CCDC111 mutation was identified in high myopia through exome sequencing

被引:0
|
作者
Zhao, Fuxin [1 ]
Zhou, Xiangtian [1 ]
Xue, Anquan [1 ]
Su, Yanfeng [1 ]
Qu, Jia [1 ]
机构
[1] Wenzhou Med Coll, Sch Ophthal & Optometry, Wenzhou, Peoples R China
关键词
539; genetics; 605; myopia;
D O I
暂无
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
3361
引用
收藏
页数:2
相关论文
共 50 条
  • [31] Novel Causes of Bone Dysplasias Identified through Whole Exome Sequencing.
    Farrow, Emily
    Ceylaner, Serdar
    Bicakci, Zafer
    Cetinkaya, Ergun
    Patterson, Melanie
    Krivohlavek, Lisa
    Gibson, Margaret
    Barger, Katie
    Saunders, Carol
    Miller, Neil
    Mardis, Neil
    Kingsmore, Stephen
    JOURNAL OF BONE AND MINERAL RESEARCH, 2014, 29 : S73 - S74
  • [32] CCDC66 mutations are associated with high myopia through affected cell mitosis
    Chen, Xiaozhen
    Tong, Ping
    Jiang, Ying
    Cheng, Zhe
    Zang, Liyu
    Yang, Zhikuan
    Lan, Weizhong
    Xia, Kun
    Hu, Zhengmao
    Tian, Qi
    JOURNAL OF MEDICAL GENETICS, 2024, 61 (03) : 262 - 269
  • [33] Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathy
    Grażyna T. Truszkowska
    Zofia T. Bilińska
    Angelika Muchowicz
    Agnieszka Pollak
    Anna Biernacka
    Katarzyna Kozar-Kamińska
    Piotr Stawiński
    Piotr Gasperowicz
    Joanna Kosińska
    Tomasz Zieliński
    Rafał Płoski
    Scientific Reports, 7
  • [34] Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathy
    Truszkowska, Grazyna T.
    Bilinska, Zofia T.
    Muchowicz, Angelika
    Pollak, Agnieszka
    Biernacka, Anna
    Kozar-Kaminska, Katarzyna
    Stawinski, Piotr
    Gasperowicz, Piotr
    Kosinska, Joanna
    Zielinski, Tomasz
    Ploski, Rafal
    SCIENTIFIC REPORTS, 2017, 7
  • [35] A Novel De Novo Frameshift Mutation in KAT6A Identified by Whole Exome Sequencing
    Alkhateeb, Asem
    Alazaizeh, Wafa
    JOURNAL OF PEDIATRIC GENETICS, 2019, 8 (01) : 10 - 14
  • [36] A novel NOTCH3 mutation identified in patients with oral cancer by whole exome sequencing
    Yi, Yanjun
    Tian, Zhuowei
    Ju, Houyu
    Ren, Guoxin
    Hu, Jingzhou
    INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE, 2017, 39 (06) : 1541 - 1547
  • [37] Whole exome sequencing of known eye genes reveals genetic causes for high myopia
    Haarman, Annechien E. G.
    Thiadens, Alberta A. H. J.
    van Tienhoven, Marianne
    Loudon, Sjoukje E.
    de Klein, J. E. M. M. Annelies
    Brosens, Erwin
    Polling, Jan Roelof
    van der Schoot, Vyne
    Bouman, Arjan
    Kievit, Anneke J. A.
    Hoefsloot, Lies H.
    Klaver, Caroline C. W.
    Verhoeven, Virginie J. M.
    HUMAN MOLECULAR GENETICS, 2022, 31 (19) : 3290 - 3298
  • [38] Whole-Exome Sequencing Among School-Aged Children With High Myopia
    Yu, Xiangyi
    Yuan, Jian
    Chen, Zhen Ji
    Li, Kai
    Yao, Yinghao
    Xing, Shilai
    Xue, Zhengbo
    Zhang, Yue
    Peng, Hui
    An, Gang
    Yu, Xiaoguang
    Qu, Jia
    Su, Jianzhong
    JAMA NETWORK OPEN, 2023, 6 (12) : E2345821
  • [39] Whole Exome Sequencing Identifies a Rare Variant Co-segregating with High Myopia
    Kloss, Bethany A.
    Tompson, Stuart W. J.
    Whisenhunt, Kristina
    Huang, Samuel J.
    Rosenberg, Thomas
    Young, Terri L.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2016, 57 (12)
  • [40] Genes Influencing the Development and Severity of Chronic ITP Identified through Whole Exome Sequencing
    Despotovic, Jenny M.
    Polfus, Linda M.
    Flanagan, Jonathan M.
    Bennett, Carolyn M.
    Lambert, Michele P.
    Neunert, Cindy
    Kumar, Manjusha
    Klaassen, Robert J.
    Thornburg, Courtney
    Jeng, Michael
    Recht, Michael
    Kirk, Susan E.
    Thompson, Alexis A.
    Nugent, Diane J.
    Neufeld, Ellis J.
    Bussel, James B.
    Boerwinkle, Eric
    Grace, Rachael F.
    BLOOD, 2015, 126 (23)