Xu Jiajun, Gong Weiwei, Mo Chune, Hou Xianliang, Ou Minglin
Laboratory Center, Guangxi Key Laboratory of Metabolic Reprogramming and In- telligent Medical Engineering for Chronic Diseases, The Second Affiliated Hospital of Guilin Medical University, Guilin, 541199, China.
Laboratory Center, Guangxi Health Commission Key Laboratory of Glucose and Lipid Metabolism Disorders, The Second Affiliated Hospital of Guilin Medical University, Guilin, 541199, China.
Stem Cell Rev Rep. 2025 Jan;21(1):126-146. doi: 10.1007/s12015-024-10799-z. Epub 2024 Oct 8.
The rise of induced pluripotent stem cells (iPSCs) technology has ushered in a landmark shift in the study of hereditary diseases. However, there is a scarcity of reports that offer a comprehensive and objective overview of the current state of research at the intersection of iPSCs and hereditary diseases. Therefore, this study endeavors to categorize and synthesize the publications in this field over the past decade through bibliometric methods and visual knowledge mapping, aiming to visually analyze their research focus and clinical trends. The English language literature on iPSCs and hereditary diseases, published from 2014 to 2023 in the Web of Science Core Collection (WoSCC), was examined. The CiteSpace (version 6.3.R1) software was utilized to visualize and analyze country/region, institution, scholar, co-cited authors, and co-cited journals. Additionally, the co-occurrence, clustering, and bursting of co-cited references were displayed. Analysis of 347 articles that met the inclusion criteria revealed a steady increase in the number of published articles and citation frequency in the field over the past decade. With regard to the countries/regions, institutions, scholars, and journals where the articles were published, the highest numbers were found in the USA, the University of California System, Suren M. Zakian, and Stem Cell Research, respectively. The current research is focused on the construction of disease models, both before and after correction, as well as drug target testing for single-gene hereditary diseases. Chromosome transplantation genomic therapy for hereditary diseases with abnormal chromosome structures may emerge as a future research hotspot in this field.
诱导多能干细胞（iPSCs）技术的兴起为遗传性疾病的研究带来了具有里程碑意义的转变。然而，鲜有报告能全面、客观地概述iPSCs与遗传性疾病交叉领域的当前研究状况。因此，本研究力图通过文献计量学方法和可视化知识图谱，对过去十年该领域的出版物进行分类和综合，旨在直观分析其研究重点和临床趋势。我们检索了2014年至2023年发表在科学网核心合集（WoSCC）上的关于iPSCs与遗传性疾病的英文文献。利用CiteSpace（版本6.3.R1）软件对国家/地区、机构、学者、共被引作者和共被引期刊进行可视化分析。此外，还展示了共被引参考文献的共现、聚类和突现情况。对347篇符合纳入标准的文章进行分析后发现，在过去十年中，该领域发表的文章数量和被引频次稳步增加。在文章发表的国家/地区、机构、学者和期刊方面，数量最多的分别是美国、加利福尼亚大学系统、苏伦·M·扎基安和《干细胞研究》。当前的研究重点是疾病模型的构建，包括矫正前后的模型，以及单基因遗传性疾病的药物靶点测试。针对染色体结构异常的遗传性疾病的染色体移植基因组疗法可能会成为该领域未来的研究热点。
