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

CRISPR-Cas9-based treatment of myocilin-associated glaucoma

基于 CRISPR-Cas9 的肌动蛋白相关青光眼治疗

Ankur Jain, Gulab Zode, Ramesh B Kasetti, Fei A Ran, Winston Yan, Tasneem P Sharma, Kevin Bugge, Charles C Searby, John H Fingert, Feng Zhang, Abbot F Clark, Val C Sheffield

BBS mutations modify phenotypic expression of CEP290-related ciliopathies

BBS 突变改变 CEP290 相关纤毛病的表型表达

Yan Zhang, Seongjin Seo, Sajag Bhattarai, Kevin Bugge, Charles C Searby, Qihong Zhang, Arlene V Drack, Edwin M Stone, Val C Sheffield

Ectopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null mice

人类 BBS4 的异位表达可以挽救 Bbs4 基因敲除小鼠的 Bardet-Biedl 综合征表型

Xitiz Chamling, Seongjin Seo, Kevin Bugge, Charles Searby, Deng F Guo, Arlene V Drack, Kamal Rahmouni, Val C Sheffield

Abnormal development of NG2+PDGFR-α+ neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse model

NG2+PDGFR-α+神经祖细胞发育异常导致纤毛病小鼠模型中新生儿脑积水

Calvin S Carter, Timothy W Vogel, Qihong Zhang, Seongjin Seo, Ruth E Swiderski, Thomas O Moninger, Martin D Cassell, Daniel R Thedens, Kim M Keppler-Noreuil, Peggy Nopoulos, Darryl Y Nishimura, Charles C Searby, Kevin Bugge, Val C Sheffield

BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes

BBS 蛋白与 IFT 通路发生遗传相互作用,影响 SHH 相关表型

Qihong Zhang, Seongjin Seo, Kevin Bugge, Edwin M Stone, Val C Sheffield

A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened

一种新型蛋白质 LZTFL1 调节 BBSome 和 Smoothened 的纤毛运输

Seongjin Seo, Qihong Zhang, Kevin Bugge, David K Breslow, Charles C Searby, Maxence V Nachury, Val C Sheffield