Analysis of GPR143 Gene Mutations in Five Chinese Families with the Ocular Albinism Type I

被引:0
|
作者
Li, Ningdong [1 ]
Jiang, Jingjing [1 ]
机构
[1] Beijing Children Hosp, Ophthalmol, Beijing, Peoples R China
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
1030
引用
收藏
页数:2
相关论文
共 50 条
  • [21] Case of a Japanese Patient with X-linked Ocular Albinism Associated with the GPR143 Gene Mutation
    Ohtsubo, Masafumi
    Sato, Miho
    Hikoya, Akiko
    Hosono, Katsuhiro
    Minoshima, Shinsei
    Hotta, Yoshihiro
    JAPANESE JOURNAL OF OPHTHALMOLOGY, 2010, 54 (06) : 624 - 626
  • [22] Case of a Japanese patient with X-linked ocular albinism associated with the GPR143 gene mutation
    Masafumi Ohtsubo
    Miho Sato
    Akiko Hikoya
    Katsuhiro Hosono
    Shinsei Minoshima
    Yoshihiro Hotta
    Japanese Journal of Ophthalmology, 2010, 54 : 624 - 626
  • [23] Generation of a human Ocular Albinism type 1 iPSC line, SEIi001-A, with a mutation in GPR143
    Baulier, Edouard
    Diaz, Alejandro Garcia
    Corneo, Barbara
    Farber, Debora B.
    STEM CELL RESEARCH, 2018, 33 : 274 - 277
  • [24] Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides
    Vetrini, F
    Tammaro, R
    Bondanza, S
    Surace, EM
    Auricchio, A
    De Luca, M
    Ballabio, A
    Marigo, V
    HUMAN MUTATION, 2006, 27 (05) : 420 - 426
  • [25] Identification of a novel GPR143 mutation in X-linked ocular albinism with marked intrafamilial phenotypic variability
    Jung, Jae-Ho
    Oh, Eun Hye
    Shin, Jin-Hong
    Kim, Hyang-Sook
    Choi, Seo Young
    Choi, Kwang-Dong
    Lee, Changwook
    Choi, Jae-Hwan
    JOURNAL OF GENETICS, 2018, 97 (05) : 1479 - 1484
  • [26] Identification of a novel GPR143 mutation in X-linked ocular albinism with marked intrafamilial phenotypic variability
    Jae-Ho Jung
    Eun Hye Oh
    Jin-Hong Shin
    Hyang-Sook Kim
    Seo Young Choi
    Kwang-Dong Choi
    Changwook Lee
    Jae-Hwan Choi
    Journal of Genetics, 2018, 97 : 1479 - 1484
  • [27] The protein Ocular albinism 1 is the orphan GPCR GPR143 and mediates depressor and bradycardic responses to DOPA in the nucleus tractus solitarii
    Hiroshima, Y.
    Miyamoto, H.
    Nakamura, F.
    Masukawa, D.
    Yamamoto, T.
    Muraoka, H.
    Kamiya, M.
    Yamashita, N.
    Suzuki, T.
    Matsuzaki, S.
    Endo, I.
    Goshima, Y.
    BRITISH JOURNAL OF PHARMACOLOGY, 2014, 171 (02) : 403 - 414
  • [28] Mutation of GPR143 Associated With Ocular Albinism Type 1, Intellectual Disability, and Schizophrenia: The Complex Biological and Social Interactions Between Genetic Syndromes and Mental Illness
    Arcadepani, Felipe B.
    Gadelha, Ary
    Margolis, Russell L.
    JOURNAL OF PSYCHIATRIC PRACTICE, 2023, 29 (01) : 77 - 81
  • [29] A novel mutation, c.494C>A (p.Ala165Asp), in the GPR143 gene causes a mild phenotype in a Chinese X-linked ocular albinism patient
    Pan, Qihao
    Yi, Changxian
    Xu, Tingting
    Liu, Jinsong
    Jing, Xiangyi
    Hu, Bin
    Wang, Yiming
    ACTA OPHTHALMOLOGICA, 2016, 94 (04) : 417 - 418
  • [30] Overexpression of the gene product of ocular albinism 1 (GPR143/OA1) but not its mutant forms inhibits neurite outgrowth in PC12 cells
    Masukawa, Daiki
    Yamada, Kaisei
    Goshima, Yoshio
    JOURNAL OF PHARMACOLOGICAL SCIENCES, 2019, 141 (01) : 41 - 48