関連する実験動画

Updated: Mar 27, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

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

Published on: August 20, 2019

14.5K

病気に関連したヒトSCN5A変異の驚くべきIn vivoフェノタイプは,in vitroでは最小限の変化を生じさせる

Hiroshi Watanabe1, Tao Yang, Dina Myers Stroud

  • 1Department of Medicine, Vanderbilt University School of Medicine, 2215B Garland Ave, 1285 MRBIV Light Hall, Nashville, TN 37232-0575, USA.

Circulation
|August 10, 2011
PubMed
まとめ

D1275N SCN5A変異は,実験室での検査で正常に見えるにもかかわらず,心臓のナトリウム電流を減らすことにより,心律異常や拡張性心筋症などの心臓問題を引き起こします. この研究は,その病理学的役割をin vivoで確認しています.

さらに関連する動画

A Rapid and Facile Pipeline for Generating Genomic Point Mutants in C. elegans Using CRISPR/Cas9 Ribonucleoproteins08:37

A Rapid and Facile Pipeline for Generating Genomic Point Mutants in C. elegans Using CRISPR/Cas9 Ribonucleoproteins

Published on: April 30, 2018

8.2K
In Vivo Modeling of the Morbid Human Genome using Danio rerio12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

21.5K

関連する概念動画

Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
44.0K