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

ACTA2 Pathogenic Variants Activating Heat Shock Factor 1 and Increasing Cholesterol Biosynthesis in Smooth Muscle Cells Predispose to Early Onset Atherosclerosis

ACTA2致病变异体激活热休克因子1并增加平滑肌细胞中的胆固醇生物合成,从而易导致早发性动脉粥样硬化

Boerio, Maura L; Chattopadhyay, Abhijnan; Duan, Xue-Yan; Karla, Aamuktha; Calderon Martinez, Ernesto; Pinard, Amelie; Morse, Andrew K; Reddy, Darshan; Dharma, Sree; Velasco-Torrez, Walter; Marcadier, Julien; Prakash, Siddharth K; Shalhub, Sherene; De Backer, Julie; Jeremy, Richmond; Morris, Shaine A; Yetman, Anji T; Braverman, Alan C; Milewicz, Dianna M

PRKG1 pathogenic variants cause thoracic aortic dissection with minimal aortic dilation: Insights from the UTHealth Houston multidisciplinary aortic and vascular disease conference

PRKG1致病变异导致胸主动脉夹层,但主动脉扩张程度极小:来自UTHealth休斯顿多学科主动脉和血管疾病会议的见解

Askari, Ali; Landes, Jennifer R; Cecchi, Alana; Duran, Cihan; Zhao, Bihong; Oderich, Gustavo S; Buja, L Maximilian; Milewicz, Dianna M; Estrera, Anthony L; Afifi, Rana O; Prakash, Siddharth K

Cardiovascular disease in adults with osteogenesis imperfecta: clinical characteristics, care recommendations, and research priorities identified using a modified Delphi technique

成骨不全成人患者的心血管疾病:采用改良德尔菲法确定的临床特征、护理建议和研究重点

Folkestad, Lars; Prakash, Siddharth K; Nagamani, Sandesh C S; Andersen, Niels Holmark; Carter, Erin; Hald, Jannie Dahl; Johnson, Riley J; Langdahl, Bente; Perfetto, Eleanor M; Raggio, Cathleen; Ralston, Stuart H; Sandhaus, Robert A; Semler, Oliver; Tosi, Laura; Orwoll, Eric

Pregnancy outcomes in women with heritable thoracic aortic disease: data from the EORP ESC registry of pregnancy and cardiac disease (ROPAC) III

患有遗传性胸主动脉疾病女性的妊娠结局:来自欧洲心脏病学会妊娠和心脏病登记研究(ROPAC)III 的数据

Peters, Puck N J; van der Zande, Johanna A; De Backer, Julie; Jondeau, Guillaume; Ahmad, Osama; Richardson, Marjorie; Comoglio, Francesca M; van der Zwaan, Heleen; Prakash, Siddharth K; Christersson, Christina; Ramlakhan, Karishma P; Hall, Roger; Johnson, Mark R; Roos-Hesselink, Jolien W

Contribution of rare chromosome 22q11.2 copy number variants to non-syndromic bicuspid aortic valve

罕见的22q11.2染色体拷贝数变异对非综合征性二叶式主动脉瓣的贡献

DiGregorio, Helene; Mansoorshahi, Sara; Carlisle, Steven G; Tovar Pensa, Catherina; Watts, Abi; McNeely, Courtney; Sabate-Rotes, Anna; Yetman, Anji; Michelena, Hector I; De Backer, Julie F A; Mosquera, Laura Muiño; Bissell, Malenka M; Andreassi, Maria Grazia; Foffa, Ilenia; Hui, Dawn S; Caffarelli, Anthony; Kim, Yuli Y; Citro, Rodolfo; De Marco, Margot; Tretter, Justin T; McBride, Kim L; Body, Simon C; Milewicz, Dianna M; Prakash, Siddharth K

Cell-Free DNA Results Indicating Mosaic Monosomy X of Likely Maternal Origin: Impact on Genetic Counseling Practices and Patient Experiences

无细胞DNA检测结果显示嵌合型X单体综合征可能源于母系遗传:对遗传咨询实践和患者体验的影响

McBride, Audrey; Cannon, Ashley; Prakash, Siddharth; Roberts, Aaron W; Seasely, Angela; Hurst, Anna C E; Hendon, Laura

Research Priorities of Individuals and Families With Sex Chromosome Aneuploidies

性染色体非整倍体患者及其家庭的研究重点

Carl, Alexandra; Bothwell, Samantha; Farah, Fathia; Swenson, Karli; Hong, David; Prakash, Siddharth; Strang, John; Tartaglia, Nicole; Raznahan, Armin; Ross, Judith; Davis, Shanlee

Lifelong aortic risk in Turner syndrome: Unexpected aortic events in asymptomatic patients

特纳综合征患者终生面临主动脉风险:无症状患者发生意外主动脉事件

Jaiswal, Milan; Mansoorshahi, Sara; Zachariah, Sharon; Macedo, Thanila; Cecchi, Alana C; Tanaka, Akiko; Estrera, Anthony L; Afifi, Rana O; Oderich, Gustavo S; Milewicz, Dianna M; Prakash, Siddharth K

Bicuspid Aortic Valve in Heritable Thoracic Aortic Disease: Insights from the Montalcino Aortic Consortium

遗传性胸主动脉疾病中的二叶式主动脉瓣:来自蒙塔尔奇诺主动脉联盟的见解

Asokan, Kishan L; Muraly, Neha; Guo, Dongchuan; Shah, Deep M; Martinez, Ernesto C; Cervi, Elena; De Backer, Julie; Mosquera, Laura Muiño; Renders, Wannes; Braverman, Alan C; Lim, Michelle; Ouzonian, Maral; Jeremy, Richmond W; Morris, Shaine A; Volguina, Irina V; Niaz, Talha; Yetman, Anji T; Jantzen, David W; Teixido-Tura, Gisela; Evangelista, Arturo; Jondeau, Guillaume; Milleron, Olivier; Milewicz, Dianna M; Prakash, Siddharth K