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

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

U4 和 U6 snRNA 基因的新生突变和遗传性显性突变会导致视网膜色素变性。

Quinodoz, Mathieu; Rodenburg, Kim; Cvackova, Zuzana; Kaminska, Karolina; de Bruijn, Suzanne E; Iglesias-Romero, Ana Belén; Boonen, Erica G M; Ullah, Mukhtar; Zomer, Nick; Folcher, Marc; Bijon, Jacques; Holtes, Lara K; Tsang, Stephen H; Corradi, Zelia; Freund, K Bailey; Shliaga, Stefanida; Panneman, Daan M; Hitti-Malin, Rebekkah J; Ali, Manir; AlTalbishi, Ala'a; Andréasson, Sten; Ansari, Georg; Arno, Gavin; Astuti, Galuh D N; Ayuso, Carmen; Ayyagari, Radha; Banfi, Sandro; Banin, Eyal; Barakat, Tahsin Stefan; Barboni, Mirella T S; Bauwens, Miriam; Ben-Yosef, Tamar; Bernard, Virginie; Birch, David G; Biswas, Pooja; Blanco-Kelly, Fiona; Bocquet, Beatrice; Boon, Camiel J F; Branham, Kari; Bremond-Gignac, Dominique; Britten-Jones, Alexis Ceecee; Bujakowska, Kinga M; Burin des Roziers, Cyril; Cadena, Elizabeth L; Calzetti, Giacomo; Cancellieri, Francesca; Cattaneo, Luca; Chadderton, Naomi; Charbel Issa, Peter; Coutinho-Santos, Luísa; Daiger, Stephen P; De Baere, Elfride; De Bruyne, Marieke; de la Cerda, Berta; De Roach, John N; De Zaeytijd, Julie; Derks, Ronny; Dhaenens, Claire-Marie; Dudakova, Lubica; Duncan, Jacque L; Farrar, G Jane; Feltgen, Nicolas; Fenner, Beau J; Fernández-Caballero, Lidia; Ferraz Sallum, Juliana M; Gana, Simone; Garanto, Alejandro; Gardner, Jessica C; Gilissen, Christian; Gonzàlez-Duarte, Roser; Goto, Kensuke; Griffiths-Jones, Sam; Haack, Tobias B; Haer-Wigman, Lonneke; Hardcastle, Alison J; Hayashi, Takaaki; Héon, Elise; Hoefsloot, Lies H; Hoischen, Alexander; Holtan, Josephine P; Hoyng, Carel B; Ibanez, Manuel Benjamin B 4th; Inglehearn, Chris F; Iwata, Takeshi; Jensson, Brynjar O; Jones, Kaylie; Kalatzis, Vasiliki; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Klaver, Caroline C W; Knézy, Krisztina; Koenekoop, Robert K; Kohl, Susanne; Kominami, Taro; Kühlewein, Laura; Lamey, Tina M; Leibu, Rina; Leroy, Bart P; Liskova, Petra; Lopez, Irma; López-Rodríguez, Victor R de J; Mahieu, Quinten; Mahroo, Omar A; Manes, Gaël; Mansard, Luke; Martín-Gutiérrez, M Pilar; Martins, Nelson; Mauring, Laura; McKibbin, Martin; McLaren, Terri L; Meunier, Isabelle; Michaelides, Michel; Millán, José M; Mizobuchi, Kei; Mukherjee, Rajarshi; Nagy, Zoltán Zsolt; Neveling, Kornelia; Ołdak, Monika; Oorsprong, Michiel; Pan, Yang; Papachristou, Anastasia; Percesepe, Antonio; Pfau, Maximilian; Pierce, Eric A; Place, Emily; Ramesar, Raj; Ramond, Francis; Rasquin, Florence Andrée; Rice, Gillian I; Roberts, Lisa; Rodríguez-Hidalgo, María; Ruiz-Ederra, Javier; Sabir, Ataf H; Sajiki, Ai Fujita; Sánchez-Barbero, Ana Isabel; Sarma, Asodu Sandeep; Sangermano, Riccardo; Santos, Cristina M; Scarpato, Margherita; Scholl, Hendrik P N; Sharon, Dror; Signorini, Sabrina G; Simonelli, Francesca; Sousa, Ana Berta; Stefaniotou, Maria; Stefansson, Kari; Stingl, Katarina; Suga, Akiko; Sulem, Patrick; Sullivan, Lori S; Szabó, Viktória; Szaflik, Jacek P; Taurina, Gita; Thiadens, Alberta A H J; Toomes, Carmel; Tran, Viet H; Tsilimbaris, Miltiadis K; Tsoka, Pavlina; Vaclavik, Veronika; Vajter, Marie; Valeina, Sandra; Valente, Enza Maria; Valentine, Casey; Valero, Rebeca; Valleix, Sophie; van Aerschot, Joseph; van den Born, L Ingeborgh; Van Heetvelde, Mattias; Verhoeven, Virginie J M; Vincent, Andrea L; Webster, Andrew R; Whelan, Laura; Wissinger, Bernd; Yioti, Georgia G; Yoshitake, Kazutoshi; Zenteno, Juan C; Zeuli, Roberta; Zuleger, Theresia; Landau, Chaim; Jacob, Allan I; Lin, Siying; Cremers, Frans P M; Lee, Winston; Ellingford, Jamie M; Stanek, David; Roosing, Susanne; Rivolta, Carlo

Mechanism of beta-arrestin 1 mediated Src activation via Src SH3 domain revealed by cryo-electron microscopy.

