Edgar Otto, PhD - Citas de Google Académico

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Coautores

Massimo AttanasioUniversity of Iowa Carer College of MedicineDirección de correo verificada de uiowa.edu
John SayerProfessor of Renal MedicineDirección de correo verificada de ncl.ac.uk
Moumita ChakiHuman Molecular Geneticist, PreventionGeneticsDirección de correo verificada de preventiongenetics.com
Neveen A SolimanProfessor of Pediatrics, Cairo UniversityDirección de correo verificada de kasralainy.edu.eg
Bernhard SchermerNephrolab CologneDirección de correo verificada de uk-koeln.de
Thomas BenzingProfessor of Medicine, University of CologneDirección de correo verificada de uk-koeln.de
Zhou WeibinDuke UniversityDirección de correo verificada de duke.edu
Gokul RamaswamiPostdoctoral Fellow, UCLADirección de correo verificada de ucla.edu
Nicholas KatsanisLurie Children's Hospital and Northwestern UDirección de correo verificada de luriechildrens.org
David S. WilliamsUniversity of California Los AngelesDirección de correo verificada de ucla.edu
Tomoko ObaraUniversity of Oklahoma Health Science CenterDirección de correo verificada de ouhsc.edu
NothwangProfessor für Neurogenetik Universität OldenburgDirección de correo verificada de uni-oldenburg.de
Jeremy ReiterChair, Dept of Biochemistry, University of California, San FranciscoDirección de correo verificada de ucsf.edu
Francesc R. Garcia-GonzaloUniversity of California, San FranciscoDirección de correo verificada de ucsf.edu
Rannar AirikUniversity of PittsburghDirección de correo verificada de pitt.edu
CONCEPCIÓN LILLOProfesora, Instituto de Neurociencias de Castilla y León, Univ. SalamancaDirección de correo verificada de usal.es
Iain DrummondAssociate Professor in Medicine, Harvard Medical School and MGHDirección de correo verificada de mgh.harvard.edu
Thomas BoettgerMPI for Heart and Lung Research Bad NauheimDirección de correo verificada de mpi-bn.mpg.de
Christine PetitProfessor at Collège de France and Institut PasteurDirección de correo verificada de pasteur.fr
Richard J SmithUniversity of IowaDirección de correo verificada de uiowa.edu

Edgar Otto, PhD

Associate Research Scientist, Internal Medicine-Nephrology, University of Michigan

Dirección de correo verificada de umich.edu

Nephrology Human Genetics


Título	Citado por	Año
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination EA Otto, B Schermer, T Obara, JF O'Toole, KS Hiller, AM Mueller, RG Ruf, ... Nature genetics 34 (4), 413, 2003	598	2003
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible B Hinkes, RC Wiggins, R Gbadegesin, CN Vlangos, D Seelow, ... Nature genetics 38 (12), 1397, 2006	551	2006
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4 JA Sayer, EA Otto, JF O'Toole, G Nurnberg, MA Kennedy, C Becker, ... Nature genetics 38 (6), 674, 2006	548	2006
Barttin is a Cl^- channel β-subunit crucial for renal Cl^- reabsorption and inner ear K⁺ secretion R Estévez, T Boettger, V Stein, R Birkenhäger, E Otto, F Hildebrandt, ... Nature 414 (6863), 558, 2001	534	2001
Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure R Birkenhäger, E Otto, MJ Schürmann, M Vollmer, EM Ruf, I Maier-Lutz, ... Nature genetics 29 (3), 310, 2001	463	2001
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition FR Garcia-Gonzalo, KC Corbit, MS Sirerol-Piquer, G Ramaswami, EA Otto, ... Nature genetics 43 (8), 776, 2011	455	2011
Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways L Sang, JJ Miller, KC Corbit, RH Giles, MJ Brauer, EA Otto, LM Baye, ... Cell 145 (4), 513-528, 2011	437	2011
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis H Olbrich, M Fliegauf, J Hoefele, A Kispert, E Otto, A Volz, MT Wolf, ... Nature genetics 34 (4), 455, 2003	369	2003
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin EA Otto, B Loeys, H Khanna, J Hellemans, R Sudbrak, S Fan, U Muerb, ... Nature genetics 37 (3), 282, 2005	368	2005
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1–SIX1–DNA complexes RG Ruf, PX Xu, D Silvius, EA Otto, F Beekmann, UT Muerb, S Kumar, ... Proceedings of the National Academy of Sciences 101 (21), 8090-8095, 2004	366	2004
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 B Chang, H Khanna, N Hawes, D Jimeno, S He, C Lillo, SK Parapuram, ... Human molecular genetics 15 (11), 1847-1857, 2006	344	2006
A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1 F Hildebrandt, E Otto, C Rensing, HG Nothwang, M Vollmer, J Adolphs, ... Nature genetics 17 (2), 149, 1997	344	1997
Nephronophthisis: disease mechanisms of a ciliopathy F Hildebrandt, M Attanasio, E Otto Journal of the American Society of Nephrology 20 (1), 23-35, 2009	339	2009
Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease? F Hildebrandt, E Otto Nature Reviews Genetics 6 (12), 928, 2005	313	2005
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy EA Otto, TW Hurd, R Airik, M Chaki, W Zhou, C Stoetzel, SB Patil, S Levy, ... Nature genetics 42 (10), 840, 2010	304	2010
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum EE Davis, Q Zhang, Q Liu, BH Diplas, LM Davey, J Hartley, C Stoetzel, ... Nature genetics 43 (3), 189, 2011	297	2011
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome V Cantagrel, JL Silhavy, SL Bielas, D Swistun, SE Marsh, JY Bertrand, ... The American Journal of Human Genetics 83 (2), 170-179, 2008	282	2008
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling M Chaki, R Airik, AK Ghosh, RH Giles, R Chen, GG Slaats, H Wang, ... Cell 150 (3), 533-548, 2012	271	2012
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies H Khanna, EE Davis, CA Murga-Zamalloa, A Estrada-Cuzcano, I Lopez, ... Nature genetics 41 (6), 739, 2009	259	2009
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes EM Valente, CV Logan, S Mougou-Zerelli, JH Lee, JL Silhavy, F Brancati, ... Nature genetics 42 (7), 619, 2010	238	2010

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