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Updated: Jan 16, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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在渐进性伪风湿性发育不良症中,编码WISP3的CCN6变体的分子后果

Gulipek Guven Tasbicen1,2, Ali Tufan2, Batuhan Savsar2

  • 1Department of Medical Biotechnology, Institute of Health Sciences, Acibadem Mehmet Ali Aydinlar University, 34752 Istanbul, Turkey.

International journal of molecular sciences
|September 27, 2025
PubMed
概括

渐进性伪风湿性发育不良症 (PPD) 是一种罕见的软骨疾病. 这项研究揭示了不同的CCN6变异如何影响WISP3蛋白功能,影响细胞健康和细胞外基质,这对于理解PPD至关重要.

关键词:
在WNT1诱导信号通路蛋白3中.蜂通信网络因子6 (CCN6) 是一个因子.细胞内膜网膜的压力应激渐进的伪风湿性发育不良症.

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