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Updated: Jul 20, 2026

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失去Pax3会导致小鼠发育中的耳中的黑色素细胞减少

Tomokatsu Udagawa1,2,3, Erisa Takahashi4,5, Norifumi Tatsumi5

  • 1Department of Otorhinolaryngology, The Jikei University School of Medicine, 3-25-8 Nishi-Shimbashi, Minato-ku, Tokyo, 105-8461, Japan. entudagawa@jikei.ac.jp.

Scientific reports
|January 26, 2024
PubMed
概括

Pax3对于耳黑色细胞的发育至关重要. 其缺乏导致黑色素细胞减少,可能导致与瓦登堡综合征相关的先天性听力损失.

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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,...