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

Genome and Transcriptome-Wide Analyses Identify Multiple Candidate Genes and a Significant Polygenic Contribution in Bicuspid Aortic Valve

全基因组和转录组分析鉴定出多个候选基因,并揭示了二叶式主动脉瓣中显著的多基因贡献

Thériault, Sébastien; Holdcraft, Jacob A; Sharipova, Dinara; Faucherre, Adèle; Debiec, Radoslaw M; Peloso, Gina M; Al-Kassou, Baravan; Aranki, Sary; Ashikhmina Swan, Elena; Ballotta, Andrea; Bellino, Michele; Björck, Hanna M; Boureau, Anne Sophie; Braund, Peter S; Corriveau, François; Dagenais, François; Folkersen, Lasse; Forte, Amalia; Francke, Michael D; Frigiola, Alessandro; Gorbatov, Svetlana; Guo, Dongchuan; Habchi, Karam M; Heydarpour, Mahyar; Isselbacher, Eric M; Jopling, Chris; Laporte, Fabien; Le Scouarnec, Solena; Li, Zhonglin; Lichtner, Peter; Maj, Carlo; Manikpurage, Hasanga D; Nelson, Christopher P; Nguyen, Thy B; Norris, Russell A; Ong, Chin Siang; Pibarot, Philippe; Roychowdhury, Tanmoy; Sarubbi, Berardo; Simonet, Floriane; Sundt, Thoralf; Surakka, Ida; Tessler, Idit; Willer, Cristen J; Wittmann, Susanne; Yang, Bo; Berezovets, Igor; Doppler, Stefanie A; Dreßen, Martina; Knoll, Katharina; Puehler, Thomas; Schunkert, Heribert; Avierinos, Jean-François; Bissell, Malenka M; Bolger, Aidan P; Bossé, Yohan; Bossone, Eduardo; Brion, María; Citro, Rodolfo; de Vincentiis, Carlo; Deeb, G Michael; Della Corte, Alessandro; Dina, Christian; Durst, Ronen; Ensminger, Stephan; Eriksson, Per; Evangelista, Arturo; Franco-Cereceda, Anders; Gilon, Dan; Giusti, Betti; Hetherington, Simon L; Huggins, Gordon S; Krane, Markus; Le Tourneau, Thierry; Limongelli, Giuseppe; Mathieu, Patrick; Messika-Zeitoun, David; Michelena, Hector I; Milewicz, Dianna; Muehlschlegel, Jochen D; Murdock, David R; Nickenig, Georg; Nistri, Stefano; Nöthen, Markus M; Pluchinotta, Francesca; Prakash, Siddharth K; Samani, Nilesh J; Schott, Jean-Jacques; Webb, Tom R; Zaffran, Stéphane; Abdelilah-Seyfried, Salim; Eagle, Kim; Schumacher, Johannes; Trenkwalder, Teresa; Body, Simon C

Distinct Genetic Risk Profile in Aortic Stenosis Compared With Coronary Artery Disease

主动脉瓣狭窄与冠状动脉疾病的遗传风险特征存在显著差异

Trenkwalder, Teresa; Maj, Carlo; Al-Kassou, Baravan; Debiec, Radoslaw; Doppler, Stefanie A; Musameh, Muntaser D; Nelson, Christopher P; Dasmeh, Pouria; Grover, Sandeep; Knoll, Katharina; Naamanka, Joonas; Mordi, Ify R; Braund, Peter S; Dreßen, Martina; Lahm, Harald; Wirth, Felix; Baldus, Stephan; Kelm, Malte; von Scheidt, Moritz; Krefting, Johannes; Ellinghaus, David; Small, Aeron M; Peloso, Gina M; Natarajan, Pradeep; Thanassoulis, George; Engert, James C; Dufresne, Line; Franke, Andre; Görg, Siegfried; Laudes, Matthias; Nowak-Göttl, Ulrike; Vaht, Mariliis; Metspalu, Andres; Stoll, Monika; Berger, Klaus; Pellegrini, Costanza; Kastrati, Adnan; Hengstenberg, Christian; Lang, Chim C; Kessler, Thorsten; Hovatta, Iiris; Nickenig, Georg; Nöthen, Markus M; Krane, Markus; Schunkert, Heribert; Samani, Nilesh J; Schumacher, Johannes; Kals, Mart; Reigo, Anu; Teder-Laving, Maris; Gehlen, Jan; Webb, Thomas R; Giel, Ann-Sophie; Koebbe, Laura L; Feirer, Nina; Billmann, Maximilian; Srinivasan, Sundar; Zimmer, Sebastian; Palmer, Colin N A; Li, Ling; Yang, Chuhua; Borisov, Oleg; Adam, Matti; Veulemans, Verena; Joner, Michael; Xhepa, Erion

