Evidence for a genetic locus modulating the severity of retinitis pigmentosa caused by the rhodopsin mutation P23H

被引:0
作者
Dryja, TP
Sandberg, MA
Ott, J
Berson, EL
机构
[1] HARVARD UNIV,SCH MED,MASSACHUSETTS EYE & EAR INFIRM,OCULAR MOL GENET INST,BOSTON,MA 02114
[2] HARVARD UNIV,SCH MED,MASSACHUSETTS EYE & EAR INFIRM,BERMAN GUND LAB,BOSTON,MA 02114
[3] ROCKEFELLER UNIV,LAB STAT GENET,NEW YORK,NY 11021
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
引用
收藏
页码:3701 / 3701
页数:1
相关论文
共 50 条
  • [31] FREQUENCY OF RHODOPSIN CODON-23 MUTATION AND RETINITIS-PIGMENTOSA
    LESTER, DH
    WRIGHT, AF
    LANCET, 1991, 337 (8757) : 1609 - 1609
  • [32] Transmission Electron Microscopic Study of P23H Retinopathy in a Swine Model of Retinitis Pigmentosa
    Scott, Patrick
    Kaplan, Henry
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2013, 54 (15)
  • [33] Investigating the role of mutational load and cis modifiers of disease severity in RHO P23H autosomal dominant Retinitis Pigmentosa
    Sangermano, Riccardo
    Galdikaite-Braziene, Egle
    Zampaglione, Erin
    Pierce, Eric A.
    Segre, Ayellet V.
    Comander, Jason
    Bujakowska, Kinga Maria
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2022, 63 (07)
  • [34] Therapeutic potential of archaeal unfoldase PANet and the gateless T20S proteasome in P23H rhodopsin retinitis pigmentosa mice
    Brooks, Celine
    Kolson, Douglas
    Sechrest, Emily
    Chuah, Janelle
    Schupp, Jane
    Billington, Neil
    Deng, Wen-Tao
    Smith, David
    Sokolov, Maxim
    PLOS ONE, 2024, 19 (10):
  • [35] Allele-Specific CRISPR-Cas9 Genome Editing of the Single-Base P23H Mutation for Rhodopsin-Associated Dominant Retinitis Pigmentosa
    Li, Pingjuan
    Kleinstiver, Benjamin P.
    Leon, Mihoko Y.
    Prew, Michelle S.
    Navarro-Gomez, Daniel
    Greenwald, Scott H.
    Piprce, Eric A.
    Joung, J. Keith
    Liu, Qin
    CRISPR JOURNAL, 2018, 1 (01): : 55 - 64
  • [36] Histopathologic study of variation in severity of retinitis pigmentosa due to the dominant rhodopsin mutation Pro23His
    To, K
    Adamian, M
    Dryja, TP
    Berson, EL
    AMERICAN JOURNAL OF OPHTHALMOLOGY, 2002, 134 (02) : 290 - 293
  • [37] Rescue of Photoreceptor Degeneration by Curcumin in Transgenic Rats with P23H Rhodopsin Mutation
    Vasireddy, Vidyullatha
    Chavali, Venkata R. M.
    Joseph, Victory T.
    Kadam, Rajendra
    Lin, Jonathan H.
    Jamison, Jeffrey A.
    Kompella, Uday B.
    Reddy, Geereddy Bhanuprakash
    Ayyagari, Radha
    PLOS ONE, 2011, 6 (06):
  • [38] Preservation of Cone Function in Male Mice Carrying the P23H Rhodopsin Mutation
    Mathew, Deepa
    Sturgis, Lee
    Vinberg, Frans
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2024, 65 (07)
  • [39] Retinal Vascular Degeneration and Macroglia Changes in the Transgenic P23H Rat Model of Retinitis Pigmentosa
    Pinilla, I.
    Fernandez-Sanchez, L.
    Esquiva, G.
    Cuenca, N.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2010, 51 (13)
  • [40] Histopathologic study of variation in severity of retinitis pigmentosa due to the dominant rhodopsin mutation Pro23His.
    Adamian, M
    To, K
    Berson, EL
    Dryja, TP
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2000, 41 (04) : S885 - S885