详细内容（前10条）

1. GSE335263 单核 RNA 测序发现终末期致心律失常性右室心肌病中 PLXNA4 上调 [RNA-seq]

• ✍️ 作者：未知作者
• 🏷️ 关键词：sequencing、RNA-seq
• 📝 描述：Contributors : Bridget Simonson ; Mark Chaffin ; Patrick T EllinorSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensArrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare genetic form of heart disease often caused by mutations in desmosomal proteins. We carried out single-nucleus RNA sequencing (snRNA-seq) on 11 non-failing and 8 ARVC patient right ventricular samples and transcriptionally profiled 139,347 nuclei. We identified over 4,400 differentially expressed protein coding genes between non-failing and ARVC samples across cell types. When compared to dilated, hypertrophic and ischemic cardiomyopathy, we found that end stage ARVC is transcriptionally similar to other forms of end stage heart failure. Despite broad transcriptional similarities, we identified seven cardiomyocyte genes and six fibroblast genes that were uniquely dysregulated in ARVC and validated PLXNA4 as a gene with uniquely increased expression in cardiomyocytes in ARVC compared to other cardiomyopathies. Overexpression of PLXNA4 in hiPSC-derived ventricular cardiomyocytes induced immune response gene expression, suppressed calcium signaling, and altered cardiomyocyte electrophysiology, suggesting PLXNA4 may contribute to these pathways in ARVC.
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2. GSE328891 对热带爪蟾变态发育过程中小肠上皮细胞进行单细胞 RNA 测序，揭示了上皮-间质转化在成体上皮干细胞发育中的作用。

• ✍️ 作者：未知作者
• 🏷️ 关键词：sequencing、regex:intestin(e|al)
• 📝 描述：Contributors : Divine Ayichi ; Paisley Thomson ; Yun-Bo Shi ; Liezhen Fu ; Caroline Esnault ; Ryan DaleSeries Type : Expression profiling by high throughput sequencingOrganism : Xenopus tropicalisIntestinal remodeling during thyroid hormone-dependent Xenopus metamorphosis involves degeneration of the larval epithelium through apoptosis and de novo formation of adult stem cells followed by their proliferation and differentiation to establish a multi-fold adult epithelium. This offers an opportunity to study how adult organ-specific stem cells are formed during vertebrate development. Here, we have carried out single cell RNA-sequencing (scRNA-seq) analyses of the intestinal epithelium at stage 56, a larval stage, and stage 61, a climax stage when larval epithelial cells undergo apoptosis and adult epithelial stem cells are formed and proliferating, and stage 66, the completion of metamorphosis. By distributing cells on a UMAP, where the locations of individual cells on a 2-dimensional plot are dictated by their transcriptomes relative to other cells, we found that most known cell types in the intestinal epithelium, such as goblet and enteroendocrine cells, are colocalized at the two stages, suggesting little changes in the transcriptomes of these cells between the two stages. On the other hand, the location of the major cell type, the enterocytes, shifts significantly at stage 61. Importantly, stem cells and a novel cell type, epithelial-mesenchymal transition (EMT) cells, are found almost exclusively at stage 61. Bioinformatics analyses of the differentially expressed genes (DEGs) between stages 56 and 61 for the enterocytes, EMT cells, and stem cells reveal that many more DEGs are for EMT cells and stem cells compared to the enterocytes. Interestingly, nearly 40% of the DEGs are common between EMT cells and stem cells. Pathway analyses of these common DEGs suggest that the EMT cells are the precursors of the adult stem cells and are derived from larval epithelial cells, most likely the enterocytes.
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3. GSE342773 人类内脏脂肪组织在代谢疾病状态下的单核和整体转录组图谱揭示了 THBS1 作为一种纤维炎症驱动因子

