ZFP42

更新于：2025-05-07

基本信息

别名

hREX-1、Reduced expression protein 1、REX-1

+ [7]

简介

Involved in the reprogramming of X-chromosome inactivation during the acquisition of pluripotency. Required for efficient elongation of TSIX, a non-coding RNA antisense to XIST. Binds DXPas34 enhancer within the TSIX promoter. Involved in ES cell self-renewal (By similarity).

关联

100 项与 ZFP42 相关的临床结果

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100 项与 ZFP42 相关的转化医学

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0 项与 ZFP42 相关的专利（医药）

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585

项与 ZFP42 相关的文献（医药）

2025-02-01·Heliyon

Unveiling distinctions between mesenchymal stromal cells and stem cells by single-cell transcriptomic analysis

Article

作者: Ma, Fei ; Jin, Xin ; Yan, Kaijing ; Kang, Y James ; Wang, Huizhen ; Song, Xiaoxi ; Zuo, Xiao ; Liu, Pengchong ; Han, Pengfei ; Zhang, Jinlai

Mesenchymal stromal cells (MSCs) and stem cells are distinct types of cells, but they are practically undistinguishable by currently commonly-used identification markers. A single-cell transcriptomic analysis was used to solve this problem. There are eight critical genes involved in self-renewal and differentiation, SOX2, NANOG, POU5F1, SFRP2, DPPA4, SALL4, ZFP42 and MYCN expressed in ESCs, iPSCs and adult stem cells (ASCs), but not in MSCs. There are five functional genes of MSCs, TMEM119, FBLN5, KCNK2, CLDN11 and DKK1, which are not expressed in stem cells. Trajectory analysis displayed clear developmental cliffs from ESCs/iPSCs to ASCs and to MSCs. Adipose-derived MSCs, relative to other types of MSCs, exhibit a more consistent and broader spectrum of gene expression for regulatory and excrete function. This study identifies distinction markers between MSCs and stem cells, providing an alternative approach for quality control of MSCs in their propagation and further mechanistic insights into their action.

2025-01-01·Human Genetics and Genomics Advances

RLIM-specific activity reporters define variant pathogenicity in Tonne-Kalscheuer syndrome

Article

作者: Ward, D Isum ; Berg, Aaron D ; Gill, Polly ; Koch, Intisar ; Bandi, Venkateshwarlu ; Rennie, Martin ; Bustos, Francisco ; Cui, Hong ; Pacheco, Oscar D

Tonne-Kalscheuer syndrome (TOKAS; MIM: 300978) is an X-linked recessive disorder with devastating consequences for patients, such as intellectual disability, developmental delay, and multiple congenital abnormalities. TOKAS is associated with hemizygous variants in the RLIM gene, which encodes a RING-type E3 ubiquitin ligase. The current sustained increase in reported RLIM variants of uncertain significance creates an urgent need to develop assays that can screen these variants and experimentally determine their pathogenicity and disease association. Here, we engineered flow cytometry-based RLIM-specific reporters to measure RLIM activity in TOKAS. This paper describes the design and use of RLIM-specific reporters to determine the pathogenicity of a TOKAS RLIM gene variant. Our data demonstrate that RLIM-specific flow cytometry reporters based on either the full length or a degron region of the substrate REX1 measure RLIM activity in cells. Further, we describe the TOKAS variant RLIM p.Asn581Lys and, using reporter assays, determine that it disrupts RLIM catalytic activity. These data reveal how the p.Asn581Lys variant impairs RLIM function and suggests pathogenic mechanisms. The use of RLIM-specific reporters will greatly accelerate the resolution of variants of uncertain significance and disease association in TOKAS.

2024-12-01·Archives of Toxicology

Predictive biomarkers for embryotoxicity: a machine learning approach to mitigating multicollinearity in RNA-Seq

Article

作者: Lee, Seung-Jin ; Jeong, Ji-Seong ; Jung, Soontag ; Ham, Onju ; Kim, Sangyun ; Park, Seung-Chun ; Yu, Wook-Joon ; Chan, Jireh Yi-Le ; Quah, Yixian ; Kim, Woojin

Multicollinearity, characterized by significant co-expression patterns among genes, often occurs in high-throughput expression data, potentially impacting the predictive model's reliability. This study examined multicollinearity among closely related genes, particularly in RNA-Seq data obtained from embryoid bodies (EB) exposed to 5-fluorouracil perturbation to identify genes associated with embryotoxicity. Six genes-Dppa5a, Gdf3, Zfp42, Meis1, Hoxa2, and Hoxb1-emerged as candidates based on domain knowledge and were validated using qPCR in EBs perturbed by 39 test substances. We conducted correlation studies and utilized the variance inflation factor (VIF) to examine the existence of multicollinearity among the genes. Recursive feature elimination with cross-validation (RFECV) ranked Zfp42 and Hoxb1 as the top two among the seven features considered, identifying them as potential early embryotoxicity assessment biomarkers. As a result, a t test assessing the statistical significance of this two-feature prediction model yielded a p value of 0.0044, confirming the successful reduction of redundancies and multicollinearity through RFECV. Our study presents a systematic methodology for using machine learning techniques in transcriptomics data analysis, enhancing the discovery of potential reporter gene candidates for embryotoxicity screening research, and improving the predictive model's predictive accuracy and feasibility while reducing financial and time constraints.

