Gebruikersprofielen voor "Otto, E. "

Edgar Otto, PhD

Associate Research Scientist, Internal Medicine-Nephrology, University of Michigan
Geverifieerd e-mailadres voor umich.edu
Geciteerd door 22865

Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease?

F Hildebrandt, E Otto - Nature Reviews Genetics, 2005 - nature.com
Cystic kidney diseases are among the most frequent lethal genetic diseases. Positional
cloning of novel cystic kidney disease genes revealed that their products (cystoproteins) are …

Commercial lunar propellant architecture: A collaborative study of lunar propellant production

D Kornuta, A Abbud-Madrid, J Atkinson, J Barr… - Reach, 2019 - Elsevier
Aside 2 from Earth, the inner solar system is like a vast desert where water and other volatiles
are scarce. An old saying is, “In the desert, gold is useless and water is priceless.” While …

Canadian stroke best practice recommendations: acute stroke management, practice guidelines update, 2022

M Heran, P Lindsay, G Gubitz, A Yu… - Canadian Journal of …, 2024 - cambridge.org
The 2022 update of the Canadian Stroke Best Practice Recommendations (CSBPR) for
Acute Stroke Management, 7th edition, is a comprehensive summary of current evidence-based …

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

JA Sayer, EA Otto, JF O'Toole, G Nurnberg… - Nature …, 2006 - nature.com
The molecular basis of nephronophthisis 1 , the most frequent genetic cause of renal failure
in children and young adults, and its association with retinal degeneration and cerebellar …

An atlas of healthy and injured cell states and niches in the human kidney

BB Lake, R Menon, S Winfree, Q Hu, R Melo Ferreira… - Nature, 2023 - nature.com
Understanding kidney disease relies on defining the complexity of cell types and states, their
associated molecular profiles and interactions within tissue neighbourhoods 1 . Here we …

[HTML][HTML] Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways

L Sang, JJ Miller, KC Corbit, RH Giles, MJ Brauer… - Cell, 2011 - cell.com
Nephronophthisis (NPHP), Joubert (JBTS), and Meckel-Gruber (MKS) syndromes are
autosomal-recessive ciliopathies presenting with cystic kidneys, retinal degeneration, and …

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

B Hinkes, RC Wiggins, R Gbadegesin, CN Vlangos… - Nature …, 2006 - nature.com
Nephrotic syndrome, a malfunction of the kidney glomerular filter, leads to proteinuria, edema
and, in steroid-resistant nephrotic syndrome, end-stage kidney disease. Using positional …

SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1–SIX1–DNA complexes

RG Ruf, PX Xu, D Silvius, EA Otto… - Proceedings of the …, 2004 - National Acad Sciences
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 autosomal dominant …

Therapy of malignant brain tumors by intratumoral implantation of retroviral vector-producing cells

Z Ram, KW Culver, EM Oshiro, JJ Viola, HL DeVroom… - Nature medicine, 1997 - nature.com
Intratumoral implantation of murine cells modified to produce retroviral vectors containing the
herpes simplex virus-thymidine kinase (HSV-TK) gene induces regression of experimental …

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

EE Davis, Q Zhang, Q Liu, BH Diplas, LM Davey… - Nature …, 2011 - nature.com
Ciliary dysfunction leads to a broad range of overlapping phenotypes, collectively termed
ciliopathies. This grouping is underscored by genetic overlap, where causal genes can also …