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

Skin-derived myeloid precursors and joint-resident fibroblasts spread psoriatic disease from skin to joints

皮肤来源的髓系前体细胞和关节驻留成纤维细胞将银屑病从皮肤扩散到关节。

Raimondo, Maria G; Mohammadian, Hashem; Angeli, Mario R; Alivernini, Stefano; Fedorchenko, Vladyslav; Huang, Kaiyue; Demmler, Richard; Rhein, Peter; Xu, Cong; Li, Yi-Nan; Micheroli, Raphael; Winter, Zoltán; Rigau, Aleix Rius; Anchang, Charles G; Soare, Alina; Luber, Markus; Labinsky, Hannah; Chang, Jiyang; Günther, Claudia; Fearon, Ursula; Veale, Douglas J; Ciccia, Francesco; Rech, Jürgen; Sticherling, Michael; Bäuerle, Tobias; Distler, Jörg H W; Kurowska-Stolarska, Mariola S; Mack, Matthias; Ekici, Arif B; Croft, Adam P; Distler, Oliver; Maric, Hans M; Ospelt, Caroline; Cañete, Juan D; D'Agostino, Maria A; Schett, Georg; Rauber, Simon; Ramming, Andreas

Turbulent dynamo in the terrestrial magnetosheath

地球磁鞘中的湍流发电机

Vörös, Zoltán; Roberts, Owen Wyn; Narita, Yasuhito; Yordanova, Emiliya; Nakamura, Rumi; Settino, Adriana; Schmid, Daniel; Volwerk, Martin; Simon Wedlund, Cyril L; Varsani, Ali; Sorriso-Valvo, Luca; Bourdin, Philippe André; Kis, Árpád

Normative growth trajectories of fetal brain regions validated by satisfactory maturation of neurodevelopmental domains at 2 years of age

胎儿脑区正常生长轨迹通过2岁时神经发育领域的令人满意的成熟度得到验证

Wyburd, Madeleine K; Kennedy, Stephen H; Fernandes, Michelle; Dinsdale, Nicola K; Hesse, Linde S; Gunier, Robert B; Cheikh Ismail, Leila; Ohuma, Eric O; Gravett, Michael G; Purwar, Manorama; Qingqing, Wu; Winsey, Adele; Bertino, Enrico; Jaffer, Yasmin; Carvalho, Maria; Barros, Fernando C; Stein, Alan; Noble, Alison J; Molnár, Zoltán; Jenkinson, Mark; Nichols, Thomas E; Smith, Stephen; Bhutta, Zulfiqar A; Papageorghiou, Aris T; Villar, Jose; Namburete, Ana I L

LiMA: Robust inference of molecular mediation from summary statistics

LiMA:基于汇总统计数据对分子介导作用进行稳健推断

Lepik, Kaido; Auwerx, Chiara; Sadler, Marie C; van der Graaf, Adriaan; Ojavee, Sven Erik; Kutalik, Zoltán

Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, cause a late-onset retinal dystrophy

SAXO6基因的功能缺失变异会导致迟发性视网膜营养不良,该基因编码光感受器纤毛的微管内层蛋白。

Moye, Abigail R; McCafferty, Caitlyn L; Lin, Siying; Han, Ji Hoon; Dudakova, Lubica; Rodenburg, Kim; Szabó, Viktória; Nagy, Zoltán Zsolt; Zur, Dinah; Vajter, Marie; Kousal, Bohdan; Moulin, Alexandre P; Graff-Meyer, Alexandra; Roosing, Susanne; Mahroo, Omar A; Arno, Gavin; Webster, Andrew R; Ben-Yosef, Tamar; Liskova, Petra; Engel, Benjamin D; Zobor, Ditta; Quinodoz, Mathieu; Rivolta, Carlo

Inflammatory mechanisms contribute to long-term cognitive deficits induced by perinatal asphyxia via interleukin-1

炎症机制通过白细胞介素-1导致围产期窒息引起的长期认知缺陷。

Kelemen, Hanga; Balla, Gyula Y; Demeter, Kornél; Sipos, Eszter; Buzás-Kaizler, András; Biró, László; Aliczki, Manó; Orsolits, Barbara; Kerényi, Áron; Balogh, Zoltán; Pászthy-Szabó, Benedek; Pejtsik, Diána; Hegyi, Lajos; Szigeti, Krisztián; Máthé, Domokos; Padmanabhan, Parasuraman; Bödör, Csaba; Fekete, Andrea; Szabó, Miklós; Kaila, Kai; Dénes, Ádám; Mikics, Éva

Pre-trauma cognitive traits predict fear generalization and associated prefrontal functioning in a longitudinal rodent model

创伤前认知特征可预测纵向啮齿动物模型中的恐惧泛化和相关前额叶功能

Szente, László; Aliczki, Manó; Balla, Gyula Y; Maróthy, Róbert D; Varga, Zoltán K; Varga, Bendegúz Á; Borhegyi, Zsolt; Biró, László; Demeter, Kornél; Miskolczi, Christina; Balogh, Zoltán; Szebik, Huba; Szilvásy-Szabó, Anett; Kurilla, Anita; Tóth, Máté; Mikics, Éva

Development of Mild Palladium-Catalyzed N-Arylation of Ortho-Acylanilines in Rhamnolipid Micellar System

在鼠李糖脂胶束体系中开发温和钯催化邻位酰基苯胺的N-芳基化反应

Herczegh, Attila R; Kollár, Péter R; Lehmann, Johannes; Novák, Zoltán

Possible role of pre-vaccination T-lymphocyte subpopulations in the antibody response to COVID-19 vaccines in children undergoing chemotherapy

接种疫苗前T淋巴细胞亚群在接受化疗的儿童对COVID-19疫苗的抗体反应中可能发挥的作用

Péterfia, Csaba; Komlósi, Zsolt I; Pós, Zoltán; Lupsa, Nikolett; Fekete, Nóra; Böröcz, Katalin; Dergez, Timea; Leibinger, Evelin A; Benedek, Noémi; Vojcek, Ágnes; Horváth, Bence; Vertike, Vita; Csanádi, Krisztina; Hauser, Péter; Tiszlavicz, Lilla Györgyi; Erdélyi, Dániel János; Brückner, Edit Ágota; Szabó, Sándor; Beniczky, Nikolett Jusztina; Berki, Timea; Ottóffy, Gábor