Discovery of myosin light chain kinase gene variant in a patient with tetralogy of Fallot suffering aortic dissection: Implications for pathogenesis and the role of family and population screening

在一名患有法洛四联症并伴有主动脉夹层的患者中发现肌球蛋白轻链激酶基因变异:对发病机制的启示以及家族和人群筛查的作用

Debiec, Radoslaw; Ebeid, Armia; Hamby, Stephen; Anciunaite, Odeta; Illsley, Anne; Nizam, Ali; Iqbal, Madiha; Safwan, Kassem; Saifullah, Tariq; Bu'Lock, Frances; Suzuki, Toru; Samani, Nilesh J; Webb, Tom; Bolger, Aidan P

Elucidation of the genetic causes of bicuspid aortic valve disease

阐明二叶式主动脉瓣疾病的遗传病因

Gehlen, Jan; Stundl, Anja; Debiec, Radoslaw; Fontana, Federica; Krane, Markus; Sharipova, Dinara; Nelson, Christopher P; Al-Kassou, Baravan; Giel, Ann-Sophie; Sinning, Jan-Malte; Bruenger, Christopher M H; Zelck, Carolin F; Koebbe, Laura L; Braund, Peter S; Webb, Thomas R; Hetherington, Simon; Ensminger, Stephan; Fujita, Buntaro; Mohamed, Salah A; Shrestha, Malakh; Krueger, Heike; Siepe, Matthias; Kari, Fabian Alexander; Nordbeck, Peter; Buravezky, Larissa; Kelm, Malte; Veulemans, Verena; Adam, Matti; Baldus, Stephan; Laugwitz, Karl-Ludwig; Haas, Yannick; Karck, Matthias; Mehlhorn, Uwe; Conzelmann, Lars Oliver; Breitenbach, Ingo; Lebherz, Corinna; Urbanski, Paul; Kim, Won-Keun; Kandels, Joscha; Ellinghaus, David; Nowak-Goettl, Ulrike; Hoffmann, Per; Wirth, Felix; Doppler, Stefanie; Lahm, Harald; Dreßen, Martina; von Scheidt, Moritz; Knoll, Katharina; Kessler, Thorsten; Hengstenberg, Christian; Schunkert, Heribert; Nickenig, Georg; Nöthen, Markus M; Bolger, Aidan P; Abdelilah-Seyfried, Salim; Samani, Nilesh J; Erdmann, Jeanette; Trenkwalder, Teresa; Schumacher, Johannes

Evaluating the clinical effectiveness of the NHS Health Check programme: a prospective analysis in the Genetics and Vascular Health Check (GENVASC) study

评估英国国家医疗服务体系(NHS)健康检查计划的临床有效性:遗传与血管健康检查(GENVASC)研究的前瞻性分析

Debiec, Radoslaw; Lawday, Daniel; Bountziouka, Vasiliki; Beeston, Emma; Greengrass, Chris; Bramley, Richard; Sehmi, Sue; Kharodia, Shireen; Newton, Michelle; Marshall, Andrea; Krzeminski, Andre; Zafar, Azhar; Chahal, Anuj; Heer, Amardeep; Khunti, Kamlesh; Joshi, Nitin; Lakhani, Mayur; Farooqi, Azhar; Patel, Riyaz; Samani, Nilesh J

Effects of the coronary artery disease associated LPA and 9p21 loci on risk of aortic valve stenosis

