Search Results - "OTTO, E. A"

Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11) by Otto, E A, Tory, K, Attanasio, M, Zhou, W, Chaki, M, Paruchuri, Y, Wise, E L, Wolf, M T F, Utsch, B, Becker, C, Nürnberg, G, Nürnberg, P, Nayir, A, Saunier, S, Antignac, C, Hildebrandt, F

“…Nephronophthisis (NPHP), a rare recessive cystic kidney disease, is the most frequent genetic cause of chronic renal failure in children and young adults…”
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WDR19: An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome by Coussa, R G, Otto, E A, Gee, H-Y, Arthurs, P, Ren, H, Lopez, I, Keser, V, Fu, Q, Faingold, R, Khan, A, Schwartzentruber, J, Majewski, J, Hildebrandt, F, Koenekoop, R K

“…Autosomal recessive retinitis pigmentosa (arRP) is a clinically and genetically heterogeneous retinal disease that causes blindness. Our purpose was to…”
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Active and latent social groups and their interactional expertise by Arminen, Ilkka, Segersven, Otto EA, Simonen, Mika

“…As a part of their normative theory of expertise, Harry Collins and Robert Evans proposed that interactional expertise forms the third kind of knowledge,…”
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Orbital tissue-derived T lymphocytes from patients with Graves' ophthalmopathy recognize autologous orbital antigens by OTTO, E. A, OCHS, K, HANSEN, C, WALL, J. R, KAHALY, G. J

“…Lymphocytic and other mononuclear cell infiltration of the retro-bulbar space is observed in Graves' ophthalmopathy (GO). We investigated the antigenic…”
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Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis by Wolf, M.T.F., Saunier, S., O'Toole, J.F., Wanner, N., Groshong, T., Attanasio, M., Salomon, R., Stallmach, T., Sayer, J.A., Waldherr, R., Griebel, M., Oh, J., Neuhaus, T.J., Josefiak, U., Antignac, C., Otto, E.A., Hildebrandt, F.

“…Joubert syndrome (JS) is an autosomal recessive disorder, consisting of mental retardation, cerebellar vermis aplasia, an irregular breathing pattern, and…”
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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 by 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

“…Nephronophthisis (NPHP), an autosomal recessive cystic kidney disease, leads to chronic renal failure in children. The genes mutated in NPHP1 and NPHP4 have…”
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SIX1 Mutations Cause Branchio-Oto-Renal Syndrome by Disruption of EYA1-SIX1-DNA Complexes by Ruf, Rainer G., Xu, Pin-Xian, Silvius, Derek, Otto, Edgar A., Beekmann, Frank, Muerb, Ulla T., Kumar, Shrawan, Neuhaus, Thomas J., Kemper, Markus J., Raymond, Richard M., Brophy, Patrick D., Berkman, Jennifer, Gattas, Michael, Hyland, Valentine, Ruf, Eva-Maria, Schwartz, Charles, Chang, Eugene H., Richard J. H. Smith, Stratakis, Constantine A., Weil, Dominique, Petit, Christine, Hildebrandt, Friedhelm, Weissman, Irving L.

“…Urinary tract malformations constitute the most frequent cause of chronic renal failure in the first two decades of life. Branchio-otic (BO) syndrome is an…”
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Retrobulbar adipocytes and humoral immunity in Graves' ophthalmopathy by Hansen, C, Heussel, C P, Otto, E A, Stover, C, Beyer, J, Kahaly, G

“…As CT and MR-imaging revealed an enlargement of retrobulbar fat tissue in patients with Graves' ophthalmopathy, the role of the retrobulbar adipocytes in the…”
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Orbital tissue-derived T lymphocytes from patients with Graves' ophthalmopathy recognize autologous orbital antigens by Otto, E A, Ochs, K, Hansen, C, Wall, J R, Kahaly, G J

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Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy by Otto, Edgar A, Ramaswami, Gokul, Janssen, Sabine, Chaki, Moumita, Allen, Susan J, Zhou, Weibin, Airik, Rannar, Hurd, Toby W, Ghosh, Amiya K, Wolf, Matthias T, Hoppe, Bernd, Neuhaus, Thomas J, Bockenhauer, Detlef, Milford, David V, Soliman, Neveen A, Antignac, Corinne, Saunier, Sophie, Johnson, Colin A, Hildebrandt, Friedhelm

