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

A synergistic interaction between PRMT5 and LSD1 inhibitors in AML.

PRMT5 和 LSD1 抑制剂在急性髓系白血病中存在协同作用。

Param Nesteene Joy, Arceci Elisa, Fiorentino Francesco, Pignata Luca, Torre Denis, Gutiérrez-Trejo Nayeli, Fong Jia Yi, Goy Pierre-Alexis, Han Brenda Y, Lambona Chiara, Di Bello Elisabetta, Castiello Carola, Barone Marco, Schwarz Megan, Arrowsmith Cheryl, Ito Koichi, Scherle Peggy, Wee Dave Keng Boon, Ndoye Steven, Tabaglio Tommaso, Jeyasekharan Anand D, Lakshmanan Manikandan, Cirilli Roberto, Habisch Hansjörg, Madl Tobias, Mattevi Andrea, Valente Sergio, Mai Antonello, Guccione Ernesto

TRKB-based signature identifies high-risk squamous cell carcinoma cases and TRKB blockade reprograms tumor and stromal cells toward suppressive phenotypes

基于TRKB的特征谱可以识别高风险鳞状细胞癌病例,而TRKB阻断可以将肿瘤细胞和基质细胞重编程为抑制性表型。

Bartolocci, Valeria; Capone, Alessio; Monetta, Rosanna; Di Meo, Erika; Arcano, Silvia; Valente, Carola; Campagna, Denise; Teson, Massimo; Mancini, Mara; Di Lella, Giovanni; Abeni, Damiano; Fania, Luca; Ricci, Francesca; Gomes, Vito; Scaglione, Giovanni Luca; Mastroeni, Simona; Candi, Eleonora; Dellambra, Elena

Multimodal multicentre investigation of diagnostic and prognostic markers in disorders of consciousness

意识障碍诊断和预后标志物的多模式多中心研究

Manasova, Dragana; Belloli, Laouen Mayal Louan; Rosenfelder, Martin Justinus; Willacker, Lina; Fló Rama, Emilia; Valota, Chiara; Hermann, Bertrand; Kaufmann, Brigitte Charlotte; Pirastru, Alice; Derchi, Chiara Camilla; Raiser, Theresa; Valente, Melanie; Sangare, Aude; Türker, Başak; Pyatigorskaya, Nadya; Béranger, Benoît; Colombo, Michele; Munoz-Musat, Esteban; Escrichs, Anira; Atzori, Tiziana; Baglio, Francesca; Lapa, Constantin; Berlis, Ansgar; Krüger, Kristina; Luther, Tina; Perlbarg, Vincent; Deco, Gustavo; Sanz-Perl, Yonathan; Tagliazucchi, Enzo; Puybasset, Louis; Rohaut, Benjamin; Naccache, Lionel; Comanducci, Angela; Arzi, Anat; Rosanova, Mario; Bender, Andreas; Sitt, Jacobo Diego

Transposable element-gene chimera cartography, origination and role in enhancing transcriptome plasticity

转座元件-基因嵌合体图谱、起源及其在增强转录组可塑性中的作用

Cheon, Youngseo; Alvstad, Erik Glen; Torre, Denis; Quach, Daniel Tu; Nguyen, Jennifer; Hyun, Kwangbeom; Zhou, Mingqi; Yu, Tianxiong; Liu, Liang; Yoon, Yoseop; Reese, Fairlie; Faraone, Lauren; Li, Yingcong; Arnold, Frederick J; Fstkchyan, Yesai S; Basu, Uttiya; Kvon, Evgeny; Valente, Enza Maria; Ho, Jessica Sook Yuin; Byun, Minji; Guccione, Ernesto; Shi, Yongsheng; Weng, Zhiping; Seldin, Marcus; Marazzi, Ivan

Dynamic epigenetic regulation of BCLAF1 splicing in acute myeloid leukemia

急性髓系白血病中BCLAF1剪接的动态表观遗传调控

Sgueglia, Giulia; Massaro, Crescenzo; Muro, Annamaria; Lettiero, Ida; D'Agostino, Erika; Favale, Gregorio; Simonelli, Nicla; Del Gaudio, Nunzio; Carafa, Vincenzo; De Marchi, Tommaso; Rotili, Dante; Valente, Sergio; Mai, Antonello; Sbardella, Gianluca; De Simone, Mariacarla; Altucci, Lucia; Dell'Aversana, Carmela

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

Leveraging probabilistic forecasts for dengue preparedness and control: The 2024 Dengue Forecasting Sprint in Brazil

利用概率预测进行登革热防控:2024年巴西登革热预测冲刺计划

Araujo, Eduardo Correa; Carvalho, Luiz Max; Ganem, Fabiana; Vacaro, Luã Bida; Bastos, Leonardo S; Freitas, Laís Picinini; de Almeida, Iasmim Ferreira; Bastos, Marcio; Alencar, Ramila; Bianchi, Lucas; Capellán, Raúl; Chen, Xiang; Cruz, Oswaldo; Cunha, Americo Jr; Das, Haridas K; Fletcher, Chloe; Lana, Raquel Martins; Lowe, Rachel; Lührsen, Daniela; Moirano, Giovenale; Moraga, Paula; Stolerman, Lucas M; Valente, Fernanda; Codeço, Cláudia Torres; Coelho, Flávio C

KLF2 overrides the resident memory CD8 T cell differentiation program, in opposition to KLF3

与 KLF3 相反,KLF2 会抑制驻留记忆 CD8 T 细胞的分化程序。

DePauw, Taylor A; Gai, Kexin; Shen, Jian; Maurice, Nicholas J; Rhee, Ka Hyun; Valente, William J; O'Connor, Christine H; Cui, Weiguo; Peng, Changwei; Jameson, Stephen C

High-density lipoprotein cholesterol levels and their impact on outcomes in acute ischemic stroke patients treated with mechanical thrombectomy

高密度脂蛋白胆固醇水平及其对接受机械取栓治疗的急性缺血性卒中患者预后的影响

D'Anna, Lucio; Foschi, Matteo; Valente, Mariarosaria; Sacco, Simona; Del Regno, Caterina; De Negri, Ilaria; Toraldo, Francesco; Mare, Alessandro; Sponza, Massimo; Gavrilovic, Vladimir; Lobotesis, Kyriakos; Pirera, Edoardo; Gigli, Gian Luigi; Banerjee, Soma; Merlino, Giovanni