日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

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

Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis

血液系统恶性肿瘤易感基因DDX41的双等位基因种系变异通过扰乱视网膜稳态导致视网膜营养不良。

Mars, Zoéline; Zanetti, Andrea; Kaminska, Karolina; Miyagawa, Takero; Liu, Duanya; Antonio, Aline; Arno, Gavin; Audo, Isabelle; Ayuso, Carmen; Muhammad Jafar Hussain, Hafiz; Bao, Xuan; Barberán-Martínez, Pilar; Bocquet, Béatrice; Boguszewska-Chachulska, Anna; Condroyer, Christel; David, Pierre; Dollfus, Hélène; Fares-Taie, Lucas; Fernández-Caballero, Lidia; García-García, Gema; Michel, Victor; Guerrera, Chiara Ida; Jung, Vincent; Kessel, Line; Gioja, Louise; Lin, Siying; Matczynska, Ewa; Millán, Jose M; Moye, Abigail R; Martín-Gutiérrez, M Pilar; Quinodoz, Mathieu; Robert, Matthieu P; Roger, Jerome E; Sousa-Luis, Rui; Swafiri, Saoud Tahsin; Teper, Slawomir; Meunier, Isabelle; Patat, Olivier; Pennesi, Mark E; Wadt, Karin A W; Wang, Meng; Webster, Andrew R; Yang, Paul; Yumei, Li; Zeitz, Christina; Rieux-Laucat, Frederic; Giraudier, Stéphane; Chen, Rui; Fica, Sebastian M; Rivolta, Carlo; Sebert, Marie; Rozet, Jean-Michel; Perrault, Isabelle

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

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

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

Sub-ciliary localization of CEP290 and effects of its loss in mouse photoreceptors during development

CEP290在小鼠光感受器中位于纤毛下,其缺失对小鼠发育过程中光感受器的影响

Moye, Abigail R; Robichaux, Michael A; Agosto, Melina A; Moulin, Alexandre P; Graff-Meyer, Alexandra; Rivolta, Carlo; Wensel, Theodore G

Ciliopathy-associated protein, CEP290, is required for ciliary necklace and outer segment membrane formation in retinal photoreceptors.

纤毛病相关蛋白 CEP290 是视网膜感光细胞中纤毛项链和外节膜形成所必需的

Moye Abigail R, Robichaux Michael A, Agosto Melina A, Rivolta Carlo, Moulin Alexandre P, Wensel Theodore G

Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction

SAMD7基因突变会导致常染色体隐性遗传性黄斑营养不良,伴或不伴视锥细胞功能障碍。

Bauwens, Miriam; Celik, Elifnaz; Zur, Dinah; Lin, Siying; Quinodoz, Mathieu; Michaelides, Michel; Webster, Andrew R; Van Den Broeck, Filip; Leroy, Bart P; Rizel, Leah; Moye, Abigail R; Meunier, Audrey; Tran, Hoai Viet; Moulin, Alexandre P; Mahieu, Quinten; Van Heetvelde, Mattias; Arno, Gavin; Rivolta, Carlo; De Baere, Elfride; Ben-Yosef, Tamar

Centriole and transition zone structures in photoreceptor cilia revealed by cryo-electron tomography

冷冻电镜断层扫描揭示光感受器纤毛中的中心粒和过渡区结构

Zhang, Zhixian; Moye, Abigail R; He, Feng; Chen, Muyuan; Agosto, Melina A; Wensel, Theodore G

ARL2BP, a protein linked to retinitis pigmentosa, is needed for normal photoreceptor cilia doublets and outer segment structure

ARL2BP是一种与视网膜色素变性相关的蛋白质,是正常感光细胞纤毛双联体和外节结构所必需的。

Moye, Abigail R; Singh, Ratnesh; Kimler, Victoria A; Dilan, Tanya L; Munezero, Daniella; Saravanan, Thamaraiselvi; Goldberg, Andrew F X; Ramamurthy, Visvanathan