関連する実験動画

Updated: Sep 9, 2025

In Vivo Modeling of the Morbid Human Genome using Danio rerio
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In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

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マルチシステム疾患におけるFLNA変異: 説明不可能な弁および結合組織疾患の診断鍵

Mary E Hoffman1, Abdalla Eltayeb A Abdelkader1, Rahul Chhana1

  • 1Baylor Scott and White The Heart Hospital, Plano, Texas, USA.

JACC. Case reports
|August 29, 2025
PubMed
まとめ

多弁性疾患とケロイド形成の患者で新しいFLNA変異が検出されました. この発見は,FLNAに関連した結合組織,心血管,骨格疾患のスペクトルを拡大します.

キーワード:
双動脈弁エコーカルディオグラフィー遺伝的疾患遺伝子型ミトラルバルブフェノタイプ狭窄症バルブ交換

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Alternative RNA Splicing02:18

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
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The key clinical manifestations of Rheumatic heart disease (RHD) include several distinct cardiac symptoms.Carditis, a hallmark of acute rheumatic fever, involves inflammation of the heart's endocardium, myocardium, and pericardium. Chronic RHD often results from recurrent episodes of carditis. Its symptoms include the following:Murmurs are caused by valvular damage, especially to the mitral and aortic valves. Mitral stenosis or regurgitation is common, with characteristic heart murmurs...
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Mitral Valve Prolapse I: Introduction

IntroductionThe mitral valve, one of the heart's four valves, regulates blood flow. These valves have flaps that open and close to direct blood properly through the heart and body. During each heartbeat, the flaps open for blood to pass through and seal shut to prevent backflow. Specifically, the mitral valve opens to allow blood flow from the heart's upper left chamber to the lower left chamber. It then closes securely as the lower left chamber contracts to pump blood to the body, preventing...
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