• ✍️ 作者：未知作者
• 🏷️ 关键词：metabolic
• 📝 描述：Contributors : Jisu Jung ; Eun Seo Park ; Na Keum Lee ; Jung-Jae Lee ; Uijin Juang ; Qingzhi Huang ; Young Suk Park ; Hyung Joon Kim ; Jung-Kwon Kim ; Tae Jung Oh ; Jae Myoung Suh ; Jae Bum Kim ; Joon Ho Moon ; Jong Kyoung Kim ; Sung Hee ChoiSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensThe cellular complexity of adipose tissue plays a critical role in the pathogenesis of metabolic disease; however, mechanisms underlying adipose dysfunction remain poorly understood. Here, we constructed a single-nucleus and bulk transcriptomic atlas of human visceral adipose tissues from an ethnically homogeneous cohort with defined metabolic states: lean with normal glucose tolerance, obesity, and obesity with type 2 diabetes. Single-nucleus RNA sequencing (snRNA-seq) revealed a fibro-inflammatory subpopulation of adipose stem cells and adipocytes characterized by high THBS1 expression, which were enriched in individuals with obesity and obesity with type 2 diabetes compared to lean controls. Through complementary in vitro, ex vivo, and in vivo experiments, we demonstrated that THBS1 promoted adipose fibrosis and inflammation via macrophage-mediated TGFbeta activation, impairing adipogenesis and adipocyte function. Inhibition of THBS1 attenuated fibro-inflammatory features in metabolically dysfunctional adipose tissues. Collectively, this dataset provides a cellular atlas of human visceral adipose tissue across metabolic disease states and identifies THBS1 as a key pathogenic driver and potential therapeutic target.
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4. GSE336031 条件性过表达肠上皮细胞中的PPARα可降低GIP肠内分泌细胞和循环激素水平

• ✍️ 作者：未知作者
• 🏷️ 关键词：regex:intestin(e|al)
• 📝 描述：Contributors : Kelli L VanDussen ; Jacob J SochaSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusPPARα transcriptional programs have tissue-dependent features, yet there is a lack of genetic research tools to study tissue-specific signaling activation without the addition of a systemic agonist. Our aim was to investigate intestinal epithelial-specific roles of PPARα signaling using a novel transgenic mouse that enables spatial and temporal control of Ppara overexpression. CAG-Ppara,-EGFP mice were bred to Villin-CreERT2 to establish the IEC-Ppara mouse, which was compared to littermate controls 2 weeks after tamoxifen exposure. Transcriptional analysis of intestinal tissue from IEC-Ppara mice showed upregulation of PPARα target genes and functional enrichment for fatty acid catabolic processes. Unexpectedly, the enteroendocrine hormone Gip was among the most downregulated genes. GIP-positive enteroendocrine cell number, GIP circulating hormone, and the incretin response were also reduced in IEC-Ppara mice. These findings reveal PPARα as a regulator of GIP and support a new framework in which PPARα signaling influences glucose homeostasis via a gut hormone axis
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5. GSE335287 甲基化的eEF1A选择性解码mRNA以塑造癌症蛋白质组

• ✍️ 作者：未知作者
• 🏷️ 关键词：cancer
• 📝 描述：Contributors : Shuo Liu ; F A Cruz-Navarrete ; Simone Hausmann ; Krzysztof J Szkop ; Ryan A Brady ; Xiaoyin Lu ; Rui Dong ; Julia Vu ; Natasha M Flores ; Sabeen Ikram ; Emily Zahn ; Julia Thompson ; Ben A Garcia ; Ola Larsson ; Ivan Topisirovic ; Scott C Blanchard ; Or Gozani ; Pawel K MazurSeries Type : Expression profiling by high throughput sequencing ; OtherOrganism : Homo sapiensDifferences in mRNA decoding efficiency influence protein synthesis. However, whether the translation elongation machinery harbors an intrinsic mechanism that selectively decodes codons—and how this shapes proteomes in homeostasis and disease—remains unknown. Here we find that METTL13-catalyzed dimethylation of the elongation factor eEF1A at lysine 55 (eEF1AK55me2) enhances decoding of select codons, thereby preferentially increasing synthesis of pro-oncogenic proteins, including KRAS, to promote tumorigenesis and targeted therapy resistance. Proteomic profiling and single-molecule imaging reveal that eEF1AK55me2 increases decoding efficiency, particularly for underrepresented codons with weak wobble-position basepairing. In cancer cells, METTL13 knockdown reduced synthesis of oncogenic proteins encoded by genes enriched in eEF1AK55me2-dependent codons—including KRAS—an effect reversed by synonymous recoding with eEF1AK55me2-independent codons. KRAS recoding also attenuated anti-neoplastic effects of METTL13 depletion. Loss of METTL13 inhibited growth of KRASG12Cinhibitor(sotorasib)-resistant syngeneic and patient-derived lung adenocarcinoma (LUAD) xenografts. Further, METTL13 ablation in relapsed autochthonous KRASG12C-driven LUAD tumors mitigated sotorasib resistance, significantly extending survival in vivo. Finally, in clinical trial patients treated with the KRASG12C-inhibitor adagrasib, inferred METTL13 activity was associated with inferior clinical response. These findings identify an eEF1AK55me2-mediated mRNA decoding mechanism that promotes selective oncogenic protein synthesis and suggest that METTL13 targeting may counteract tumor resistance to KRAS inhibitors.
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6. GSE326014 单核 RNA 测序发现终末期致心律失常性右室心肌病中 PLXNA4 表达上调

