Renal manifestations of genetic mitochondrial disease

Por O’Toole, John F
Publicado em 2014

The biology of APOL1 with insights into the association of APOL1 variants with chronic kidney disease

Por Madhavan, Sethu, O'Toole, John F.
Publicado em 2014

Mitochondrial Aminopeptidase Deletion Increases Chronological Lifespan and Oxidative Stress Resistance while Decreasing Respiratory Metabolism in S. cerevisiae

Por Stames, Erine M., O'Toole, John F.
Publicado em 2013

Kidney disease: new technologies translate mechanisms to cure

Por O’Toole, John F., Sedor, John R.
Publicado em 2014

Identifying the Intracellular Function of APOL1

Por Bruggeman, Leslie A., O’Toole, John F., Sedor, John R.
Publicado no J Am Soc Nephrol (2017)

A reduction of cytochrome c mediates an age-related decline of oxidative phosphorylation in rat kidney mitochondria

Por O’Toole, John F., Patel, Hiral V., Naples, Colin J., Fujioka, Hisashi, Hoppel, Charles L.
Publicado em 2010

APOL1 Localization in Normal Kidney and Nondiabetic Kidney Disease

Por Madhavan, Sethu M., O'Toole, John F., Konieczkowski, Martha, Ganesan, Santhi, Bruggeman, Leslie A., Sedor, John R.
Publicado em 2011

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

Por Bruggeman, Leslie A., Wu, Zhenzhen, Luo, Liping, Madhavan, Sethu M., Konieczkowski, Martha, Drawz, Paul E., Thomas, David B., Barisoni, Laura, Sedor, John R., O'Toole, John F.
Publicado no J Am Soc Nephrol (2016)

Plasma Apolipoprotein L1 Levels Do Not Correlate with CKD

Por Bruggeman, Leslie A., O'Toole, John F., Ross, Michael D., Madhavan, Sethu M., Smurzynski, Marlene, Wu, Kunling, Bosch, Ronald J., Gupta, Samir, Pollak, Martin R., Sedor, John R., Kalayjian, Robert C.
Publicado em 2014

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

Por Helou, Juliana, Otto, Edgar A, Attanasio, Massimo, Allen, Susan J, Parisi, Melissa A, Glass, Ian, Utsch, Boris, Hashmi, Seema, Fazzi, Elisa, Omran, Heymut, O'Toole, John F, Sayer, John A, Hildebrandt, Friedhelm
Publicado em 2007

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

Por 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
Publicado em 2006

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

Por 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, Corinne, Walz, Gerd, Drummond, Iain A, Benzing, Thomas, Hildebrandt, Friedhelm
Publicado em 2003

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

Por 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.
Publicado no J Am Soc Nephrol (2016)

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

Por Louie, Carrie M, Caridi, Gianluca, Lopes, Vanda S, Brancati, Francesco, Kispert, Andreas, Lancaster, Madeline A, Schlossman, Andrew M, Otto, Edgar A, Leitges, Michael, Groene, Hermann-Josef, Lopez, Irma, Gudiseva, Harini V, O’Toole, John F, Vallespin, Elena, Ayyagari, Radha, Ayuso, Carmen, Cremers, Frans P, den Hollander, Anneke I, Koenekoop, Robert K, Dallapiccola, Bruno, Ghiggeri, Gian Marco, Hildebrandt, Friedhelm, Valente, Enza Maria, Williams, David S, Gleeson, Joseph G
Publicado em 2010

A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations

Por 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.
Publicado em 2009

Mapping the Nephronophthisis-Joubert-Meckel-Gruber Protein Network Reveals Ciliopathy Disease Genes and Pathways

Por 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.
Publicado em 2011

Whole exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies

Por 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, Nürnberg, Gudrun, Nürnberg, Peter, Washburn, Joseph, MacDonald, James, James, Jeffrey W., Levy, Shawn, Hildebrandt, Friedhelm
Publicado em 2013

