Patsy M Nishina相关文献与解析，生知库 | 链接生命科学的每一步

Deficiency in Lyst function leads to accumulation of secreted proteases and reduced retinal adhesion

Lyst 功能缺陷导致分泌蛋白酶积聚，视网膜粘连减少

doi:10.1371/journal.pone.0254469

Xiaojie Ji, Lihong Zhao, Ankita Umapathy, Bernard Fitzmaurice, Jieping Wang, David S Williams, Bo Chang, Jürgen K Naggert, Patsy M Nishina

A Splicing Mutation in Slc4a5 Results in Retinal Detachment and Retinal Pigment Epithelium Dysfunction

Slc4a5 剪接突变导致视网膜脱离和视网膜色素上皮功能障碍

期刊:International Journal of Molecular Sciences

影响因子:0.7

doi:10.3390/ijms23042220

Gayle B Collin, Lanying Shi, Minzhong Yu, Nurten Akturk, Jeremy R Charette, Lillian F Hyde, Sonia M Weatherly, Martin F Pera, Jürgen K Naggert, Neal S Peachey, Patsy M Nishina, Mark P Krebs

A Dpagt1 Missense Variant Causes Degenerative Retinopathy without Myasthenic Syndrome in Mice

Dpagt1 错义变异导致小鼠患上退行性视网膜病变（不伴有肌无力综合征）

期刊:International Journal of Molecular Sciences

影响因子:0.7

doi:10.3390/ijms231912005

Lillian F Hyde, Yang Kong, Lihong Zhao, Sriganesh Ramachandra Rao, Jieping Wang, Lisa Stone, Andrew Njaa, Gayle B Collin, Mark P Krebs, Bo Chang, Steven J Fliesler, Patsy M Nishina, Jürgen K Naggert

其它

发表日期：2022

文献求助收藏

Single-Cell RNA Sequencing Reveals Molecular Features of Heterogeneity in the Murine Retinal Pigment Epithelium

单细胞 RNA 测序揭示小鼠视网膜色素上皮细胞异质性的分子特征

期刊:International Journal of Molecular Sciences

影响因子:0.7

doi:10.3390/ijms231810419

Ravi S Pandey, Mark P Krebs, Mohan T Bolisetty, Jeremy R Charette, Jürgen K Naggert, Paul Robson, Patsy M Nishina, Gregory W Carter

Identification of Arhgef12 and Prkci as genetic modifiers of retinal dysplasia in the Crb1rd8 mouse model

鉴定出 Arhgef12 和 Prkci 是 Crb1rd8 小鼠模型中视网膜发育不良的遗传修饰因子

期刊:PLoS Genetics

影响因子:

doi:10.1371/journal.pgen.1009798

Sonia M Weatherly, Gayle B Collin, Jeremy R Charette, Lisa Stone, Nattaya Damkham, Lillian F Hyde, James G Peterson, Wanda Hicks, Gregory W Carter, Jürgen K Naggert, Mark P Krebs, Patsy M Nishina

A missense mutation in Pitx2 leads to early-onset glaucoma via NRF2-YAP1 axis

Pitx2 错义突变通过 NRF2-YAP1 轴导致早发性青光眼

期刊:Cell Death & Disease

影响因子:8.1

doi:10.1038/s41419-021-04331-1

Yeming Yang #, Xiao Li #, Jieping Wang, Junkai Tan, Bernie Fitzmaurice, Patsy M Nishina, Kuanxiang Sun, Wanli Tian, Wenjing Liu, Xuyang Liu, Bo Chang, Xianjun Zhu

信号转导

发表日期：2021

文献求助收藏

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

期刊:Human Molecular Genetics

影响因子:3.1

doi:10.1093/hmg/ddy238

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

期刊:PLoS One

影响因子:2.9

doi:10.1371/journal.pone.0183837

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

Retinal Pigment Epithelium Atrophy 1 (rpea1): A New Mouse Model With Retinal Detachment Caused by a Disruption of Protein Kinase C, θ

视网膜色素上皮萎缩 1 (rpea1)：一种因蛋白激酶 C、θ 破坏而导致视网膜脱离的新型小鼠模型

期刊:Investigative Ophthalmology & Visual Science

影响因子:5

doi:10.1167/iovs.15-17495

Xiaojie Ji, Ye Liu, Ron Hurd, Jieping Wang, Bernie Fitzmaurice, Patsy M Nishina, Bo Chang

Epithelial mechanics are maintained by inhibiting cell fusion with age in Drosophila

果蝇上皮细胞的力学通过抑制细胞随年龄融合来维持

Deficiency in Lyst function leads to accumulation of secreted proteases and reduced retinal adhesion

Lyst 功能缺陷导致分泌蛋白酶积聚，视网膜粘连减少

A Splicing Mutation in Slc4a5 Results in Retinal Detachment and Retinal Pigment Epithelium Dysfunction

Slc4a5 剪接突变导致视网膜脱离和视网膜色素上皮功能障碍

A Dpagt1 Missense Variant Causes Degenerative Retinopathy without Myasthenic Syndrome in Mice

Dpagt1 错义变异导致小鼠患上退行性视网膜病变（不伴有肌无力综合征）

Single-Cell RNA Sequencing Reveals Molecular Features of Heterogeneity in the Murine Retinal Pigment Epithelium

单细胞 RNA 测序揭示小鼠视网膜色素上皮细胞异质性的分子特征

Identification of Arhgef12 and Prkci as genetic modifiers of retinal dysplasia in the Crb1rd8 mouse model

鉴定出 Arhgef12 和 Prkci 是 Crb1rd8 小鼠模型中视网膜发育不良的遗传修饰因子

A missense mutation in Pitx2 leads to early-onset glaucoma via NRF2-YAP1 axis

Pitx2 错义突变通过 NRF2-YAP1 轴导致早发性青光眼

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

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

Retinal Pigment Epithelium Atrophy 1 (rpea1): A New Mouse Model With Retinal Detachment Caused by a Disruption of Protein Kinase C, θ

视网膜色素上皮萎缩 1 (rpea1)：一种因蛋白激酶 C、θ 破坏而导致视网膜脱离的新型小鼠模型