CBS 2019
CBSMD教育中心
English

科学研究

科研文章

荐读文献

Is intravascular ultrasound beneficial for percutaneous coronary intervention of bifurcation lesions? Evidence from a 4,314-patient registry Health Status After Transcatheter Versus Surgical Aortic Valve Replacement in Low-Risk Patients With Aortic Stenosis Discrepancies in Measurement of the Thoracic Aorta: JACC Review Topic of the Week Optimal duration of dual antiplatelet therapy after drug-eluting stent implantation: a randomized, controlled trial. High-risk plaque detected on coronary CT angiography predicts acute coronary syndromes independent of significant stenosis in acute chest pain: results from the ROMICAT-II trial Chimney technique in a TAVR-in-TAVR procedure with high risk of left main artery ostium occlusion Third-Generation Balloon and Self-Expandable Valves for Aortic Stenosis in Large and Extra-Large Aortic Annuli From the TAVR-LARGE Registry Prognostic implications of baseline 6‐min walk test performance in intermediate risk patients undergoing transcatheter aortic valve replacement Predictors and Clinical Outcomes of Next-Day Discharge After Minimalist Transfemoral Transcatheter Aortic Valve Replacement Prevalence and Outcomes of Concomitant Aortic Stenosis and Cardiac Amyloidosis
|<<... 99 100 101 102 103 104 105 ...>>|

Original Research2017 Aug 24;548(7668):413-419.

JOURNAL：Nature. Article Link

Correction of a pathogenic gene mutation in human embryos

Ma H, Marti-Gutierrez N, Mitalipov S et al. Keywords: genome editing; MYBPC3 mutation; inherited hypertrophic cardiomyopathy

ABSTRACT

Genome editing has potential for the targeted correction of germline mutations. Here we describe the correction of the heterozygous MYBPC3 mutation in human preimplantation embryos with precise CRISPR-Cas9-based targeting accuracy and high homology-directed repair efficiency by activating an endogenous, germline-specific DNA repair response. Induced double-strand breaks (DSBs) at the mutant paternal allele were predominantly repaired using the homologous wild-type maternal gene instead of a synthetic DNA template. By modulating the cell cycle stage at which the DSB was induced, we were able to avoid mosaicism in cleaving embryos and achieve a high yield of homozygous embryos carrying the wild-type MYBPC3 gene without evidence of off-target mutations. The efficiency, accuracy and safety of the approach presented suggest that it has potential to be used for the correction of heritable mutations in human embryos by complementing preimplantation genetic diagnosis. However, much remains to be considered before clinical applications, including the reproducibility of the technique with other heterozygous mutations.

>CBS CBS 2019

> CBS 2019

> CBS 2019 注册

> CBS 2019 会议日程

> CBS 2019 学术征集

> CBS 2019 热点

 CBSMD

> CBSMD 网站注册

> 教育中心

> 荐读文献

> Top 10 阅读文献

> 文献导读
CBS 2019 CBS 2019 主席团 教育中心 科研动态
Copyright ⓒ CBS MD Nanjing China. All rights reserved. 京ICP备16025898号-11
联系我们| Top