Search Results - "Otto, Edgar A."

High-Throughput Screening Enhances Kidney Organoid Differentiation from Human Pluripotent Stem Cells and Enables Automated Multidimensional Phenotyping by Czerniecki, Stefan M., Cruz, Nelly M., Harder, Jennifer L., Menon, Rajasree, Annis, James, Otto, Edgar A., Gulieva, Ramila E., Islas, Laura V., Kim, Yong Kyun, Tran, Linh M., Martins, Timothy J., Pippin, Jeffrey W., Fu, Hongxia, Kretzler, Matthias, Shankland, Stuart J., Himmelfarb, Jonathan, Moon, Randall T., Paragas, Neal, Freedman, Benjamin S.

“…Organoids derived from human pluripotent stem cells are a potentially powerful tool for high-throughput screening (HTS), but the complexity of organoid…”
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Single-cell analysis of progenitor cell dynamics and lineage specification in the human fetal kidney by 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

“…The mammalian kidney develops through reciprocal interactions between the ureteric bud and the metanephric mesenchyme to give rise to the entire collecting…”
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Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease by Lu, Hao, Galeano, Maria C Rondón, Ott, Elisabeth, Kaeslin, Geraldine, Kausalya, P Jaya, Kramer, Carina, Ortiz-Brüchle, Nadina, Hilger, Nadescha, Metzis, Vicki, Hiersche, Milan, Tay, Shang Yew, Tunningley, Robert, Vij, Shubha, Courtney, Andrew D, Whittle, Belinda, Wühl, Elke, Vester, Udo, Hartleben, Björn, Neuber, Steffen, Frank, Valeska, Little, Melissa H, Epting, Daniel, Papathanasiou, Peter, Perkins, Andrew C, Wright, Graham D, Hunziker, Walter, Gee, Heon Yung, Otto, Edgar A, Zerres, Klaus, Hildebrandt, Friedhelm, Roy, Sudipto, Wicking, Carol, Bergmann, Carsten

“…Sudipto Roy, Carol Wicking, Carsten Bergmann and colleagues report that mutations in DZIP1L cause autosomal recessive polycystic kidney disease (ARPKD)…”
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SGLT2 inhibitors mitigate kidney tubular metabolic and mTORC1 perturbations in youth-onset type 2 diabetes by 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, 3rd, Frank C, Nelson, Robert G, Kretzler, Matthias, Bjornstad, Petter

“…The molecular mechanisms of sodium-glucose cotransporter-2 (SGLT2) inhibitors (SGLT2i) remain incompletely understood. Single-cell RNA sequencing and…”
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A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition by Reiter, Jeremy F, 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

“…Jeremy Reiter and colleagues show that Tctn1 is a component of a transition zone complex that regulates ciliogenesis and ciliary membrane composition. They…”
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Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways by 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.

“…Nephronophthisis (NPHP), Joubert (JBTS), and Meckel-Gruber (MKS) syndromes are autosomal-recessive ciliopathies presenting with cystic kidneys, retinal…”
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Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability by Failler, Marion, Gee, Heon Yung, Krug, Pauline, Joo, Kwangsic, Halbritter, Jan, Belkacem, Lilya, Filhol, Emilie, Porath, Jonathan D., Braun, Daniela A., Schueler, Markus, Frigo, Amandine, Alibeu, Olivier, Masson, Cécile, Brochard, Karine, Hurault de Ligny, Bruno, Novo, Robert, Pietrement, Christine, Kayserili, Hulya, Salomon, Rémi, Gubler, Marie-Claire, Otto, Edgar A., Antignac, Corinne, Kim, Joon, Benmerah, Alexandre, Hildebrandt, Friedhelm, Saunier, Sophie

“…Ciliopathies are a group of hereditary disorders associated with defects in cilia structure and function. The distal appendages (DAPs) of centrioles are…”
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Endogenous adenine mediates kidney injury in diabetic models and predicts diabetic kidney disease in patients by 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

