Enriched Cultures of Retinal Cells From BJNhem20 Human Embryonic Stem Cell Line of Indian Origin.
Hyderābād, India. In Invest Ophthalmol Vis Sci, Nov 2015
Neuro-retinal cells expressed the neural markers, Map2, β-III tubulin, acetylated tubulin and photoreceptor-specific markers, Crx, rhodopsin, recoverin, calbindin, PKC, NeuroD1, RLBP1, rhodopsin kinase, PDE6A, and PDE6C.
Achromatopsia caused by novel missense mutations in the CNGA3 gene.
Tianjin, China. In Int J Ophthalmol, 2014
To further confirm and localize the causative mutations in this family, targeted region capture and next-generation sequencing of candidate genes, such as CNGA3, CNGB3, GNAT2, PDE6C, and PDE6H were performed using a custom-made capture array.
[Progress on study of achromatopsia and targeted gene therapy].
Wenzhou, China. In Zhonghua Yan Ke Za Zhi, 2012
To date, four genes have been found to be implicated in achromatopsia-associated mutations: guanine nucleotide-binding protein (GNAT2), cyclic nucleotide-gated channel alpha-3 (CNGA3), cyclic nucleotide-gated channel beta-3 (CNGB3) and phosphodiesterase 6C (PDE6C).
Seattle, United States. In Unknown Journal, 2004
Identification of biallelic pathogenic variants in CNGB3, CNGA3, GNAT2, PDE6C, ATF6, or PDE6H confirms the clinical diagnosis and allows for family studies.