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

Cellular Changes in Retinas From Patients With BEST1 Mutations

BEST1 突变患者视网膜的细胞变化

Vera L Bonilha, Brent A Bell, Meghan J DeBenedictis, Stephanie A Hagstrom, Gerald A Fishman, Joe G Hollyfield

North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13

北卡罗来纳州黄斑营养不良症是由视网膜转录因子PRDM13失调引起的

Kent W Small ,Adam P DeLuca ,S Scott Whitmore ,Thomas Rosenberg ,Rosemary Silva-Garcia ,Nitin Udar ,Bernard Puech ,Charles A Garcia ,Thomas A Rice ,Gerald A Fishman ,Elise Héon ,James C Folk ,Luan M Streb ,Christine M Haas ,Luke A Wiley ,Todd E Scheetz ,John H Fingert ,Robert F Mullins ,Budd A Tucker ,Edwin M Stone

iPS cell modeling of Best disease: insights into the pathophysiology of an inherited macular degeneration

贝斯特病的 iPS 细胞建模:深入了解遗传性黄斑变性的病理生理学

Ruchira Singh, Wei Shen, David Kuai, Jessica M Martin, Xiangrong Guo, Molly A Smith, Enio T Perez, M Joseph Phillips, Joseph M Simonett, Kyle A Wallace, Amelia D Verhoeven, Elizabeth E Capowski, Xiaoqing Zhang, Yingnan Yin, Patrick J Halbach, Gerald A Fishman, Lynda S Wright, Bikash R Pattnaik, Davi

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

NMNAT1 突变导致莱伯先天性黑蒙,并确定了视网膜变性的新疾病途径

Robert K Koenekoop, Hui Wang, Jacek Majewski, Xia Wang, Irma Lopez, Huanan Ren, Yiyun Chen, Yumei Li, Gerald A Fishman, Mohammed Genead, Jeremy Schwartzentruber, Naimesh Solanki, Elias I Traboulsi, Jingliang Cheng, Clare V Logan, Martin McKibbin, Bruce E Hayward, David A Parry, Colin A Johnson, Moha