“…Diabetic kidney disease (DKD) can lead to end-stage kidney disease (ESKD) and mortality; however, few mechanistic biomarkers are available for high-risk…”
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Mutations in EMP2 Cause Childhood-Onset Nephrotic Syndrome by Gee, Heon Yung, Ashraf, Shazia, Wan, Xiaoyang, Vega-Warner, Virginia, Esteve-Rudd, Julian, Lovric, Svjetlana, Fang, Humphrey, Hurd, Toby W., Sadowski, Carolin E., Allen, Susan J., Otto, Edgar A., Korkmaz, Emine, Washburn, Joseph, Levy, Shawn, Williams, David S., Bakkaloglu, Sevcan A., Zolotnitskaya, Anna, Ozaltin, Fatih, Zhou, Weibin, Hildebrandt, Friedhelm

“…Nephrotic syndrome (NS) is a genetically heterogeneous group of diseases that are divided into steroid-sensitive NS (SSNS) and steroid-resistant NS (SRNS)…”
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TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone by 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

“…The Meckel syndrome (MKS) complex functions at the transition zone, located between the basal body and axoneme, to regulate the localization of ciliary…”
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DCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Signaling by Schueler, Markus, Braun, Daniela A., Chandrasekar, Gayathri, Gee, Heon Yung, Klasson, Timothy D., Halbritter, Jan, Bieder, Andrea, Porath, Jonathan D., Airik, Rannar, Zhou, Weibin, LoTurco, Joseph J., Che, Alicia, Otto, Edgar A., Böckenhauer, Detlef, Sebire, Neil J., Honzik, Tomas, Harris, Peter C., Koon, Sarah J., Gunay-Aygun, Meral, Saunier, Sophie, Zerres, Klaus, Bruechle, Nadina Ortiz, Drenth, Joost P.H., Pelletier, Laurence, Tapia-Páez, Isabel, Lifton, Richard P., Giles, Rachel H., Kere, Juha, Hildebrandt, Friedhelm

“…Nephronophthisis-related ciliopathies (NPHP-RC) are recessive diseases characterized by renal dysplasia or degeneration. We here identify mutations of DCDC2 as…”
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Mutations in SPAG1 Cause Primary Ciliary Dyskinesia Associated with Defective Outer and Inner Dynein Arms by Knowles, Michael R., Ostrowski, Lawrence E., Loges, Niki T., Hurd, Toby, Leigh, Margaret W., Huang, Lu, Wolf, Whitney E., Carson, Johnny L., Hazucha, Milan J., Yin, Weining, Davis, Stephanie D., Dell, Sharon D., Ferkol, Thomas W., Sagel, Scott D., Olivier, Kenneth N., Jahnke, Charlotte, Olbrich, Heike, Werner, Claudius, Raidt, Johanna, Wallmeier, Julia, Pennekamp, Petra, Dougherty, Gerard W., Hjeij, Rim, Gee, Heon Yung, Otto, Edgar A., Halbritter, Jan, Chaki, Moumita, Diaz, Katrina A., Braun, Daniela A., Porath, Jonathan D., Schueler, Markus, Baktai, György, Griese, Matthias, Turner, Emily H., Lewis, Alexandra P., Bamshad, Michael J., Nickerson, Deborah A., Hildebrandt, Friedhelm, Shendure, Jay, Omran, Heymut, Zariwala, Maimoona A.

