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

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

Bi-allelic variants in FSD1L cause retinitis pigmentosa with or without neurological involvement

FSD1L基因的双等位基因变异会导致视网膜色素变性,伴或不伴神经系统受累。

Lin, Siying; Cancellieri, Francesca; Cao, Yexuan; Lotery, Andrew J; Moye, Abigail R; Vaclavik, Veronika; Perren, Fabienne; Poplawski, Andrzej B; Schiff, Elena R; Ullah, Mukhtar; Iglesias-Romero, Ana Belen; Kaminska, Karolina; Jestin, Aleksandr; Folcher, Marc; Wallerich, Sandrine; Ribeiro, Mariana M; Hahaut, Vincent; Picelli, Simone; Mustafi, Debarshi; Tworak, Aleksander; Smidak, Roman; Li, Yumei; Lu, Jiaxiong; Wang, Meng; Mahroo, Omar A; Borooah, Shyamanga; Quinodoz, Mathieu; Palczewski, Krzysztof; Webster, Andrew R; Rivolta, Carlo; Chen, Rui; Arno, Gavin

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

Downregulation of Cyclin Kinase Inhibitors p16INK4a and p27 in Conjunctival Melanomas

结膜黑色素瘤中细胞周期蛋白激酶抑制剂 p16INK4a 和 p27 的表达下调

Sarrasin, Emerentienne; Lalys, Elea; Nardou, Katya; Celik, Elifnaz; Quinodoz, Mathieu; Schalenbourg, Ann; Riggi, Nicolo; Rivolta, Carlo; Berger, Adeline; Moulin, Alexandre

Mapping and engineering RNA-driven architecture of the multiphase nucleolus

绘制和构建RNA驱动的多相核仁结构

Sofia A Quinodoz # ,Lifei Jiang # ,Aya A Abu-Alfa ,Troy J Comi ,Hongbo Zhao ,Qiwei Yu ,Lennard W Wiesner ,Jordy F Botello ,Anita Donlic ,Elizabeth Soehalim ,Prashant Bhat ,Christiane Zorbas ,Ludivine Wacheul ,Andrej Košmrlj ,Denis L J Lafontaine ,Sebastian Klinge ,Clifford P Brangwynne

High-efficiency base editing in the retina in primates and human tissues

灵长类动物和人类视网膜组织中的高效碱基编辑

Muller, Alissa; Sullivan, Jack; Schwarzer, Wibke; Wang, Mantian; Park-Windhol, Cindy; Hasler, Pascal W; Janeschitz-Kriegl, Lucas; Duman, Mert; Klingler, Beryll; Matsell, Jane; Hostettler, Simon Manuel; Galliker, Patricia; Hou, Yanyan; Balmer, Pierre; Virág, Tamás; Barrera, Luis Alberto; Young, Lauren; Xu, Quan; Magda, Dániel Péter; Kilin, Ferenc; Khadka, Arogya; Moreau, Pierre-Henri; Fellmann, Lyne; Azoulay, Thierry; Quinodoz, Mathieu; Karademir, Duygu; Leppert, Juna; Fratzl, Alex; Kosche, Georg; Sharma, Ruchi; Montford, Jair; Cattaneo, Marco; Croyal, Mikaël; Cronin, Therese; Picelli, Simone; Grison, Alice; Cowan, Cameron S; Kusnyerik, Ákos; Anders, Philipp; Renner, Magdalena; Nagy, Zoltán Zsolt; Szabó, Arnold; Bharti, Kapil; Rivolta, Carlo; Scholl, Hendrik P N; Bryson, David; Ciaramella, Giuseppe; Roska, Botond; György, Bence

De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorder

LRRC8C基因的新生突变导致通道持续激活,从而引发人类多系统疾病。

Mathieu Quinodoz # ,Sonja Rutz # ,Virginie Peter # ,Livia Garavelli # ,A Micheil Innes # ,Elena F Lehmann ,Stephan Kellenberger ,Zhong Peng ,Angelica Barone ,Belinda Campos-Xavier ,Sheila Unger ,Carlo Rivolta ,Raimund Dutzler ,Andrea Superti-Furga

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

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