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Exon Skipping Therapies for Rare Kidney Diseases.

作者信息

Yamamura Tomohiko, Nozu Kandai

机构信息

Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.

出版信息

J Am Soc Nephrol. 2025 May 1;36(5):967-969. doi: 10.1681/ASN.0000000623. Epub 2025 Jan 8.

Abstract
摘要

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本文引用的文献

1
Spectrum and frequencies of extraocular features reported in CEP290-associated ciliopathy - A systematic review.
J Fr Ophtalmol. 2024 Oct;47(8):104232. doi: 10.1016/j.jfo.2024.104232. Epub 2024 Aug 29.
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Diagnostic Utility of Exome Sequencing for Kidney Disease.
N Engl J Med. 2019 Jan 10;380(2):142-151. doi: 10.1056/NEJMoa1806891. Epub 2018 Dec 26.
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Targeted exon skipping of a mutation rescues Joubert syndrome phenotypes in vitro and in a murine model.
Proc Natl Acad Sci U S A. 2018 Dec 4;115(49):12489-12494. doi: 10.1073/pnas.1809432115. Epub 2018 Nov 16.
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Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing.
Nat Genet. 2008 Dec;40(12):1413-5. doi: 10.1038/ng.259. Epub 2008 Nov 2.
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Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes.
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