“…Nephronophthisis associated ciliopathies (NPHP-AC) comprise a group of autosomal recessive cystic kidney diseases that includes nephronophthisis (NPHP),…”
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Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy by 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, Jackson, Peter, Khanna, Hemant, Katsanis, Nicholas, Hildebrandt, Friedhelm

“…The autosomal recessive kidney disease nephronophthisis (NPHP) constitutes the most frequent genetic cause of terminal renal failure in the first 3 decades of…”
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Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior–Løken syndrome by 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

“…Background: Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease that constitutes the most common genetic cause of renal failure in the…”
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Conformational Changes in Guanylyl Cyclase-activating Protein 1 (GCAP1) and Its Tryptophan Mutants as a Function of Calcium Concentration by Sokal, Izabela, Otto-Bruc, Annie E., Surgucheva, Irina, Verlinde, Christophe L.M.J., Wang, Chien-Kao, Baehr, Wolfgang, Palczewski, Krzysztof

“…Guanylyl cyclase-activating proteins (GCAPs are 23-kDa Ca 2+ -binding proteins belonging to the calmodulin superfamily. Ca 2+ -free GCAPs are responsible for…”
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Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24 by Ashraf, Shazia, Hoskins, Bethan E., Chaib, Hassan, Hoefele, Julia, Pasch, Andreas, Saisawat, Pawaree, Trefz, Friedrich, Hacker, Hans W., Nuernberg, Gudrun, Nuernberg, Peter, Otto, Edgar A., Hildebrandt, Friedhelm

“…Background. Congenital anomalies of the kidney and urinary tract (CAKUT) account for the majority of end-stage renal disease in children (50%). Previous…”
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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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Phosphorylation of Photolyzed Rhodopsin is Calcium-Insensitive in Retina Permeabilized by α -toxin by Otto-Bruc, Annie E., Fariss, Robert N., Van Hooser, J. Preston, Palczewski, Krzysztof

“…Light triggers the phototransduction cascade by activating the visual pigment rhodopsin (Rho → Rho*). Phosphorylation of Rho*by rhodopsin kinase (RK) is…”
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Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin by Hildebrandt, Friedhelm, Otto, Edgar A, Loeys, Bart, Khanna, Hemant, Hellemans, Jan, Sudbrak, Ralf, Fan, Shuling, Muerb, Ulla, O'Toole, John F, Helou, Juliana, Attanasio, Massimo, Utsch, Boris, Sayer, John A, Lillo, Concepcion, Jimeno, David, Coucke, Paul, Paepe, Anne De, Reinhardt, Richard, Klages, Sven, Tsuda, Motoyuki, Kawakami, Isao, Kusakabe, Takehiro, Omran, Heymut, Imm, Anita, Tippens, Melissa, Raymond, Pamela A, Hill, Jo, Beales, Phil, He, Shirley, Kispert, Andreas, Margolis, Benjamin, Williams, David S, Swaroop, Anand

“…Nephronophthisis (NPHP) is the most frequent genetic cause of chronic renal failure in children. Identification of four genes mutated in NPHP subtypes 1-4…”
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Fabrication and characteristics of mesh band-pass filters by Tarasov, M. A., Gromov, V. D., Bogomolov, G. D., Otto, E. A., Kuzmin, L. S.

“…Mesh band-pass filters for 300-, 450-, 600-, and 750-GHz central frequencies are designed and manufactured. Copper and aluminum foil and foil-clad Teflon…”
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Genetic and physical interaction between the NPHP5 and NPHP6 gene products by Schäfer, Tobias, Pütz, Michael, Lienkamp, Soeren, Ganner, Athina, Bergbreiter, Astrid, Ramachandran, Haribaskar, Gieloff, Verena, Gerner, Martin, Mattonet, Christian, Czarnecki, Peter G., Sayer, John A., Otto, Edgar A., Hildebrandt, Friedhelm, Kramer-Zucker, Albrecht, Walz, Gerd

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Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing by WOLF, Matthias T. F, MUCHA, Bettina E, HILDEBRANDT, Friedhelm, HENNIES, Hans C, ATTANASIO, Massimo, PANTHER, Franziska, ZALEWSKI, Isabella, KARLE, Stephanie M, OTTO, Edgar A, DELTAS, C. Constantinou, FUCHSHUBER, Arno

“…Medullary cystic kidney disease type 1 (MCKD1) is an autosomal dominant, tubulo-interstitial nephropathy that causes renal salt wasting and end-stage renal…”
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