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    VSX1 visual system homeobox 1 [ Homo sapiens (human) ]

    Gene ID: 30813, updated on 17-Jun-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    The association between VSX1 exon3 gene variants and keratoconus in Malaysian patients.

    The association between VSX1 exon3 gene variants and keratoconus in Malaysian patients.
    Deva JP, Ngeow YF, Zin T., Free PMC Article

    06/21/2023
    High VSX1 expression promotes the aggressiveness of clear cell renal cell carcinoma by transcriptionally regulating FKBP10.

    High VSX1 expression promotes the aggressiveness of clear cell renal cell carcinoma by transcriptionally regulating FKBP10.
    Ma W, Li X, Yang L, Pan J, Chen Y, Lu Y, Dong X, Li D, Gan W., Free PMC Article

    12/17/2022
    Sequence variants of the VSX1 gene were identified for the first time in Chinese patients with sporadic keratoconus

    [A novel VSX1 gene mutation identified in a sporadic keratoconus patient from China].
    Guan T, Wu HJ, Zhang LJ, Xu DJ, Zheng LB, Yao YF.

    06/22/2019
    VSX1 is involved in keratoconus and other corneal pathologies

    Contributions of VSX1 gene to keratoconus.
    Kalasidou G, Frydas I, Kozei A, Syrmakesi P, Loukovitis E, Sfakianakis K, Balidis M, Zachariadis Z, Tranos P, Kozeis N, Anogeianakis G.

    06/15/2019
    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.

    Analysis of the VSX1 gene in sporadic keratoconus patients from China.
    Guan T, Wang X, Zheng LB, Wu HJ, Yao YF., Free PMC Article

    12/9/2017
    The aim of this study was to screen the visual system homeobox 1 (VSX1) gene in Turkish patients with keratoconus

    Novel visual system homeobox 1 gene mutations in Turkish patients with keratoconus.
    Bardak H, Gunay M, Yildiz E, Bardak Y, Gunay B, Ozbas H, Bagci O.

    03/4/2017
    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.

    Polymorphism Analysis of VSX1 and SOD1 Genes in Greek Patients with Keratoconus.
    Moschos MM, Kokolakis N, Gazouli M, Chatziralli IP, Droutsas D, Anagnou NP, Ladas ID.

    04/2/2016
    novel missense substitutions in the VSX1 gene: clinical and genetic analysis of families with Keratoconus from India

    Two novel missense substitutions in the VSX1 gene: clinical and genetic analysis of families with Keratoconus from India.
    Shetty R, Nuijts RM, Nanaiah SG, Anandula VR, Ghosh A, Jayadev C, Pahuja N, Kumaramanickavel G, Nallathambi J., Free PMC Article

    07/4/2015
    Our findings confirmed previous reports that polymorphisms of VSX1 and IL1A genes were associated with risk of keratoconus in the Chinese population

    Common single nucleotide polymorphisms and keratoconus in the Han Chinese population.
    Wang Y, Jin T, Zhang X, Wei W, Cui Y, Geng T, Liu Q, Gao J, Liu M, Chen C, Zhang C, Zhu X.

    03/15/2014
    Our investigation showed that Keratoconus-related VSX1 mutations were found in a very small proportion of the studied patients from Iran.

    Study of VSX1 mutations in patients with keratoconus in southwest Iran using PCR-single-strand conformation polymorphism/heteroduplex analysis and sequencing method.
    Dehkordi FA, Rashki A, Bagheri N, Chaleshtori MH, Memarzadeh E, Salehi A, Ghatreh H, Zandi F, Yazdanpanahi N, Tabatabaiefar MA, Chaleshtori MH.

    02/1/2014
    This study reports the presence of pathogenic mutations in VSX1 in posterior polymorphous dystrophy and keratoconus.

    Screening the visual system homeobox 1 gene in keratoconus and posterior polymorphous dystrophy cohorts identifies a novel variant.
    Vincent AL, Jordan C, Sheck L, Niederer R, Patel DV, McGhee CN., Free PMC Article

    09/28/2013
    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

    Investigation of VSX1 sequence variants in South Indian patients with sporadic cases of keratoconus.
    Verma A, Das M, Srinivasan M, Prajna NV, Sundaresan P., Free PMC Article

    06/29/2013
    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.

    VSX1 gene and keratoconus: genetic analysis in Korean patients.
    Jeoung JW, Kim MK, Park SS, Kim SY, Ko HS, Wee WR, Lee JH.

    09/29/2012
    A significant association between keratoconus patients and VSX1 genetic alterations, is reported.

    Mutation analysis of VSX1 and SOD1 in Iranian patients with keratoconus.
    Saee-Rad S, Hashemi H, Miraftab M, Noori-Daloii MR, Chaleshtori MH, Raoofian R, Jafari F, Greene W, Fakhraie G, Rezvan F, Heidari M., Free PMC Article

    04/21/2012
    A novel mutation p.G239R and previously reported mutations were found in VSX1 in Italian patients with keratoconus.

    Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus.
    De Bonis P, Laborante A, Pizzicoli C, Stallone R, Barbano R, Longo C, Mazzilli E, Zelante L, Bisceglia L., Free PMC Article

    01/28/2012
    In the keratoconus cohort, no pathogenic VSX1 mutation(s) were identified.

    Analysis of the VSX1 gene in keratoconus patients from Saudi Arabia.
    Abu-Amero KK, Kalantan H, Al-Muammar AM., Free PMC Article

    06/18/2011
    VSX1 may have an important role in the pathogenesis of keratoconus.

    Familial segregation of a VSX1 mutation adds a new dimension to its role in the causation of keratoconus.
    Paliwal P, Tandon R, Dube D, Kaur P, Sharma A., Free PMC Article

    06/18/2011
    VSX1has a minor role in keratoconus pathogenesis.

    Mutational screening of VSX1 in keratoconus patients from the European population.
    Dash DP, George S, O'Prey D, Burns D, Nabili S, Donnelly U, Hughes AE, Silvestri G, Jackson J, Frazer D, Héon E, Willoughby CE.

    06/18/2011
    In mice, Vsx1 mRNA, protein or reporter gene expression is not detected in the normal or damaged cornea.

    Absence of Vsx1 expression in the normal and damaged mouse cornea.
    Watson T, Chow RL., Free PMC Article

    06/18/2011
    No pathogenic VSX1 mutation was identified.

    VSX1 gene analysis in keratoconus.
    Tanwar M, Kumar M, Nayak B, Pathak D, Sharma N, Titiyal JS, Dada R., Free PMC Article

    02/26/2011
    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

    Genetics and clinical characteristics of keratoconus.
    Stabuc-Silih M, Strazisar M, Ravnik-Glavac M, Hawlina M, Glavac D.

    01/8/2011
    Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)

    Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article

    06/30/2010
    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.

    Absence of pathogenic mutations in VSX1 and SOD1 genes in patients with keratoconus.
    Stabuc-Silih M, Strazisar M, Hawlina M, Glavac D.

    04/12/2010
    This is the first report from the Indian subcontinent exploring the role of VSX1 in the causation of keratoconus.

    A novel VSX1 mutation identified in an individual with keratoconus in India.
    Paliwal P, Singh A, Tandon R, Titiyal JS, Sharma A., Free PMC Article

    01/21/2010
    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.

    [Mutational analysis of VSX-1 in one patient with posterior polymorphous corneal dystrophy and in three families with hereditary Fuchs endothelial dystrophy].
    Clausen I, Weidle E, Duncker G, Grünauer-Kloevekorn C.

    01/21/2010
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