Abnormal cellular RS1 expression and retinal organoid Development in RS1(E72K) Mutation of X-Linked Juvenile Retinoschisis

被引：0
|
作者：
Chunwen, Duan [1 ,2 ]
Sun, Xihao [1 ,2 ]
Ding, Chengcheng [2 ]
Mao, Shengru [2 ]
Liang, Yuqin [1 ,2 ]
Chen, Jiansu [1 ,2 ]
Tang, Shibo [1 ,2 ]
机构：
[1] Cent South Univ, Aier Sch Ophthalmol, Changsha, Hunan, Peoples R China
[2] Aier Eye Inst, Changsha, Hunan, Peoples R China
来源：
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | 2023年 / 64卷 / 08期
关键词：
D O I：
暂无
中图分类号：
R77 [眼科学];
学科分类号：
100212 ;
摘要：
5073
引用
收藏
页数：3
相关论文
共 50 条
  • [1] CRX controls retinal expression of the X-linked juvenile retinoschisis (RS1) gene
    Langmann, Thomas
    Lai, Christine C. L.
    Weigelt, Karin
    Tam, Beatrice M.
    Warneke-Wittstock, Regina
    Moritz, Orson L.
    Weber, Bernhard H. F.
    NUCLEIC ACIDS RESEARCH, 2008, 36 (20) : 6523 - 6534
  • [2] Retinal organoids with X-linked retinoschisis RS1 (E72K) mutation exhibit a photoreceptor developmental delay and are rescued by gene augmentation therapy
    Duan, Chunwen
    Ding, Chengcheng
    Sun, Xihao
    Mao, Shengru
    Liang, Yuqin
    Liu, Xinyu
    Ding, Xiaoyan
    Chen, Jiansu
    Tang, Shibo
    STEM CELL RESEARCH & THERAPY, 2024, 15 (01)
  • [3] Retinal organoids with X-linked Retinoschisis RS1 (E72K) mutation exhibit photoreceptor developmental delay and are rescued by gene augmentation therapy
    Duan, Chunwen
    Ding, Chengcheng
    Sun, Xihao
    Mao, Shengru
    Chen, Jiansu
    Tang, Shibo
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2024, 65 (07)
  • [4] A novel truncating Rs1 mutation associated with X-linked juvenile retinoschisis
    Jin, Zi-Bing
    Nao-i, Nobuhisa
    JAPANESE JOURNAL OF OPHTHALMOLOGY, 2007, 51 (01) : 71 - 73
  • [5] A Novel Truncating Rs1 Mutation Associated With X-Linked Juvenile Retinoschisis
    Zi-Bing Jin
    Nobuhisa Nao-i
    Japanese Journal of Ophthalmology, 2007, 51 : 71 - 73
  • [6] Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis
    Gehrig, A
    White, K
    Lorenz, B
    Andrassi, M
    Clemens, S
    Weber, BHF
    CLINICAL GENETICS, 1999, 55 (06) : 461 - 465
  • [7] X-linked retinoschisis in a female with a heterozygous RS1 missense mutation
    Thomson, J
    Trump, D
    Doran, R
    Sheridan, E
    JOURNAL OF MEDICAL GENETICS, 2004, 41 : S49 - S49
  • [8] Novel RS1 mutations associated with X-linked juvenile retinoschisis
    Yi, Junhui
    Li, Shiqiang
    Jia, Xiaoyun
    Xiao, Xueshan
    Wang, Panfeng
    Guo, Xiangming
    Zhang, Qingjiong
    INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE, 2012, 29 (04) : 644 - 648
  • [9] Novel RS1 Mutation in an Irish X-Linked Retinoschisis Cohort
    Stephenson, Kirk
    Carrigan, Matthew
    Kenna, Paul
    Farrar, G. Jane
    Keegan, David
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2016, 57 (12)
  • [10] X-linked retinoschisis in a female with a heterozygous RS1 missense mutation
    Saldana, Manuel
    Thomson, Jenny
    Monk, Elizabeth
    Trump, Dorothy
    Long, Vernon
    Sheridan, Eamonn
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2007, 143A (06) : 608 - 609
12345