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

Ablation of Htra1 leads to sub-RPE deposits and photoreceptor abnormalities.

Htra1 的消融会导致视网膜色素上皮下沉积物和感光细胞异常

Biswas Pooja, Woodard DaNae R, Hollingsworth T J, Khan Naheed W, Lazaro Danielle R, Berry Anne Marie, Dagar Manisha, Pan Yang, Garland Donita, Shaw Peter X, Oka Chio, Iwata Takeshi, Jablonski Monica M, Ayyagari Radha

The Process of Transformation–The Core of Analytical Psychology and How it Can Be Investigated

转化过程——分析心理学的核心及其研究方法

Biswas, Pooja; Naeem, Muhammad Asif; Ali, Muhammad Hassaan; Assir, Muhammad Zaman; Khan, Shaheen N; Riazuddin, Sheikh; Hejtmancik, J Fielding; Riazuddin, S Amer; Ayyagari, Radha; Roesler, Christian

Single-cell analysis of the epigenome and 3D chromatin architecture in the human retina

人类视网膜表观基因组和三维染色质结构的单细胞分析

Yuan, Ying; Biswas, Pooja; Zemke, Nathan R; Dang, Kelsey; Wu, Yue; D'Antonio, Matteo; Xie, Yang; Yang, Qian; Dong, Keyi; Lau, Pik Ki; Li, Daofeng; Seng, Chad; Bartosik, Weronika; Buchanan, Justin; Lin, Lin; Lancione, Ryan; Wang, Kangli; Lee, Seoyeon; Gibbs, Zane; Ecker, Joseph; Frazer, Kelly; Wang, Ting; Preissl, Sebastian; Wang, Allen; Ayyagari, Radha; Ren, Bing

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa

U4 和 U6 snRNA 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; Barboni, Mirella T S; Bauwens, Miriam; Ben-Yosef, Tamar; Birch, David G; Biswas, Pooja; Blanco-Kelly, Fiona; Bocquet, Beatrice; Boon, Camiel J F; Branham, Kari; Britten-Jones, Alexis Ceecee; Bujakowska, Kinga M; Cadena, Elizabeth L; Calzetti, Giacomo; Cancellieri, Francesca; Cattaneo, Luca; Issa, Peter Charbel; Chadderton, Naomi; Coutinho-Santos, Luísa; Daiger, Stephen P; De Baere, Elfride; 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; Fernández-Caballero, Lidia; Sallum, Juliana M Ferraz; Gana, Simone; Garanto, Alejandro; Gardner, Jessica C; Gilissen, Christian; Goto, Kensuke; Gonzàlez-Duarte, Roser; Griffiths-Jones, Sam; Haack, Tobias B; Haer-Wigman, Lonneke; Hardcastle, Alison J; Hayashi, Takaaki; Héon, Elise; Hoischen, Alexander; Holtan, Josephine P; Hoyng, Carel B; Ibanez, Manuel Benjamin B 4th; Inglehearn, Chris F; Iwata, Takeshi; Jones, Kaylie; Kalatzis, Vasiliki; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Knézy, Krisztina; Klaver, Caroline C W; Koenekoop, Robert K; Kohl, Susanne; Kominami, Taro; Kühlewein, Laura; Lamey, Tina M; Leroy, Bart P; Martín-Gutiérrez, María Pilar; Martins, Nelson; Mauring, Laura; Leibu, Rina; Lin, Siying; Liskova, Petra; Lopez, Irma; López-Rodríguez, Victor R de J; Mahroo, Omar A; Manes, Gaël; 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; Rasquin, Florence Andrée; Rice, Gillian I; Roberts, Lisa; Rodríguez-Hidalgo, María; Ruiz-Eddera, 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 Giovanna; Simonelli, Francesca; Sousa, Ana Berta; Stefaniotou, Maria; Stingl, Katarina; Suga, Akiko; Sullivan, Lori S; Szabó, Viktória; Szaflik, Jacek P; Taurina, Gita; Toomes, Carmel; Tran, Viet H; Tsilimbaris, Miltiadis K; Tsoka, Pavlina; Vaclavik, Veronika; Vajter, Marie; Valeina, Sandra; Valente, Enza Maria; Valentine, Casey; Valero, Rebeca; van Aerschot, Joseph; van den Born, L Ingeborgh; Webster, Andrew R; Whelan, Laura; Wissinger, Bernd; Yioti, Georgia G; Yoshitake, Kazutoshi; Zenteno, Juan C; Zeuli, Roberta; Zuleger, Theresia; Landau, Chaim; Jacob, Allan I; Cremers, Frans P M; Lee, Winston; Ellingford, Jamie M; Stanek, David; Rivolta, Carlo; Roosing, Susanne

