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

Large-scale analysis of bacterial genomes reveals thousands of lytic phages

大规模细菌基因组分析揭示了数千种裂解性噬菌体

Perfilyev, Alexander; Gæde, Anastasiya; Hooton, Steve; Zahran, Sara A; Kalatzis, Panos G; Winther-Have, Caroline Sophie; Ibarra Chavez, Rodrigo; Wilkinson, Rachael C; Thanki, Anisha M; Liu, Zhengjie; Zhang, Qing; Lv, Qianghua; Liu, Yuqing; Gigante, Adriano M; Atterbury, Robert J; Petersen, Bent; Millard, Andrew D; Clokie, Martha R J; Sicheritz-Pontén, Thomas

Development of Advanced Nanobiosensors and a Portable Monitoring System for Pesticide Detection at the Point of Need

开发先进的纳米生物传感器和便携式监测系统,用于在需要时检测农药

Skotadis, Evangelos; Tsigkourakos, Menelaos; Anthoulakis, Emmanouil; Filippidou, Myrto-Kyriaki; Ntouskas, Sotirios; Kainourgiaki, Maria; Tsioustas, Charalampos; Panagopoulou, Chrysi; Dimou-Sakellariou, Stergios; Kalatzis, Nikos; Petrakis, Eleftherios A; Alexis, Nikolaos; Tsekenis, George; Tserepi, Angeliki; Chatzandroulis, Stavros; Tsoukalas, Dimitris

Modulation of Aerobic Glycolysis Genes During the Progression of Retinitis Pigmentosa

视网膜色素变性进展过程中有氧糖酵解基因的调控

Adani, Elisa; Villa Vasquez, Suly Saray; Lovino, Marta; Bighinati, Andrea; Cappellino, Luisina; D'Alessandro, Sara; Kalatzis, Vasiliki; Marigo, Valeria

Bacteriophages as Food Biocontrol Agents: A One Health Framework for Manufacturing Quality, Regulatory Governance, and Ethical Stewardship-A Narrative Review

噬菌体作为食品生物防治剂:面向生产质量、监管治理和伦理管理的“同一健康”框架——叙述性综述

Fokas, Rafail; Kalatzis, Panos G; Vantarakis, Apostolos

Development of an Explainable Machine Learning Computational Model for the Prediction of Severe Complications After Orchiectomy in Stallions

开发一种可解释的机器学习计算模型,用于预测种公马睾丸切除术后的严重并发症

Tyrnenopoulou, Panagiota; Kalatzis, Dimitris; Kiouvrekis, Yiannis; Flouraki, Eugenia; Folias, Leonidas; Loukopoulos, Epameinondas; Starras, Alexandros; Chalvatzis, Panagiotis; Tsioli, Vassiliki; Mavrogianni, Vasia S; Fthenakis, George C

Prophage-encoded chitinase gene supports growth of its bacterial host isolated from deep-sea sediments

噬菌体前体编码的几丁质酶基因支持从深海沉积物中分离出的宿主细菌的生长。

Middelboe, Mathias; Traving, Sachia J; Castillo, Daniel; Kalatzis, Panos G; Glud, Ronnie N

RetiGene, a comprehensive gene atlas for inherited retinal diseases

RetiGene,一个全面的遗传性视网膜疾病基因图谱

Rivolta, Carlo; Celik, Elifnaz; Kamdar, Dhryata; Cancellieri, Francesca; Kaminska, Karolina; Ullah, Mukhtar; Barberán-Martínez, Pilar; Bouckaert, Manon; Cortón, Marta; Delanote, Emma; Fernández-Caballero, Lidia; García García, Gema; Holtes, Lara K; Karali, Marianthi; Lopez, Irma; Peter, Virginie G; Schneider, Nina; Vincke, Lieselot; Ayuso, Carmen; Banfi, Sandro; Bocquet, Beatrice; Coppieters, Frauke; Cremers, Frans P M; Inglehearn, Chris F; Iwata, Takeshi; Kalatzis, Vasiliki; Koenekoop, Robert K; Millán, José M; Sharon, Dror; Toomes, Carmel; Quinodoz, Mathieu

Erratum: Genome Editing in Patient iPSCs Corrects the Most Prevalent USH2A Mutations and Reveals Intriguing Mutant mRNA Expression Profiles

更正:对患者iPSC进行基因组编辑可纠正最常见的USH2A突变,并揭示有趣的突变mRNA表达谱

Sanjurjo-Soriano, Carla; Erkilic, Nejla; Baux, David; Mamaeva, Daria; Hamel, Christian P; Meunier, Isabelle; Roux, Anne-Françoise; Kalatzis, Vasiliki

Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa

利用纳米孔长读长测序技术解析X连锁视网膜色素变性患者的RPGR ORF15基因型

Vaché, Christel; Faugère, Valérie; Baux, David; Mansard, Luke; Van Goethem, Charles; Dhaenens, Claire-Marie; Grunewald, Olivier; Audo, Isabelle; Zeitz, Christina; Meunier, Isabelle; Bocquet, Béatrice; Cossée, Mireille; Bergougnoux, Anne; Kalatzis, Vasiliki; Roux, Anne-Françoise