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

Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy

RNU2-2基因的双等位基因变异会导致一种非常常见的发育性和癫痫性脑病。

Jackson, Adam; Blakes, Alexander J M; Alhaddad, Bader; Henry, Olivia J; Delgado-Vega, Angelica M; Wall, Elizabeth; Abdelhadi, Ola; Agrawal, Shakti; Bakur, Khadijah; Blair, Edward; Brady, Angela F; Brittain, Helen; Chandler, Kate E; Clarke, Natasha; Danelli, Miriana; Drinkall, Nicholas; Duba, Irene; Elmslie, Frances; Ellingford, Jamie; Ewans, Lisa J; Fennell, Andrew P; Gazdagh, Gabriella; Heller, Simon P; Hammarsjö, Anna; Karrman, Kristina; Kini, Usha; Lesko, Nicole; Lindstrand, Anna; Macintosh, Rebecca; Mansour, Sahar; Menzies, Lara; Metcalfe, Kay; Milhench, Alison; Nashef, Lina; O'Keefe, Raymond T; Pacheco, Nadja Pekkola; Palmer, Elizabeth E; Parida, Amitav; Prescott, Katrina; Redman, Melody; Renieri, Alessandra; Fallerini, Chiara; Rizzo, Caterina Lo; Sachdev, Rani; Simons, Cas; Sisodiya, Sanjay M; Stewart, Helen; Stödberg, Tommy; Banos-Pinero, Benito; Taylan, Fulya; Thomas, Huw B; Tinella, Flavia; Wiafe, Samuel; Wedell, Anna; Whiffin, Nicola; Walker, Susan; Rius, Rocio; Chae, Jong Hee; Nordgren, Ann; Alkuraya, Fowzan; Lord, Jenny; Banka, Siddharth

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

非编码RNA基因RNU4-2的双等位基因变异会导致一种隐性遗传的神经发育综合征,并伴有明显的白质改变。

Rius, Rocio; Blakes, Alexander J M; Chen, Yuyang; De Jonghe, Joachim; Lecoquierre, François; Dawes, Ruebena; Cogne, Benjamin; Kim, Hyung Chul; Alvi, Javeria R; Amblard, Florence; Ansari, Morad; Arlt, Annabelle; Austin-Tse, Christina; Baer, Sarah; Balasubramanian, Meena; Balton, Elsa V; Barcia, Giulia; Beleza-Meireles, Ana; Bernstein, Jonathan A; Beygo, Jasmin; Blanc, Pierre; Bramswig, Nuria C; Braun, Frederik; Buchzik, Daniel; Calame, Daniel G; Campbell, Jamie; Coutton, Charles; Cunningham, Chloe A; Dargie, Nitsuh; Depienne, Christel; Dipple, Katrina M; Dieux, Anne; Dixit, Abhijit; Dreyer, Lauren; Du, Haowei; El Chehadeh, Salima; Field, Michael; Ewans, Lisa J; Geiger, Vanessa; Gibbs, Richard A; Glass, Ian; Grunewald, Olivier; Gueguen, Paul; Haack, Tobias B; Hadj Abdallah, Hamza; Harbuz, Radu; Helbig, Ingo; Horvath, Judit; Hustinx, Alexander; Isidor, Bertrand; Jacquemont, Marie-Line; Jamie, Fraser; Jeanne, Médéric; Kessler, Riley; Klinkhammer, Hannah; Korenke, G Christoph; Kotzaeridou, Urania; Krawitz, Peter; Laurie, Steven; Leventer, Richard J; Levy, Rebecca J; Lupski, James R; Marijon, Pierre; McGinnis, Kaitlin E; Mendez, Rodrigo; Messaoud, Olfa; Nava, Caroline; Nizard, Mevyn; O'Donnell-Luria, Anne; O'Leary, Melanie C; Olivieri, Simone; Parida, Amitav; Pehlivan, Davut; Prentice, Anna Jenne; Posey, Jennifer E; Reuter, Chloe M; Satre, Véronique; Schluth-Bolard, Caroline; Smol, Thomas; Sultan, Tipu; Taylor, John; Thauvin-Robinetvin, Christel; Thevenon, Julien; Uebergang, Eloise; Ueberberg, Sandra; Vincent-Delorme, Catherine; Wassmer, Evangeline; Westwood, Emma; Wheeler, Matthew T; Gulec, Elif Yilmaz; Vanderver, Adeline; Vossough, Arastoo; Sanders, Stephan J; Banka, Siddharth; Findlay, Gregory M; MacArthur, Daniel G; Simons, Cas; Whiffin, Nicola

