相关实验视频

Updated: Jan 20, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Published on: December 20, 2017

识别与婴儿发作的佩病相关的miRNAs

Harun Bayrak^1,2, Fatma Tosun³

¹Department of Molecular Medicine, Graduate School of Health Sciences, TOBB University of Economics and Technology, Ankara, Turkey.

Molecular syndromology

|January 19, 2026

概括

婴儿发作的庞培病 (IOPD) 诊断是具有挑战性的,因为非特异性症状. 这项研究确定了10种针对GAA基因的微RNA (miRNA),为早期IOPD检测和管理提供了潜在的生物标志物.

科学领域:

遗传学和分子生物学
生物化学生物化学
儿科医学儿科医学

背景情况:

婴儿发病的庞培病 (IOPD) 呈现出非特异性症状,延迟了诊断和治疗.
诊断的挑战包括低临床怀疑和延迟识别.
微RNAs (miRNAs) 正在研究它们在IOPD病变发生中的作用.

研究的目的:

阐明miRNAs在IOPD病变发生过程中的功能性作用和关联.
为解决IOPD的诊断和治疗挑战.
为了确定潜在的miRNA生物标志物用于IOPD的早期诊断和管理.

主要方法:

对IOPD和对照样本的基因表达差异分析 (GSE38680).
使用KEGG,GO和Reactome数据库进行路径分析.
使用R包进行miRNA表达分析和预测miRNA-基因相互作用.

主要成果:

在IOPD样本中鉴定了1967个差异表达基因 (DEG).
路径分析突出显示了肌肉功能和溶酶体路径.
预测了10个针对GAA基因3'-UTR的miRNA.

结论:

早期诊断IOPD对于预防不可逆转的器官损伤至关重要.
循环中的miRNAs显示出作为IOPD诊断,严重程度和治疗反应的生物标志物的潜力.
高通量技术确定了IOPD的潜在miRNA.

关键词:

生物信息学是一种生物信息学.糖原储存疾病II类型婴儿发病的庞培病.路径分析路径分析这是一个微型RNA.

更多相关视频

mirMachine: A One-Stop Shop for Plant miRNA Annotation

mirMachine: A One-Stop Shop for Plant miRNA Annotation

Published on: May 1, 2021

Delivery of Exogenous Artificially Synthesized miRNA Mimic to the Kidney Using Polyethylenimine Nanoparticles in Several Kidney Disease Mouse Models

Delivery of Exogenous Artificially Synthesized miRNA Mimic to the Kidney Using Polyethylenimine Nanoparticles in Several Kidney Disease Mouse Models

Published on: May 10, 2022

相关概念视频

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

There is a demand to make pre-clinical testing for a novel class of "orphan" drugs called pharmacological chaperones reproducible, fast, and efficient. We developed a simple, highly standardized, and versatile cell culture-based assay to screen for eligible patients as well as novel pharmacological chaperone...

mirMachine: A One-Stop Shop for Plant miRNA Annotation

mirMachine: A One-Stop Shop for Plant miRNA Annotation

Herein, we present a new and fully automated miRNA pipeline, mirMachine that 1) can identify known and novel miRNAs more accurately and 2) is fully automated and freely available. Users can now execute a short submission script to run the fully automated mirMachine...

Delivery of Exogenous Artificially Synthesized miRNA Mimic to the Kidney Using Polyethylenimine Nanoparticles in Several Kidney Disease Mouse Models

Delivery of Exogenous Artificially Synthesized miRNA Mimic to the Kidney Using Polyethylenimine Nanoparticles in Several Kidney Disease Mouse Models

Here, we deliver exogenous artificially synthesized miRNA mimics to the kidney via tail vein injection of a nonviral vector and polyethylenimine nanoparticles in several kidney disease mouse models. This led to significant overexpression of target miRNA in the kidney, resulting in inhibited progression of kidney disease in several mouse models.

miRNA Extraction: A Method to Extract miRNA from Plasma Sample

miRNA Extraction: A Method to Extract miRNA from Plasma Sample

MicroRNAs (miRNAs) are tissue specific, small, non-coding RNAs regulating gene expression, and could represent ideal candidates for early detection of lung cancer. In the featured protocol, we will isolate microRNA from patient blood samples for early lung cancer...

Circulating miRNA Extraction: A Method to Isolate miRNA from Plasma Samples Via Organic Extraction and Small RNA Enrichment

Circulating miRNA Extraction: A Method to Isolate miRNA from Plasma Samples Via Organic Extraction and Small RNA Enrichment

This video describes the extraction of circulating microRNA from plasma samples of colorectal cancer patients using organic extraction followed by glass-fiber column enrichment. miRNAs are stable in biological fluids such as serum and plasma, which renders them ideal circulating biomarkers for cancer diagnosis, prognosis, and treatment decision-making and monitoring. This method will help identify new circulating biomarkers capable of predicting clinical outcomes in...

Modelling Intratumoral Treatment with miRNA Inhibitors: A Method to Analyze the Effect of miRNA Inhibitors on Tumor Growth in Murine Model

Modelling Intratumoral Treatment with miRNA Inhibitors: A Method to Analyze the Effect of miRNA Inhibitors on Tumor Growth in Murine Model

This video demonstrates the in vivo delivery of miRNA inhibitors as therapeutic agents against tumor growth in orthotopic mouse models. The intratumoral administration of synthetic miRNA inhibitors or antagomiRs allows them to bind and inhibit endogenous miRNAs, thereby causing mRNA upregulation and suppression of tumor...