Gebruikersprofielen voor "Otto, E. "
Edgar Otto, PhDAssociate 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 …
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 …
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
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 …
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
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 …
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
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 …
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
Nephronophthisis (NPHP), Joubert (JBTS), and Meckel-Gruber (MKS) syndromes are
autosomal-recessive ciliopathies presenting with cystic kidneys, retinal degeneration, and …
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 …
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
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 …
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 …
herpes simplex virus-thymidine kinase (HSV-TK) gene induces regression of experimental …
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
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 …
ciliopathies. This grouping is underscored by genetic overlap, where causal genes can also …