関連する実験動画

Updated: Feb 17, 2026

Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound 30/45MHZ System
07:34

Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound 30/45MHZ System

Published on: May 5, 2018

12.4K

症例報告:先天性心疾患における新たに発見されたELN遺伝子変異:症例分析とレビュー

Peiwen Cheng1, Guozhen Wang1, Jialin Qiu1

  • 1National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Structural Birth Defect and Reconstruction, Department of Thoracic Surgery, Children's Hospital of Chongqing Medical University, Chongqing, China.

Frontiers in pediatrics
|February 16, 2026
PubMed
まとめ

エクソン28の新型エラスティン (ELN) 遺伝子変異は,家族の中で上弁動脈大動脈狭窄症 (SVAS) を引き起こした. この発見は,非症候群性SVASのスペクトルを拡大し,遺伝子検査とモニタリングの必要性を強調しています.

キーワード:
ケースレポート ケースレポートエラスティンの突然変異フレームシフトのバリエーションであるフレームシフトのバリエーション.ハプロイン不十分症候群小児心臓病の心臓病学について上弁動脈上大動脈狭窄症について

さらに関連する動画

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

9.1K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

14.4K

関連する概念動画

Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
539
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
9