Detalhe da pesquisa
1.
Proof-of-concept for multiple AON delivery by a single U7snRNA vector to restore splicing defects in ABCA4.
Mol Ther
; 32(3): 837-851, 2024 Mar 06.
Artigo
Inglês
| MEDLINE | ID: mdl-38243599
2.
PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation.
Proc Natl Acad Sci U S A
; 117(18): 9922-9931, 2020 05 05.
Artigo
Inglês
| MEDLINE | ID: mdl-32312818
3.
An FEVR-associated mutation in ZNF408 alters the expression of genes involved in the development of vasculature.
Hum Mol Genet
; 27(20): 3519-3527, 2018 10 15.
Artigo
Inglês
| MEDLINE | ID: mdl-29982478
4.
In vitro and in vivo rescue of aberrant splicing in CEP290-associated LCA by antisense oligonucleotide delivery.
Hum Mol Genet
; 25(12): 2552-2563, 2016 06 15.
Artigo
Inglês
| MEDLINE | ID: mdl-27106101
5.
Antisense Oligonucleotide-Based Splicing Correction in Individuals with Leber Congenital Amaurosis due to Compound Heterozygosity for the c.2991+1655A>G Mutation in CEP290.
Int J Mol Sci
; 19(3)2018 Mar 07.
Artigo
Inglês
| MEDLINE | ID: mdl-29518907
6.
Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations.
Hum Mol Genet
; 24(14): 4037-48, 2015 Jul 15.
Artigo
Inglês
| MEDLINE | ID: mdl-25882705
7.
ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature.
Proc Natl Acad Sci U S A
; 110(24): 9856-61, 2013 Jun 11.
Artigo
Inglês
| MEDLINE | ID: mdl-23716654
8.
Species-dependent splice recognition of a cryptic exon resulting from a recurrent intronic CEP290 mutation that causes congenital blindness.
Int J Mol Sci
; 16(3): 5285-98, 2015 Mar 09.
Artigo
Inglês
| MEDLINE | ID: mdl-25761237
9.
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.
J Med Genet
; 50(5): 309-23, 2013 May.
Artigo
Inglês
| MEDLINE | ID: mdl-23456818
10.
Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare ABCA4 Variant in a Child with Early-Onset Stargardt Disease.
Cells
; 13(7)2024 Mar 29.
Artigo
Inglês
| MEDLINE | ID: mdl-38607040
11.
Generation of three isogenic control lines from patient-derived iPSCs carrying bi-allelic ABCA4 variants underlying Stargardt disease.
Stem Cell Res
; 71: 103169, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37480818
12.
Generation of iPSC lines from three Stargardt patients carrying bi-allelic ABCA4 variants.
Stem Cell Res
; 71: 103164, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37441824
13.
CRISPR-Cas9 correction of a nonsense mutation in LCA5 rescues lebercilin expression and localization in human retinal organoids.
Mol Ther Methods Clin Dev
; 29: 522-531, 2023 Jun 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37305852
14.
The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a Reduction in mRNA Expression in a Cell-Specific Manner.
Cells
; 11(22)2022 11 17.
Artigo
Inglês
| MEDLINE | ID: mdl-36429068
15.
Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease.
Mol Ther Nucleic Acids
; 21: 412-427, 2020 Sep 04.
Artigo
Inglês
| MEDLINE | ID: mdl-32653833
16.
Antisense Oligonucleotide Screening to Optimize the Rescue of the Splicing Defect Caused by the Recurrent Deep-Intronic ABCA4 Variant c.4539+2001G>A in Stargardt Disease.
Genes (Basel)
; 10(6)2019 06 14.
Artigo
Inglês
| MEDLINE | ID: mdl-31197102
17.
Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 Models.
Mol Ther Nucleic Acids
; 12: 730-740, 2018 Sep 07.
Artigo
Inglês
| MEDLINE | ID: mdl-30114557