相关实验视频

Updated: Jul 8, 2025

A Patient-Derived Xenograft Model for Venous Malformation

A Patient-Derived Xenograft Model for Venous Malformation

Published on: June 15, 2020

单侧细分呈现和新型EPHB4基因变异在毛细血管形-动脉静脉形2型

C Valente¹, M B Caldeira¹, B Duarte¹

¹Dermatology and Venereology Department, Centro Hospitalar Universitário de Lisboa Central, Lisbon, Portugal.

Pediatric dermatology

|December 13, 2023

概括

毛细血管形-动脉静脉形 (CM-AVM) 2型是一种罕见的遗传疾病. 这份报告详细介绍了一个患有新型EPHB4基因变异的儿童的独特病例,扩大了对这种疾病的理解.

科学领域:

遗传学遗传学是一个
血管形症血管形症
发展生物学发展生物学

背景情况:

毛细血管形-动脉静脉形 (CM-AVM) 是一种罕见的自体主导性疾病.
它经常与EPHB4基因的功能丧失突变有关.
了解遗传基础和临床表现对于诊断和管理至关重要.

研究的目的:

在儿科患者中报告CM-AVM类型2的独特表现.
为了识别和描述与这种疾病相关的新型EPHB4基因变异.
为有关EPHB4相关血管异常的文献做出贡献.

主要方法:

临床病例介绍和详细的表型.
针对EPHB4基因的下一代测序.
变体分析和文献综述.

主要成果:

一个6岁的女孩出现了单边细分毛细血管形和过度生长.
在EPHB4基因中发现了一种新型异合体变异 (c.715T>A,p[Cys239Ser]).
这一发现扩大了CM-AVM 2型中已知的EPHB4突变的范围.

结论:

这种病例代表了CM-AVM类型2的独特临床表现.
新发现的EPHB4变异为CM-AVM的遗传病因提供了进一步的洞察力.
需要进一步的研究,以了解这种新型变异的功能影响.

关键词:

在 EphB4 中.毛细血管形-动脉静脉形形毛细血管发育不良毛细血管发育不良

更多相关视频

Whole-mount Immunohistochemical Analysis for Embryonic Limb Skin Vasculature: a Model System to Study Vascular Branching Morphogenesis in Embryo

Whole-mount Immunohistochemical Analysis for Embryonic Limb Skin Vasculature: a Model System to Study Vascular Branching Morphogenesis in Embryo

Published on: May 20, 2011

In Vitro Three-Dimensional Sprouting Assay of Angiogenesis Using Mouse Embryonic Stem Cells for Vascular Disease Modeling and Drug Testing

In Vitro Three-Dimensional Sprouting Assay of Angiogenesis Using Mouse Embryonic Stem Cells for Vascular Disease Modeling and Drug Testing

Published on: May 11, 2021

相关概念视频

Esophageal Varices-I: Introduction

Esophageal Varices-I: Introduction

Esophageal varices are dilated, tortuous veins which are found mainly in the submucosa of the lower esophagus but which may also appear higher up or extend into the stomach. They develop due to increased pressure in the portal venous system, often as a result of liver cirrhosis. This condition scars and damages the liver, impeding normal blood flow through the portal vein. To compensate, blood seeks alternative pathways, forming fragile new vessels (varices) in the esophagus and stomach. These...