Understanding the Effect of Autosomal Dominant Retinitis Pigmentosa Mutations in PRPF6 and PRPF31 on Pre-Messenger RNA Splicing

被引：0
|
作者：
Gavigan, Malcolm [1 ]
Vargas, Marina [1 ]
Meyers, Caroline [1 ]
Wagle, Ashna [1 ]
King, Jonathan [1 ]
Maeder, Corina [1 ]
机构：
[1] Trinity Univ, San Antonio, TX USA
来源：
JOURNAL OF BIOLOGICAL CHEMISTRY | 2023年 / 299卷 / 03期
关键词：
D O I：
10.1016/j.jbc.2023.104220
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
1748
引用
收藏
页码：S660 / S660
页数：1
相关论文
共 50 条
  • [21] Novel deletion in the Pre-mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa in a large chinese family
    Wang, LJ
    Ribaudo, M
    Zhao, KX
    Yu, N
    Chen, QY
    Sun, QX
    Wang, LM
    Wang, Q
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 121A (03) : 235 - 239
  • [22] Targeted exome capture and sequencing identifies novel PRPF31 mutations in autosomal dominant retinitis pigmentosa in Chinese families
    Yang, Liping
    Yin, Xiaobei
    Wu, Lemeng
    Chen, Ningning
    Zhang, Huirong
    Li, Genlin
    Ma, Zhizhong
    BMJ OPEN, 2013, 3 (11):
  • [23] Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement
    Martin-Merida, Inmaculada
    Sanchez-Alcudia, Rocio
    Jose, Patricia Fernandez-San
    Blanco-Kelly, Fiona
    Perez-Carro, Raquel
    da Silva, Luciana Rodriguez-Jacy
    Almoguera, Berta
    Garcia-Sandoval, Blanca
    Lopez-Molina, Maria Isabel
    Avila-Fernandez, Almudena
    Carballo, Miguel
    Corton, Marta
    Ayuso, Carmen
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2017, 58 (02) : 1045 - 1053
  • [24] Identification of two novel PRPF31 mutations in Chinese families with non-syndromic autosomal dominant retinitis pigmentosa
    Cao, Li
    Peng, Chunyan
    Yu, Jing
    Jiang, Wei
    Yang, Jiyun
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2020, 8 (12):
  • [25] A Novel PRPF31 Mutation in a Large Chinese Family with Autosomal Dominant Retinitis Pigmentosa and Macular Degeneration
    Lu, Fang
    Huang, Lulin
    Lei, Chuntao
    Sha, Guiquan
    Zheng, Hong
    Liu, Xiaoqi
    Yang, Jiyun
    Shi, Yi
    Lin, Ying
    Gong, Bo
    Zhu, Xianjun
    Ma, Shi
    Qiao, Lifeng
    Lin, He
    Cheng, Jing
    Yang, Zhenglin
    PLOS ONE, 2013, 8 (11):
  • [26] Novel PRPF31 and PRPH2 Mutations and Co-occurrence of PRPF31 and RHO Mutations in Chinese Patients With Retinitis Pigmentosa
    Lim, King Poo
    Yip, Shea Ping
    Cheung, Suk Chun
    Leung, Kam Wah
    Lam, Stephen T. S.
    To, Chi Ho
    ARCHIVES OF OPHTHALMOLOGY, 2009, 127 (06) : 784 - 790
  • [27] Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa:: A molecular clue for incomplete penetrance?
    Vithana, EN
    Abu-Safieh, L
    Pelosini, L
    Winchester, E
    Hornan, D
    Bird, AC
    Hunt, DM
    Bustin, SA
    Bhattacharya, SS
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2003, 44 (10) : 4204 - 4209
  • [28] A novel PRPF31 splice-site mutation in a Chinese family with autosomal dominant retinitis pigmentosa
    Xia, K
    Zheng, D
    Pan, Q
    Liu, Z
    Xi, XH
    Hu, ZM
    Deng, H
    Liu, XP
    Jiang, DY
    Deng, HX
    Xia, JH
    MOLECULAR VISION, 2004, 10 (45): : 361 - 365
  • [29] Genotype / Phenotype correlation of autosomal dominant Retinitis Pigmentosa (adRP) due to deletion of the PRPF31 gene
    Kenna, Paul F.
    Duignan, Emma
    Dockery, Adrian
    Dempy, Hilary
    Whelan, Laura
    Roosing, Susanne
    Farrar, G. Jane
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2021, 62 (08)
  • [30] PRPF4 mutations cause autosomal dominant retinitis pigmentosa
    Chen, Xue
    Liu, Yuan
    Sheng, Xunlun
    Tam, Pancy O. S.
    Zhao, Kanxing
    Chen, Xuejuan
    Rong, Weining
    Liu, Yani
    Liu, Xiaoxing
    Pan, Xinyuan
    Chen, Li Jia
    Zhao, Qingshun
    Vollrath, Douglas
    Pang, Chi Pui
    Zhao, Chen
    HUMAN MOLECULAR GENETICS, 2014, 23 (11) : 2926 - 2939
12345