Property Summary

NCBI Gene PubMed Count 38
Grant Count 20
R01 Count 15
Funding $1,634,586.97
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 0.038
non-inflammatory breast cancer -2.100 0.000
psoriasis -1.400 0.004

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.
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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.
More...