“…Primary ciliary dyskinesia (PCD) is a genetically heterogeneous, autosomal-recessive disorder, characterized by oto-sino-pulmonary disease and situs…”
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A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies by Lewis, Richard A, Attié-Bitach, Tania, Beer, Michael A, Inglehearn, Chris F, Katsanis, Nicholas, Waseem, Naushin, Jacobson, Samuel G, Estrada-Cuzcano, Alejandro, MacDonald, Ian, Wheeler, David A, Koenekoop, Robert K, Tan, Perciliz L, Othman, Mohammad I, Khanna, Hemant, Lopez, Irma, Muzny, Donna M, Swaroop, Anand, Lewis, Lora R, Bhattacharya, Shomi S, Diaz-Font, Anna, Maubaret, Cecilia, Gibbs, Richard A, Morgan, Margaret, Otto, Edgar A, Murga-Zamalloa, Carlos A, Chakarova, Christina F, Beales, Philip L, Zonneveld, Marijke N, Hildebrandt, Friedhelm, Davis, Erica E, Bergmann, Carsten, Johnson, Colin A, Logan, Clare V, den Hollander, Anneke I

“…Despite rapid advances in the identification of genes involved in disease, the predictive power of the genotype remains limited, in part owing to poorly…”
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Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome by Lovric, Svjetlana, Fang, Humphrey, Vega-Warner, Virginia, Sadowski, Carolin E, Gee, Heon Yung, Halbritter, Jan, Ashraf, Shazia, Saisawat, Pawaree, Soliman, Neveen A, Kari, Jameela A, Otto, Edgar A, Hildebrandt, Friedhelm

“…In steroid-resistant nephrotic syndrome (SRNS), >21 single-gene causes are known. However, mutation analysis of all known SRNS genes is time and cost…”
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Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets by Ma, Sara L, Vega-Warner, Virginia, Gillies, Christopher, Sampson, Matthew G, Kher, Vijay, Sethi, Sidharth K, Otto, Edgar A

“…Hypophosphatemic rickets (HR) is a heterogeneous genetic phosphate wasting disorder. The disease is most commonly caused by mutations in the PHEX gene located…”
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Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome by Cantagrel, Vincent, Silhavy, Jennifer L., Bielas, Stephanie L., Swistun, Dominika, Marsh, Sarah E., Bertrand, Julien Y., Audollent, Sophie, Attié-Bitach, Tania, Holden, Kenton R., Dobyns, William B., Traver, David, Al-Gazali, Lihadh, Ali, Bassam R., Lindner, Tom H., Caspary, Tamara, Otto, Edgar A., Hildebrandt, Friedhelm, Glass, Ian A., Logan, Clare V., Johnson, Colin A., Bennett, Christopher, Brancati, Francesco, Valente, Enza Maria, Woods, C. Geoffrey, Gleeson, Joseph G.

“…Joubert syndrome (JS) and related disorders are a group of autosomal-recessive conditions sharing the “molar tooth sign” on axial brain MRI, together with…”
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NEK8 Mutations Affect Ciliary and Centrosomal Localization and May Cause Nephronophthisis by OTTO, Edgar A, TRAPP, Melissa L, SCHULTHEISS, Ulla T, HELOU, Juliana, QUARMBY, Lynne M, HILDEBRANDT, Friedhelm

“…Nephronophthisis, an autosomal recessive kidney disease, is the most frequent genetic cause of chronic renal failure in the first 3 decades of life. Causative…”
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A systematic approach to mapping recessive disease genes in individuals from outbred populations by 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

“…The identification of recessive disease-causing genes by homozygosity mapping is often restricted by lack of suitable consanguineous families. To overcome…”
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AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis by 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

“…Degeneration of photoreceptors is a common feature of ciliopathies, owing to the importance of the specialized ciliary structure of these cells. Mutations in…”
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Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies by Schueler, Markus, Halbritter, Jan, Phelps, Ian G, Braun, Daniela A, Otto, Edgar A, Porath, Jonathan D, Gee, Heon Yung, Shendure, Jay, O'Roak, Brian J, Lawson, Jennifer A, Nabhan, Marwa M, Soliman, Neveen A, Doherty, Dan, Hildebrandt, Friedhelm

“…The term nephronophthisis-related ciliopathies (NPHP-RC) describes a group of rare autosomal-recessive cystic kidney diseases, characterised by broad genetic…”
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