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

Specificity, length and luck drive gene rankings in association studies

在关联研究中,特异性、长度和运气决定了基因排名。

Spence, Jeffrey P; Mostafavi, Hakhamanesh; Ota, Mineto; Milind, Nikhil; Gjorgjieva, Tamara; Smith, Courtney J; Simons, Yuval B; Sella, Guy; Pritchard, Jonathan K

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

The stroke risk gene Foxf2 maintains brain endothelial cell function via Tie2 signaling

中风风险基因Foxf2通过Tie2信号通路维持脑内皮细胞功能。

Todorov-Völgyi, Katalin; González-Gallego, Judit; Müller, Stephan A; Todorov, Mihail Ivilinov; Seker, Fatma Burcu; Frerich, Simon; Cernilogar, Filippo M; Schröger, Luise; Malik, Rainer; Cao, Jiayu; Llovera, Gemma; Roth, Stefan; Schillinger, Ulrike; Schifferer, Martina; Reyahi, Azadeh; Crusius, Dennis; Pedro, Liliana D; Simons, Mikael; Carlsson, Peter; Ertürk, Ali; Liesz, Arthur; Schotta, Gunnar; Plesnila, Nikolaus; Lichtenthaler, Stefan F; Paquet, Dominik; Dichgans, Martin

In vivo CRISPR screen reveals regulation of macrophage states in neuroinflammation

体内CRISPR筛选揭示了神经炎症中巨噬细胞状态的调控

de la Rosa, Clara; Kendirli, Arek; Baygün, Seren; Bauernschmitt, Franz; Thomann, Anna S; Kisioglu, Ilgin; Beckmann, Daniela; Carpentier Solorio, Yves; Pfaffenstaller, Veronika; Tai, Yi-Heng; Mehraein, Niel; Sanchez, Paula; Spieth, Lena; Gerdes, Lisa Ann; Beltran, Eduardo; Dornmair, Klaus; Simons, Mikael; Peters, Anneli; Schmidt-Supprian, Marc; Kerschensteiner, Martin

Vascular Endothelial Growth Factor-D Improves Lung Vascular Integrity During Acute Lung Injury.

血管内皮生长因子-D可改善急性肺损伤期间的肺血管完整性。

Yoon Yongdae, Sharma Lokesh, Tang Wenwen, Kirk Shannon, Raredon Micha Sam Brickman, Ahangari Farida, Khoury Johad, Qian Hong, Ke Yunbo, Tulapurkar Mohan, Liu Ruya, Luan Yi, Yuan Qianying, Chen Lujia, Birukov Konstantin, Simons Michael, Wu Dianqing, Niklason Laura E, Kaminski Naftali, Yuan Yifan

Retraction Note: SUMOylation of VEGFR2 regulates its intracellular trafficking and pathological angiogenesis

撤稿声明:VEGFR2的SUMO化修饰调控其细胞内转运和病理性血管生成。

Zhou, Huanjiao Jenny; Xu, Zhe; Wang, Zongren; Zhang, Haifeng; Zhuang, Zhen W; Simons, Michael; Min, Wang

TREM2 expression level is critical for microglial state, metabolic capacity and efficacy of TREM2 agonism

TREM2表达水平对小胶质细胞状态、代谢能力和TREM2激动剂的疗效至关重要。

Feiten, Astrid F; Dahm, Kilian; Schlepckow, Kai; van Lengerich, Bettina; Suh, Jung H; Reifschneider, Anika; Wefers, Benedikt; Bartos, Laura M; Wind-Mark, Karin; de Weerd, Lis; Ulas, Thomas; De-Domenico, Elena; Grundschöttel, Pia; Paulusch, Stefan; Tast, Benjamin; Honda, Tamisa; Müller, Stephan A; Becker, Matthias; Khalin, Igor; Ricci, Alessio; Liesz, Arthur; Brunner, Bettina; Krenner, Claudia; Buschmann, Katrin; Nuscher, Brigitte; Spieth, Lena; Junker, Niklas; Berghoff, Stefan A; Davis, Sonnet S; Neher, Jonas J; Wurst, Wolfgang; Plesnila, Nikolaus; Lewcock, Joseph W; Simons, Mikael; Lichtenthaler, Stefan F; Di Paolo, Gilbert; Brendel, Matthias; Capell, Anja; Monroe, Kathryn M; Schultze, Joachim L; Haass, Christian

TWIST1 drives endothelial-to-mesenchymal-transition to stabilize atherosclerotic plaques.

TWIST1 驱动内皮细胞向间质细胞转化,从而稳定动脉粥样硬化斑块。

Tardajos Ayllon Blanca, Diagbouga Mannekomba, Das Ankita, Tian Siyu, Edsfeldt Andreas, Kalucka Joanna, Serbanovic-Canic Jovana, Chambers Emily, Sun Jiangming, Gialeli Chrysostomi, Dunning Mark, Francis Sheila E, Li Xiuying, Mammoto Akiko, Simons Michael, Jørgensen Helle F, Goncalves Isabel, Xu Suowen, Evans Paul C

Impact of Intended Isocaloric Early versus Late Time-Restricted Eating on Plasma Lipidome in Women with Overweight or Obesity: Secondary Analysis of the ChronoFast Trial

计划性等热量早期与晚期限时进食对超重或肥胖女性血浆脂质组的影响:ChronoFast试验的二次分析

Szekely, Kristof; Gerl, Mathias J; Peters, Beeke; Schwarz, Julia; Schuppelius, Bettina; Damm, Markus; Soliz-Rueda, Jorge R; Sehgal, Ratika; Lazaratos, Michail; Klose, Christian; Simons, Kai; Pfeiffer, Andreas F H; Schürmann, Annette; Kramer, Achim; Michalsen, Andreas; Pivovarova-Ramich, Olga