Novel SIX6 mutations cause recessively inherited congenital cataract microcornea and corneal opacification with or without coloboma and microphthalmia.
Results uncover the mechanism through which ceRNET_CC is regulated identify novel roles for the six2/ceRNET_CC axis in regulating the stemness of breast cancer cells and propose the possibility of targeting the six2/ceRNET_CC axis to inhibit breast cancer stem cell (CSC) traits.
In conclusion this study confirmed the association between two genome wide association study single nucleotide polymorphisms in SIX6 (rs33912345 and rs10483727) and primary open-angle glaucoma (POAG).
The protein-coding SIX6 variant rs33912345 previously associated with primary open-angle glaucoma (POAG) has a functional effect on glaucoma-associated optic nerve head traits in Europeans.
The BMP4- 152AA genotype might play role in the causation of congenital cataract whereas BMP4-SIX6 V-N haplotype might play a protective role toward the development of congenital cataract and microphthalmia.
Among 8 SNPs in 3 loci that showed at least nominal association (P < 5.00E-02) in the primary cohort a representative SNP for each loci (rs2157719 for CDKN2B-AS1 rs33912345 for SIX6 and rs9913911 for GAS7) were selected
We replicated the association of SNP rs10483727 in the SIX1/SIX6 locus with POAG in a Saudi cohort suggesting its role in increasing susceptibility to Primary Open Angle Glaucoma .
The results suggest that SIX6 influences different stages of RGC differentiation and their survival; therefore alteration in SIX6 function due to the risk allele may lead to cellular and molecular abnormalities.
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