A multi-cohort genome-wide association study in African ancestry individuals reveals risk loci for primary open-angle glaucoma.

一项针对非洲裔人群的多队列全基因组关联研究揭示了原发性开角型青光眼的风险位点

Verma Shefali S, Gudiseva Harini V, Chavali Venkata R M, Salowe Rebecca J, Bradford Yuki, Guare Lindsay, Lucas Anastasia, Collins David W, Vrathasha Vrathasha, Nair Rohini M, Rathi Sonika, Zhao Bingxin, He Jie, Lee Roy, Zenebe-Gete Selam, Bowman Anita S, McHugh Caitlin P, Zody Michael C, Pistilli Maxwell, Khachatryan Naira, Daniel Ebenezer, Murphy Windell, Henderer Jeffrey, Kinzy Tyler G, Iyengar Sudha K, Peachey Neal S, Taylor Kent D, Guo Xiuqing, Chen Yii-Der Ida, Zangwill Linda, Girkin Christopher, Ayyagari Radha, Liebmann Jeffrey, Chuka-Okosa Chimd M, Williams Susan E, Akafo Stephen, Budenz Donald L, Olawoye Olusola O, Ramsay Michele, Ashaye Adeyinka, Akpa Onoja M, Aung Tin, Wiggs Janey L, Ross Ahmara G, Cui Qi N, Addis Victoria, Lehman Amanda, Miller-Ellis Eydie, Sankar Prithvi S, Williams Scott M, Ying Gui-Shuang, Cooke Bailey Jessica, Rotter Jerome I, Weinreb Robert, Khor Chiea Chuen, Hauser Michael A, Ritchie Marylyn D, O'Brien Joan M

Current and Future Directions in Developing Effective Treatments for PRPH2-Associated Retinal Diseases: A Workshop Report

PRPH2相关视网膜疾病有效治疗方法研发的现状与未来方向:研讨会报告

Ayyagari, Radha; Borooah, Shyamanga; Durham, Todd; Gelfman, Claire; Bowman, Angela

Reticular Pseudodrusen in Late-Onset Retinal Degeneration

晚发性视网膜变性中的网状假性玻璃膜疣

Borooah, Shyamanga; Papastavrou, Vasileios; Lando, Leonardo; Han, Jonathan; Lin, Jonathan H; Ayyagari, Radha; Dhillon, Baljean; Browning, Andrew C

Investigation of associations between Piezo1 mechanoreceptor gain-of-function variants and glaucoma-related phenotypes in humans and mice

研究Piezo1机械感受器功能获得性变异与人类和小鼠青光眼相关表型之间的关联

Baxter, Sally L; Keenan, William T; Athanas, Argus J; Proudfoot, James A; Zangwill, Linda M; Ayyagari, Radha; Liebmann, Jeffrey M; Girkin, Christopher A; Patapoutian, Ardem; Weinreb, Robert N

Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families

CERKL 和 RP1 基因突变导致巴基斯坦家族患上视网膜色素变性

Nadeem, Raheela; Kabir, Firoz; Li, Jiali; Gradstein, Libe; Jiao, Xiaodong; Rauf, Bushra; Naeem, Muhammad Asif; Assir, Muhammad Zaman; Riazuddin, Sheikh; Ayyagari, Radha; Hejtmancik, J Fielding; Riazuddin, S Amer