Recombinant Human Visual system homeobox 1 (VSX1)

1. In this study, we added one novel missense sequence variation (p.Arg131Pro) in the coding region of the VSX1 gene to the range of VSX1 coding region variations observed in patients with sporadic keratoconus from China. PMID: 28950846
2. The aim of this study was to screen the visual system homeobox 1 (VSX1) gene in Turkish patients with keratoconus PMID: 27819732
3. We cannot confirm the previously reported association of the polymorphism in the VSX1 gene with keratoconus (KC). Our results suggest a possible causative role of SOD1 in the pathogenesis of KC. PMID: 24099280
4. novel missense substitutions in the VSX1 gene: clinical and genetic analysis of families with Keratoconus from India PMID: 25963163
5. Our findings confirmed previous reports that polymorphisms of VSX1 and IL1A genes were associated with risk of keratoconus in the Chinese population PMID: 23289806
6. Our investigation showed that Keratoconus-related VSX1 mutations were found in a very small proportion of the studied patients from Iran. PMID: 24107477
7. This study reports the presence of pathogenic mutations in VSX1 in posterior polymorphous dystrophy and keratoconus. PMID: 23592923
8. lack of VSX1 pathogenic variations in a large number of unrelated sporadic keratoconus patients tend to omit its role, and corroborate the involvement of other genetic, environmental or behavioural factors in the development of this complex disorder PMID: 23506487
9. Our results suggest that the VSX1 gene and its mutations with amino acid changes do not play a major role in the pathogenesis of keratoconus. PMID: 22531431
10. A significant association between keratoconus patients and VSX1 genetic alterations, is reported. PMID: 22171159
11. A novel mutation p.G239R and previously reported mutations were found in VSX1 in Italian patients with keratoconus. PMID: 21976959
12. VSX1 may have an important role in the pathogenesis of keratoconus. PMID: 21365019
13. In the keratoconus cohort, no pathogenic VSX1 mutation(s) were identified. PMID: 21403853
14. VSX1has a minor role in keratoconus pathogenesis. PMID: 19763142
15. In mice, Vsx1 mRNA, protein or reporter gene expression is not detected in the normal or damaged cornea. PMID: 21437200
16. No pathogenic VSX1 mutation was identified. PMID: 21139977
17. The absence of pathogenic mutations in VSX1 gene in our large number of unrelated keratoconus patients indicates that other genetic factors are involved in the development of this disorder PMID: 20664914
18. The absence of pathogenic mutations in our large number of unrelated patients with KC (keratoconus) indicates that other genetic factors are involved in the development of this disorder. PMID: 20023586
19. Mutations in VSX1 homeobox gene results in impaired DNA binding and is associated with posterior polymorphous dystrophy and keratoconus PMID: 11978762
20. The new mutation in the VSX1 (RINX) gene described in this report results in abnormal craniofacial features, absence of the roof of the sella turcica, and anomalous development of the corneal endothelium. PMID: 15051220
21. Mutational analysis of the VSX1 gene in a series of Italian patients revealed one novel mutation and confirmed an important role played by this gene in a significant proportion of patients affected by keratoconus PMID: 15623752
22. CHX10 and VSX1 may control retinal bipolar cell specification or differentiation by repressing genes required for the development of other cell types PMID: 15647262
23. The human VSX1 is required for cone ON bipolar cell function but not for rod and cone OFF bipolar cells, giving a unique example of such a selective heritable retinal defect in humans. PMID: 16384943
24. The absence of pathogenic mutations in the VSX1 gene in a large number of unrelated KTCN (keratoconus) patients indicates that other genetic factors are involved in the development of this disorder. PMID: 16799019
25. The results show that VSX1 is expressed in vitro and in vivo during human corneal wound healing, a process in which differentiation of corneal keratocytes into myofibroblasts occurs. PMID: 17122109
26. We excluded c.432C>G sequence alteration as cause. Involvement of this gene in pathogenesis of keratoconus is likely to be confined to a small number of pedigrees. PMID: 17960127
27. We cannot confirm the previously reported association of the polymorphism in the VSX1 gene with keratoconus. PMID: 18216574
28. First documentation of VSX1 expression in human neonatal cornea. Full genomic sequence of VSX1 and coding exons of three other candidate genes were excluded from being pathogenic in original posterior polymorphous corneal dystrophy family. PMID: 18253095
29. VSX1 gene mutation is associated with keratoconus PMID: 18484309
30. VSX1 gene variants seem to be significant genetic variants for keratoconus predisposition in unrelated Korean patients. PMID: 18626569
31. The results exclude VSX1 and SOD1 as potential disease-causing genes in these families and localize a novel gene for keratoconus to a 5.6-Mb interval on 13q32. PMID: 19011015
32. The absence of pathogenic mutations in the VSX-1 gene in affected family members of 3 pedigrees indicates that other genetic factors are involved in the development of familial Fuchs endothelial corneal dystrophy. PMID: 19507099
33. This is the first report from the Indian subcontinent exploring the role of VSX1 in the causation of keratoconus. PMID: 19956409

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HGNC: 12723

OMIM: 148300

KEGG: hsa:30813

STRING: 9606.ENSP00000365899

UniGene: Hs.274264