Aberrant RNA splicing is the major pathogenic effect in a knock‐in mouse model of the dominantly inherited c.1430A>G humanRPE65mutation-Reference-Cited by-同舟云学术

Aberrant RNA splicing is the major pathogenic effect in a knock‐in mouse model of the dominantly inherited c.1430A>G humanRPE65mutation

Published:2019-01-25 Issue:4 Volume:40 Page:426-443
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Li Yan¹,Furhang Rachel¹,Ray Amanda¹,Duncan Todd¹,Soucy Joseph¹,Mahdi Rashid¹,Chaitankar Vijender²,Gieser Linn²,Poliakov Eugenia¹,Qian Haohua³,Liu Pinghu⁴,Dong Lijin⁴,Rogozin Igor B.⁵,Redmond T. Michael¹^ORCID

Affiliation:

1. Laboratory of Retinal Cell & Molecular BiologyNational Eye Institute, NIH Bethesda Maryland

2. Neurobiology‐Neurodegeneration & Repair LaboratoryNational Eye Institute, NIH Bethesda Maryland

3. Visual Function CoreNational Eye Institute, NIH Bethesda Maryland

4. Genetic Engineering CoreNational Eye Institute, NIH Bethesda Maryland

5. National Center for Biotechnology InformationNational Library of Medicine, NIH Bethesda Maryland

Funder

Intramural Research Program of National Eye Institute, NIH

Intramural Research Program of National Library of Medicine, NIH

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23706

Reference70 articles.

1. Predicting functional effect of human missense mutations using PolyPhen‐2;Adzhubei I.;Current Protocols in Human Genetics, Chapter,2013

2. Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark

3. A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement

4. Near-optimal probabilistic RNA-seq quantification

5. Guide RNA Functional Modules Direct Cas9 Activity and Orthogonality

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