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

High-resolution promoter interaction analysis implicates genes involved in the activation of Type 3 Innate Lymphoid Cells in autoimmune disease risk

高分辨率启动子相互作用分析表明,参与激活3型固有淋巴细胞的基因与自身免疫性疾病风险相关。

Malysheva, Valeriya; Ray-Jones, Helen; Lakes, Nora; Brown, Rachel A; Cazares, Tareian A; Clay, Owen; Ohayon, David E; Artemov, Pavel; Wayman, Joseph A; Yang, Zi F; Della Rosa, Monica; Petitjean, Carmen; Booth, Clarissa; Ellaway, Joseph I J; Barnes, Jenna R; Dangel, Andrew W; Saini, Ankita; Orchard, William R; Chen, Xiaoting; Parameswaran, Sreeja; Burden, Frances; Frontini, Mattia; Nagano, Takashi; Fraser, Peter; Schoenfelder, Stefan; Weirauch, Matthew T; Kottyan, Leah C; Smith, David F; Powell, Nick; Weimer, Jill M; Oltz, Eugene M; Wallace, Chris; Miraldi, Emily R; Waggoner, Stephen; Spivakov, Mikhail

Genetic coupling of enhancer activity and connectivity in gene expression control.

基因表达控制中增强子活性和连接性的遗传耦合

Ray-Jones Helen, Sung Chak Kei, Chan Lai Ting, Haglund Alexander, Artemov Pavel, Della Rosa Monica, Ruje Luminita, Burden Frances, Kreuzhuber Roman, Litovskikh Anna, Weyenbergh Eline, Brusselaers Zoï, Tan Vanessa Xue Hui, Frontini Mattia, Wallace Chris, Malysheva Valeriya, Bottolo Leonardo, Vigorito Elena, Spivakov Mikhail

The common VTE-protective G haplotype of F5 increases factor V-short, TFPI function, and risk of bleeding

F5 的常见 VTE 保护性 G 单倍型会增加 V 因子短链、TFPI 功能和出血风险。

Sims, Matthew C; Gierula, Magdalena; Stephens, Jonathan C; Tokolyi, Alex; Stefanucci, Luca; Persyn, Elodie; Sun, Luanluan; Collins, Janine H; Davenport, Emma E; Di Angelantonio, Emanuele; Downes, Kate; Inouye, Michael; Paul, Dirk S; Thomas, Will; Tolios, Alexander; Ouwehand, Willem H; Gleadall, Nicholas S; Crawley, James T B; Butterworth, Adam S; Frontini, Mattia; Ahnström, Josefin

Oxidised Apolipoprotein Peptidome Characterises Metabolic Dysfunction-Associated Steatotic Liver Disease

氧化载脂蛋白肽组可表征代谢功能障碍相关的脂肪肝疾病

Mocciaro, Gabriele; George, Amy L; Allison, Michael; Frontini, Mattia; Huang-Doran, Isabel; Reiman, Frank; Gribble, Fiona; Griffin, Julian L; Vidal-Puig, Antonio; Azzu, Vian; Kay, Richard; Vacca, Michele

Human and mouse platelet transcriptomes and proteomes for phenotyping 3474 genes with hemostatic and platelet traits

利用人和小鼠血小板转录组和蛋白质组对3474个与止血和血小板性状相关的基因进行表型分析

Huang, Jingnan; Marini, Federico; Solari, Fiorella A; Swieringa, Frauke; de Laat, Bas; De Simone, Ilaria; Grassi, Luigi; Gui, Xiang; Li, Kunpeng; Middleton, Elizabeth A; Morgan, Neil V; Provenzale, Isabella; Santos, Carina; Schols, Saskia; Westbury, Sarah; Sickmann, Albert; Rondina, Matthew T; Ruf, Wolfram; Frontini, Mattia; Heemskerk, Johan W M

SMIM1 absence is associated with reduced energy expenditure and excess weight

SMIM1基因缺失与能量消耗减少和体重超重有关。

Stefanucci, Luca; Moslemi, Camous; Tomé, Ana R; Virtue, Samuel; Bidault, Guillaume; Gleadall, Nicholas S; Watson, Laura P E; Kwa, Jing E; Burden, Frances; Farrow, Samantha; Chen, Ji; Võsa, Urmo; Burling, Keith; Walker, Lindsay; Ord, John; Barker, Peter; Warner, James; Frary, Amy; Renhstrom, Karola; Ashford, Sofie E; Piper, Jo; Biggs, Gail; Erber, Wendy N; Hoffman, Gary J; Schoenmakers, Nadia; Erikstrup, Christian; Rieneck, Klaus; Dziegiel, Morten H; Ullum, Henrik; Azzu, Vian; Vacca, Michele; Aparicio, Hugo Javier; Hui, Qin; Cho, Kelly; Sun, Yan V; Wilson, Peter W; Bayraktar, Omer A; Vidal-Puig, Antonio; Ostrowski, Sisse R; Astle, William J; Olsson, Martin L; Storry, Jill R; Pedersen, Ole B; Ouwehand, Willem H; Chatterjee, Krishna; Vuckovic, Dragana; Frontini, Mattia

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants

致病性和可能致病性变异对140214名英国生物银行参与者遗传性止血障碍的影响

Stefanucci, Luca; Collins, Janine; Sims, Matthew C; Barrio-Hernandez, Inigo; Sun, Luanluan; Burren, Oliver S; Perfetto, Livia; Bender, Isobel; Callahan, Tiffany J; Fleming, Kathryn; Guerrero, Jose A; Hermjakob, Henning; Martin, Maria J; Stephenson, James; Paneerselvam, Kalpana; Petrovski, Slavé; Porras, Pablo; Robinson, Peter N; Wang, Quanli; Watkins, Xavier; Frontini, Mattia; Laskowski, Roman A; Beltrao, Pedro; Di Angelantonio, Emanuele; Gomez, Keith; Laffan, Mike; Ouwehand, Willem H; Mumford, Andrew D; Freson, Kathleen; Carss, Keren; Downes, Kate; Gleadall, Nick; Megy, Karyn; Bruford, Elspeth; Vuckovic, Dragana

Non-alcoholic fatty liver disease is characterised by a reduced polyunsaturated fatty acid transport via free fatty acids and high-density lipoproteins (HDL)

非酒精性脂肪肝的特征是游离脂肪酸和高密度脂蛋白(HDL)介导的多不饱和脂肪酸转运减少。

Mocciaro, Gabriele; Allison, Michael; Jenkins, Benjamin; Azzu, Vian; Huang-Doran, Isabel; Herrera-Marcos, Luis Vicente; Hall, Zoe; Murgia, Antonio; Susan, Davies; Frontini, Mattia; Vidal-Puig, Antonio; Koulman, Albert; Griffin, Julian L; Vacca, Michele

Increased bleeding and thrombosis in myeloproliferative neoplasms mediated through altered expression of inherited platelet disorder genes

骨髓增生性肿瘤中出血和血栓形成增加是由遗传性血小板疾病基因表达改变介导的。

Mitchell, Alan; Frontini, Mattia; Islam, Serajul; Sivapalaratnam, Suthesh; Krishnan, Anandi

Non-coding genetic variation in regulatory elements determines thrombosis and hemostasis phenotypes

调控元件中的非编码基因变异决定血栓形成和止血表型

Stefanucci, Luca; Frontini, Mattia