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Updated: Jan 9, 2026

Author Spotlight: Exploring the Role of Inflammation in the Co-occurrence of Primary Sjogren's Syndrome and Lung Adenocarcinoma
10:21

Author Spotlight: Exploring the Role of Inflammation in the Co-occurrence of Primary Sjogren's Syndrome and Lung Adenocarcinoma

Published on: September 20, 2024

705

与马里内斯科-肖格伦综合征相关的新型SIL1变体 (p.E342K) 损害了蛋白质稳定性和功能

Anna Giulia Ruggieri1,2, Nikolaos M Marinakis3,4, Laura Amodei1,2

  • 1Department of Innovative Technologies in Medicine and Dentistry, "G. d'Annunzio" University of Chieti-Pescara, 66100 Chieti, Italy.

International journal of molecular sciences
|December 11, 2025
PubMed
概括

马里内斯科-斯约格伦综合征 (MSS) 是一种罕见的神经肌肉疾病. 我们在一名患者身上发现了一种新的致病性SIL1变体 (p.E342K),为MSS机制和基因型-表型相关性提供了洞察力.

关键词:
这就是VUS VUS VUS.亚达克西亚 亚达克西亚 亚达克西亚 亚达克西亚陪伴者 (chaperones) 是指一个陪伴者.骨髓病变是一种神经病变.神经退行性疾病是一种神经退行性疾病.蛋白质组学 蛋白质组学不知意义的变种.

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