SMI-049 specific SNPs resulting in premature stop codons.

NIAID Data Ecosystem2026-03-06 收录

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基因功能丧失

数据链接：

https://figshare.com/articles/dataset/_SMI_049_specific_SNPs_resulting_in_premature_stop_codons_/472913 数据链接链接失效反馈

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SMI-049 specific SNPs resulting in premature stop codons.

创建时间：

2011-01-31

A Lack of Premature Termination Codon Read-Through Efficacy of PTC124 (Ataluren) in a Diverse Array of Reporter Assays

无义突变通读

药物机制研究

The drug molecule PTC124 (Ataluren) has been described as a read-through agent, capable of suppressing premature termination codons (PTCs) and restoring functional protein production from genes disrup

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Erythromycin Treatment for Readthrough of APC Gene Stop Codon Mutation in Familial Adenomatous Polyposis-minors’ Adjusted Version

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家族性腺瘤性息肉病靶向干预

Colorectal cancer (CRC) is a leading cause for cancer related mortality in the western world with a lifetime risk of 6%. Etiology is complex, while genetic background significantly affects the risk. A

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Decreasing EloC expression suppresses ectopic veins induced by blistered loss-of-function.

基因功能丧失

果蝇遗传学

The upper allele was brought by the mother. The number of EloC/bsEY23316 females with ectopic veins was compared to the number of +/bsEY23316 females with ectopic veins (z-test, a p<0.001). The mild e

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Data from: Evidence for repeated loss of selective constraint in rhodopsin of amblyopsid cavefishes (Teleostei: Amblyopsidae)

进化生物学

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The genetic mechanisms underlying regressive evolution—the degeneration or loss of a derived trait—are largely unknown, particularly for complex structures such as eyes in cave organisms. In several e

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CRISPR-pass

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碱基编辑

CRISPR-pass is a method for read-through PTCs by A to G substition using ABEs.It contains NGS data for schematic restorationg of EGFP embedding PTCs and XPC gene in patient fibroblast.

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SMI-049 specific SNPs resulting in premature stop codons.

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