【唐氏综合征患者认知缺陷的研究进展】。

Q4 Medicine

中华医学遗传学杂志 Pub Date : 2024-12-10 DOI:10.3760/cma.j.cn511374-20240624-00350

Weili Shi, Shixiu Liao

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引用次数: 0

摘要

唐氏综合症是最常见的与生命相容的染色体疾病，是由21号染色体的额外拷贝引起的。几乎所有退行性椎体滑移患者都有认知功能障碍。因此，研究其潜在的发病机制以阐明其分子基础具有重要意义。本文就与退行性痴呆患者认知功能障碍密切相关的NRIP1和DYRK1A基因的分子机制进行综述。综述了退行性痴呆机制的研究进展以及基于这些研究的新治疗策略的发展，以期为退行性痴呆患者认知功能障碍的预防和治疗提供见解。

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[Research progress on the cognitive deficit of Down syndrome patients].

As the most common chromosomal disorder compatible to life, Down syndrome (DS) is caused by an extra copy of chromosome 21. Almost all DS patients have cognitive dysfunction. Therefore, it is important to study the underlying pathogenetic mechanism to elucidate its molecular basis. This article has provided a review for the molecular mechanisms of NRIP1 and DYRK1A genes, which have been closely associated with the cognitive dysfunctions of DS patients. It has also summarized the research progress on the mechanism of DS and development of new therapeutic strategies based on such studies, with an aim to provide insights into the prevention and treatment for the cognitive dysfunctions in DS patients.

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来源期刊

中华医学遗传学杂志 Medicine-Medicine (all)

CiteScore

0.50

自引率

0.00%

发文量

9521

期刊介绍： Chinese Journal of Medical Genetics is a medical journal, founded in 1984, under the supervision of the China Association for Science and Technology, sponsored by the Chinese Medical Association (hosted by Sichuan University), and is now a monthly magazine, which attaches importance to academic orientation, adheres to the scientific, scholarly, advanced, and innovative, and has a certain degree of influence in the industry. Chinese Journal of Medical Genetics is a journal of Peking University, and is now included in Peking University Journal (Chinese Journal of Humanities and Social Sciences), CSCD Source Journals of Chinese Science Citation Database (with extended version), Statistical Source Journals (China Science and Technology Dissertation Outstanding Journals), Zhi.com (in Chinese), Wipu (in Chinese), Wanfang (in Chinese), CA Chemical Abstracts (U.S.), JST (Japan Science and Technology Science and Technology), and JST (Japan Science and Technology Science and Technology Research Center). ), JST (Japan Science and Technology Agency), Pж (AJ) Abstracts Journal (Russia), Copernicus Index (Poland), Cambridge Scientific Abstracts, Abstracts and Citation Database, Abstracts Magazine, Medical Abstracts, and so on.