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Your search keyword '"Yin, Jinfu"' showing total 2 results
Start Over Author "Yin, Jinfu" Journal molecular vision
2 results on '"Yin, Jinfu"'

1. Inhibition by brimonidine of forskolin-induced nitric oxide synthase expression in human ciliary bodies in vitro

Author

Wu, Renyi, Yin, Jinfu, Yao, Ke, and Haefliger, Ivan

Subjects
Cryopreservation, Reverse Transcriptase Polymerase Chain Reaction, Blotting, Western, Ciliary Body, Colforsin, In Vitro Techniques, Brimonidine Tartrate, Quinoxalines, Tissue and Organ Harvesting, Humans, RNA, Messenger, Nitric Oxide Synthase, Adrenergic alpha-Agonists, Research Article
Abstract

Purpose To investigate the mRNA and protein expression of nitric oxide synthase (NOS) in human ciliary bodies in vitro. The effect of the adenylcyclase activator forskolin and/or the α2-adrenergic agonist brimonidine (an ocular hypotensive agent that inhibits aqueous humor formation) on NOS mRNA or protein expression was also studied. Methods Frozen human ciliary bodies obtained from local eye bank were thawed and incubated with 0.1 mM forskolin for 24 h in the absence or in the presence of 100 μM brimonidine. The mRNA and protein expression of three NOS isoforms (neuronal NOS or nNOS, inducible NOS or iNOS, endothelial NOS or eNOS) were assessed by reverse transcription-polymerase chain reaction (RT-PCR) and Western blot analysis, respectively. Results mRNA and protein expression of three NOS isoforms were detected in human ciliary bodies. Forskolin significantly up-regulated the mRNA and protein expression of nNOS, but not that of iNOS or of eNOS. In the presence of brimonidine, the forskolin-induced up-regulation of nNOS mRNA or protein expression was significantly inhibited. Conclusions In human ciliary body (where aqueous humor is produced), brimonidine inhibits the up-regulation of nNOS expression induced by forskolin.

Published
2007

2. Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus.

Author

Zhang B, Liu Z, Zhao G, Xie X, Yin X, Hu Z, Xu S, Li Q, Song F, Tian J, Luo W, Ding M, Yin J, Xia K, and Xia J

Subjects
Codon, Nonsense, Cytosine, Female, Genetic Linkage, Guanine, Haplotypes, Humans, Lod Score, Male, Mutation, Missense, Pedigree, Asian People genetics, Cytoskeletal Proteins genetics, Genetic Diseases, X-Linked, Membrane Proteins genetics, Mutation, Nystagmus, Congenital genetics
Abstract

Purpose: Congenital motor nystagmus (CMN) is a relatively common oculomotor disorder characterized by bilateral uncontrollable ocular oscillations. Recently, the FRMD7 gene mutation has been identified as the genetic cause of CMN. The purpose of this study was to identify mutations of the FRMD7 gene in Chinese patients with CMN., Methods: Clinical data and genomic DNA of three Chinese CMN families were collected after informed consent. Genescan by two-point linkage analysis combined with haplotype analysis was performed and mutation screening of the FRMD7 gene was conducted by direct sequencing., Results: Maximum two-point LOD scores of 2.00, 1.76, and 1.16 at theta=0.00 were obtained with markers in proximity to the FRMD7 gene on chromosome Xp26 in the three CMN families. Mutation screening in the FRMD7 gene identified two novel missense mutations (c.781C>G and c.886G>C) and one reported nonsense mutation (c.1003C>T). These nucleotide alterations were not seen in unaffected members of the families or in 100 unrelated control subjects., Conclusions: This study widens the mutation spectrum of the FRMD7 gene.

Published
2007

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