Yasunaga T, Walz G, Eley L, Sayer JA, Schermer B, Liebau MC, Benzing T, Le Corre S, Drummond I, Janssen S, Allen SJ, Natarajan S, O'Toole JF, Attanasio M, Saunier S, Antignac C, Koenekoop RK, Ren H, Lopez I, Nayir A, Stoetzel C, Dollfus H, Massoudi R, Gleeson JG, Andreoli SP, Doherty DG, Lindstrad A, Golzio C, Katsanis N, Pape L, Abboud EB, Al-Rajhi AA, Lewis RA, Omran H, Lee EY, Wang S, Sekiguchi JM, Saunders R, Johnson CA, Garner E, Vanselow K, Andersen JS, Shlomai J, Nurnberg G, Nurnberg P, Levy S, Smogorzewska A, Otto EA, Hildebrandt F.

Cell. 2012 Aug 3;150(3):533-48. doi: 10.1016/j.cell.2012.06.028.

19.

APOL1 localization in normal kidney and nondiabetic kidney disease.

Madhavan SM, O'Toole JF, Konieczkowski M, Ganesan S, Bruggeman LA, Sedor JR.

J Am Soc Nephrol. 2011 Nov;22(11):2119-28. doi: 10.1681/ASN.2011010069. Epub 2011 Oct 13.

20.

Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.

Sang L, Miller JJ, Corbit KC, Giles RH, Brauer MJ, Otto EA, Baye LM, Wen X, Scales SJ, Kwong M, Huntzicker EG, Sfakianos MK, Sandoval W, Bazan JF, Kulkarni P, Garcia-Gonzalo FR, Seol AD, O'Toole JF, Held S, Reutter HM, Lane WS, Rafiq MA, Noor A, Ansar M, Devi AR, Sheffield VC, Slusarski DC, Vincent JB, Doherty DA, Hildebrandt F, Reiter JF, Jackson PK.

Cell. 2011 May 13;145(4):513-28. doi: 10.1016/j.cell.2011.04.019.

21.

Are cubilin (CUBN) variants at the heart of urinary albumin excretion?

O'Toole JF, Sedor JR.

J Am Soc Nephrol. 2011 Mar;22(3):404-6. doi: 10.1681/ASN.2011010097. Epub 2011 Mar 3. No abstract available.

22.

Disorders of calcium metabolism.

O'Toole JF.

Nephron Physiol. 2011;118(1):p22-7. doi: 10.1159/000320884. Epub 2010 Nov 11. Review.

PMID:
21071984
23.

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy.

O'Toole JF, Liu Y, Davis EE, Westlake CJ, Attanasio M, Otto EA, Seelow D, Nurnberg G, Becker C, Nuutinen M, Kärppä M, Ignatius J, Uusimaa J, Pakanen S, Jaakkola E, van den Heuvel LP, Fehrenbach H, Wiggins R, Goyal M, Zhou W, Wolf MT, Wise E, Helou J, Allen SJ, Murga-Zamalloa CA, Ashraf S, Chaki M, Heeringa S, Chernin G, Hoskins BE, Chaib H, Gleeson J, Kusakabe T, Suzuki T, Isaac RE, Quarmby LM, Tennant B, Fujioka H, Tuominen H, Hassinen I, Lohi H, van Houten JL, Rotig A, Sayer JA, Rolinski B, Freisinger P, Madhavan SM, Herzer M, Madignier F, Prokisch H, Nurnberg P, Jackson PK, Khanna H, Katsanis N, Hildebrandt F.

J Clin Invest. 2010 Mar;120(3):791-802. doi: 10.1172/JCI40076. Epub 2010 Feb 22. Erratum in: J Clin Invest. 2010 Apr;120(4):1362. Jackson, Peter [corrected to Jackson, Peter K].

24.

Decreased cytochrome c mediates an age-related decline of oxidative phosphorylation in rat kidney mitochondria.

O'Toole JF, Patel HV, Naples CJ, Fujioka H, Hoppel CL.

Biochem J. 2010 Mar 15;427(1):105-12. doi: 10.1042/BJ20091373.

25.

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis.

Louie CM, Caridi G, Lopes VS, Brancati F, Kispert A, Lancaster MA, Schlossman AM, Otto EA, Leitges M, Gröne HJ, Lopez I, Gudiseva HV, O'Toole JF, Vallespin E, Ayyagari R, Ayuso C, Cremers FP, den Hollander AI, Koenekoop RK, Dallapiccola B, Ghiggeri GM, Hildebrandt F, Valente EM, Williams DS, Gleeson JG.

Nat Genet. 2010 Feb;42(2):175-80. doi: 10.1038/ng.519. Epub 2010 Jan 17.

26.

A systematic approach to mapping recessive disease genes in individuals from outbred populations.

Hildebrandt F, Heeringa SF, Rüschendorf F, Attanasio M, Nürnberg G, Becker C, Seelow D, Huebner N, Chernin G, Vlangos CN, Zhou W, O'Toole JF, Hoskins BE, Wolf MT, Hinkes BG, Chaib H, Ashraf S, Schoeb DS, Ovunc B, Allen SJ, Vega-Warner V, Wise E, Harville HM, Lyons RH, Washburn J, Macdonald J, Nürnberg P, Otto EA.

PLoS Genet. 2009 Jan;5(1):e1000353. doi: 10.1371/journal.pgen.1000353. Epub 2009 Jan 23.

27.

Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing.

Otto EA, Helou J, Allen SJ, O'Toole JF, Wise EL, Ashraf S, Attanasio M, Zhou W, Wolf MT, Hildebrandt F.

Hum Mutat. 2008 Mar;29(3):418-26.

28.

Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis.

