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Willingness to Participate in a National Precision Medicine Cohort: Attitudes of Chronic Kidney Disease Patients at a Cleveland Public Hospital.
Published in:
Journal of Personalized Medicine, 2018, v. 8, n. 3, p. 21, doi. 10.3390/jpm8030021
By:
- Cooke Bailey, Jessica N.;
- Crawford, Dana C.;
- Goldenberg, Aaron;
- Slaven, Anne;
- Pencak, Julie;
- Schachere, Marleen;
- Bush, William S.;
- Sedor, John R.;
- O'Toole, John F.
Publication type:
Article
Kidney disease: new technologies translate mechanisms to cure.
Published in:
Journal of Clinical Investigation, 2014, v. 124, n. 6, p. 2294, doi. 10.1172/JCI76825
By:
- O'Toole, John F.;
- Sedor, John R.
Publication type:
Article
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis.
Published in:
Nature Genetics, 2010, v. 42, n. 2, p. 175, doi. 10.1038/ng.519
By:
- Louie, Carrie M.;
- Caridi, Gianluca;
- Lopes, Vanda S.;
- Brancati, Francesco;
- Kispert, Andreas;
- Lancaster, Madeline A.;
- Schlossman, Andrew M.;
- Otto, Edgar A.;
- Leitges, Michael;
- Gröne, Hermann-Josef;
- Lopez, Irma;
- Gudiseva, Harini V.;
- O'Toole, John F.;
- Vallespin, Elena;
- Ayyagari, Radha;
- Ayuso, Carmen;
- Cremers, Frans P. M.;
- den Hollander, Anneke I.;
- Koenekoop, Robert K.;
- Dallapiccola, Bruno
Publication type:
Article
Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis.
Published in:
Nature Genetics, 2007, v. 39, n. 8, p. 1018, doi. 10.1038/ng2072
By:
- Attanasio, Massimo;
- Uhlenhaut, N. Henriette;
- Sousa, Vitor H.;
- O'Toole, John F.;
- Otto, Edgar;
- Anlag, Katrin;
- Klugmann, Claudia;
- Treier, Anna-Corina;
- Helou, Juliana;
- Sayer, John A.;
- Seelow, Dominik;
- Nürnberg, Gudrun;
- Becker, Christian;
- Chudley, Albert E.;
- Nürnberg, Peter;
- Hildebrandt, Friedhelm;
- Treier, Mathias
Publication type:
Article
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
Published in:
Nature Genetics, 2006, v. 38, n. 6, p. 674, doi. 10.1038/ng1786
By:
- Sayer, John A.;
- Otto, Edgar A.;
- O'Toole, John F.;
- Nurnberg, Gudrun;
- Kennedy, Michael A.;
- Becker, Christian;
- Hennies, Hans Christian;
- Helou, Juliana;
- Attanasio, Massimo;
- Fausett, Blake V.;
- Utsch, Boris;
- Khanna, Hemant;
- Yan Liu;
- Drummond, Iain;
- Kawakami, Isao;
- Kusakabe, Takehiro;
- Tsuda, Motoyuki;
- Li Ma;
- Hwankyu Lee;
- Larson, Ronald G.
Publication type:
Article
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.
Published in:
Nature Genetics, 2005, v. 37, n. 3, p. 282, doi. 10.1038/ng1520
By:
- Otto, Edgar A;
- Loeys, Bart;
- Khanna, Hemant;
- Hellemans, Jan;
- Sudbrak, Ralf;
- Shuling Fan;
- Muerb, Ulla;
- O'Toole, John F;
- Helou, Juliana;
- Attanasio, Massimo;
- Utsch, Boris;
- Sayer, John A;
- Lillo, Concepcion;
- Jimeno, David;
- Coucke, Paul;
- De Paepe, Anne;
- Reinhardt, Richard;
- Klages, Sven;
- Tsuda, Motoyuki;
- Kawakami, Isao
Publication type:
Article
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.
Published in:
Nature Genetics, 2003, v. 34, n. 4, p. 413, doi. 10.1038/ng1217
By:
- Otto, Edgar A.;
- Schermer, Bernhard;
- Obara, Tomoko;
- O'Toole, John F.;
- Hiller, Karl S.;
- Mueller, Adelheid M.;
- Ruf, Rainer G.;
- Hoefele, Julia;
- Beekmann, Frank;
- Landau, Daniel;
- Foreman, John W.;
- Goodship, Judith A.;
- Strachan, Tom;
- Kispert, Andreas;
- Wolf, Matthias T.;
- Gagnadoux, Marie F.;
- Nivet, Hubert;
- Antignac, Corine;
- Walz, Gerd
Publication type:
Article
Mitochondrial Aminopeptidase Deletion Increases Chronological Lifespan and Oxidative Stress Resistance while Decreasing Respiratory Metabolism in <i>S. cerevisiae</i>.
Published in:
PLoS ONE, 2013, v. 8, n. 10, p. 1, doi. 10.1371/journal.pone.0077234
By:
- Stames, Erine M.;
- O'Toole, John F.
Publication type:
Article
T-cell receptor diversity in minimal change disease in the NEPTUNE study.
Published in:
Pediatric Nephrology, 2023, v. 38, n. 4, p. 1115, doi. 10.1007/s00467-022-05696-x
By:
- Liu, Shiying;
- Bush, William S.;
- Miskimen, Kristy;
- Gonzalez-Vicente, Agustin;
- Bailey, Jessica N. Cooke;
- Konidari, Ioanna;
- McCauley, Jacob L.;
- Sedor, John R.;
- O'Toole, John F.;
- Crawford, Dana C.
Publication type:
Article
Lack of APOL1 in proximal tubules of normal human kidneys and proteinuric APOL1 transgenic mouse kidneys.