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

Por O’Toole, John F., Liu, Yangjian, Davis, Erica E., Westlake, Christopher J., Attanasio, Massimo, Otto, Edgar A., Seelow, Dominik, Nurnberg, Gudrun, Becker, Christian, Nuutinen, Matti, Kärppä, Mikko, Ignatius, Jaakko, Uusimaa, Johanna, Pakanen, Salla, Jaakkola, Elisa, van den Heuvel, Lambertus P., Fehrenbach, Henry, Wiggins, Roger, Goyal, Meera, Zhou, Weibin, Wolf, Matthias T.F., Wise, Eric, Helou, Juliana, Allen, Susan J., Murga-Zamalloa, Carlos A., Ashraf, Shazia, Chaki, Moumita, Heeringa, Saskia, Chernin, Gil, Hoskins, Bethan E., Chaib, Hassan, Gleeson, Joseph, Kusakabe, Takehiro, Suzuki, Takako, Isaac, R. Elwyn, Quarmby, Lynne M., Tennant, Bryan, Fujioka, Hisashi, Tuominen, Hannu, Hassinen, Ilmo, Lohi, Hellevi, van Houten, Judith L., Rotig, Agnes, Sayer, John A., Rolinski, Boris, Freisinger, Peter, Madhavan, Sethu M., Herzer, Martina, Madignier, Florence, Prokisch, Holger, Nurnberg, Peter, Jackson, Peter K., Khanna, Hemant, Katsanis, Nicholas, Hildebrandt, Friedhelm
Publicado em 2010

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

Por O’Toole, John F., Liu, Yangjian, Davis, Erica E., Westlake, Christopher J., Attanasio, Massimo, Otto, Edgar A., Seelow, Dominik, Nurnberg, Gudrun, Becker, Christian, Nuutinen, Matti, Kärppä, Mikko, Ignatius, Jaakko, Uusimaa, Johanna, Pakanen, Salla, Jaakkola, Elisa, van den Heuvel, Lambertus P., Fehrenbach, Henry, Wiggins, Roger, Goyal, Meera, Zhou, Weibin, Wolf, Matthias T.F., Wise, Eric, Helou, Juliana, Allen, Susan J., Murga-Zamalloa, Carlos A., Ashraf, Shazia, Chaki, Moumita, Heeringa, Saskia, Chernin, Gil, Hoskins, Bethan E., Chaib, Hassan, Gleeson, Joseph, Kusakabe, Takehiro, Suzuki, Takako, Isaac, R. Elwyn, Quarmby, Lynne M., Tennant, Bryan, Fujioka, Hisashi, Tuominen, Hannu, Hassinen, Ilmo, Lohi, Hellevi, van Houten, Judith L., Rotig, Agnes, Sayer, John A., Rolinski, Boris, Freisinger, Peter, Madhavan, Sethu M., Herzer, Martina, Madignier, Florence, Prokisch, Holger, Nurnberg, Peter, Jackson, Peter, Khanna, Hemant, Katsanis, Nicholas, Hildebrandt, Friedhelm
Publicado em 2010

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

Por Chaki, Moumita, Airik, Rannar, Ghosh, Amiya K., Giles, Rachel H., Chen, Rui, Slaats, Gisela G., Wang, Hui, Hurd, Toby W., Zhou, Weibin, Cluckey, Andrew, Gee, Heon-Yung, Ramaswami, Gokul, Hong, Chen-Jei, Hamilton, Bruce A., Červenka, Igor, Ganji, Ranjani Sri, Bryja, Vitezslav, Arts, Heleen H., van Reeuwijk, Jeroen, Oud, Machteld M., Letteboer, Stef J.F., Roepman, Ronald, Husson, Hervé, Ibraghimov-Beskrovnaya, Oxana, Ysunaga, Takayuki, Walz, Gerd, Eley, Lorraine, Sayer, John A., Schermer, Bernhard, Liebau, Max C., Benzing, Thomas, Le Corre, Stephanie, Drummond, Iain, Joles, Jaap A., Janssen, Sabine, Allen, Susan J., Natarajan, Sivakumar, O Toole, John F., Attanasio, Massimo, Saunier, Sophie, Antignac, Corinne, Koenekoop, Robert K., Ren, Huanan, Lopez, Irma, Nayir, Ahmet, Stoetzel, Corinne, Dollfus, Helene, Massoudi, Rustin, Gleeson, Joseph G., Andreoli, Sharon P., Doherty, Dan G., Lindstrad, Anna, Golzio, Christelle, Katsanis, Nicholas, Pape, Lars, Abboud, Emad B., Al-Rajhi, Ali A., Lewis, Richard A., Lupski, James R., Omran, Heymut, Lee, Eva, Wang, Shaohui, Sekiguchi, JoAnn M., Saunders, Rudel, Johnson, Colin A., Garner, Elizabeth, Vanselow, Katja, Andersen, Jens S., Shlomai, Joseph, Nurnberg, Gudrun, Nurnberg, Peter, Levy, Shawn, Smogorzewska, Agata, Otto, Edgar A., Hildebrandt, Friedhelm
Publicado em 2012