Stargardt Disease with Preserved Central Vision: identification of a putative novel mutation in ATP-binding cassette transporter gene

被引：12
|
作者：
Fujinami, Kaoru [1 ]
Akahori, Masakazu [2 ]
Fukui, Masaki [1 ]
Tsunoda, Kazushige [1 ]
Iwata, Takeshi [2 ]
Miyake, Yozo [1 ,3 ]
机构：
[1] Natl Inst Sensory Organs, Lab Visual Physiol, Meguro Ku, Tokyo 1528902, Japan
[2] Tokyo Med Ctr, Natl Hosp Org, Natl Inst Sensory Organs, Div Mol & Cellular Biol,Meguro Ku, Tokyo, Japan
[3] Aichi Shukutoku Univ, Nagakute, Aichi, Japan
来源：
ACTA OPHTHALMOLOGICA | 2011年 / 89卷 / 03期
关键词：
ABCA4; GENE;
D O I：
10.1111/j.1755-3768.2009.01848.x
中图分类号：
R77 [眼科学];
学科分类号：
100212 ;
摘要：
引用
收藏
页码：E297 / E298
页数：2
相关论文
共 50 条
  • [21] MULTIDRUG-RESISTANCE MEDIATED BY MRP, A NOVEL ATP-BINDING CASSETTE TRANSPORTER
    DEELEY, RG
    GRANT, CE
    ALMQUIST, KC
    HIPFNER, DR
    VALDIMARSSON, G
    KURZ, EU
    STRIDE, B
    LOE, DW
    COLE, SPC
    JOURNAL OF CELLULAR BIOCHEMISTRY, 1994, : 99 - 99
  • [22] IDENTIFICATION OF MUTATIONS IN THE PUTATIVE ATP-BINDING DOMAIN OF THE ADRENOLEUKODYSTROPHY GENE
    FANEN, P
    GUIDOUX, S
    SARDE, CO
    MANDEL, JL
    GOOSSENS, M
    AUBOURG, P
    JOURNAL OF CLINICAL INVESTIGATION, 1994, 94 (02): : 516 - 520
  • [23] Association of ATP-binding cassette transporter variants with the risk of Alzheimer's disease
    Cascorbi, Ingolf
    Flueh, Charlotte
    Remmler, Cornelia
    Haenisch, Sierk
    Faltraco, Frank
    Grumbt, Maria
    Peters, Michele
    Brenn, Anja
    Thal, Dietmar Rudolf
    Warzok, Rolf Wolfgang
    Vogelgesang, Silke
    PHARMACOGENOMICS, 2013, 14 (05) : 485 - 494
  • [24] The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease:: from monogenic to multifactorial
    Shroyer, NF
    Lewis, RA
    Allikmets, R
    Singh, N
    Dean, M
    Leppert, M
    Lupski, JR
    VISION RESEARCH, 1999, 39 (15) : 2537 - 2544
  • [25] Identification and characterisation of putative drug binding sites in human ATP-binding cassette B5 (ABCB5) transporter
    Tangella, Lokeswari P.
    Arooj, Mahreen
    Deplazes, Evelyne
    Gray, Elin S.
    Mancera, Ricardo L.
    COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL, 2021, 19 : 691 - 704
  • [26] Identification of a new P-glycoprotein-like ATP-binding cassette transporter gene that is overexpressed during hepatocarcinogenesis
    Furuya, KN
    Bradley, G
    Sun, DX
    Schuetz, EG
    Schuetz, JD
    CANCER RESEARCH, 1997, 57 (17) : 3708 - 3716
  • [27] Identification and Expression Characterization of ATP-Binding Cassette (ABC) Transporter Genes in Melon Fly
    Xu, Hui-Qian
    Ma, Meng
    Ma, Yun-Peng
    Zhang, Su-Yun
    Li, Wei-Jun
    Wei, Dong
    Wang, Jin-Jun
    INSECTS, 2021, 12 (03)
  • [28] Identification and localization of a putative ATP-binding cassette transporter in sea lice (Lepeophtheirus salmonis) and host Atlantic salmon (Salmo salar)
    Tribble, N. D.
    Burka, J. F.
    Kibenge, F. S. B.
    Wright, G. M.
    PARASITOLOGY, 2008, 135 (02) : 243 - 255
  • [29] ATP-binding cassette superfamily transporter gene expression in human primary ovarian carcinoma
    Ohishi, Y
    Oda, Y
    Uchiumi, T
    Kobayashi, H
    Hirakawa, T
    Miyamoto, S
    Kinukawa, N
    Nakano, H
    Kuwano, M
    Tsuneyoshi, M
    CLINICAL CANCER RESEARCH, 2002, 8 (12) : 3767 - 3775
  • [30] Functional analysis of the ATP-binding cassette (ABC) transporter gene family of Tribolium castaneum
    Broehan, Gunnar
    Kroeger, Tobias
    Lorenzen, Marce
    Merzendorfer, Hans
    BMC GENOMICS, 2013, 14
12345