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

Regional nonsense constraint offers biological and clinical insights into genetic disease

区域性无义突变约束为遗传疾病的生物学和临床研究提供了重要见解。

Blakes, Alexander J M; Whiffin, Nicola; Johnson, Colin A; Ellingford, Jamie M; Banka, Siddharth

A machine learning classifier to identify and prioritise genes associated with murine cardiac development

一种用于识别和优先排序与小鼠心脏发育相关的基因的机器学习分类器

Kabir, Mitra; Hartill, Verity; Farr Iii, Gist H; Shaikh Qureshi, Wasay Mohiuddin; Baross, Stephanie L; Doig, Andrew J; Talavera, David; Waterfield, Michael R; Keavney, Bernard D; Maves, Lisa; Johnson, Colin A; Hentges, Kathryn E

Cleavage of the Meckel-Gruber syndrome protein TMEM67 by ADAMTS9 uncouples Wnt signaling and ciliogenesis.

ADAMTS9 对 Meckel-Gruber 综合征蛋白 TMEM67 的切割可使 Wnt 信号传导与纤毛发生解耦联

Ahmed Manu, Fischer Sydney, Robert Karyn L, Lange Karen I, Stuck Michael W, Best Sunayna, Johnson Colin A, Pazour Gregory J, Blacque Oliver E, Nandadasa Sumeda

Molecular diagnoses and candidate gene identification in the congenital heart disease cohorts of the 100,000 genomes project

在“十万基因组计划”先天性心脏病队列中进行分子诊断和候选基因鉴定

Hartill, Verity; Kabir, Mitra; Best, Sunayna; Shaikh Qureshi, Wasay Mohiuddin; Baross, Stephanie L; Lord, Jenny; Yu, Jing; Sasaki, Erina; Needham, Hazel; Shears, Deborah; Roche, Matthew; Wall, Elizabeth; Cooper, Nicola; Ryan, Gavin; Eason, Jacqueline; Johnson, Robert; Keavney, Bernard; Hentges, Kathryn E; Johnson, Colin A

Threonine and tyrosine kinase (TTK) mRNA and protein expression in breast cancer; prognostic significance in the neoadjuvant setting

乳腺癌中苏氨酸和酪氨酸激酶 (TTK) mRNA 和蛋白表达;新辅助治疗中的预后意义

Ashi, Abrar; Awaji, Aeshah A; Bond, Jacquelyn; Johnson, Colin A; Shaaban, Abeer M; Bell, Sandra M

AgileMultiIdeogram: Rapid Identification and Visualization of Autozygous Regions Using Illumina Short-Read Sequencing Data

AgileMultiIdeogram:利用Illumina短读测序数据快速识别和可视化纯合区域

Watson, Christopher M; Lascelles, Carolina; Raynor, Morag; Elpidorou, Marilena; Hany, Ummey; Crinnion, Laura; Johnson, Colin A; Sheridan, Eamonn; Markham, Alexander F; Poulter, James A; Bonthron, David T; Carr, Ian M

The RNA splicing factor PRPF8 is required for left-right organiser cilia function and determination of cardiac left-right asymmetry via regulation of Arl13b splicing.

RNA 剪接因子 PRPF8 是左右组织纤毛功能所必需的,它通过调节 Arl13b 剪接来决定心脏左右不对称性

Jiang Fangfei, Boylan Michael, Maxwell Dale W, Qureshi Wasay Mohiuddin Shaikh, Rowlands Charlie F, Tenin Gennadiy, Mitchell Karen, Stephen Louise A, Vasconcelos Elton J R, Wang Dapeng, Chen Tong, Zha Junzhe, Liu Jingshu, Althali Nouf, Leordean Dragos V, Gallagher Meurig T, Basu Basudha, Szymanska Katarzyna, Veeraghanta Advait, Keavney Bernard, Humphries Martin J, Ellingford Jamie, Smith David, Johnson Colin A, O'Keefe Raymond T, Roy Sudipto, Hentges Kathryn E

Drug and siRNA screens identify ROCK2 as a therapeutic target for ciliopathies.

药物和siRNA筛选确定ROCK2是纤毛病的一种治疗靶点

Smith Claire E L, Streets Andrew J, Lake Alice V R, Natarajan Subaashini, Best Sunayna K, Szymanska Katarzyna, Karwatka Magdalena, Stevenson Thomas, Trowbridge Rachel, Grant Gary, Grellscheid Sushma N, Foster Richard, Morrison Ciaran G, Mavria Georgia, Bond Jacquelyn, Ong Albert C M, Johnson Colin A

PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5´-splice-site selection causing tissue-specific defects

PRPF8介导的hBrr2解旋酶失调会破坏人类剪接体的动力学和5'剪接位点的选择,从而导致组织特异性缺陷。

Atkinson, Robert; Georgiou, Maria; Yang, Chunbo; Szymanska, Katarzyna; Lahat, Albert; Vasconcelos, Elton J R; Ji, Yanlong; Moya Molina, Marina; Collin, Joseph; Queen, Rachel; Dorgau, Birthe; Watson, Avril; Kurzawa-Akanbi, Marzena; Laws, Ross; Saxena, Abhijit; Shyan Beh, Chia; Siachisumo, Chileleko; Goertler, Franziska; Karwatka, Magdalena; Davey, Tracey; Inglehearn, Chris F; McKibbin, Martin; Lührmann, Reinhard; Steel, David H; Elliott, David J; Armstrong, Lyle; Urlaub, Henning; Ali, Robin R; Grellscheid, Sushma-Nagaraja; Johnson, Colin A; Mozaffari-Jovin, Sina; Lako, Majlinda

Racgap1 knockdown results in cells with multiple cilia due to cytokinesis failure

Racgap1基因敲低会导致细胞胞质分裂失败,从而产生多根纤毛。

Basu, Basudha; Lake, Alice V R; China, Becky; Szymanska, Katarzyna; Wheway, Gabrielle; Bell, Sandra; Morrison, Ewan; Bond, Jacquelyn; Johnson, Colin A