Ciliopathies
F Hildebrandt, T Benzing… - New England Journal of …, 2011 - Mass Medical Soc
Ciliopathies | New England Journal of Medicine Skip to main content The New England Journal
of Medicine homepage Advanced Search SEARCH SPECIALTIES Cardiology Clinical Medicine …
of Medicine homepage Advanced Search SEARCH SPECIALTIES Cardiology Clinical Medicine …
Ciliopathies: an expanding disease spectrum
AM Waters, PL Beales - Pediatric nephrology, 2011 - Springer
Ciliopathies comprise a group of disorders associated with genetic mutations encoding
defective proteins, which result in either abnormal formation or function of cilia. As cilia are a …
defective proteins, which result in either abnormal formation or function of cilia. As cilia are a …
Development of a gene-editing approach to restore vision loss in Leber congenital amaurosis type 10
ML Maeder, M Stefanidakis, CJ Wilson, R Baral… - Nature medicine, 2019 - nature.com
Leber congenital amaurosis type 10 is a severe retinal dystrophy caused by mutations in the
CEP290 gene,. We developed EDIT-101, a candidate genome-editing therapeutic, to …
CEP290 gene,. We developed EDIT-101, a candidate genome-editing therapeutic, to …
A platform for experimental precision medicine: The extended BXD mouse family
The challenge of precision medicine is to model complex interactions among DNA variants,
phenotypes, development, environments, and treatments. We address this challenge by …
phenotypes, development, environments, and treatments. We address this challenge by …
Identification and correction of mechanisms underlying inherited blindness in human iPSC-derived optic cups
Leber congenital amaurosis (LCA) is an inherited retinal dystrophy that causes childhood
blindness. Photoreceptors are especially sensitive to an intronic mutation in the cilia-related …
blindness. Photoreceptors are especially sensitive to an intronic mutation in the cilia-related …
CRISPR/Cas9-mediated genome editing as a therapeutic approach for Leber congenital amaurosis 10
As the most common subtype of Leber congenital amaurosis (LCA), LCA10 is a severe
retinal dystrophy caused by mutations in the CEP290 gene. The most frequent mutation …
retinal dystrophy caused by mutations in the CEP290 gene. The most frequent mutation …
Effect of genome size on AAV vector packaging
Z Wu, H Yang, P Colosi - Molecular Therapy, 2010 - cell.com
Adeno-associated virus (AAV) vector genomes have been limited to 5 kilobases (kb) in
length because their packaging limit was thought to be similar to the size of the parent AAV …
length because their packaging limit was thought to be similar to the size of the parent AAV …
When cilia go bad: cilia defects and ciliopathies
M Fliegauf, T Benzing, H Omran - Nature reviews Molecular cell biology, 2007 - nature.com
Defects in the function of cellular organelles such as peroxisomes, lysosomes and
mitochondria are well-known causes of human diseases. Recently, another organelle has …
mitochondria are well-known causes of human diseases. Recently, another organelle has …
Leber congenital amaurosis: genes, proteins and disease mechanisms
AI Den Hollander, R Roepman, RK Koenekoop… - Progress in retinal and …, 2008 - Elsevier
Leber congenital amaurosis (LCA) is the most severe retinal dystrophy causing blindness or
severe visual impairment before the age of 1 year. Linkage analysis, homozygosity mapping …
severe visual impairment before the age of 1 year. Linkage analysis, homozygosity mapping …
[HTML][HTML] Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways
Summary Nephronophthisis (NPHP), Joubert (JBTS), and Meckel-Gruber (MKS) syndromes
are autosomal-recessive ciliopathies presenting with cystic kidneys, retinal degeneration …
are autosomal-recessive ciliopathies presenting with cystic kidneys, retinal degeneration …