Bridging The Gap: Defining the Molecular Mechanisms of Cep290
The pathology observed in these diseases is thought to be due to CEP290's essential role in the development and maintenance of the primary cilium but despite
CEP290 a gene with many faces: mutation overview and
5 févr. 2011 most intriguing disease genes associated with ciliopathies is CEP290 mutations in which cause a wide variety of distinct phenotypes
Therapeutic Correction of an LCA-Causing Splice Defect in the
in the CEP290 Gene by CRISPR/Cas-Mediated Genome Editing. Morgan L. Maeder Rina Mepani
ASGCT Correction of LCA Causing Splice Defect in CEP by CRISPR Maeder
Targeted exon skipping of a CEP290 mutation rescues Joubert
16 nov. 2018 disease in CEP290-associated ciliopathy syndromes. Joubert syndrome Cep290
ARTICLE CEP290 Mutations Are Frequently Identified in the Oculo
Mutations in the CEP290 gene were recently identified in families with the MTS-related neurological features many of which showed oculo-renal involvement
CEP Mutations are Frequently Identified
A Mild Phenotype Caused by Two Novel Compound Heterozygous
22 oct. 2020 of phenotypes is associated with CEP290 mutations ranging from isolated early-onset retinal degeneration (Leber congenital amaurosis—LCA ...
CEP290 gene
1 août 2010 This mutation reduces the production of functional CEP290 protein to very low levels in cells. Other genetic changes responsible for this ...
cep
In-frame deletion in a novel centrosomal/ciliary protein CEP290
21 avr. 2006 The mouse Cep290 cDNA and gene sequence correspond to GenBank accession no. XM_618806. Human Molecular Genetics 2006
ddl
A CEP290 C-Terminal Domain Complements the Mutant CEP290 of
16 oct. 2018 Mutant CEP290 of Rd16 Mice In Trans and Rescues. Retinal Degeneration ... Mutations in the CEP290 gene can lead to defects.
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A CEP290 C-Terminal Domain Complements the Mutant CEP290 of
16 oct. 2018 Mutant CEP290 of Rd16 Mice In Trans and Rescues. Retinal Degeneration ... Mutations in the CEP290 gene can lead to defects.
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