• ✍️ 作者：未知作者
• 🏷️ 关键词：sequencing
• 📝 描述：Contributors : Bridget Simonson ; Mark Chaffin ; Patrick T EllinorSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensArrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare genetic form of heart disease often caused by mutations in desmosomal proteins. We carried out single-nucleus RNA sequencing (snRNA-seq) on 11 non-failing and 8 ARVC patient right ventricular samples and transcriptionally profiled 139,347 nuclei. We identified over 4,400 differentially expressed protein coding genes between non-failing and ARVC samples across cell types. When compared to dilated, hypertrophic and ischemic cardiomyopathy, we found that end stage ARVC is transcriptionally similar to other forms of end stage heart failure. Despite broad transcriptional similarities, we identified seven cardiomyocyte genes and six fibroblast genes that were uniquely dysregulated in ARVC and validated PLXNA4 as a gene with uniquely increased expression in cardiomyocytes in ARVC compared to other cardiomyopathies. Overexpression of PLXNA4 in hiPSC-derived ventricular cardiomyocytes induced immune response gene expression, suppressed calcium signaling, and altered cardiomyocyte electrophysiology, suggesting PLXNA4 may contribute to these pathways in ARVC.
• 🔗 查看原文

7. GSE343705 m6A 缺失减弱巨噬细胞 I 型干扰素反应

• ✍️ 作者：未知作者
• 🏷️ 关键词：macrophage
• 📝 描述：Series Type : Expression profiling by high throughput sequencing ; OtherOrganism : Homo sapiensThis SuperSeries is composed of the SubSeries listed below.
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8. GSE158516 精神分裂症患者死后脑组织的单核RNA测序

• ✍️ 作者：未知作者
• 🏷️ 关键词：RNAseq
• 📝 描述：Contributors : Benjamin C Reiner ; Wade H BerrettiniSeries Type : Expression profiling by high throughput sequencingOrganism : Homo sapiensWe performed single-nuclei RNAseq of human postmortem dorsolateral prefrontal cortex brain samples from 16 schizophrenia and 16 control individuals to identify cellular subtype specific changes in the neural transcriptome.
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9. GSE343905 高海拔低氧通过PHD2调控铁死亡抑制三阴性乳腺癌的生长

• ✍️ 作者：未知作者
• 🏷️ 关键词：cancer
• 📝 描述：Contributors : Shujun Guo ; Min Gao ; Ying Zhao ; Xiaohan Liu ; Zehui Xie ; Wanjia Qiao ; Dan Luo ; Lingfang Zhang ; Jianming TangSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusHigh-altitude hypoxia may alter triple-negative breast cancer progression, but the underlying mechanisms remain incompletely understood. This study profiled transcriptomic changes in subcutaneous 4T1 tumors from female BALB/c mice maintained under ambient-altitude conditions in Lanzhou (approximately 1,500 m) or in a hypobaric chamber simulating an altitude of 3,500 m and treated with vehicle or the prolyl hydroxylase inhibitor IOX2. RNA sequencing data from 12 tumors were analyzed to identify changes associated with altitude exposure and PHD inhibition. Differential expression and Kyoto Encyclopedia of Genes and Genomes analyses indicated ferroptosis-related transcriptomic alterations, supporting further evaluation of the SLC7A11-GSH-GPX4/ACSL4 axis.
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10. GSE334669 Rg1 通过 TLR4–MyD88–NF-κB 通路抑制星形胶质细胞 NLRP2 炎症小体，从而改善脊髓损伤后的运动功能恢复。

