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

A rare 5'UTR variant in SEC24D reveals translational dysfunction in osteogenesis imperfecta: a roadmap for RNA therapeutic rescue.

SEC24D 中罕见的 5'UTR 变异揭示了成骨不全症中的翻译功能障碍：RNA 治疗拯救的路线图。

期刊:Scientific Reports
影响因子:3.9
doi:10.1038/s41598-025-29937-9
Essawi Osama, Jarayseh Tamara, Tapaneeyaphan Piyanoot, Bouckaert Manon, Naessens Sarah, Malfait Fransiska, Coppieters Frauke, Coucke Paul J
发表日期：2026
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Crispant analysis in zebrafish as a tool for rapid functional screening of disease-causing genes for bone fragility.

利用斑马鱼的Crispant分析作为快速筛选致病基因以检测骨骼脆弱性的工具

期刊:Elife
影响因子:6.4
doi:10.7554/eLife.100060
Debaenst Sophie, Jarayseh Tamara, De Saffel Hanna, Bek Jan Willem, Boone Matthieu, Josipovic Ivan, Kibleur Pierre, Kwon Ronald Y, Coucke Paul J, Willaert Andy
骨科研究
发表日期：2025
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Structure-Activity Analysis Reveals Perturbed Cilia-Jun N-Terminal Kinase Signaling in MAPKBP1-Associated Kidney Disease

结构-活性分析揭示MAPKBP1相关肾病中纤毛-Jun N端激酶信号传导紊乱

期刊:Kidney International Reports
影响因子:5.7
doi:10.1016/j.ekir.2025.05.049
Findeisen, Christin; Papazian, Maria; Pöschla, Linda; Ertel, Anastasia; Jin, Wenjun; Panitz, Nydia; Hantmann, Elena; Coucke, Paul; Abdulwahab, Firdous; AlAbdi, Lama; Alkuraya, Fawzan S; Salem, May; Alzaidan, Hamad; Eckardt, Kai-Uwe; Christensen, Søren T; Benmerah, Alexandre; Saunier, Sophie; Halbritter, Jan; Schönauer, Ria
信号转导
MAPK/ERK
发表日期：2025
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RNA-sequencing unveils FLT4 splice site variants in variable congenital heart disease

RNA测序揭示了不同先天性心脏病中FLT4剪接位点变异

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-025-01788-y
Verlee, Maxim; D'haenens, Erika; De Cock, Laurenz; Muiño Mosquera, Laura; De Groote, Katya; Vandekerckhove, Kristof; Panzer, Joseph; Roets, Ellen; Menten, Björn; Symoens, Sofie; Coucke, Paul; Van Damme, Tim; Vergult, Sarah; Callewaert, Bert
心脏病
心血管
发表日期：2025
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Correction: RNA-sequencing unveils FLT4 splice site variants in variable congenital heart disease

更正：RNA测序揭示了多种先天性心脏病中FLT4剪接位点变异

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-025-01831-y
Verlee, Maxim; D'haenens, Erika; De Cock, Laurenz; Muiño Mosquera, Laura; De Groote, Katya; Vandekerckhove, Kristof; Panzer, Joseph; Roets, Ellen; Menten, Björn; Symoens, Sofie; Coucke, Paul; Van Damme, Tim; Vergult, Sarah; Callewaert, Bert
心脏病
心血管
发表日期：2025
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How sample handling distorts telomere studies

样本处理如何影响端粒研究

期刊:Scientific Reports
影响因子:3.9
doi:10.1038/s41598-025-08303-9
Tournoy, Tijs K; Martens, Dries S; De Backer, Julie; Coucke, Paul
发表日期：2025
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Evaluating variants of uncertain significance in adult zebrafish via prime editing: a proof of concept with a COL1A2 variant

利用先导编辑技术评估成年斑马鱼中意义未明的变异：以 COL1A2 变异为例的概念验证

期刊:BMC Medical Genomics
影响因子:2
doi:10.1186/s12920-025-02281-7
Vanhooydonck, Michiel; Debaenst, Sophie; Vanbelleghem, Eva; De Saffel, Hanna; Syx, Delfien; Sips, Patrick; Coucke, Paul J; Willaert, Andy; Callewaert, Bert
COL1A2
COL
发表日期：2025
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Gonadal Mosaicism as a Rare Inheritance Pattern in Recessive Genodermatoses: Report of Two Cases with Pseudoxanthoma Elasticum and Literature Review

性腺嵌合体作为隐性遗传性皮肤病的一种罕见遗传模式：两例假性黄色瘤病例报告及文献综述

期刊:Current Issues in Molecular Biology
影响因子:3
doi:10.3390/cimb46090597
Dangreau, Lisa; Hosen, Mohammad J; De Zaeytijd, Julie; Leroy, Bart P; Coucke, Paul J; Vanakker, Olivier M
免疫/内分泌
发表日期：2024
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Zebrafish Tric-b is required for skeletal development and bone cells differentiation

斑马鱼 Tric-b 是骨骼发育和骨细胞分化所必需的

期刊:Frontiers in Endocrinology
影响因子:4.6
doi:10.3389/fendo.2023.1002914
Tonelli, Francesca; Leoni, Laura; Daponte, Valentina; Gioia, Roberta; Cotti, Silvia; Fiedler, Imke A K; Larianova, Daria; Willaert, Andy; Coucke, Paul J; Villani, Simona; Busse, Björn; Besio, Roberta; Rossi, Antonio; Witten, P Eckhard; Forlino, Antonella
细胞生物学
发育与干细胞
发表日期：2023
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Inorganic Pyrophosphate Plasma Levels Are Decreased in Pseudoxanthoma Elasticum Patients and Heterozygous Carriers but Do Not Correlate with the Genotype or Phenotype

假性黄色瘤患者和杂合子携带者的血浆无机焦磷酸盐水平降低，但与基因型或表型无关。

期刊:Journal of Clinical Medicine
影响因子:2.9
doi:10.3390/jcm12051893
Van Gils, Matthias; Depauw, Justin; Coucke, Paul J; Aerts, Shari; Verschuere, Shana; Nollet, Lukas; Vanakker, Olivier M
发表日期：2023
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