Moderate reduction of Norrin signaling activity associated with the causative missense mutations identified in patients with familial exudative vitreoretinopathy.

Qin, Minghui; Kondo, Hiroyuki; Tahira, Tomoko; Hayashi, Kenshi

Qin, Minghui; Kondo, Hiroyuki; Tahira, Tomoko; Hayashi, Kenshi.

Affiliation

Qin M; Division of Genome Analysis, Research Center for Genetic Information, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan. minghui@gen.kyushu-u.ac.jp

Hum Genet ; 122(6): 615-23, 2008 Jan.

Article in En | MEDLINE | ID: mdl-17955262

Subject(s)

Eye Proteins/genetics; Eye Proteins/metabolism; Mutation, Missense/physiology; Nerve Tissue Proteins/genetics; Nerve Tissue Proteins/metabolism; Retinal Diseases/genetics; Animals; Antigens, Surface/genetics; Antigens, Surface/metabolism; COS Cells; Cells, Cultured; Chlorocebus aethiops; Down-Regulation; Electrophoresis, Polyacrylamide Gel; Genes, Reporter; Humans; Mutagenesis, Site-Directed; Retinal Diseases/metabolism; Signal Transduction/genetics; Transfection

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Database: MEDLINE Main subject: Retinal Diseases / Mutation, Missense / Eye Proteins / Nerve Tissue Proteins Type of study: Prognostic_studies / Risk_factors_studies Limits: Animals / Humans Language: En Year: 2008 Type: Article

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