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

De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders

剪接因子基因SF3B1的新生变异与神经发育障碍相关。

Uguen, Kevin; Bergot, Tiffany; Scott-Boyer, Marie-Pier; Chapalain, Solène; Desdouets, Camille; Commet, Séverine; Zhu, Changlian; Xu, Yiran; Wang, Yangong; Roscioli, Tony; Tran-Mau-Them, Frederic; Faivre, Laurence; Maraval, Julien; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Vitobello, Antonio; Jost, Céline; Planes, Marc; Hiatt, Susan; Wheeler, Patricia; Gonzaga-Jauregui, Claudia; Wang, Heng; Xin, Baozhong; Sency, Valerie; Kruer, Michael C; Bakhtiari, Somayeh; Sulem, Patrick; Curry, Cynthia; Prescott, Trine; Strobl-Wildemann, Gertrud; Brunet, Theresa; Doco Fenzy, Martine; Courtin, Thomas; Poirsier, Céline; Bjørg Hammer, Trine; Fenger, Christina D; MacPherson, Melissa; Izumi, Kosuke; Leonard, Jacqueline; Li, Dong; Zackai, Elaine H; Glass, Ian A; Ward, Scott; Campeau, Philippe M; Borroto, Maria Carla Hermida; Le Moigno, Laurence; Van Esch, Hilde; De Waele, Liesbeth; Calame, Daniel G; Lupski, James R; Barcia, Giulia; Peduto, Cristina; Planté-Bordeneuve, Pauline; Dupuis, Lucie; Mendoza-Londono, Roberto; Stavropoulos, Dimitri J; Gillibert-Duplantier, Jennifer; Besnard, Thomas; Do Souto Ferreira, Laura; Cogné, Benjamin; Bézieau, Stéphane; Droit, Arnaud; Corcos, Laurent; Lippert, Eric; Férec, Claude; Küry, Sebastien; Bernard, Delphine G

MDS/MPN With SF3B1 Mutation and Thrombocytosis but Without Ring Sideroblasts

伴有SF3B1突变和血小板增多症但无环状铁粒幼细胞的MDS/MPN

Hazarika, Biswadip; Bain, Barbara J

Cancer-associated SF3B1 mutation suppresses DNA repair by disrupting the organization of nuclear actin network

癌症相关的SF3B1突变通过破坏核肌动蛋白网络的组织来抑制DNA修复。

Qian, Rui; Zhao, Zhipeng; Sun, Xuanxuan; Xin, Benkai; An, Peipei; Yang, Ting; Wu, Ning; Hu, Xin; Wan, Youzhong

SF3B1(K700E) rewires splicing of cell cycle regulators

SF3B1(K700E) 重塑细胞周期调节因子的剪接

Baker, Mai; Engal, Eden; Sharma, Aveksha; Petasny, Mayra; Jaffe-Herman, Shiri; Geminder, Ophir; Su, Minhua; Bentata, Mercedes; Gershon, Adi; Kay, Gillian; Salton, Maayan

Clinical Characteristics and Molecular Profiling of SF3B1-Mutated Myelodysplastic Syndrome (MDS) in a Real-World Practice

真实世界中SF3B1突变型骨髓增生异常综合征(MDS)的临床特征和分子谱分析

Wang, Ruonan Roni; Than, Hein; Tham, Christopher; How, Gee Fung; Khoo, Si Jie; Tuy, Tertius T

CDK11 inhibition induces cytoplasmic p21(WAF1) splice variant by p53 stabilisation and SF3B1 inactivation

CDK11抑制通过p53稳定和SF3B1失活诱导胞质p21(WAF1)剪接变体

Krejcir, Radovan; Arcimowicz, Lukasz; Martinkova, Lucia; Hrabal, Vaclav; Zavadil Kokas, Filip; Henek, Tomas; Kucerikova, Martina; Bonczek, Ondrej; Zatloukalova, Pavlina; Hernychova, Lenka; Coates, Philip J; Vojtesek, Borivoj; Lane, David P

A rare cytogenetically cryptic MECOM rearrangement in a patient with myelodysplastic neoplasm and SF3B1 mutation identified by RNA sequencing: a case report

一例罕见的细胞遗传学隐匿性MECOM重排在骨髓增生异常综合征患者中被发现,并通过RNA测序鉴定出SF3B1突变:病例报告

Jin, Ye; Xu, Zi-Jun; Lv, Chao-Ran; Qian, Zhen; Wen, Xiang-Mei; Xiao, Sheng; Lin, Jiang; Qian, Jun

SF3B1 mutation as a predictive biomarker for luspatercept efficacy in myeloproliferative neoplasms and MDS/MPN: a clinical study

SF3B1突变作为预测luspatercept治疗骨髓增生性肿瘤和MDS/MPN疗效的生物标志物:一项临床研究

Cui, Tingting; Gong, Jie; Zhang, Xinyu; Zhang, Juan; Wei, Na; Zheng, Wenqi; Duan, Minghui

Concurrent SF3B1 Mutation and BCR::ABL1 Demonstrating a Myelodysplastic Syndrome Phenotype: A Case Report

SF3B1 突变和 BCR::ABL1 同时突变表现为骨髓增生异常综合征表型:病例报告

Brailovski, Eugene; Vahedi, Amirali; Lisi, Véronique; Dmitrienko, Svetlana; Mercier, François E; Lavallée, Vincent-Philippe; Assouline, Sarit

SF3B1 Phosphorylation Prompts U2AF2 Dissociation for Widespread Control of pre-mRNA Splicing

SF3B1磷酸化促进U2AF2解离,从而广泛调控前体mRNA剪接

Kirchhoff, Christopher L; Powell, Hannah R; Galardi, Justin W; Loerch, Sarah; Pulvino, Mary J; Jenkins, Jermaine L; Boutz, Paul L; Kielkopf, Clara L