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

Arresting Microphase Separation Encodes Material Mechanics by Sculpting Microarchitectures and Local Polymer Enrichment

通过塑造微结构和局部聚合物富集来抑制微相分离,从而编码材料力学性能

Johnbosco, Castro; Dalenoord, Floris; Hiemstra, Jarno; Na, Yu; Wolfel, Alexis; Bosmans, Cécile; Gering, Christine; Willemen, Niels; Shin, Su Ryon; Leijten, Jeroen

Rapid Glass-Substrate Digital Light 3D Printing Enables Anatomically Accurate Stroke Patient-Specific Carotid Artery-on-Chips for Personalized Thrombosis Investigation

快速玻璃基板数字光3D打印技术可实现解剖结构精确的中风患者特异性颈动脉芯片,用于个性化血栓研究。

Zhao, Yunduo Charles; Wang, Zihao; Nasser, Arian; Sun, Allan; Wang, Zhao; Zhang, Yingqi; Ren, Jianfang; Zhao, Haimei; Yap, Nicole Alexis; Wang, Yinyan; Li, Zhiyong; Butcher, Ken S; Passam, Freda; Ang, Timothy; Ju, Lining Arnold

Commensal-myeloid crosstalk in neonatal skin regulates interleukin-1 signaling and cutaneous type 17 inflammation.

新生儿皮肤中的共生细胞-髓系细胞相互作用调节白细胞介素-1信号传导和皮肤17型炎症。

Dhariwala Miqdad O, Carale Ricardo O, DeRogatis Andrea M, Rodriguez-Valbuena Henry, Okoro Joy N, Ekstrand Christina A, Weckel Antonin, Tran Victoria M, Habrylo Irek, Barrere-Cain Rio, Ojewumi Oluwasunmisola T, Tammen Allison E, Tsui Jessica, Shaikh Saba, Yellamilli Shivaram, Aladhami Ahmed K, Schwartz Robin, Leech John M, Merana Geil R, Hiam-Galvez Kamir J, Mack Matthias, Halkias Joanna, Gardner James M, Rutishauser Rachel L, Fragiadakis Gabriela K, Spitzer Matthew H, Combes Alexis J, Scharschmidt Tiffany C

MafB is a conserved transcriptional regulator of macrophage development and functional identity across tissues and species.

MafB 是巨噬细胞发育和功能特性在不同组织和物种中保守的转录调节因子。

Vanneste Domien, Peng Wen, Liu Zhuangzhuang, Hamaïdia Malik, La Rocca Raphaël, Abinet Joan, Balthazar Alexis, Perin Fabienne, Hego Alexandre, Cataldo Didier, Bureau Fabrice, Compère Philippe, Machiels Bénédicte, Scott Charlotte L, Radermecker Coraline, Marichal Thomas

Uncovering the genomic complexity of PAX5 intragenic tandem multiplication via long-read and short-read sequencing

利用长读长和短读长测序揭示PAX5基因内串联重复的基因组复杂性

Liu, Yanling; Ju, Bensheng; Dong, Li; Loyd, Melanie; Brady, Samuel W; Ries, Rhonda; Feng, Yuan; Mulder, Heather; Plyler, Emily; Deardorff, Christian; McBride, Andrea; Jones, Tyler; Eckert, Alexis; Kolekar, Pandurang; Fan, Li; Li, Hanxia; Briviba, Monta; Zhao, Huanbin; Bennett, Declan; Neale, Geoff; Chang, Ti-Cheng; Chen, Wenan; Pounds, Stanley; Wu, Gang; Mullighan, Charles; Geeleher, Paul; Ji, Lingyun; Yang, Jun J; Meshinchi, Soheil; Brown, Patrick A; Carroll, William L; Zhang, Jinghui; Loh, Mignon L; Easton, John; Ma, Xiaotu

Distinct sympathetic projections to brown fat regulate thermogenesis and glucose tolerance.

交感神经向棕色脂肪组织投射,调节产热和葡萄糖耐受性。

Neri Daniele, Lee Seoeun, Fohn Alexis M, Chen Xinhong, Bozec Dominique, Lafond Alexandre J, Lopatinsky Natalie R, Castro E Souza Lucas, Nair Gawri Mohanan, Ramos-Lobo Angela M, Heine Markus, Worthmann Anna, Heeren Joerg, Thaker Vidhu V, Gradinaru Viviana, Zeltser Lori M

The Histone Methyltransferase KMT2D Is a Critical Mediator of Lineage Plasticity and Therapeutic Response in Castration-Resistant Prostate Cancer.

组蛋白甲基转移酶 KMT2D 是去势抵抗性前列腺癌谱系可塑性和治疗反应的关键介质。

Kittane Srushti, Ladewig Erik, Li Taibo, Love Jillian R, Blawski Ryan, Gao Yangzhenyu, Arruabarrena-Aristorena Amaia, Zhao Peihua, Dalrymple Susan L, Liu Huayang, Guo Xinyu, Sallaku Mirna, Kelkar Nachiket, Garcia-Martinez Liliana, Carmona Sanz Javier, Chen Wanlu, Stoudmann Candice, Baldino Laura, Razavi-Mohseni Milad, Kalemi Ingrid, Beer Michael A, Castel Pau, Brennen W Nathaniel, Scaltriti Maurizio, Morey Lluis, Cocco Emiliano, Ji Hongkai, Chan Ho Man, Battle Alexis, Leslie Christina S, Karthaus Wouter R, Toska Eneda

Beyond the baseline: mapping the context-specific regulatory landscape of disease

超越基线:绘制疾病特定背景下的监管格局

Gilad, Yoav; Battle, Alexis

Functional Genomics Link REST to Endothelial Plasticity and Atherosclerosis

功能基因组学将REST与内皮可塑性和动脉粥样硬化联系起来

Viskadourou, Maria; Chaudhry, Sharjeel; Scalco, Arianna; Reventun, Paula; Toledano-Sanz, Pablo; An, Roujin; Alcharani, Nunzio; Delgado Marin, Maria; Fennell, Abigail; Zhao, Quanyi; Osburn, William; McCallion, Andrew S; Quertermous, Thomas; Battle, Alexis; Lowenstein, Charles J; Arvanitis, Marios