Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes-Reference-Cited by-同舟云学术

Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes

Published:2010-03-15 Issue:5 Volume:31 Page:E1361-E1376
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Towns Katherine V.,Kipioti Athina,Long Vernon,McKibbin Martin,Maubaret Cecilia,Vaclavik Veronika,Ehsani Parastoo,Springell Kelly,Kamal Mohammed,Ramesar Raj S.,Mackey David A.,Moore Anthony T.,Mukhopadhyay Rajarshi,Webster Andrew R.,Black Graeme C.M.,O'Sullivan James,Bhattacharya Shomi S.,Pierce Eric A.,Beggs Jean D.,Inglehearn Chris F.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.21236/fullpdf

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1. PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5´-splice-site selection causing tissue-specific defects;Nature Communications;2024-04-11

2. Retinitis pigmentosa–associated mutations in mouse Prpf8 cause misexpression of circRNAs and degeneration of cerebellar granule cells;Life Science Alliance;2023-04-05

3. Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies;Biomolecules;2023-02-01

4. Retinitis pigmentosa associated mutations in mouse Prpf8 cause misexpression of circRNAs and degeneration of cerebellar granule neurons;2022-11-01

5. Intermediate Uveitis in Retinitis Pigmentosa Associated with a Novel Homozygous Splice Site Mutation in PRPF8;Middle East African Journal of Ophthalmology;2022-01