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在过度表达FRG1的小鼠中表皮肌肌变

Davide Gabellini1, Giuseppe D'Antona, Maurizio Moggio

  • 1Howard Hughes Medical Institute, Programs in Gene Function and Expression and Molecular Medicine, University of Massachusetts Medical School, Worcester, Massachusetts 01605, USA.

Nature
|December 13, 2005
PubMed
概括

面肌肌缩症 (FSHD) 与D4Z4缺失有关,导致FRG1基因过度表达. 这种过度表达导致患者和FRG1转基因小鼠的异常RNA剪接和肌肉发育不良.

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The color of the skin is influenced by a number of pigments, including melanin, carotene, and hemoglobin. Recall that melanin is produced by cells called melanocytes, which are found scattered throughout the stratum basale of the epidermis. The melanin is transferred to the keratinocytes via melanosomes.
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