APOL1 polymorphisms and kidney disease: loss-of-function or gain-of-function? von Bruggeman, Leslie A, O'Toole, John F, Sedor, John R

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APOL1 Localization in Normal Kidney and Nondiabetic Kidney Disease von MADHAVAN, Sethu M, O'TOOLE, John F, KONIECZKOWSKI, Martha, GANESAN, Santhi, BRUGGEMAN, Leslie A, SEDOR, John R

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Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways von Sang, Liyun, Miller, Julie J., Corbit, Kevin C., Giles, Rachel H., Brauer, Matthew J., Otto, Edgar A., Baye, Lisa M., Wen, Xiaohui, Scales, Suzie J., Kwong, Mandy, Huntzicker, Erik G., Sfakianos, Mindan K., Sandoval, Wendy, Bazan, J. Fernando, Kulkarni, Priya, Garcia-Gonzalo, Francesc R., Seol, Allen D., O'Toole, John F., Held, Susanne, Reutter, Heiko M., Lane, William S., Rafiq, Muhammad Arshad, Noor, Abdul, Ansar, Muhammad, Devi, Akella Radha Rama, Sheffield, Val C., Slusarski, Diane C., Vincent, John B., Doherty, Daniel A., Hildebrandt, Friedhelm, Reiter, Jeremy F., Jackson, Peter K.

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Lack of APOL1 in proximal tubules of normal human kidneys and proteinuric APOL1 transgenic mouse kidneys von 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.

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Integrative Genomics Identifies Novel Associations with APOL1 Risk Genotypes in Black NEPTUNE Subjects von Sampson, Matthew G, Robertson, Catherine C, Martini, Sebastian, Mariani, Laura H, Lemley, Kevin V, Gillies, Christopher E, Otto, Edgar A, Kopp, Jeffrey B, Randolph, Anne, Vega-Warner, Virginia, Eichinger, Felix, Nair, Viji, Gipson, Debbie S, Cattran, Daniel C, Johnstone, Duncan B, O'Toole, John F, Bagnasco, Serena M, Song, Peter X, Barisoni, Laura, Troost, Jonathan P, Kretzler, Matthias, Sedor, John R

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Modelling kidney disease using ontology: insights from the Kidney Precision Medicine Project von Ong, Edison, Wang, Lucy L., Schaub, Jennifer, O’Toole, John F., Steck, Becky, Rosenberg, Avi Z., Dowd, Frederick, Hansen, Jens, Barisoni, Laura, Jain, Sanjay, de Boer, Ian H., Valerius, M. Todd, Waikar, Sushrut S., Park, Christopher, Crawford, Dana C., Alexandrov, Theodore, Anderton, Christopher R., Stoeckert, Christian, Weng, Chunhua, Diehl, Alexander D., Mungall, Christopher J., Haendel, Melissa, Robinson, Peter N., Himmelfarb, Jonathan, Iyengar, Ravi, Kretzler, Matthias, Mooney, Sean, He, Yongqun

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APOL1-G0 protects podocytes in a mouse model of HIV-associated nephropathy von Bruggeman, Leslie A, Wu, Zhenzhen, Luo, Liping, Madhavan, Sethu, Drawz, Paul E, Thomas, David B, Barisoni, Laura, O'Toole, John F, Sedor, John R

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Essential role of Wtip in mouse development and maintenance of the glomerular filtration barrier von Madhavan, Sethu M, Konieczkowski, Martha, Bruggeman, Leslie A, DeWalt, Megan, Nguyen, Jane K, O'Toole, John F, Sedor, John R

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T-cell receptor diversity in minimal change disease in the NEPTUNE study von 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.

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Viral associations with kidney disease diagnosis and altered kidney metatranscriptome by kidney function von Hong, Changjin, Eichinger, Felix, Atta, Mohamed G., Estrella, Michelle M., Fine, Derek M., Ross, Michael J., Wyatt, Christina, Hwang, Tae Hyun, Kretzler, Matthias, Sedor, John R., O’Toole, John F., Miller, Aaron W., Bruggeman, Leslie A.

