2024年12月25日 · SIX6 (SIX Homeobox 6) is a Protein Coding gene. Diseases associated with SIX6 include Optic Disc Anomalies With Retinal And/Or Macular Dystrophy and Colobomatous Optic Disc-Macular Atrophy-Chorioretinopathy Syndrome. Among its related pathways is Ectoderm differentiation.

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SIX6 and/or intraocular pressure promotes primary open-angle glaucoma by directly increasing p16INK4a expression. we report a homozygous missense mutation of SIX6 associated with a unique eye phenotype characterized by optic disc anomalies, macular atrophy, and coloboma of the iris and chorioretina.

2022年7月6日 · Hypermethylated SIX6 as a novel UCOM for precancerous stage and metastasis emergence tracing. a SIX6 methylation level in 678 clinical samples across ten common types of cancer and normal...

To explore early retinal development, we developed a SIX6-GFP reporter that enabled the systematic optimization of conditions that promote optic vesicle formation. We demonstrated that early hypoxic growth conditions enhanced SIX6 expression and promoted eye formation.

2020年11月30日 · Structure, mapping and expression of the human gene encoding the homeodomain protein, SIX2. Gene. 2000;247 (1-2):145‐151. Yariz KO, Sakalar YB, Jin X, et al. A homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation. Clin Genet. 2015;87 (2):192‐195.

2012年3月22日 · Clinical resource with information about SIX6, A genome-wide association study in the Japanese population confirms 9p21 and 14q23 as susceptibility loci for primary open angle glaucoma., Anophthalmia/microphthalmia-esophageal atresia syndrome, Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome, Common variants at 9p21 and 8q22 ...