项与 ZFP42 相关的新闻（医药）

2025-02-27

·PRNewswire

The debate on MSCs is over; it's time to promote MSC therapy in practice

TIANJIN, China, Feb. 26, 2025 /PRNewswire/ -- The debate on MSCs, mesenchymal stromal cells versus mesenchymal stem cells, continued for more than two decades (since 2006), being the major obstacle for MSCs study and clinical application. The major issue focuses on mesenchymal stem cells could not be approved for clinical application without a thorough test for safety issue (e.g. tumor formation), but all pre-clinical studies proved the MSCs currently prepared and used are safe without the concerns relevant to stem cells, so that they are mesenchymal stromal cells, not stem cells. However, where is the approval? Continue Reading (PRNewsfoto/Tasly) A recent publication in HELIYON ends the debate. The work presented by Regenerative Medicine Research Center at West China Hospital and Tasly Stem cell Biology Laboratory, " Unveiling Distinctions Between Mesenchymal Stromal Cells and Stem Cells by Single-Cell Transcriptomic Analysis " breaks the momentum of confusion in the development of MSC therapy both fundamentally and practically. Using advanced single-cell RNA sequencing (scRNA-seq) and pseudotime trajectory analysis, the research group identified that stem cells exhibit robust self-renewal and differentiation capabilities, mesenchymal stromal cells (MSCs) lack the expression of these critical stemness genes. These genes include SOX2, NANOG, POU5F1, SFRP2, DPPA4, SALL4, ZFP42 and MYCN. On the other hand, there are five critical stromal cell functional genes, TMEM119, FBLN5, KCNK2, CLDN11 and DKK1, that are only expressed in the mesenchymal stromal cells, not in stem cells. The study identified that currently widely used MSCs from different tissues are mesenchymal stromal cells. But, these cells (MSCs) have been long misused as stem cells in many cases. Although the safety issue becomes ignored due to the nature of MSCs, the therapeutic efficacy of these cells has been a big drawback due to the confusion of their mechanism of action. The mechanism of action of stem cells is mediated by their capacity of differentiation to replace the damaged functional cells, but that of stromal cells is medicated by homing and excrete function leading to microenvironmental rejuvenation. Of course, these two different types of cells must be used differently for their differential function in the host. Therefore, this new breakthrough not only ends the debate on MSCs, but also and importantly, helps reorientating our effort towards effective application of MSCs in clinical practice. SOURCE Tasly WANT YOUR COMPANY'S NEWS FEATURED ON PRNEWSWIRE.COM? 440k+ Newsrooms & Influencers 9k+ Digital Media Outlets 270k+ Journalists Opted In GET STARTED

细胞疗法

2025-02-27

·美通社

MSCs身份尘埃落定：开启间充质基质细胞疗法新时代

天津 2025年2月27日 /美通社/ -- 围绕间充质基质细胞（mesenchymal stromal cells）与间充质干细胞（mesenchymal stem cells）的争议已持续二十余年，成为制约MSCs研究与临床应用的主要障碍。核心问题在于：未经全面安全性验证的间充质干细胞不应获得临床应用批准。然而，所有临床前研究均表明，目前使用的MSCs在安全性上不存在干细胞相关风险，因此应将其准确定义为"间充质基质细胞"而非"干细胞"。针对这一问题，华西医院再生医学研究中心与天士力干细胞生物学实验室联合发表" Unveiling Distinctions Between Mesenchymal Stromal Cells and Stem Cells by Single-Cell Transcriptomic Analysis "研究文章，提供了具有突破性的理论依据，彻底解决了这一长期困扰行业发展的难题。研究团队通过单细胞RNA测序和拟时间轨迹分析技术，首次明确了间充质基质细胞与干细胞的本质区别。研究结果表明，干细胞具有强大的自我更新和分化能力，而间充质基质细胞完全缺乏 SOX2 、 NANOG 、 POU5F1 、 SFRP2 、 DPPA4 、 SALL4 、 ZFP42 及 MYCN 等关键干细胞特性基因的表达。此外，研究首次鉴定出 TMEM119 、 FBLN5 、 KCNK2 、 CLDN11 与 DKK1 等五个基质细胞功能的重要特异性基因，从细胞功能的层面进一步揭示了两者的本质区别。这一研究为MSCs的科学定义和临床应用提供了坚实的理论依据，将推动MSCs疗法迈向实质性突破。拟时间轨迹分析显示，间充质基质细胞在细胞谱系发育上与干细胞存在显著差异这一研究成果不仅终结了MSCs身份的长期争议，更为MSCs临床应用路径的重新规划提供了坚实的科学依据。研究明确区分了两种细胞的作用机制：干细胞依靠分化替代受损细胞，而基质细胞则通过归巢和分泌重塑微环境。这一突破性发现彻底纠正了长期以来对MSCs安全性与有效性的误解，确立了间充质基质细胞的身份鉴定标准，为个性化治疗开辟了新途径。随着这一发现的推广，MSCs疗法将在临床实践中得到更广泛且有效的应用，毫无疑问地推动其在疾病治疗中迎来革命性突破。

细胞疗法临床1期