Wolf MT, Saunier S, O'Toole JF, Wanner N, Groshong T, Attanasio M, Salomon R, Stallmach T, Sayer JA, Waldherr R, Griebel M, Oh J, Neuhaus TJ, Josefiak U, Antignac C, Otto EA, Hildebrandt F.

Kidney Int. 2007 Dec;72(12):1520-6. Epub 2007 Oct 24.

29.

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.

J Am Soc Nephrol. 2007 Oct;18(10):2789-95. Epub 2007 Sep 12.

30.

Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis.

Attanasio M, Uhlenhaut NH, Sousa VH, O'Toole JF, Otto E, Anlag K, Klugmann C, Treier AC, Helou J, Sayer JA, Seelow D, Nürnberg G, Becker C, Chudley AE, Nürnberg P, Hildebrandt F, Treier M.

Nat Genet. 2007 Aug;39(8):1018-24. Epub 2007 Jul 8.

PMID:
17618285
31.

Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome.

Helou J, Otto EA, Attanasio M, Allen SJ, Parisi MA, Glass I, Utsch B, Hashmi S, Fazzi E, Omran H, O'Toole JF, Sayer JA, Hildebrandt F.

J Med Genet. 2007 Oct;44(10):657-63. Epub 2007 Jul 6.

32.

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.

Hinkes B, Wiggins RC, Gbadegesin R, Vlangos CN, Seelow D, Nürnberg G, Garg P, Verma R, Chaib H, Hoskins BE, Ashraf S, Becker C, Hennies HC, Goyal M, Wharram BL, Schachter AD, Mudumana S, Drummond I, Kerjaschki D, Waldherr R, Dietrich A, Ozaltin F, Bakkaloglu A, Cleper R, Basel-Vanagaite L, Pohl M, Griebel M, Tsygin AN, Soylu A, Müller D, Sorli CS, Bunney TD, Katan M, Liu J, Attanasio M, O'toole JF, Hasselbacher K, Mucha B, Otto EA, Airik R, Kispert A, Kelley GG, Smrcka AV, Gudermann T, Holzman LB, Nürnberg P, Hildebrandt F.

Nat Genet. 2006 Dec;38(12):1397-405. Epub 2006 Nov 5.

PMID:
17086182
33.

Mutational analysis in 119 families with nephronophthisis.

O'Toole JF, Otto EA, Hoefele J, Helou J, Hildebrandt F.

Pediatr Nephrol. 2007 Mar;22(3):366-70. Epub 2006 Oct 24.

PMID:
17061121
34.

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.

Sayer JA, Otto EA, O'Toole JF, Nurnberg G, Kennedy MA, Becker C, Hennies HC, Helou J, Attanasio M, Fausett BV, Utsch B, Khanna H, Liu Y, Drummond I, Kawakami I, Kusakabe T, Tsuda M, Ma L, Lee H, Larson RG, Allen SJ, Wilkinson CJ, Nigg EA, Shou C, Lillo C, Williams DS, Hoppe B, Kemper MJ, Neuhaus T, Parisi MA, Glass IA, Petry M, Kispert A, Gloy J, Ganner A, Walz G, Zhu X, Goldman D, Nurnberg P, Swaroop A, Leroux MR, Hildebrandt F.

Nat Genet. 2006 Jun;38(6):674-81. Epub 2006 May 7.

PMID:
16682973
35.

In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse.

Chang B, Khanna H, Hawes N, Jimeno D, He S, Lillo C, Parapuram SK, Cheng H, Scott A, Hurd RE, Sayer JA, Otto EA, Attanasio M, O'Toole JF, Jin G, Shou C, Hildebrandt F, Williams DS, Heckenlively JR, Swaroop A.

Hum Mol Genet. 2006 Jun 1;15(11):1847-57. Epub 2006 Apr 21.

36.

Retinitis pigmentosa and renal failure in a patient with mutations in INVS.

O'Toole JF, Otto EA, Frishberg Y, Hildebrandt F.

Nephrol Dial Transplant. 2006 Jul;21(7):1989-91. Epub 2006 Mar 7.

PMID:
16522655
37.

Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.

Hoefele J, Sudbrak R, Reinhardt R, Lehrack S, Hennig S, Imm A, Muerb U, Utsch B, Attanasio M, O'Toole JF, Otto E, Hildebrandt F.

Hum Mutat. 2005 Apr;25(4):411.

38.

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.

Otto EA, Loeys B, Khanna H, Hellemans J, Sudbrak R, Fan S, Muerb U, O'Toole JF, Helou J, Attanasio M, Utsch B, Sayer JA, Lillo C, Jimeno D, Coucke P, De Paepe A, Reinhardt R, Klages S, Tsuda M, Kawakami I, Kusakabe T, Omran H, Imm A, Tippens M, Raymond PA, Hill J, Beales P, He S, Kispert A, Margolis B, Williams DS, Swaroop A, Hildebrandt F.

Nat Genet. 2005 Mar;37(3):282-8. Epub 2005 Feb 20.

PMID:
15723066
39.

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.

Otto EA, Schermer B, Obara T, O'Toole JF, Hiller KS, Mueller AM, Ruf RG, Hoefele J, Beekmann F, Landau D, Foreman JW, Goodship JA, Strachan T, Kispert A, Wolf MT, Gagnadoux MF, Nivet H, Antignac C, Walz G, Drummond IA, Benzing T, Hildebrandt F.

Nat Genet. 2003 Aug;34(4):413-20.

40.

Membrane topology of Escherichia coli diacylglycerol kinase.

Smith RL, O'Toole JF, Maguire ME, Sanders CR 2nd.

J Bacteriol. 1994 Sep;176(17):5459-65.

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