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Renal manifestations of genetic mitochondrial disease von O'Toole, John F

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A systematic approach to mapping recessive disease genes in individuals from outbred populations von Hildebrandt, Friedhelm, Heeringa, Saskia F, Rüschendorf, Franz, Attanasio, Massimo, Nürnberg, Gudrun, Becker, Christian, Seelow, Dominik, Huebner, Norbert, Chernin, Gil, Vlangos, Christopher N, Zhou, Weibin, 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, Vega-Warner, Virginia, Wise, Eric, Harville, Heather M, Lyons, Robert H, Washburn, Joseph, Macdonald, James, Nürnberg, Peter, Otto, Edgar A

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Urinary Proteomics Identifies Cathepsin D as a Biomarker of Rapid eGFR Decline in Type 1 Diabetes von Limonte, Christine P, Valo, Erkka, Drel, Viktor, Natarajan, Loki, Darshi, Manjula, Forsblom, Carol, Henderson, Clark M, Hoofnagle, Andrew N, Ju, Wenjun, Kretzler, Matthias, Montemayor, Daniel, Nair, Viji, Nelson, Robert G, O'Toole, John F, Toto, Robert D, Rosas, Sylvia E, Ruzinski, John, Sandholm, Niina, Schmidt, Insa M, Vaisar, Tomas, Waikar, Sushrut S, Zhang, Jing, Rossing, Peter, Ahluwalia, Tarunveer S, Groop, Per-Henrik, Pennathur, Subramaniam, Snell-Bergeon, Janet K, Costacou, Tina, Orchard, Trevor J, Sharma, Kumar, de Boer, Ian H

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Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies von Gee, Heon Yung, Otto, Edgar A., Hurd, Toby W., Ashraf, Shazia, Chaki, Moumita, Cluckey, Andrew, Vega-Warner, Virginia, Saisawat, Pawaree, Diaz, Katrina A., Fang, Humphrey, Kohl, Stefan, Allen, Susan J., Airik, Rannar, Zhou, Weibin, Ramaswami, Gokul, Janssen, Sabine, Fu, Clementine, Innis, Jamie L., Weber, Stefanie, Vester, Udo, Davis, Erica E., Katsanis, Nicholas, Fathy, Hanan M., Jeck, Nikola, Klaus, Gunther, Nayir, Ahmet, Rahim, Khawla A., Attrach, Ibrahim Al, Hassoun, Ibrahim Al, Ozturk, Savas, Drozdz, Dorota, Helmchen, Udo, O'Toole, John F., Attanasio, Massimo, Lewis, Richard A., Nürnberg, Gudrun, Nürnberg, Peter, Washburn, Joseph, MacDonald, James, Innis, Jeffrey W., Levy, Shawn, Hildebrandt, Friedhelm

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Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination von Obara, Tomoko, Hoefele, Julia, Nivet, Hubert, Otto, Edgar A, O'Toole, John F, Gagnadoux, Marie F, Kispert, Andreas, Hildebrandt, Friedhelm, Ruf, Rainer G, Beekmann, Frank, Strachan, Tom, Walz, Gerd, Schermer, Bernhard, Mueller, Adelheid M, Drummond, Iain A, Landau, Daniel, Foreman, John W, Wolf, Matthias T, Antignac, Corinne, Benzing, Thomas, Hiller, Karl S, Goodship, Judith A

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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 von 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

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AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis von den Hollander, Anneke I, Dallapiccola, Bruno, Ayuso, Carmen, Caridi, Gianluca, Brancati, Francesco, Kispert, Andreas, Gudiseva, Harini V, Louie, Carrie M, Koenekoop, Robert K, Ayyagari, Radha, Leitges, Michael, Lopez, Irma, Vallespin, Elena, Otto, Edgar A, Williams, David S, Lopes, Vanda S, Valente, Enza Maria, Gleeson, Joseph G, Lancaster, Madeline A, Cremers, Frans P M, Hildebrandt, Friedhelm, O'Toole, John F, Gröne, Hermann-Josef, Ghiggeri, Gian Marco, Schlossman, Andrew M

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Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis von Hildebrandt, Friedhelm, Treier, Mathias, 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

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Podocyte density is reduced in kidney allografts with high‐risk APOL1 genotypes at transplantation von 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.

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Mitochondrial aminopeptidase deletion increases chronological lifespan and oxidative stress resistance while decreasing respiratory metabolism in S. cerevisiae von Stames, Erine M, O'Toole, John F

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