Title |
Evaluation of the OPTC gene in primary open angle glaucoma: functional significance of a silent change
|
---|---|
Published in |
BMC Molecular and Cell Biology, March 2007
|
DOI | 10.1186/1471-2199-8-21 |
Pubmed ID | |
Authors |
Moulinath Acharya, Suddhasil Mookherjee, Ashima Bhattacharjee, Sanjay KD Thakur, Arun K Bandyopadhyay, Abhijit Sen, Subhabrata Chakrabarti, Kunal Ray |
Abstract |
We investigated the molecular basis of primary open-angle glaucoma (POAG) using Opticin (OPTC) as a candidate gene on the basis of its expression in the trabecular meshwork cells involved in the disease pathogenesis. Two hundred POAG patients and 100 controls were enrolled in this study. The coding sequence of OPTC was amplified by PCR from genomic DNA of POAG patients, followed by SSCP, DHPLC and DNA sequencing. Subsequent bioinformatic analysis, site-directed mutagenesis, quantitative RT-PCR and western blot experiments were performed to address the functional significance of a 'silent' change in the OPTC coding region while screening for mutations in POAG patients. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Malaysia | 1 | 4% |
Unknown | 22 | 96% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Professor | 4 | 17% |
Student > Bachelor | 3 | 13% |
Researcher | 3 | 13% |
Student > Ph. D. Student | 2 | 9% |
Student > Master | 2 | 9% |
Other | 2 | 9% |
Unknown | 7 | 30% |
Readers by discipline | Count | As % |
---|---|---|
Biochemistry, Genetics and Molecular Biology | 10 | 43% |
Medicine and Dentistry | 4 | 17% |
Agricultural and Biological Sciences | 2 | 9% |
Unknown | 7 | 30% |