• ✍️ 作者：未知作者
• 🏷️ 关键词：pathway
• 📝 描述：Contributors : Baihan Sun ; Kelv Shen ; Yin Zhu ; Wenjun ZouSeries Type : Expression profiling by high throughput sequencingOrganism : Mus musculusSpinal cord injury (SCI)-induced neuroinflammation and astrocyte pyroptosis severely impede motor functional recovery. Here, we report that ginsenoside Rg1 attenuates astrocyte pyroptosis by regulating the TLR4‑MyD88‑NF‑κB signaling axis, thereby promoting functional recovery in SCI rats. RNA‑seq combined with RT‑qPCR analysis revealed that Rg1 treatment significantly downregulated the transcriptional levels of Tlr4, Myd88, and Map3k7 in primary astrocytes, and reduced the expression and nuclear translocation of downstream NF‑κB pathway phosphoproteins (p‑IKKβ, p‑p65). Collectively, our data provide a molecular framework for the neuroprotective effects of Rg1 after SCI: Rg1 inhibits TLR4‑MyD88‑IKKβ/NF‑κB signaling, downregulates NLRP2 inflammasome‑mediated astrocyte pyroptosis, thereby alleviating neuroinflammation and promoting motor functional recovery. Importantly, the RNA‑seq analysis offers global molecular evidence identifying the key transcriptional pathway (TLR4/MyD88/NF‑κB) targeted by Rg1.
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1. 基于RNA-Seq数据训练的新型AI模型能够准确检测关键基因突变，并预测32种癌症类型的生物标志物。

• ✍️ 作者：未知作者
• 🏷️ 关键词：cancer、RNA-seq
• 📝 描述：RNA sequencing and pathology imaging data helped train an AI model to predict TP53 mutations, gene expression, cancer type, and clinical outcomes across solid tumors…
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2. 斯坦福大学科学家发现，免疫细胞会涌入衰老的大脑。

• ✍️ 作者：未知作者
• 🏷️ 关键词：immune、aging
• 📝 描述：Scientists have discovered that the aging human brain may be far less isolated from the rest of the body than once believed. Stanford researchers found that large numbers of immune cells from the blood begin entering the brain as early as middle age, where they can transform into microglia, the brain’s specialized immune cells. The finding overturns a long-standing assumption that these cells remain largely separate from the body’s immune system throughout life.
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3. 结合RNA测序和病理图像，可以识别与生存相关的胶质母细胞瘤亚群

• ✍️ 作者：未知作者
• 🏷️ 关键词：sequencing
• 📝 描述：RNA sequencing combined with digital pathology and deep learning identifies distinct glioblastoma subgroups associated with substantial differences in patient survival…
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4. 服用雌激素的女性大脑中阿尔茨海默病的迹象较少。

• ✍️ 作者：未知作者
• 🏷️ 关键词：Alzheimer
• 📝 描述：Women who used estrogen-only hormone therapy later in life were less likely to develop dementia and showed fewer signs of Alzheimer’s disease in their brains, according to a large study of more than 21,000 participants. Hormone therapy use was linked to 39% lower odds of a dementia diagnosis and 35% lower odds of Alzheimer’s-related brain changes at autopsy, including amyloid plaques and tau tangles. Biomarker tests also suggested less amyloid buildup among hormone therapy users.
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• GSE304303 盐酸高氯环利嗪治疗对Huh7肝癌细胞基因表达的影响
• GSE241919 分析参与康复运动以改善急性心肌梗死诱导的心脏重塑的非编码RNA
• GSE183508 超重力诱导小麦根系生长增强的转录组谱
• GSE300276 YTHDF1介导的m6A RNA调控通过KLF11-HIF1α控制心肌细胞重塑（ChIP-seq）