A Case of Hyperphosphatemia and Elevated Fibroblast Growth Factor 23: A Brief Review of Hyperphosphatemia and Fibroblast Growth Factor 23 Pathway

por Wang, Joseph, Vogt, Beth, Sethi, Sidharth Kumar, Sampson, Matthew G., Vega-Warner, Virginia, Otto, Edgar A., Raina, Rupesh
Publicado 2017

Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets

por Ma, Sara L., Vega-Warner, Virginia, Gillies, Christopher, Sampson, Matthew G., Kher, Vijay, Sethi, Sidharth K., Otto, Edgar A.
Publicado 2015

Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report

por Montgomery, Emma, Sayer, John A., Baines, Laura A., Hynes, Ann Marie, Vega-Warner, Virginia, Johnson, Sally, Goodship, Judith A., Otto, Edgar A.
Publicado 2015

A Familial Infantile Renal Failure

por Sethi, Sidharth K., Wadhwani, Nikita, Jha, Pranaw, Duggal, Rajan, Vega-Warner, Virginia, Raina, Rupesh, Bansal, Shyam B., Kher, Vijay, Sampson, Matthew G., Otto, Edgar A.
Publicado 2016

Single-cell analysis of progenitor cell dynamics and lineage specification in the human fetal kidney

por Menon, Rajasree, Otto, Edgar A., Kokoruda, Austin, Zhou, Jian, Zhang, Zidong, Yoon, Euisik, Chen, Yu-Chih, Troyanskaya, Olga, Spence, Jason R., Kretzler, Matthias, Cebrián, Cristina
Publicado 2018

tarSVM: Improving the accuracy of variant calls derived from microfluidic PCR-based targeted next generation sequencing using a support vector machine

por Gillies, Christopher E., Otto, Edgar A., Vega-Warner, Virginia, Robertson, Catherine C., Sanna-Cherchi, Simone, Gharavi, Ali, Crawford, Brendan, Bhimma, Rajendra, Winkler, Cheryl, Kang, Hyun Min, Sampson, Matthew G.
Publicado 2016

PKD2 founder mutation is the most common mutation of polycystic kidney disease in Taiwan

por Yu, Chih-Chuan, Lee, An-Fu, Kohl, Stefen, Lin, Ming-Yen, Cheng, Siao Muk, Hung, Chi-Chih, Chang, Jer-Ming, Chiu, Yi-Wen, Hwang, Shang-Jyh, Otto, Edgar A., Hildebrandt, Friedhelm, Hwang, Daw-Yang
Publicado 2022

A Transition Zone Complex Regulates Mammalian Ciliogenesis and Ciliary Membrane Composition

por Garcia-Gonzalo, Francesc R., Corbit, Kevin C., Sirerol-Piquer, María Salomé, Ramaswami, Gokul, Otto, Edgar A., Noriega, Thomas R., Seol, Allen D., Robinson, Jon F., Bennett, Christopher L., Josifova, Dragana J., García-Verdugo, José Manuel, Katsanis, Nicholas, Hildebrandt, Friedhelm, Reiter, Jeremy F.
Publicado 2011

TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone

por Roberson, Elle C., Dowdle, William E., Ozanturk, Aysegul, Garcia-Gonzalo, Francesc R., Li, Chunmei, Halbritter, Jan, Elkhartoufi, Nadia, Porath, Jonathan D., Cope, Heidi, Ashley-Koch, Allison, Gregory, Simon, Thomas, Sophie, Sayer, John A., Saunier, Sophie, Otto, Edgar A., Katsanis, Nicholas, Davis, Erica E., Attié-Bitach, Tania, Hildebrandt, Friedhelm, Leroux, Michel R., Reiter, Jeremy F.
Publicado 2015

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype

por Perrault, Isabelle, Halbritter, Jan, Porath, Jonathan D, Gérard, Xavier, Braun, Daniela A, Gee, Heon Yung, Fathy, Hanan M, Saunier, Sophie, Cormier-Daire, Valérie, Thomas, Sophie, Attié-Bitach, Tania, Boddaert, Nathalie, Taschner, Michael, Schueler, Markus, Lorentzen, Esben, Lifton, Richard P, Lawson, Jennifer A, Garfa-Traore, Meriem, Otto, Edgar A, Bastin, Philippe, Caillaud, Catherine, Kaplan, Josseline, Rozet, Jean-Michel, Hildebrandt, Friedhelm
Publicado 2015

Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity

por Braun, Daniela A., Schueler, Markus, Halbritter, Jan, Gee, Heon Yung, Porath, Jonathan D., Lawson, Jennifer A., Airik, Rannar, Shril, Shirlee, Allen, Susan J., Stein, Deborah, Al Kindy, Adila, Beck, Bodo B., Cengiz, Nurcan, Moorani, Khemchand N., Ozaltin, Fatih, Hashmi, Seema, Sayer, John A., Bockenhauer, Detlef, Soliman, Neveen A., Otto, Edgar A., Lifton, Richard P., Hildebrandt, Friedhelm
Publicado 2016

SGLT2 inhibitors mitigate kidney tubular metabolic and mTORC1 perturbations in youth-onset type 2 diabetes

por Schaub, Jennifer A., AlAkwaa, Fadhl M., McCown, Phillip J., Naik, Abhijit S., Nair, Viji, Eddy, Sean, Menon, Rajasree, Otto, Edgar A., Demeke, Dawit, Hartman, John, Fermin, Damian, O’Connor, Christopher L., Subramanian, Lalita, Bitzer, Markus, Harned, Roger, Ladd, Patricia, Pyle, Laura, Pennathur, Subramaniam, Inoki, Ken, Hodgin, Jeffrey B., Brosius, Frank C., Nelson, Robert G., Kretzler, Matthias, Bjornstad, Petter
Publicado 2023