冷冻电镜揭示了β-arrestin 1通过Src SH3结构域介导Src激活的机制。

Pakharukova Natalia, Thomas Brittany N, Bansia Harsh, Li Linus, Bassford Dana K, Abzalimov Rinat R, Kim Jihee, Kahsai Alem W, Pani Biswaranjan, Xiao Kunhong, Ochakovski Roni, Liu Shibo, Zhang Xingdong, Ahn Seungkirl, des Georges Amedee, Lefkowitz Robert J

Targeting Conformational Flexibility of a Reactive Intermediate to Enhance Selectivity of a GABA Aminotransferase Inactivator

靶向反应中间体的构象柔性以增强GABA氨基转移酶失活剂的选择性

Kang, Koon Mook; Vargas, Abigail L; Ferreira, Luana Assis; Des Soye, Benjamin James; Corrigan, Mary; Zhang, Cathy Kexin; Wang, Feng; Duan, Dorothy; Kelleher, Neil L; Hohmann, Andrea G; Liu, Dali; Silverman, Richard B

Diverse database and machine learning model to narrow the generalization gap in RNA structure prediction

利用多样化的数据库和机器学习模型来缩小RNA结构预测的泛化差距

de Lajarte, Albéric A; Taillades, Yves J Martin des; Aruda, Justin; Bongrand, Pierre; Wightman, Federico Fuchs; Salazar, Dragui; Allan, Matthew F; Kalicki, Colin; L'Esperance-Kerckhoff, Casper; Kashi, Alex; Jossinet, Fabrice; Rouskin, Silvi

Sym024 Interacts with a Unique Epitope on the CD73 Homodimer, Favoring Effective Bivalent Binding to Improve Anti-PD-1 Therapy.

Sym024 与 CD73 同源二聚体上的独特表位相互作用,有利于有效的二价结合,从而改善抗 PD-1 疗法。

Jakobsen Janus S, Grandal Michael M, Hansen Randi W, Bansia Harsh, Armbruster Emily, Theret Isabelle, Skartved Niels Jørgen Ø, Hald Rikke, Melander Maria C, Worsaae Anne, Riva Matteo, Reckzeh Kristian, Vuillard Laurent, Lantto Johan, des Georges Amedee, Fröhlich Camilla

Early-Onset Retinopathy in Patients With Variants in SLC6A6 Leading to Impaired Taurine Transport

SLC6A6基因变异导致牛磺酸转运受损的患者会出现早发性视网膜病变

Ullah, Mukhtar; Rehman, Atta Ur; Shetty, Madhur; Allen, Michael D; Ullah, Ehsan; Signorini, Sabrina G; des Roziers, Cyril Burin; Grijalva, Rosalie M; Rashid, Abdur; Munir, Asad; Porretta, Alessandra Pia; Valente, Enza Maria; Agather, Aime R; Dimopoulos, Ioannis; Hufnagel, Robert B; Malandain, Edouard; Coursimault, Juliette; Ansar, Muhammad; Antonarakis, Stylianos E; Superti-Furga, Andrea; Jan, Sanaullah; Brooks, Brian P; Calzetti, Giacomo; Guan, Bin; Quinodoz, Mathieu; Henry, L Keith; Rivolta, Carlo

Implementing the design cues of dissociation dynamics and transmetalation in gallium(iii) complexes to promote the anti-proliferative activity of ligands targeting intracellular iron(ii) trafficking

通过在镓(III)配合物中应用解离动力学和金属转移的设计线索,来增强靶向细胞内铁(II)转运的配体的抗增殖活性。

Dharmasivam, Mahendiran; Faiz, Sadia; Kaya, Busra; Wijesinghe, Tharushi P; Suleymanoglu, Mediha; Azad, Mahan Gholam; Richardson, Vera; Zahoor, Ameer Fawad; Kalinowski, Danuta; Lewis, William; Bernhardt, Paul V; Anjum, Rukhsana; Richardson, Des R

Extracellular vesicles carrying surface-anchored adiponectin prevent obesity-related metabolic complications by enhancing insulin sensitivity

携带表面锚定脂联素的细胞外囊泡通过增强胰岛素敏感性来预防肥胖相关的代谢并发症。

Campion, Alicia; Casey, Pat G; Field, Des; Cotter, Paul D; Hill, Colin; Ross, R Paul; Blandin, Alexia; Voisin, Margot; Froger, Josy; Lachat, Maëlle; Hilairet, Grégory; Polak, Katarzyna; Magusto, Julie; Meslier, Lisa; Croyal, Mikaël; Gourdel, Mathilde; Massiquot, Quentin; Chaigneau, Julien; Carpentier, Maxime; Fizanne, Lionel; Prieur, Xavier; Le May, Cédric; Boursier, Jérôme; Cariou, Bertrand; Mamoun, Robert; Trentin, Bernadette; Le Lay, Soazig

A fast fully automated approach for evaluating calcified lesions in intravascular ultrasound

一种快速全自动评估血管内超声钙化病变的方法

Liu, Shengnan; Camarasa, Robin Y R; Neleman, Tara; Ziedses des Plantes, Anniek; Daemen, Joost; de Bruijne, Marleen; van Soest, Gijs

CARDIO4Cities: from global evaluation framework to local monitoring in Dakar and São Paulo

CARDIO4Cities:从全球评估框架到达喀尔和圣保罗的本地监测

Saric, Jasmina; Aerts, Ann; Barboza, Joseph; Boch, Johannes; Muñoz, Daniel Cobos; Junqueira, Thais; Rajkumar, Sarah; Reiker, Theresa; Rosiers, Sarah Des; Secula, Florence; Silveira, Mariana; Socha, Anna; Maggion, Rafael Venijio; Steinmann, Peter