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

The Genetic Landscape of Inherited Retinal Diseases in the Israeli Population

以色列人群遗传性视网膜疾病的遗传图谱

Shalom, Sapir; Gradstein, Libe; Pras, Eran; Valensi, Johanna; Birk, Ohad S; Blumenfeld, Anat; Eilat, Avital; Macarov, Michal; Poleg, Tomer; Cremers, Frans P M; Roosing, Susanne; Panneman, Daan M; Hollander, Nadin; Goldenberg-Cohen, Nitza; Yahalom, Claudia; Banin, Eyal; Ben-Yosef, Tamar; Sharon, Dror

Long-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in TCOF1 causing Treacher Collins syndrome

长读长DNA和RNA测序揭示了TCOF1基因内含子中插入逆转录转座子是导致特雷彻·柯林斯综合征的原因。

Ferraro, Federico; Kühn, Nikolas; Rots, Dmitrijs; van der Linde, Herma C; Mohseni, Banin; van Unen, Leontine; Drost, Mark; Nellist, Mark; Koekkoek, Marieke; Schot, Rachel; de Gier, Henriette W; Pleumeekers, Mieke; Barakat, Tahsin Stefan; Kleefstra, Tjitske; Weerts, Marjolein; van Dooren, Marieke F; van Ham, Tjakko J

Nanoengineered γ MnO(2) Accelerates the Degradation of Antibiotic-Resistant Biofilms

纳米工程γ-MnO(2)加速抗生素耐药生物膜的降解

Maruthapandi, Moorthy; Durairaj, Arulappan; Jacobi, Gila; Shoshani, Sivan; Banin, Ehud; Luong, John H T; Gedanken, Aharon

Collective Interactions of Quantum-Confined Excitons in Halide Perovskite Nanocrystal Superlattices

卤化物钙钛矿纳米晶超晶格中量子限制激子的集体相互作用

Levy, Shai; Be'er, Orr; Shaek, Saar; Gorlach, Alexey; Scharf, Einav; Ossia, Yonatan; Liran, Rotem; Cohen, Kobi; Strassberg, Rotem; Kaminer, Ido; Banin, Uri; Bekenstein, Yehonadav

Photocatalytic Semiconductor-Metal Hybrid Nanoparticles: Single-Atom Catalyst Regime Surpasses Metal Tips

光催化半导体-金属混合纳米粒子:单原子催化剂机制超越金属尖端

Gigi, Shira; Cohen, Tal; Florio, Diego; Levi, Adar; Stone, David; Katoa, Ofer; Li, Junying; Liu, Jing; Remennik, Sergei; Camargo, Franco V A; Cerullo, Giulio; Frenkel, Anatoly I; Banin, Uri

Shell Phase and Morphology Control for Emission Tuning in III-V Core/Shell Quantum Dots

III-V族核/壳量子点中壳层相和形貌控制对发射调控的作用

Li, Xiang; Scharf, Einav; Levi, Adar; Deree, Yinon; Stone, David; Remennik, Sergei; Banin, Uri

Founder Homozygous Nonsense CREB3 Variant and Variable-Onset Retinal Degeneration

CREB3基因纯合无义突变创始人与发病时间不一的视网膜变性

Salameh, Manar; Abu Tair, Ghadeer; Mousa, Samira; Obolensky, Alexey; Swaroop, Anand; Roosing, Susanne; Mezer, Eedy; Soudry, Shiri; Karali, Marianthi; Simonelli, Francesca; Banfi, Sandro; Banin, Eyal; Ben-Yosef, Tamar; Sharon, Dror; Khateb, Samer

SadB, a mediator of AmrZ proteolysis and biofilm development in Pseudomonas aeruginosa

SadB是铜绿假单胞菌中AmrZ蛋白水解和生物膜形成的介质

Ben-David, Yossi; Sporny, Michael; Brochin, Yigal; Piscon, Bar; Roth, Shira; Zander, Itzhak; Nisani, Michal; Shoshani, Sivan; Yaron, Orly; Karako-Lampert, Sarit; Lebenthal-Loinger, Ilana; Danielli, Amos; Opatowsky, Yarden; Banin, Ehud

Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy

编码囊泡AP-5复合物不同亚基的三个基因的双等位基因变异会导致遗传性黄斑营养不良。

Karolina Kaminska,Francesca Cancellieri,Mathieu Quinodoz,Abigail R Moye,Miriam Bauwens,Siying Lin,Lucas Janeschitz-Kriegl,Tamar Hayman,Pilar Barberán-Martínez,Regina Schlaeger,Filip Van den Broeck,Almudena Ávila Fernández,Lidia Fernández-Caballero,Irene Perea-Romero,Gema García-García,David Salom,Pascale Mazzola,Theresia Zuleger,Karin Poths,Tobias B Haack,Julie Jacob,Sascha Vermeer,Frédérique Terbeek,Nicolas Feltgen,Alexandre P Moulin,Louisa Koutroumanou,George Papadakis,Andrew C Browning,Savita Madhusudhan,Lotta Gränse,Eyal Banin,Ana Berta Sousa,Luisa Coutinho Santos,Laura Kuehlewein,Pietro De Angeli,Bart P Leroy,Omar A Mahroo,Fay Sedgwick,James Eden,Maximilian Pfau,Sten Andréasson,Hendrik P N Scholl,Carmen Ayuso,José M Millán,Dror Sharon,Miltiadis K Tsilimbaris,Veronika Vaclavik,Hoai V Tran,Tamar Ben-Yosef,Elfride De Baere,Andrew R Webster,Gavin Arno,Panagiotis I Sergouniotis,Susanne Kohl,Cristina Santos,Carlo Rivolta