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

Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy

囊样黄斑病变是科恩综合征相关视网膜病变的常见特征。

Gabrielle, Pierre-Henry; Faivre, Laurence; Audo, Isabelle; Zanlonghi, Xavier; Dollfus, Hélène; Thiadens, Alberta A H J; Zeitz, Christina; Mancini, Grazia M S; Perdomo, Yaumara; Mohand-Saïd, Saddek; Lizé, Eléonore; Lhussiez, Vincent; Nandrot, Emeline F; Acar, Niyazi; Creuzot-Garcher, Catherine; Sahel, José-Alain; Ansar, Muhammad; Thauvin-Robinet, Christel; Duplomb, Laurence; Da Costa, Romain

Vps13b is required for acrosome biogenesis through functions in Golgi dynamic and membrane trafficking

Vps13b 通过参与高尔基体动态和膜运输,对顶体生物发生必不可少

Romain Da Costa, Morgane Bordessoules, Magali Guilleman, Virginie Carmignac, Vincent Lhussiez, Hortense Courot, Amandine Bataille, Amandine Chlémaire, Céline Bruno, Patricia Fauque, Christel Thauvin, Laurence Faivre, Laurence Duplomb

Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors

科恩综合征相关白内障可通过 VPS13B 在晶状体稳态中的作用来解释,并受其他遗传因素的影响

Vincent Lhussiez, Elisabeth Dubus, Quénol Cesar, Niyazi Acar, Emeline F Nandrot, Manuel Simonutti, Isabelle Audo, Eléonore Lizé, Sylvie Nguyen, Audrey Geissler, André Bouchot, Muhammad Ansar, Serge Picaud, Christel Thauvin-Robinet, Laurence Olivier-Faivre, Laurence Duplomb, Romain Da Costa