Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides-Reference-Cited by-同舟云学术

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Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides

Published:2006 Issue:5 Volume:27 Page:420-426
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Vetrini Francesco,Tammaro Roberta,Bondanza Sergio,Surace Enrico M.,Auricchio Alberto,De Luca Michele,Ballabio Andrea,Marigo Valeria

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference29 articles.

1. Comparative analysis of antisense oligonucleotide analogs for targeted DMD exon 46 skipping in muscle cells

2. , , , , , . 1990. Current protocols in molecular biology. New York: John Wiley & Sons, Inc.

3. Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome

4. Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America

5. Localization of the X-linked ocular albinism gene (OA1) between DXS278/DXS237 and DXS143/DXS16 by linkage analysis

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1. CRISPR-AsCas12a Efficiently Corrects a GPR143 Intronic Mutation in Induced Pluripotent Stem Cells from an Ocular Albinism Patient;The CRISPR Journal;2022-06-01

2. Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing;Frontiers in Genetics;2022-01-24

3. Opportunities and challenges for antisense oligonucleotide therapies;Journal of Inherited Metabolic Disease;2020-06-03

4. Generation of a human Ocular Albinism type 1 iPSC line, SEIi001-A, with a mutation in GPR143;Stem Cell Research;2018-12

5. Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test;Genetics in Medicine;2018-04

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