日期 影响因子
日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:
–

Acute NIPBL depletion reveals in vivo dynamics of loop extrusion and its role in transcription activation.

急性 NIPBL 耗竭揭示了体内环挤出的动态及其在转录激活中的作用。

期刊:Nature Genetics
影响因子:29
doi:10.1038/s41588-026-02516-y
Popay Tessa M, Pant Ami, Munting Femke, Tastemel Melodi, Black Morgan E, Haghani Nicholas, Dixon Jesse R
NIPBL
发表日期：2026
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Expanding the differential diagnosis of bone-forming tumors: a new entity characterized by a NIPBL::BEND2 fusion

扩大骨形成肿瘤的鉴别诊断范围：一种以NIPBL::BEND2融合为特征的新实体

期刊:Skeletal Radiology
影响因子:2.2
doi:10.1007/s00256-025-05109-8
Forster, Danielle; Al-Khudairi, Rashed; Bonar, Fiona; Cheah, Alison; Brown, Wendy; Boyle, Richard; Wren, Dorte; Flanagan, Adrienne; Amary, Fernanda; O'Donnell, Paul
肿瘤
肿瘤免疫
NIPBL
发表日期：2026
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NIPBL and STAG1 enable loop extrusion by providing differential DNA-cohesin affinity

NIPBL 和 STAG1 通过提供不同的 DNA-黏连蛋白亲和力来促进环挤出。

期刊:Proceedings of the National Academy of Sciences of the United States of America
影响因子:9.1
doi:10.1073/pnas.2514190122
van Wee, Raman; Asor, Roi; Li, Yiwen; Drechsel, David; Popova, Mariia; Litos, Gabriele; Davidson, Iain F; Peters, Jan-Michael; Kukura, Philipp
STAG1
NIPBL
发表日期：2025
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Defining molecular signatures of the solid/pseudopapillary and pseudoglandular patterns in so-called "solid-tubulocystic intrahepatic cholangiocarcinoma vs. NIPBL::NACC1 fusion hepatic carcinoma".

定义所谓“实性-管状囊性肝内胆管癌与 NIPBL::NACC1 融合肝癌”中实性/假乳头状和假腺状模式的分子特征。

期刊:Pathology Research and Practice
影响因子:3.2
doi:10.1016/j.prp.2025.155962
Bajpai Prachi, Ghandour Fatme, Jain Ekta, Memon Raima, Patel Chirag R, Karthikeyan Santhosh Kumar, Jagadesan Sankarasubramanian, Guda Babu, Afaq Farrukh, Elkholy Amr, Varambally Sooryanarayana, Manne Upender, Diffalha Sameer Al
肿瘤
NIPBL
肿瘤免疫
胆管癌
肝癌
发表日期：2025
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Case Report: A novel intronic variant of NIPBL gene detected in a child with cornelia de lange syndrome

病例报告：在一名患有科内莉亚·德·兰格综合征的儿童中检测到一种新的NIPBL基因内含子变异

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2025.1665167
Shao, Xiao Ting; Dai, Yu Xuan; Zhao, Yu Fang; Chen, Yu Hang; Ying, Ling Jing
NIPBL
发表日期：2025
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A Cornelia de Lange syndrome NIPBL 5'-UTR mutation reduces cell proliferation in an in vitro model by downregulating RAD21 and β-catenin.

Cornelia de Lange 综合征 NIPBL 5'-UTR 突变通过下调 RAD21 和 β-catenin 来降低体外模型中的细胞增殖。

期刊:Biomedical Reports
影响因子:1.9
doi:10.3892/br.2025.2050
Chen Qingqing, Chen Yonghua, Zou Chaochun, Wang Chunlin
细胞生物学
NIPBL
RAD21
发表日期：2025
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Ophthalmological findings in Brazilian Cornelia de Lange syndrome patients with NIPBL variants

巴西 Cornelia de Lange 综合征伴 NIPBL 变异患者的眼科检查结果

期刊:BMC Ophthalmology
影响因子:1.7
doi:10.1186/s12886-025-04401-4
Vilella, Thainá; Nunes, Beatriz Carvalho; Del Valle, Giulia Steuernagel; Pinheiro, Isabel Furquim; Aoi, Hiromi; Mizuguchi, Takeshi; Seyama, Rie; Uchiyama, Yuri; Matsumoto, Naomichi; Kim, Chong Ae; Sallum, Juliana Maria Ferraz; Melaragno, Maria Isabel; Cristovam, Priscila Cardoso
NIPBL
发表日期：2025
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NIPBL-mediated 3D genome folding translates enhancer priming into gene activation and safeguards lineage fidelity during embryonic transitions

NIPBL介导的3D基因组折叠将增强子启动转化为基因激活，并在胚胎转变过程中保障谱系保真度。

期刊:
影响因子:
doi:10.64898/2025.12.30.686824
Ni, Zhangli; Ma, Xiaohui; Do, Stephanie C; Cheng, Lingling; Glenn, Rachel A; Vierbuchen, Thomas; Pertsinidis, Alexandros
3D/类器官
NIPBL
发表日期：2025
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Assessment of the transcriptomic consequences and MAU2 protein levels in edited induced pluripotent stem cells with NIPBL pathogenic variants

评估携带NIPBL致病变异的编辑诱导多能干细胞的转录组后果和MAU2蛋白水平

期刊:Genes and Diseases
影响因子:
doi:10.1016/j.gendis.2024.101386
Cassinari, Kévin; Rovelet-Lecrux, Anne; Derambure, Céline; Vezain, Myriam; Coutant, Sophie; Richard, Anne-Claire; Drouot, Nathalie; Coursimault, Juliette; Vera, Gabriella; Goldenberg, Alice; Saugier-Veber, Pascale; Charbonnier, Camille; Nicolas, Gaël
细胞生物学
发育与干细胞
NIPBL
干细胞
发表日期：2025
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Identification of De Novo Chromosomal Translocations Disrupting NIPBL in a Patient With Cornelia de Lange Syndrome by Full Genome Analysis

通过全基因组分析鉴定出一名患有科内莉亚·德·兰格综合征的患者体内破坏NIPBL的新生染色体易位

期刊:Molecular Genetics & Genomic Medicine
影响因子:
doi:10.1002/mgg3.70115
Kao, Hsiao-Jung; Wang, Elin H F; Yeh, Erh-Chan; Chen, Hsiao-Huei; Hsieh, Feng-Jen; Ko, Tsang-Ming; Hwu, Wuh-Liang; Kwok, Pui-Yan; Lee, Ni-Chung
NIPBL
发表日期：2025
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