Edgar Otto, PhD
Edgar Otto, PhD
Associate Research Scientist, Internal Medicine-Nephrology, University of Michigan
Dirección de correo verificada de umich.edu
TítuloCitado porAño
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
5982003
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
5512006
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
5482006
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
5342001
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
4632001
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
4552011
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
4372011
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
3692003
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
3682005
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
3662004
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
3442006
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
3441997
Nephronophthisis: disease mechanisms of a ciliopathy
F Hildebrandt, M Attanasio, E Otto
Journal of the American Society of Nephrology 20 (1), 23-35, 2009
3392009
Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease?
F Hildebrandt, E Otto
Nature Reviews Genetics 6 (12), 928, 2005
3132005
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
3042010
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
2972011
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
2822008
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
2712012
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
2592009
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
2382010
El sistema no puede realizar la operación en estos momentos. Inténtalo de nuevo más tarde.
Artículos 1–20