Generation of three induced pluripotent stem cell lines from an isolated inherited retinal dystrophy patient with RCBTB1 frameshifting mutations-Reference-Cited by-同舟云学术

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Generation of three induced pluripotent stem cell lines from an isolated inherited retinal dystrophy patient with RCBTB1 frameshifting mutations

Published:2019-10 Issue: Volume:40 Page:101549
ISSN:1873-5061
Container-title:Stem Cell Research
language:en
Short-container-title:Stem Cell Research

Author:

Huang Zhiqin,Zhang Dan,Chen Shang-Chih,Thompson Jennifer A.,McLaren Terri,Lamey Tina,De Roach John N.,McLenachan Samuel^ORCID,Chen Fred K.

Funder

National Health & Medical Research Council, Australia

(Centre of Research Excellence and Career Development Fellowships

the Government of Western Australia

Department of Health, New Independent Researcher Infrastructure Support Award, FKC)

Retina Australia

Publisher

Elsevier BV

Subject

Cell Biology,Developmental Biology,General Medicine

Reference3 articles.

1. Isolated and syndromic retinal dystrophy caused by biallelic mutations in RCBTB1, a gene implicated in ubiquitination;Coppieters;Am. J. Hum. Genet.,2016

2. High-throughput and cost-effective characterization of induced pluripotent stem cells;D'Antonio;Stem cell Rep.,2017

3. Haploinsufficiency of RCBTB1 is associated with coats disease and familial exudative vitreoretinopathy;Wu;Hum. Mol. Genet.,2016

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Identification of risk genes and biological pathways influencing myopia via transcriptome association study and biomedical ontology methods;2023 IEEE International Conference on Bioinformatics and Biomedicine (BIBM);2023-12-05

2. Mitochondrial Dysfunction and Impaired Antioxidant Responses in Retinal Pigment Epithelial Cells Derived from a Patient with RCBTB1-Associated Retinopathy;Cells;2023-05-10

3. Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy;Ophthalmic Genetics;2022-01-20

4. Gene replacement therapy restores RCBTB1 expression and cilium length in patient‐derived retinal pigment epithelium;Journal of Cellular and Molecular Medicine;2021-10-07

5. Deep clinical phenotyping and gene expression analysis in a patient with RCBTB1-associated retinopathy;Ophthalmic Genetics;2021-02-24

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