Edgar Otto, PhD
Edgar Otto, PhD
Associate Research Scientist, Internal Medicine-Nephrology, University of Michigan
Dirección de correo verificada de umich.edu
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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), 674-681, 2006
6202006
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), 413-420, 2003
6172003
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), 1397-1405, 2006
5602006
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), 558-561, 2001
5472001
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
4922011
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), 310-314, 2001
4742001
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
4712011
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), 282-288, 2005
3812005
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
3802004
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), 455-459, 2003
3782003
Nephronophthisis: disease mechanisms of a ciliopathy
F Hildebrandt, M Attanasio, E Otto
Journal of the American Society of Nephrology 20 (1), 23-35, 2009
3542009
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), 149-153, 1997
3511997
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
3482006
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), 840-850, 2010
3162010
Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease?
F Hildebrandt, E Otto
Nature Reviews Genetics 6 (12), 928-940, 2005
3162005
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), 189-196, 2011
3102011
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
3022008
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
2962012
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), 739-745, 2009
2662009
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
2372010
El sistema no puede realizar la operación en estos momentos. Inténtalo de nuevo más tarde.
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