María Teresa Espinosa García scite author profile

Summary 隐性营养不良性大疱性表皮松解症(RDEB)、Kindler综合征 (KS) 和 C 组着色性干皮病(XPC) 是三种令患者发生癌症风险增加的遗传性皮肤疾病(遗传性皮肤病) 。仍未充分了解在这些疾病中导致癌症的事件, 包括在皮肤水平发生的事件, 尽管已对它们进行了深入调查。为了加深对于这些罕见病的认识,最终发现新的治疗, 西班牙研究小组调查了来自 RDEB、KS 和 XPC 患者的一种称为真皮纤维母细胞的皮肤细胞的基因表达谱 (标签) 。研究者们发现, 来自这三种遗传皮肤病的纤维母细胞都有大量以相同方式异常(错误)表达的基因。它们反过来转化成一种活化表型, 导致真皮 (一层皮肤) 硬度变化和氧化还原 (一种化学反应)状态失衡。这一重叠标签似乎不依赖于导致缺乏缺陷 (即 VII 型胶原、kindlin‐1 或 XPC 的丢失) 的原发疾病,而是尚未充分了解的常见损伤‐反应性事件的结果。总而言之, 该研究为真皮纤维母细胞在 RDEB、XPC 和 KS 中所扮演角色添加了最新认识, 并强调了可能的新治疗靶点。

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Meiotic spindle transfer overcomes embryo developmental arrest in compromised oocytes: proof of concept in the mouse model

Costa-Borges¹,

Mestres²,

Miguel-Escalada

et al. 2017

Fertility and Sterility

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María Teresa Espinosa García

Pre-clinical validation of a closed surface system (Cryotop SC) for the vitrification of oocytes and embryos in the mouse model

Lipocortins and phospholipase A2 regulation

遗传性皮肤病中的纤维母细胞活化和 Ecm 重塑

Meiotic spindle transfer overcomes embryo developmental arrest in compromised oocytes: proof of concept in the mouse model

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