Property Summary

NCBI Gene PubMed Count 38
PubMed Score 47.65
PubTator Score 63.25

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
subependymal giant cell astrocytoma -1.030 3.8e-02
non-inflammatory breast cancer -2.100 6.8e-12
psoriasis -1.400 3.6e-03

Gene RIF (38)

PMID Text
25963163 novel missense substitutions in the VSX1 gene: clinical and genetic analysis of families with Keratoconus from India
24107477 Our investigation showed that Keratoconus-related VSX1 mutations were found in a very small proportion of the studied patients from Iran.
24099280 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.
23592923 This study reports the presence of pathogenic mutations in VSX1 in posterior polymorphous dystrophy and keratoconus.
23506487 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
23289806 Our findings confirmed previous reports that polymorphisms of VSX1 and IL1A genes were associated with risk of keratoconus in the Chinese population
22531431 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.
22171159 A significant association between keratoconus patients and VSX1 genetic alterations, is reported.
21976959 A novel mutation p.G239R and previously reported mutations were found in VSX1 in Italian patients with keratoconus.
21437200 In mice, Vsx1 mRNA, protein or reporter gene expression is not detected in the normal or damaged cornea.
21403853 In the keratoconus cohort, no pathogenic VSX1 mutation(s) were identified.
21365019 VSX1 may have an important role in the pathogenesis of keratoconus.
21139977 No pathogenic VSX1 mutation was identified.
20664914 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
20664914 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20023586 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.
20023586 Observational study of gene-disease association. (HuGE Navigator)
19956409 This is the first report from the Indian subcontinent exploring the role of VSX1 in the causation of keratoconus.
19956409 Observational study of gene-disease association. (HuGE Navigator)
19763142 VSX1has a minor role in keratoconus pathogenesis.
19507099 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.
19011015 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.
18626569 VSX1 gene variants seem to be significant genetic variants for keratoconus predisposition in unrelated Korean patients.
18626569 Observational study of gene-disease association. (HuGE Navigator)
18484309 VSX1 gene mutation is associated with keratoconus
18253095 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.
18216574 Observational study of gene-disease association. (HuGE Navigator)
18216574 We cannot confirm the previously reported association of the polymorphism in the VSX1 gene with keratoconus.
17960127 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.
17122109 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.
16799019 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.
16384943 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.
15647262 CHX10 and VSX1 may control retinal bipolar cell specification or differentiation by repressing genes required for the development of other cell types
15623752 Observational study of genotype prevalence. (HuGE Navigator)
15623752 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
15051220 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.
11978762 Mutations in VSX1 homeobox gene results in impaired DNA binding and is associated with posterior polymorphous dystrophy and keratoconus

AA Sequence

MTGRDSLSDGRTSSRALVPGGSPRGSRPRGFAITDLLGLEAELPAPAGPGQGSGCEGPAVAPCPGPGLDG      1 - 70
SSLARGALPLGLGLLCGFGTQPPAAARAPCLLLADVPFLPPRGPEPAAPLAPSRPPPALGRQKRSDSVST     71 - 140
SDEDSQSEDRNDLKASPTLGKRKKRRHRTVFTAHQLEELEKAFSEAHYPDVYAREMLAVKTELPEDRIQV    141 - 210
WFQNRRAKWRKREKRWGGSSVMAEYGLYGAMVRHCIPLPDSVLNSAEGGLLGSCAPWLLGMHKKSMGMIR    211 - 280
KPGSEDKLAGLWGSDHFKEGSSQSESGSQRGSDKVSPENGLEDVAIDLSSSARQETKKVHPGAGAQGGSN    281 - 350
STALEGPQPGKVGAT                                                           351 - 365
//

Text Mined References (38)

PMID Year Title
25963163 2015 Two novel missense substitutions in the VSX1 gene: clinical and genetic analysis of families with Keratoconus from India.
24107477 2013 Study of VSX1 mutations in patients with keratoconus in southwest Iran using PCR-single-strand conformation polymorphism/heteroduplex analysis and sequencing method.
24099280 2015 Polymorphism Analysis of VSX1 and SOD1 Genes in Greek Patients with Keratoconus.
23592923 2013 Screening the visual system homeobox 1 gene in keratoconus and posterior polymorphous dystrophy cohorts identifies a novel variant.
23506487 2013 Investigation of VSX1 sequence variants in South Indian patients with sporadic cases of keratoconus.
23289806 2013 Common single nucleotide polymorphisms and keratoconus in the Han Chinese population.
22531431 2012 VSX1 gene and keratoconus: genetic analysis in Korean patients.
22171159 2011 Mutation analysis of VSX1 and SOD1 in Iranian patients with keratoconus.
21976959 2011 Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus.
21437200 2011 Absence of Vsx1 expression in the normal and damaged mouse cornea.
21403853 2011 Analysis of the VSX1 gene in keratoconus patients from Saudi Arabia.
21365019 2011 Familial segregation of a VSX1 mutation adds a new dimension to its role in the causation of keratoconus.
21139977 2010 VSX1 gene analysis in keratoconus.
20664914 2010 Genetics and clinical characteristics of keratoconus.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20023586 2010 Absence of pathogenic mutations in VSX1 and SOD1 genes in patients with keratoconus.
19956409 2009 A novel VSX1 mutation identified in an individual with keratoconus in India.
19763142 2010 Mutational screening of VSX1 in keratoconus patients from the European population.
19507099 2009 [Mutational analysis of VSX-1 in one patient with posterior polymorphous corneal dystrophy and in three families with hereditary Fuchs endothelial dystrophy].
19011015 2009 Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32.
18626569 2008 VSX1 gene variants are associated with keratoconus in unrelated Korean patients.
18484309 2008 The D144E substitution in the VSX1 gene: a non-pathogenic variant or a disease causing mutation?
18253095 2008 Genetic analysis of chromosome 20-related posterior polymorphous corneal dystrophy: genetic heterogeneity and exclusion of three candidate genes.
18216574 2008 Three VSX1 gene mutations, L159M, R166W, and H244R, are not associated with keratoconus.
17960127 2007 Molecular analysis of the VSX1 gene in familial keratoconus.
17122109 2006 Expression of VSX1 in human corneal keratocytes during differentiation into myofibroblasts in response to wound healing.
16799019 2006 No VSX1 gene mutations associated with keratoconus.
16384943 2006 H244R VSX1 is associated with selective cone ON bipolar cell dysfunction and macular degeneration in a PPCD family.
15647262 2005 Transcriptional activity of the paired-like homeodomain proteins CHX10 and VSX1.
15623752 2005 VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15051220 2004 VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11978762 2002 VSX1: a gene for posterior polymorphous dystrophy and keratoconus.
11780052 2001 The DNA sequence and comparative analysis of human chromosome 20.
10903837 2000 RINX(VSX1), a novel homeobox gene expressed in the inner nuclear layer of the adult retina.
10673340 2000 Isolation and characterization of a novel human paired-like homeodomain-containing transcription factor gene, VSX1, expressed in ocular tissues.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.