Spermine Oxidase Serves as a Key Functional Node in Microbial Dysbiosis-Induced Breast Carcinogenesis.

亚精胺氧化酶在微生物菌群失调诱发的乳腺癌发生过程中起着关键的功能作用。

Nandi Deeptashree, Parida Sheetal, Verma Deepak, Foley Jackson R, Stewart Tracy Murray, Korangath Preethi, Thatikonda Sowjanya, Siddharth Sumit, Wu Qitong, Yi Mingyang, Bishai William, Ivkov Robert, Sears Cynthia L, Casero Robert A Jr, Sharma Dipali

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

Biallelic GLTP mutations cause nonsyndromic epidermal differentiation disorder via disrupted epidermal glucosylceramide transport.

双等位基因 GLTP 突变通过破坏表皮葡糖基神经酰胺的转运,导致非综合征性表皮分化障碍。

Zhang Zeqiao, Huang Shimiao, Jackson Adam, Jones Elizabeth A, Banka Siddharth, Yang Chao, Zhao Sisi, Lv Kunlun, Peng Sha, Lin Zhimiao, Wang Huijun

Oncolytic vaccinia virus encoding constitutively active EPAC remodels the tumor microenvironment to enhance therapeutic efficacy with chemotherapy and surgery.

编码组成型活性EPAC的溶瘤痘苗病毒可重塑肿瘤微环境,从而增强化疗和手术的治疗效果。

Boulton Stephen, Singh Siddharth, Organ Bailey, Thomas Julia, Rezaei Reza, Gill Rida, Vallati Sydney, Guo Quanshen, Dave Jaahnavi, Petryk Julia, De Souza Christiano Tanese, Austin Bradley, He Xiaohong, Gingrich Amy, Crupi Mathieu J F, Singaravelu Ragunath, Ilkow Carolina, Bell John C

Propionic Acid Outperforms Formic and Acetic Acid in MS Sensitivity for High-Flow Reversed-Phase LC-MS Bottom-Up Proteomics

在高流速反相液相色谱-质谱自下而上蛋白质组学分析中,丙酸的质谱灵敏度优于甲酸和乙酸。

Starovoit, Mykyta R; Jadeja, Siddharth; Kupčík, Rudolf; Vatić, Saša; Rasl, Jan; Demir, Derya; Novák, Petr; Braswell, Cameron; Orsburn, Benjamin C; Lenčo, Juraj

Recent Advances in Catalytic Conversion of Bioethanol to 1,3-Butadiene: Reaction Mechanism, Catalyst Design, and Process Scalability

生物乙醇催化转化为1,3-丁二烯的最新进展:反应机理、催化剂设计和工艺放大

Varma, Abhishek R; Rahman, Md Ziyaur; Gadkari, Siddharth; Tawai, Atthasit; Sriariyanun, Malinee; Xia, Ao; Kumar, Vinod; Maity, Sunil K

Spleen Tyrosine Kinase (SYK) is Necessary for cGAS-STING Signaling in Müller Glia and Visual Function Deficits in Diabetic Mice

脾酪氨酸激酶(SYK)是糖尿病小鼠Müller胶质细胞中cGAS-STING信号传导和视觉功能缺陷所必需的

Yerlikaya, Esma I; Sunilkumar, Siddharth; Subrahmanian, Sandeep M; Toro, Allyson L; Yeager, Clay T; Shaikh, Kashif A; Harhaj, Edward W; Barber, Alistair J; Dennis, Michael D