PAX6

Investigation of a PAX6 gene mutation in a Malaysian family with congenital aniridia

P. C. Lee, Lam, H. H., Ghani, S. A., Subrayan, V., and Chua, K. H., Investigation of a PAX6 gene mutation in a Malaysian family with congenital aniridia, vol. 13, pp. 3553-3559, 2014.

Mutations in the PAX6 gene that cause aniridia have been identified in various ethnicities but not in the Malaysian population. Therefore, the objective of this study was to investigate the PAX6 mutation in a Malaysian family with congenital aniridia. In this study, a complete ophthalmic examination was performed on a Dusun ethnic family with aniridia.

A novel mutation of PAX6 identified in a Chinese twin family with congenital aniridia complicated with nystagmus

X. Cao, Zhou, X. M., Gan, R., Jiang, L. Q., Lu, L., Wang, Y., Fan, N., Yin, Y., Yan, N. H., Yu, W. H., and Liu, X. Y., A novel mutation of PAX6 identified in a Chinese twin family with congenital aniridia complicated with nystagmus, vol. 13, pp. 8679-8685, 2014.

Genetic variations within the paired box gene 6 (PAX6) gene are associated with congenital aniridia. To detect the genetic defects in a Chinese twin family with congenital aniridia and nystagmus, exons of PAX6 were amplified by polymerase chain reaction (PCR), sequenced and compared with a reference database. Six members from the family of three generations were included in the study. The twins’ father presented with congenital aniridia, nystagmus and cataract at birth, while the twins presented with congenital aniridia and nystagmus.

Mutation analysis of gene PAX6 in human gliomas

G. R. Pinto, Clara, C. A., Santos, M. J., Almeida, J. R. W., Burbano, R. R., Rey, J. A., and Casartelli, C., Mutation analysis of gene PAX6 in human gliomas, vol. 6, pp. 1019-1025, 2007.

Gliomas are the most common tumors of the central nervous system. In spite of the marked advances in the characterization of the molecular pathogenesis of gliomas, these tumors remain incurable and, in most of the cases, resistant to treatments, due to their molecular heterogeneity. Gene PAX6, which encodes a transcription factor that plays an important role in the development of the central nervous system, was recently recognized as a tumor suppressor in gliomas.

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