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

Thrombospondin 1 missense alleles induce extracellular matrix protein aggregation and TM dysfunction in congenital glaucoma

血小板反应蛋白 1 错义等位基因诱导先天性青光眼细胞外基质蛋白聚集和 TM 功能障碍

Haojie Fu, Owen M Siggs, Lachlan Sw Knight, Sandra E Staffieri, Jonathan B Ruddle, Amy E Birsner, Edward Ryan Collantes, Jamie E Craig, Janey L Wiggs, Robert J D'Amato

Lysosomal alterations and decreased electrophysiological activity in CLN3 disease patient-derived cortical neurons

CLN3 疾病患者皮质神经元的溶酶体改变和电生理活动降低

Sueanne Chear, Sharn Perry, Richard Wilson, Aidan Bindoff, Jana Talbot, Tyson L Ware, Alexandra Grubman, James C Vickers, Alice Pébay, Jonathan B Ruddle, Anna E King, Alex W Hewitt, Anthony L Cook

Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma

SPATA13/ASEF2 突变导致原发性闭角型青光眼

Naushin H Waseem, Sancy Low, Amna Z Shah, Deepa Avisetti, Pia Ostergaard, Michael Simpson, Katarzyna A Niemiec, Belen Martin-Martin, Hebah Aldehlawi, Saima Usman, Pak Sang Lee, Anthony P Khawaja, Jonathan B Ruddle, Ameet Shah, Ege Sackey, Alexander Day, Yuzhen Jiang, Geoff Swinfield, Ananth Viswanat

Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma

全外显子组测序揭示原发性开角型青光眼的眼睛发育、未折叠蛋白反应和质膜稳态

Tiger Zhou, Emmanuelle Souzeau, Shiwani Sharma, John Landers, Richard Mills, Ivan Goldberg, Paul R Healey, Stuart Graham, Alex W Hewitt, David A Mackey, Anna Galanopoulos, Robert J Casson, Jonathan B Ruddle, Jonathan Ellis, Paul Leo, Matthew A Brown, Stuart MacGregor, David J Lynn, Kathryn P Burdon,

Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants

三种不同的视锥细胞视蛋白基因阵列突变机制及其基因型-表型相关性和视锥细胞视蛋白变体的功能研究

Jessica C Gardner, Gerald Liew, Ying-Hua Quan, Burcu Ermetal, Hisao Ueyama, Alice E Davidson, Nele Schwarz, Naheed Kanuga, Ravinder Chana, Eamonn R Maher, Andrew R Webster, Graham E Holder, Anthony G Robson, Michael E Cheetham, Jan Liebelt, Jonathan B Ruddle, Anthony T Moore, Michel Michaelides, Ali