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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Spectrum and frequencies of extraocular features reported in CEP290-associated ciliopathy - A systematic review.CEP290 相关纤毛病中外眼特征的频谱和频率——系统评价。
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Development of an exon skipping therapy for X-linked Alport syndrome with truncating variants in COL4A5.开发一种针对 X 连锁 Alport 综合征的外显子跳跃治疗方法，该方法针对 COL4A5 中的截断变异。
Nat Commun. 2020 Jun 2;11(1):2777. doi: 10.1038/s41467-020-16605-x.
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Diagnostic Utility of Exome Sequencing for Kidney Disease.外显子组测序在肾脏疾病诊断中的应用。
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Targeted exon skipping of a mutation rescues Joubert syndrome phenotypes in vitro and in a murine model.靶向突变外显子跳跃可在体外和小鼠模型中挽救杰特综合征表型。
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Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study.系统注射磷酰胺吗啉寡聚物治疗杜氏肌营养不良症患者的外显子跳跃和肌营养不良蛋白修复：一项开放标签、2 期、剂量递增研究。
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X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study.X连锁遗传性肾炎：195个家庭中女性患者的自然病史及基因型-表型相关性：一项“欧洲共同体遗传性肾炎联合行动”研究
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Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes.奥尔波特综合征。一种遗传性的肾脏、眼部和耳蜗基底膜疾病。
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Modulation of in vitro splicing of the upstream intron by modifying an intra-exon sequence which is deleted from the dystrophin gene in dystrophin Kobe.通过修饰肌营养不良蛋白神户型中从肌营养不良蛋白基因中缺失的外显子内序列来调节上游内含子的体外剪接。
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