相关实验视频

Updated: Jul 27, 2025

Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides

Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides

Published on: May 7, 2020

在DMD基因中的介插入:一个难以临床解释的难题

Annalaura Torella^1,2, Alberto Budillon¹, Mariateresa Zanobio¹

¹Department of Precision Medicine, University of Campania "Luigi Vanvitelli", Via L. De Crecchio 7, 80138 Naples, Italy.

International journal of molecular sciences

|June 10, 2023

概括

罕见的转位子插入缩蛋白 (DMD) 基因可以导致不可预测的肌肉缩现象型. 这一案例揭示了Alu序列插入如何导致外显子跳转,预测DMD的结果比预期的要温和.

科学领域:

遗传学是一个遗传学.
分子生物学分子生物学
神经学神经学

背景情况:

破坏性基因 (DMD) 基因的变异会导致杜氏/贝克尔肌肉发育不良 (DMD/BMD) 或CK高血症.
临床严重程度差异很大,使得早期诊断具有挑战性.
从DNA变异中准确预测表型至关重要,这可能会减少像肌肉活检这样的侵入性测试的需要.

关键词:

通过介导的转位子插入.贝克尔肌肉缩症贝克尔肌肉缩症在 DMD DMD 里面,你会发现记录-PCR 记录突出跳过的突出跳过

更多相关视频

Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy

Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy

Published on: May 24, 2016

Adeno-Associated Virus-Mediated Delivery of CRISPR for Cardiac Gene Editing in Mice

Adeno-Associated Virus-Mediated Delivery of CRISPR for Cardiac Gene Editing in Mice

Published on: August 2, 2018

相关概念视频

Mismatch Repair

Mismatch Repair

Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...