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

Biallelic <italic>TMEM72</italic> Variants in Patients with a Nephronophthisis-Like Phenotype

双等位基因<italic>TMEM72</italic>变异体在具有肾痨样表型的患者中

Claus, Laura R; Snoek, Rozemarijn; Faber, Siebren; Roskothen-Shevchuk, Aurelius J C; Sendino Garví, Elena; Peters, Edith D J; Savelberg, Sanne M C; Duran, Karen; van der Zwaag, Bert; Nguyen, Tri Q; Broekhuizen, Roel; Brummelhuis, Walter J; Rookmaaker, Maarten; van der Veen, Suzanne W; Elferink, Martin G; Karras, Alexandre; Raymond, Laure; Mousseaux, Cyril; Sadeghi-Alavijeh, Omid; Sayer, John A; Olinger, Eric; Neatu, Ruxandra; Klämbt, Verena; Stokman, Marijn F; Knoers, Nine V A M; Tessadori, Federico; Gale, Daniel P; Boldt, Karsten; Ueffing, Marius; Slaats, Gisela G; Roepman, Ronald; Hildebrandt, Friedhelm; Mesnard, Laurent; van Haaften, Gijs; van Eerde, Albertien M

A network of interacting ciliary tip proteins with opposing activities imparts slow and processive microtubule growth

纤毛尖端蛋白相互作用形成的网络,其功能相互拮抗,赋予微管缓慢而持续的生长能力。

Saunders, Harriet A J; van den Berg, Cyntha M; Hoogebeen, Robin A; Schweizer, Donna; Stecker, Kelly E; Roepman, Ronald; Howes, Stuart C; Akhmanova, Anna

Small molecule treatment alleviates photoreceptor cilia defects in LCA5-deficient human retinal organoids

小分子治疗可缓解LCA5缺陷型人类视网膜类器官的光感受器纤毛缺陷

Athanasiou, Dimitra; Afanasyeva, Tess A V; Chai, Niuzheng; Ziaka, Kalliopi; Jovanovic, Katarina; Guarascio, Rosellina; Boldt, Karsten; Corral-Serrano, Julio C; Kanuga, Naheed; Roepman, Ronald; Collin, Rob W J; Cheetham, Michael E

Correction: Small molecule treatment alleviates photoreceptor cilia defects in LCA5-deficient human retinal organoids

更正:小分子治疗可缓解LCA5缺陷型人类视网膜类器官的光感受器纤毛缺陷

Athanasiou, Dimitra; Afanasyeva, Tess A V; Chai, Niuzheng; Ziaka, Kalliopi; Jovanovic, Katarina; Guarascio, Rosellina; Boldt, Karsten; Corral-Serrano, Julio C; Kanuga, Naheed; Roepman, Ronald; Collin, Rob W J; Cheetham, Michael E

Advances in ciliary proteomics - towards cracking the hidden proteome code of cilia

纤毛蛋白质组学进展——破解纤毛隐藏的蛋白质组密码

Schermer, Bernhard; Roepman, Ronald; Mick, David U

A defective structural zipper in photoreceptors causes inherited blindness

感光细胞中结构拉链缺陷会导致遗传性失明

Faber, Siebren; Roepman, Ronald

Moonlighting of mitotic regulators in cilium disassembly

纤毛解体中细胞分裂调节因子的兼职作用

Doornbos, Cenna; Roepman, Ronald

Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA

利用ALPACA进行基于细胞的纤毛病患者检测,以提高诊断准确性

Doornbos, Cenna; van Beek, Ronald; Bongers, Ernie M H F; Lugtenberg, Dorien; Klaren, Peter H M; Vissers, Lisenka E L M; Roepman, Ronald; Oud, Machteld M

Artificial intelligence: A powerful paradigm for scientific research

人工智能:科学研究的强大范式

Xu, Yongjun; Liu, Xin; Cao, Xin; Huang, Changping; Liu, Enke; Qian, Sen; Liu, Xingchen; Wu, Yanjun; Dong, Fengliang; Qiu, Cheng-Wei; Qiu, Junjun; Hua, Keqin; Su, Wentao; Wu, Jian; Xu, Huiyu; Han, Yong; Fu, Chenguang; Yin, Zhigang; Liu, Miao; Roepman, Ronald; Dietmann, Sabine; Virta, Marko; Kengara, Fredrick; Zhang, Ze; Zhang, Lifu; Zhao, Taolan; Dai, Ji; Yang, Jialiang; Lan, Liang; Luo, Ming; Liu, Zhaofeng; An, Tao; Zhang, Bin; He, Xiao; Cong, Shan; Liu, Xiaohong; Zhang, Wei; Lewis, James P; Tiedje, James M; Wang, Qi; An, Zhulin; Wang, Fei; Zhang, Libo; Huang, Tao; Lu, Chuan; Cai, Zhipeng; Wang, Fang; Zhang, Jiabao

Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome

纤毛ARMC9/TOGARAM1蛋白模块功能障碍会导致Joubert综合征。

Latour, Brooke L; Van De Weghe, Julie C; Rusterholz, Tamara Ds; Letteboer, Stef Jf; Gomez, Arianna; Shaheen, Ranad; Gesemann, Matthias; Karamzade, Arezou; Asadollahi, Mostafa; Barroso-Gil, Miguel; Chitre, Manali; Grout, Megan E; van Reeuwijk, Jeroen; van Beersum, Sylvia Ec; Miller, Caitlin V; Dempsey, Jennifer C; Morsy, Heba; Bamshad, Michael J; Nickerson, Deborah A; Neuhauss, Stephan Cf; Boldt, Karsten; Ueffing, Marius; Keramatipour, Mohammad; Sayer, John A; Alkuraya, Fowzan S; Bachmann-Gagescu, Ruxandra; Roepman, Ronald; Doherty, Dan