Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis.
about
Modeling the ferrochelatase c.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice.Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups.Using induced pluripotent stem cells to understand retinal ciliopathy disease mechanisms and develop therapiesFrom disease modelling to personalised therapy in patients with CEP290 mutationsSpecies-dependent splice recognition of a cryptic exon resulting from a recurrent intronic CEP290 mutation that causes congenital blindness.In vitro and in vivo rescue of aberrant splicing in CEP290-associated LCA by antisense oligonucleotide delivery.CRISPR/Cas9-Mediated Genome Editing as a Therapeutic Approach for Leber Congenital Amaurosis 10.Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal Cells.Antisense Oligonucleotide Mediated Splice Correction of a Deep Intronic Mutation in OPA1.Unraveling the mysteries of pre-mRNA splicing in the retina via stem cell technology.Design and In Vitro Use of Antisense Oligonucleotides to Correct Pre-mRNA Splicing Defects in Inherited Retinal Dystrophies.Antisense Oligonucleotide-Based Splicing Correction in Individuals with Leber Congenital Amaurosis due to Compound Heterozygosity for the c.2991+1655A>G Mutation in CEP290.Spliceosome-Mediated Pre-mRNA trans-Splicing Can Repair CEP290 mRNA.Heterozygous Deep-Intronic Variants and Deletions inABCA4in Persons with Retinal Dystrophies and One ExonicABCA4Variant
P2860
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P2860
Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis.
description
2013 nî lūn-bûn
@nan
2013 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Unexpected CEP290 mRNA splicin ...... or Leber congenital amaurosis.
@ast
Unexpected CEP290 mRNA splicin ...... or Leber congenital amaurosis.
@en
type
label
Unexpected CEP290 mRNA splicin ...... or Leber congenital amaurosis.
@ast
Unexpected CEP290 mRNA splicin ...... or Leber congenital amaurosis.
@en
prefLabel
Unexpected CEP290 mRNA splicin ...... or Leber congenital amaurosis.
@ast
Unexpected CEP290 mRNA splicin ...... or Leber congenital amaurosis.
@en
P2093
P2860
P1433
P1476
Unexpected CEP290 mRNA splicin ...... for Leber congenital amaurosis
@en
P2093
Alejandro Garanto
Frans P M Cremers
Rob W J Collin
Ronald Roepman
Sylvia E C van Beersum
P2860
P304
P356
10.1371/JOURNAL.PONE.0079369
P407
P50
P577
2013-11-06T00:00:00Z