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The protein encoded by VSX1 contains a paired-like homeodomain and binds to the core of the locus control region of the red/green visual pigment gene cluster.
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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.
The aim of this study was to screen the visual system homeobox 1 (VSX1) gene in Turkish patients with keratoconus
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 (show SOD1 Proteins) in the pathogenesis of KC.
novel missense substitutions in the VSX1 gene: clinical and genetic analysis of families with Keratoconus from India
Our findings confirmed previous reports that polymorphisms of VSX1 and IL1A (show IL1A Proteins) genes were associated with risk of keratoconus in the Chinese population
Our investigation showed that Keratoconus-related VSX1 mutations were found in a very small proportion of the studied patients from Iran.
This study reports the presence of pathogenic mutations in VSX1 in posterior polymorphous dystrophy and keratoconus.
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
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.
A significant association between keratoconus patients and VSX1 genetic alterations, is reported.
These findings reveal a role for Vsx1 in type 3a bipolar cells and suggest that Vsx1 function is required transiently in this cell type during the postnatal period.
findings indicate that Vsx1 regulates terminal gene expression in Type 7 bipolar cells and is necessary for proper ON visual signaling within a directionally selective circuit.
Vsx1 is required for cone bipolar cell differentiation and regulates photopic vision perception.
Although Vsx1 mRNA is upregulated in Chx10/Vsx2 (show VSX2 Proteins) deficient RPCs, Vsx1 does not genetically compensate for loss of Chx10/Vsx2 (show VSX2 Proteins), demonstrating that Prd-L:CVC genes, although important, are not absolutely required to initiate retinal development.
Transcription factor visual system homeobox 1 homolog (Vsx1) controls specific aspects of visual function in the neural circuitry of the mammalian retina.
miR (show MYLIP Proteins)-20a is essential for normal embryogenesis by restricting Vsx1 expression in goldfish and zebrafish, and that post-transcriptional regulation is an essential mechanism for Vsx1 playing different roles in diverse developmental processes.
Maternal Vsx1 plays an essential role in regulating prechordal mesendoderm and forebrain formation in zebrafish.
The protein encoded by this gene contains a paired-like homeodomain and binds to the core of the locus control region of the red/green visual pigment gene cluster. The encoded protein may regulate expression of the cone opsin genes early in development. Mutations in this gene can cause posterior polymorphous corneal dystrophy and keratoconus. Alternatively spliced transcript variants encoding different isoforms have been described.
visual system homeobox 1 homolog
, visual system homeobox 1
, visual system homeobox 1 protein
, visual system homeobox 1 homolog, CHX10-like
, homeodomain protein RINX
, retinal inner nuclear layer homeobox protein
, transcription factor VSX1
, homeobox protein Chx10-1
, transcription factor vsx1
, visual system homeobox 1 homolog, chx10-like
, paired-like homeobox protein