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

Deciphering the impact of PROM1 alternative splicing on human photoreceptor development and maturation

揭示 PROM1 可变剪接对人类光感受器发育和成熟的影响

Marina Moya-Molina, Birthe Dorgau, Emily Flood, Stef J F Letteboer, Esben Lorentzen, Jonathan Coxhead, Graham Smith, Ronald Roepman, Sushma Nagaraja Grellscheid, Lyle Armstrong, Majlinda Lako

PDE6D Mediates Trafficking of Prenylated Proteins NIM1K and UBL3 to Primary Cilia

PDE6D介导异戊二烯化蛋白NIM1K和UBL3向初级纤毛的转运

Siebren Faber,Stef J F Letteboer,Katrin Junger,Rossano Butcher,Trinadh V Satish Tammana,Sylvia E C van Beersum,Marius Ueffing,Rob W J Collin,Qin Liu,Karsten Boldt,Ronald Roepman

Clinical value of a screening tool for tumor predisposition syndromes in childhood cancer patients (TuPS): a prospective, observational, multi-center study

儿童癌症患者肿瘤易感综合征(TuPS)筛查工具的临床价值:一项前瞻性、观察性、多中心研究

Postema, Floor A M; Hopman, Saskia M J; de Borgie, Corianne A J M; Aalfs, Cora M; Anninga, Jakob K; Berger, Lieke P V; Bleeker, Fonnet E; Dommering, Charlotte J; van Eijkelenburg, Natasha K A; Hammond, Peter; van den Heuvel-Eibrink, Marry M; Hol, Janna A; Kors, Wijnanda A; Letteboer, Tom G W; Loeffen, Jan L C M; Meijer, Lisethe; Olderode-Berends, Maran J W; Wagner, Anja; Hennekam, Raoul C; Merks, Johannes H M

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

PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation

PCARE 和 WASF3 调控纤毛 F-肌动蛋白的组装,而纤毛 F-肌动蛋白的组装是光感受器外节盘状结构形成启动所必需的。

Corral-Serrano, Julio C; Lamers, Ideke J C; van Reeuwijk, Jeroen; Duijkers, Lonneke; Hoogendoorn, Anita D M; Yildirim, Adem; Argyrou, Nikoleta; Ruigrok, Renate A A; Letteboer, Stef J F; Butcher, Rossano; van Essen, Max D; Sakami, Sanae; van Beersum, Sylvia E C; Palczewski, Krzysztof; Cheetham, Michael E; Liu, Qin; Boldt, Karsten; Wolfrum, Uwe; Ueffing, Marius; Garanto, Alejandro; Roepman, Ronald; Collin, Rob W J

A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling

CEP104-CSPP1复合物是Hedgehog信号传导中初级纤毛形成的必要条件

Kari-Anne M Frikstad, Elisa Molinari, Marianne Thoresen, Simon A Ramsbottom, Frances Hughes, Stef J F Letteboer, Sania Gilani, Kay O Schink, Trond Stokke, Stefan Geimer, Lotte B Pedersen, Rachel H Giles, Anna Akhmanova, Ronald Roepman, John A Sayer, Sebastian Patzke

Cancer Risks for PMS2-Associated Lynch Syndrome

PMS2相关林奇综合征的癌症风险

Ten Broeke, Sanne W; van der Klift, Heleen M; Tops, Carli M J; Aretz, Stefan; Bernstein, Inge; Buchanan, Daniel D; de la Chapelle, Albert; Capella, Gabriel; Clendenning, Mark; Engel, Christoph; Gallinger, Steven; Gomez Garcia, Encarna; Figueiredo, Jane C; Haile, Robert; Hampel, Heather L; Hopper, John L; Hoogerbrugge, Nicoline; von Knebel Doeberitz, Magnus; Le Marchand, Loic; Letteboer, Tom G W; Jenkins, Mark A; Lindblom, Annika; Lindor, Noralane M; Mensenkamp, Arjen R; Møller, Pål; Newcomb, Polly A; van Os, Theo A M; Pearlman, Rachel; Pineda, Marta; Rahner, Nils; Redeker, Egbert J W; Olderode-Berends, Maran J W; Rosty, Christophe; Schackert, Hans K; Scott, Rodney; Senter, Leigha; Spruijt, Liesbeth; Steinke-Lange, Verena; Suerink, Manon; Thibodeau, Stephen; Vos, Yvonne J; Wagner, Anja; Winship, Ingrid; Hes, Frederik J; Vasen, Hans F A; Wijnen, Juul T; Nielsen, Maartje; Win, Aung Ko

SNP association study in PMS2-associated Lynch syndrome

PMS2相关林奇综合征的SNP关联研究

Ten Broeke, Sanne W; Elsayed, Fadwa A; Pagan, Lisa; Olderode-Berends, Maran J W; Garcia, Encarna Gomez; Gille, Hans J P; van Hest, Liselot P; Letteboer, Tom G W; van der Kolk, Lizet E; Mensenkamp, Arjen R; van Os, Theo A; Spruijt, Liesbeth; Redeker, Bert J W; Suerink, Manon; Vos, Yvonne J; Wagner, Anja; Wijnen, Juul T; Steyerberg, E W; Tops, Carli M J; van Wezel, Tom; Nielsen, Maartje

Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility

MNS1 纯合功能丧失突变可导致侧性缺陷,并可能导致男性不育

Asaf Ta-Shma, Rim Hjeij, Zeev Perles, Gerard W Dougherty, Ibrahim Abu Zahira, Stef J F Letteboer, Dinu Antony, Alaa Darwish, Dorus A Mans, Sabrina Spittler, Christine Edelbusch, Sandra Cindrić, Tabea Nöthe-Menchen, Heike Olbrich, Friederike Stuhlmann, Isabella Aprea, Petra Pennekamp, Niki T Loges, O

Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer-Saldino syndrome diagnosis

细胞纤毛表型表明 IFT140 的新变异具有致病性,并确认了 Mainzer-Saldino 综合征的诊断

Machteld M Oud, Brooke L Latour #, Zeineb Bakey #, Stef J Letteboer, Dorien Lugtenberg, Ka Man Wu, Elisabeth A M Cornelissen, Helger G Yntema, Miriam Schmidts, Ronald Roepman #, Ernie M H F Bongers #