Published in:
PLoS ONE, 2021, v. 16, n. 6, p. 1, doi. 10.1371/journal.pone.0253197
By:
- Blessing, Natalya A.;
- Wu, Zhenzhen;
- Madhavan, Sethu M.;
- Choy, Jonathan W.;
- Chen, Michelle;
- Shin, Myung K.;
- Hoek, Maarten;
- Sedor, John R.;
- O'Toole, John F.;
- Bruggeman, Leslie A.
Publication type:
Article
Association of preeclampsia with infant APOL1 genotype in African Americans.
Published in:
BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01048-4
By:
- Miller, Anna K.;
- Azhibekov, Timur;
- O'Toole, John F.;
- Sedor, John R.;
- Williams, Scott M.;
- Redline, Raymond W.;
- Bruggeman, Leslie A.
Publication type:
Article
APOL1-G0 protects podocytes in a mouse model of HIV-associated nephropathy.
Published in:
PLoS ONE, 2019, v. 14, n. 10, p. 1, doi. 10.1371/journal.pone.0224408
By:
- Bruggeman, Leslie A.;
- Wu, Zhenzhen;
- Luo, Liping;
- Madhavan, Sethu;
- Drawz, Paul E.;
- Thomas, David B.;
- Barisoni, Laura;
- O'Toole, John F.;
- Sedor, John R.
Publication type:
Article
Renal manifestations of genetic mitochondrial disease.
Published in:
International Journal of Nephrology & Renovascular Disease, 2014, v. 7, p. 57, doi. 10.2147/IJNRD.S37887
By:
- O'Toole, John F.
Publication type:
Article
Mutational analysis in 119 families with nephronophthisis.
Published in:
Pediatric Nephrology, 2007, v. 22, n. 3, p. 366, doi. 10.1007/s00467-006-0334-9
By:
- O'Toole, John F.;
- Otto, Edgar A.;
- Hoefele, Julia;
- Helou, Juliana;
- Hildebrandt, Friedhelm
Publication type:
Article
A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations.
Published in:
PLoS Genetics, 2009, v. 5, n. 1, p. 1, doi. 10.1371/journal.pgen.1000353
By:
- Hildebrandt, Friedhelm;
- Heeringa, Saskia F.;
- Rüschendorf, Franz;
- Attanasio, Massimo;
- Nürnberg, Gudrun;
- Becker, Christian;
- Seelow, Dominik;
- Huebner, Norbert;
- Chernin, Gil;
- Vlangos, Christopher N.;
- Weibin Zhou;
- O'Toole, John F.;
- Hoskins, Bethan E.;
- Wolf, Matthias T. F.;
- Hinkes, Bernward G.;
- Chaib, Hassan;
- Ashraf, Shazia;
- Schoeb, Dominik S.;
- Ovunc, Bugsu;
- Allen, Susan J.
Publication type:
Article
Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing.
Published in:
Human Mutation, 2008, v. 29, n. 3, p. 418, doi. 10.1002/humu.20669
By:
- Otto, Edgar A.;
- Helou, Juliana;
- Allen, Susan J.;
- O'Toole, John F.;
- Wise, Eric L.;
- Ashraf, Shazia;
- Attanasio, Massimo;
- Zhou, Weibin;
- Wolf, Matthias T.F.;
- Hildebrandt, Friedhelm
Publication type:
Article
Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.
Published in:
Human Mutation, 2005, v. 25, n. 4, p. 411, doi. 10.1002/humu.9326
By:
- Hoefele, Julia;
- Sudbrak, Ralf;
- Reinhardt, Richard;
- Lehrack, Silvia;
- Hennig, Steffen;
- Imm, Anita;
- Muerb, Ulla;
- Utsch, Boris;
- Attanasio, Massimo;
- O'Toole, John F.;
- Otto, Edgar;
- Hildebrandt, Friedhelm
Publication type:
Article
Retinitis pigmentosa and renal failure in a patient with mutations in INVS.
Published in:
Nephrology Dialysis Transplantation, 2006, v. 21, n. 7, p. 1989, doi. 10.1093/ndt/gfl088
By:
- John F. O'Toole;
- Edgar A. Otto;
- Yaacov Frishberg;
- Friedhelm Hildebrandt
Publication type:
Article
Podocyte density is reduced in kidney allografts with high‐risk APOL1 genotypes at transplantation.
Published in:
Clinical Transplantation, 2021, v. 35, n. 4, p. 1, doi. 10.1111/ctr.14234
By:
- Chen, Dhruti P.;
- Zaky, Ziad S.;
- Schold, Jesse D.;
- Herlitz, Leal C.;
- El‐Rifai, Rasha;
- Drawz, Paul E.;
- Bruggeman, Leslie A.;
- Barisoni, Laura;
- Hogan, Susan L;
- Hu, Yichun;
- O'Toole, John F.;
- Poggio, Emilio D.;
- Sedor, John R.
Publication type:
Article
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.
Published in:
Human Molecular Genetics, 2006, v. 15, n. 11, p. 1847, doi. 10.1093/hmg/ddl107
By:
- Chang, Bo;
- Khanna, Hemant;
- Hawes, Norman;
- Jimeno, David;
- He, Shirley;
- Lillo, Concepcion;
- Parapuram, Sunil K.;
- Cheng, Hong;
- Scott, Alison;
- Hurd, Ron E.;
- Sayer, John A.;
- Otto, Edgar A.;
- Attanasio, Massimo;
- O'Toole, John F.;
- Jin, Genglin;
- Shou, Chengchao;
- Hildebrandt, Friedhelm;
- Williams, David S.;
- Heckenlively, John R.;
- Swaroop, Anand
Publication type:
Article

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