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

Low population penetrance of variants associated with inherited retinal degenerations

与遗传性视网膜变性相关的变异在人群中的外显率较低

Zaslavsky, Kirill; Chen, Liyin; Park, Chloe; Place, Emily M; Navarro-Gomez, Daniel; Zekavat, Seyedeh M; Barile, Christopher F; Bujakowska, Kinga M; Rossin, Elizabeth J; Pierce, Eric A

Biallelic null variants in C19orf44 cause a unique late-onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophy.

C19orf44 中的双等位基因无效变异会导致一种独特的迟发性视网膜营养不良表型,其特征是斑片状中心凹周围脉络膜视网膜萎缩

Ehrenberg Miriam, Avraham Maayan, Asodu Sandeep Sarma, Moye Abigail R, Sangermano Riccardo, Rizel Leah, Ali-Nasser Tahleel, Sher Ifat, Gurwitz David, Chao Katherine R, Rivera Antonio, Webster Andrew R, Rivolta Carlo, Newman Hadas, Pras Eran, Rotenstreich Ygal, Banin Eyal, Pierce Eric A, Zur Dinah, Arno Gavin, Bujakowska Kinga M, Lin Siying, Sharon Dror, Ben-Yosef Tamar

The RNA content of extracellular vesicles from gene-edited PRPF31 (+/-) hiPSC-RPE show potential as biomarkers of retinal degeneration.

基因编辑的 PRPF31 (+/-) hiPSC-RPE 细胞外囊泡的 RNA 含量显示出作为视网膜变性生物标志物的潜力。

Getachew Heran, Mehrotra Sudeep, Kaur Tarandeep, Fernandez-Godino Rosario, Pierce Eric A, Garita-Hernandez Marcela

Identifying genetic determinants of outer retinal function in mice using a large-scale gene-targeted screen

利用大规模基因靶向筛选鉴定小鼠外层视网膜功能的遗传决定因素

Wotton, Janine M; Krebs, Mark P; Sangermano, Riccardo; Wong, Jessica K; Smith, Cynthia; Willett, Amelia M; Howell, Douglas; Jones, Abby; Witmeyer, Catherine; Lowy, Jacob P; McFarland, Michael; Murray, Stephan A; Braun, Robert E; Nishina, Patsy M; Pierce, Eric A; Place, Emily M; Bujakowska, Kinga M; Peachey, Neal S; White, Jacqueline K

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases

通过对超过6500个罕见病家族进行外显子组和基因组测序数据的系统分析,检测出线粒体DNA变异,从而解决了未确诊的病例。

Stenton, Sarah L; Laricchia, Kristen; Lake, Nicole J; Chaluvadi, Sushma; Ganesh, Vijay; DiTroia, Stephanie; Osei-Owusu, Ikeoluwa; Pais, Lynn; O'Heir, Emily; Austin-Tse, Christina; O'Leary, Melanie; Abu Shanap, Mayada; Barrows, Chelsea; Berger, Seth; Bönnemann, Carsten G; Bujakowska, Kinga M; Campagna, Dean R; Compton, Alison G; Donkervoort, Sandra; Fleming, Mark D; Gallacher, Lyndon; Gleeson, Joseph G; Haliloglu, Goknur; Pierce, Eric A; Place, Emily M; Sankaran, Vijay G; Shimamura, Akiko; Stark, Zornitza; Tan, Tiong Yang; Thorburn, David R; White, Susan M; Zaki, Maha S; Vilain, Eric; Lek, Monkol; Rehm, Heidi L; O'Donnell-Luria, Anne

Addressing Challenges in Developing Treatments for Inherited Retinal Diseases: Recommendations From the Third Monaciano Symposium

应对遗传性视网膜疾病治疗研发中的挑战:第三届莫纳恰诺研讨会的建议

Thompson, Debra A; Jayasundera, K Thiran; Alekseev, Oleg; Ali, Robin R; Amato, Alessia; Arshavsky, Vadim Y; Audo, Isabelle S; Auricchio, Alberto; Bainbridge, James W B; Banin, Eyal; Besirli, Cagri G; Birch, David G; Branham, Kari E; Cideciyan, Artur V; Daiger, Stephen P; Duncan, Jacque L; Fahim, Abigail T; Flannery, John G; Gattegna, Roberto; Heckenlively, John R; Héon, Elise; Iannaccone, Alessandro; Khan, Naheed W; Khateb, Samer; Klassen, Henry J; Leroy, Bart P; Marangoni, Dario; Michaelides, Michel; Musch, David C; Pennesi, Mark E; Petersen-Jones, Simon M; Pierce, Eric A; Rao, Rajesh C; Sahel, José-Alain; Sieving, Paul A; Strettoi, Enrica; Strong, Cameron R; Wubben, Thomas J; Yang, Paul; Zacks, David N

Oxidative DNA Damage Drives Apoptotic Photoreceptor Loss in NMNAT1 -Associated Inherited Retinal Degeneration: A Therapeutic Opportunity

氧化性DNA损伤驱动NMNAT1相关遗传性视网膜变性中的光感受器凋亡丢失:一个治疗契机

Zhang, Hanmeng; Valestil, Kevin; Pierce, Eric A

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

Gene Editing for CEP290-Associated Retinal Degeneration

基因编辑治疗CEP290相关视网膜变性

Pierce, Eric A; Aleman, Tomas S; Jayasundera, Kanishka T; Ashimatey, Bright S; Kim, Keunpyo; Rashid, Alia; Jaskolka, Michael C; Myers, Rene L; Lam, Byron L; Bailey, Steven T; Comander, Jason I; Lauer, Andreas K; Maguire, Albert M; Pennesi, Mark E