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 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 2009

SARS-CoV-2 receptor networks in diabetic and COVID-19–associated kidney disease

por Menon, Rajasree, Otto, Edgar A., Sealfon, Rachel, Nair, Viji, Wong, Aaron K., Theesfeld, Chandra L., Chen, Xi, Wang, Yuan, Boppana, Avinash S., Luo, Jinghui, Yang, Yingbao, Kasson, Peter M., Schaub, Jennifer A., Berthier, Celine C., Eddy, Sean, Lienczewski, Chrysta C., Godfrey, Bradley, Dagenais, Susan L., Sohaney, Ryann, Hartman, John, Fermin, Damian, Subramanian, Lalita, Looker, Helen C., Harder, Jennifer L., Mariani, Laura H., Hodgin, Jeffrey B., Sexton, Jonathan Z., Wobus, Christiane E., Naik, Abhijit S., Nelson, Robert G., Troyanskaya, Olga G., Kretzler, Matthias
Publicado 2020

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

por Khanna, Hemant, Davis, Erica E., Murga-Zamalloa, Carlos A., Estrada, Alejandro, Lopez, Irma, den Hollander, Anneke I., Zonneveld, Marijke N., Othman, Mohammad I., Waseem, Naushin, Chakarova, Christina F., Maubaret, Cecilia, Diaz-Font, Anna, MacDonald, Ian, Muzny, Donna M., Wheeler, David A., Morgan, Margaret, Lewis, Lora R., Logan, Clare V., Tan, Perciliz L., Beer, Michael A., Inglehearn, Chris F., Lewis, Richard A., Jacobson, Samuel G., Bergmann, Carsten, Beales, Philip L., Attié-Bitach, Tania, Johnson, Colin A., Otto, Edgar A., Bhattacharya, Shomi S., Hildebrandt, Friedhelm, Gibbs, Richard A., Koenekoop, Robert K., Swaroop, Anand, Katsanis, Nicholas
Publicado 2009

Endogenous adenine mediates kidney injury in diabetic models and predicts diabetic kidney disease in patients

por Sharma, Kumar, Zhang, Guanshi, Hansen, Jens, Bjornstad, Petter, Lee, Hak Joo, Menon, Rajasree, Hejazi, Leila, Liu, Jian-Jun, Franzone, Anthony, Looker, Helen C., Choi, Byeong Yeob, Fernandez, Roman, Venkatachalam, Manjeri A., Kugathasan, Luxcia, Sridhar, Vikas S., Natarajan, Loki, Zhang, Jing, Sharma, Varun S., Kwan, Brian, Waikar, Sushrut S., Himmelfarb, Jonathan, Tuttle, Katherine R., Kestenbaum, Bryan, Fuhrer, Tobias, Feldman, Harold I., de Boer, Ian H., Tucci, Fabio C., Sedor, John, Heerspink, Hiddo Lambers, Schaub, Jennifer, Otto, Edgar A., Hodgin, Jeffrey B., Kretzler, Matthias, Anderton, Christopher R., Alexandrov, Theodore, Cherney, David, Lim, Su Chi, Nelson, Robert G., Gelfond, Jonathan, Iyengar, Ravi
Publicado 2023

FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair

por Zhou, Weibin, Otto, Edgar A., Cluckey, Andrew, Airik, Rannar, Hurd, Toby W., Chaki, Moumita, Diaz, Katrina, Lach, Francis P., Bennett, Geoffrey R., Gee, Heon Y., Ghosh, Amiya K., Natarajan, Sivakumar, Thongthip, Supawat, Veturi, Uma, Allen, Susan J., Janssen, Sabine, Ramaswami, Gokul, Dixon, Joanne, Burkhalter, Felix, Spoendlin, Martin, Moch, Holger, Mihatsch, Michael J., Verine, Jerome, Reade, Richard, Soliman, Hany, Godin, Michel, Kiss, Denes, Monga, Guido, Mazzucco, Gianna, Amann, Kerstin, Artunc, Ferruh, Newland, Ronald C., Wiech, Thorsten, Zschiedrich, Stefan, Huber, Tobias B., Friedl, Andreas, Slaats, Gisela G., Joles, Jaap A., Goldschmeding, Roel, Washburn, Joseph, Giles, Rachel H., Levy, Shawn, Smogorzewska, Agata, Hildebrandt, Friedhelm
Publicado 2012

ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3

por Hoff, Sylvia, Halbritter, Jan, Epting, Daniel, Frank, Valeska, Nguyen, Thanh-Minh T., van Reeuwijk, Jeroen, Boehlke, Christopher, Schell, Christoph, Yasunaga, Takayuki, Helmstädter, Martin, Mergen, Miriam, Filhol, Emilie, Boldt, Karsten, Horn, Nicola, Ueffing, Marius, Otto, Edgar A., Eisenberger, Tobias, Elting, Mariet W., van Wijk, Joanna A.E., Bockenhauer, Detlef, Sebire, Neil J., Rittig, Søren, Vyberg, Mogens, Ring, Troels, Pohl, Martin, Pape, Lars, Neuhaus, Thomas J., Soliman Elshakhs, Neveen A., Koon, Sarah J., Harris, Peter C., Grahammer, Florian, Huber, Tobias B., Kuehn, E. Wolfgang, Kramer-Zucker, Albrecht, Bolz, Hanno J., Roepman, Ronald, Saunier, Sophie, Walz, Gerd, Hildebrandt, Friedhelm, Bergmann, Carsten, Lienkamp, Soeren S.
Publicado 2013

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 2013