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1.
Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing.
Hum Mol Genet
; 32(21): 3078-3089, 2023 10 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-37555651
2.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-38243599
3.
PCARE requires coiled coil, RP62 kinase-binding and EVH1 domain-binding motifs for ciliary expansion.
Hum Mol Genet
; 31(15): 2560-2570, 2022 08 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-35253837
4.
Study of Late-Onset Stargardt Type 1 Disease: Characteristics, Genetics, and Progression.
Ophthalmology
; 131(1): 87-97, 2024 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-37598860
5.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-32312818
6.
A look into retinal organoids: methods, analytical techniques, and applications.
Cell Mol Life Sci
; 78(19-20): 6505-6532, 2021 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-34420069
7.
PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease.
Hum Mutat
; 42(12): 1521-1547, 2021 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-34411390
8.
Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease.
Am J Hum Genet
; 102(4): 517-527, 2018 04 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29526278
9.
ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease.
Genome Res
; 28(1): 100-110, 2018 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29162642
10.
Antisense Oligonucleotide-Based Rescue of Aberrant Splicing Defects Caused by 15 Pathogenic Variants in ABCA4.
Int J Mol Sci
; 22(9)2021 Apr 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-33924840
11.
Zebrafish as a Model to Evaluate a CRISPR/Cas9-Based Exon Excision Approach as a Future Treatment Option for EYS-Associated Retinitis Pigmentosa.
Int J Mol Sci
; 22(17)2021 Aug 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-34502064
12.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-29982478
13.
Defects in the Cell Signaling Mediator ß-Catenin Cause the Retinal Vascular Condition FEVR.
Am J Hum Genet
; 100(6): 960-968, 2017 Jun 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-28575650
14.
In or Out? New Insights on Exon Recognition through Splice-Site Interdependency.
Int J Mol Sci
; 21(7)2020 03 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-32225107
15.
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.
Genet Med
; 21(8): 1761-1771, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-30670881
16.
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.
Genet Med
; 21(8): 1751-1760, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-30643219
17.
EYS mutation update: In silico assessment of 271 reported and 26 novel variants in patients with retinitis pigmentosa.
Hum Mutat
; 39(2): 177-186, 2018 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-29159838
18.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-27106101
19.
Antisense Oligonucleotide-Based Splice Correction of a Deep-Intronic Mutation in CHM Underlying Choroideremia.
Adv Exp Med Biol
; 1074: 83-89, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-29721931
20.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-29518907