冠状动脉疾病相关LPA和9p21位点对主动脉瓣狭窄风险的影响

Trenkwalder, Teresa; Nelson, Christopher P; Musameh, Muntaser D; Mordi, Ify R; Kessler, Thorsten; Pellegrini, Costanza; Debiec, Radoslaw; Rheude, Tobias; Lazovic, Viktor; Zeng, Lingyao; Martinsson, Andreas; Gustav Smith, J; Gådin, Jesper R; Franco-Cereceda, Anders; Eriksson, Per; Nielsen, Jonas B; Graham, Sarah E; Willer, Cristen J; Hveem, Kristian; Kastrati, Adnan; Braund, Peter S; Palmer, Colin N A; Aracil, Amparo; Husser, Oliver; Koenig, Wolfgang; Schunkert, Heribert; Lang, Chim C; Hengstenberg, Christian; Samani, Nilesh J

Systematic Review of Studies That Have Evaluated Screening Tests in Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Disease

对评估非综合征性胸主动脉疾病患者亲属筛查试验的研究进行系统评价

Mariscalco, Giovanni; Debiec, Radoslaw; Elefteriades, John A; Samani, Nilesh J; Murphy, Gavin J

Renal Mechanisms of Association between Fibroblast Growth Factor 1 and Blood Pressure

成纤维细胞生长因子1与血压关联的肾脏机制

Tomaszewski, Maciej; Eales, James; Denniff, Matthew; Myers, Stephen; Chew, Guat Siew; Nelson, Christopher P; Christofidou, Paraskevi; Desai, Aishwarya; Büsst, Cara; Wojnar, Lukasz; Musialik, Katarzyna; Jozwiak, Jacek; Debiec, Radoslaw; Dominiczak, Anna F; Navis, Gerjan; van Gilst, Wiek H; van der Harst, Pim; Samani, Nilesh J; Harrap, Stephen; Bogdanski, Pawel; Zukowska-Szczechowska, Ewa; Charchar, Fadi J

Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms

全基因组比较分析揭示特应性皮炎和银屑病的相反遗传机制

Christofidou, Paraskevi; Nelson, Christopher P; Nikpay, Majid; Qu, Liming; Li, Mingyao; Loley, Christina; Debiec, Radoslaw; Braund, Peter S; Denniff, Matthew; Charchar, Fadi J; Arjo, Ares Rocanin; Trégouët, David-Alexandre; Goodall, Alison H; Cambien, Francois; Ouwehand, Willem H; Roberts, Robert; Schunkert, Heribert; Hengstenberg, Christian; Reilly, Muredach P; Erdmann, Jeanette; McPherson, Ruth; König, Inke R; Thompson, John R; Samani, Nilesh J; Tomaszewski, Maciej; Garber, Kathryn B; Ratzel, Sarah; Cullinan, Sara B; Baurecht, Hansjörg; Hotze, Melanie; Brand, Stephan; Büning, Carsten; Cormican, Paul; Corvin, Aiden; Ellinghaus, David; Ellinghaus, Eva; Esparza-Gordillo, Jorge; Fölster-Holst, Regina; Franke, Andre; Gieger, Christian; Hubner, Norbert; Illig, Thomas; Irvine, Alan D; Kabesch, Michael; Lee, Young AE; Lieb, Wolfgang; Marenholz, Ingo; McLean, WH Irwin; Morris, Derek W; Mrowietz, Ulrich; Nair, Rajan; Nöthen, Markus M; Novak, Natalija; O’Regan, Grainne M; Schreiber, Stefan; Smith, Catherine; Strauch, Konstantin; Stuart, Philip E; Trembath, Richard; Tsoi, Lam C; Weichenthal, Michael; Barker, Jonathan; Elder, James T; Weidinger, Stephan; Cordell, Heather J; Brown, Sara J

Urotensin-II system in genetic control of blood pressure and renal function

尿张素II系统在血压和肾功能的遗传调控中的作用

Debiec, Radoslaw; Christofidou, Paraskevi; Denniff, Matthew; Bloomer, Lisa D; Bogdanski, Pawel; Wojnar, Lukasz; Musialik, Katarzyna; Charchar, Fadi J; Thompson, John R; Waterworth, Dawn; Song, Kijoung; Vollenweider, Peter; Waeber, Gerard; Zukowska-Szczechowska, Ewa; Samani, Nilesh J; Lambert, David; Tomaszewski, Maciej