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Updated: Mar 27, 2026

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令人惊的是,与疾病相关的人类SCN5A突变的体内表型,在体外产生最小的变化

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
概括

D1275N SCN5A突变通过减少心脏电流,导致心律失常和扩张性心肌病等心脏问题,尽管在实验室测试中看起来正常. 这项研究证实了它在生物体内 (in vivo) 的病理作用.

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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,...
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