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

An FRMD4B variant suppresses dysplastic photoreceptor lesions in models of enhanced S-cone syndrome and of Nrl deficiency

FRMD4B 变体可抑制增强型 S 锥综合征和 Nrl 缺乏症模型中的发育不良感光细胞病变

Yang Kong, Lihong Zhao, Jeremy R Charette, Wanda L Hicks, Lisa Stone, Patsy M Nishina, Jürgen K Naggert

Mouse models of human ocular disease for translational research

用于转化研究的人类眼部疾病小鼠模型

Mark P Krebs, Gayle B Collin, Wanda L Hicks, Minzhong Yu, Jeremy R Charette, Lan Ying Shi, Jieping Wang, Jürgen K Naggert, Neal S Peachey, Patsy M Nishina

Elevation of 20-carbon long chain bases due to a mutation in serine palmitoyltransferase small subunit b results in neurodegeneration

由于丝氨酸棕榈酰转移酶小亚基 b 突变导致 20 碳长链碱基增多,从而导致神经退行性病变

Lihong Zhao, Stefka Spassieva, Kenneth Gable, Sita D Gupta, Lan-Ying Shi, Jieping Wang, Jacek Bielawski, Wanda L Hicks, Mark P Krebs, Juergen Naggert, Yusuf A Hannun, Teresa M Dunn, Patsy M Nishina

Meckelin is necessary for photoreceptor intraciliary transport and outer segment morphogenesis

梅克林是光感受器纤毛内运输和外节形态发生所必需的

Gayle B Collin, Jungyeon Won, Wanda L Hicks, Susan A Cook, Patsy M Nishina, Jürgen K Naggert

Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice

光感受器纤毛内蛋白质运输中断导致人类和小鼠患上莱伯先天性黑蒙症

Karsten Boldt, Dorus A Mans, Jungyeon Won, Jeroen van Reeuwijk, Andreas Vogt, Norbert Kinkl, Stef J F Letteboer, Wanda L Hicks, Ron E Hurd, Jürgen K Naggert, Yves Texier, Anneke I den Hollander, Robert K Koenekoop, Jean Bennett, Frans P M Cremers, Christian J Gloeckner, Patsy M Nishina, Ronald Roepm

An ENU-induced mutation in the Mertk gene (Mertknmf12) leads to a slow form of retinal degeneration

ENU 诱发的 Mertk 基因突变(Mertknmf12)会导致缓慢发生的视网膜退化

Dennis M Maddox, Wanda L Hicks, Douglas Vollrath, Matthew M LaVail, Jürgen K Naggert, Patsy M Nishina

Mutations of the opsin gene (Y102H and I307N) lead to light-induced degeneration of photoreceptors and constitutive activation of phototransduction in mice

视蛋白基因突变(Y102H 和 I307N)导致小鼠光感受器光诱导退化和光传导的组成性激活

Ewa Budzynski, Alecia K Gross, Suzanne D McAlear, Neal S Peachey, Meera Shukla, Feng He, Malia Edwards, Jungyeon Won, Wanda L Hicks, Theodore G Wensel, Jurgen K Naggert, Patsy M Nishina

RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis

RPGRIP1 对正常杆状感光细胞外节的形成和形态发生至关重要

Jungyeon Won, Elaine Gifford, Richard S Smith, Haiqing Yi, Paulo A Ferreira, Wanda L Hicks, Tiansen Li, Jürgen K Naggert, Patsy M Nishina