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脑瘫的综合多组学研究:当前进展与未来展望

Integrative Multi-Omics Research in Cerebral Palsy: Current Progress and Future Prospects.

作者信息

Xin Chengqi, Guan Xin, Wang Liang, Liu Jing

机构信息

Stem Cell Clinical Research Center, The First Affiliated Hospital of Dalian Medical University, No. 193, Lianhe Road, Shahekou District, 116011, Dalian City, Liaoning Province, P.R. China.

Dalian Innovation Institute of Stem Cell and Precision Medicine, No. 57, Xinda Street, Dalian High-Tech Park, 116023, Dalian City, Liaoning Province, P.R. China.

出版信息

Neurochem Res. 2023 May;48(5):1269-1279. doi: 10.1007/s11064-022-03839-y. Epub 2022 Dec 13.

DOI:10.1007/s11064-022-03839-y
PMID:36512293
Abstract

Cerebral palsy (CP) describes a heterogeneous group of non-progressive neurodevelopmental disorders affecting movement and posture. The etiology and diagnostic biomarkers of CP are a hot topic in clinical research. Recent advances in omics techniques, including genomics, epigenomics, transcriptomics, metabolomics and proteomics, have offered new insights to further understand the pathophysiology of CP and have allowed for identification of diagnostic biomarkers of CP. In present study, we reviewed the latest multi-omics investigations of CP and provided an in-depth summary of current research progress in CP. This review will offer the basis and recommendations for future fundamental research on the pathogenesis of CP, identification of diagnostic biomarkers, and prevention strategies for CP.

摘要

脑瘫(CP)是一组影响运动和姿势的异质性非进行性神经发育障碍。脑瘫的病因和诊断生物标志物是临床研究中的热点话题。包括基因组学、表观基因组学、转录组学、代谢组学和蛋白质组学在内的组学技术的最新进展,为进一步理解脑瘫的病理生理学提供了新的见解,并有助于识别脑瘫的诊断生物标志物。在本研究中,我们回顾了脑瘫的最新多组学研究,并对脑瘫的当前研究进展进行了深入总结。本综述将为未来关于脑瘫发病机制的基础研究、诊断生物标志物的识别以及脑瘫的预防策略提供依据和建议。

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本文引用的文献

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TNAP-a potential cytokine in the cerebral inflammation in spastic cerebral palsy.组织非特异性碱性磷酸酶——痉挛型脑瘫脑内炎症中的一种潜在细胞因子
Front Mol Neurosci. 2022 Sep 14;15:926791. doi: 10.3389/fnmol.2022.926791. eCollection 2022.
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Multi-omics research in sarcopenia: Current progress and future prospects.肌肉减少症的多组学研究:当前进展与未来展望。
Ageing Res Rev. 2022 Apr;76:101576. doi: 10.1016/j.arr.2022.101576. Epub 2022 Jan 29.
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Mendelian etiologies identified with whole exome sequencing in cerebral palsy.全外显子测序在脑瘫中的孟德尔病因鉴定。
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Genome-wide analysis of circular RNAs and validation of hsa_circ_0086354 as a promising biomarker for early diagnosis of cerebral palsy.环状 RNA 的全基因组分析及 hsa_circ_0086354 作为脑瘫早期诊断有潜力的生物标志物的验证。
BMC Med Genomics. 2022 Jan 21;15(1):13. doi: 10.1186/s12920-022-01163-6.
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Genetic Spectrum Identified by Exome Sequencing in a Chinese Pediatric Cerebral Palsy Cohort.中国儿童脑性瘫痪队列中通过外显子组测序鉴定的基因谱
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Genetic Testing in Various Neurodevelopmental Disorders Which Manifest as Cerebral Palsy: A Case Study From Iran.表现为脑瘫的各种神经发育障碍中的基因检测:来自伊朗的病例研究
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Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing.通过全基因组测序在未经选择的脑瘫患者中可临床报告的基因变异的检出率。
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Genetic Testing Contributes to Diagnosis in Cerebral Palsy: Aicardi-Goutières Syndrome as an Example.基因检测有助于脑瘫的诊断:以艾卡迪-古铁雷斯综合征为例。
Front Neurol. 2021 Apr 22;12:617813. doi: 10.3389/fneur.2021.617813. eCollection 2021.