VSX1

VSX1

A gene on chromosome 20p11.21 that encodes a homeobox protein which binds to the core of the locus control region of the red/green visual pigment gene cluster. It may regulate the activity of the locus control region (LCR) and the cone opsin genes at earlier stages of development.

Molecular pathology
VSX1 mutations can cause posterior polymorphous corneal dystrophy and keratoconus.
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References in periodicals archive ?
Other genes such as CAST, DOCK9, IL1RN, SLC4A11, HGF, TGFBI, ZNF469, ZEB1, and VSX1 have been studied and involved in the possible genetic element of keratoconus [5, 6].
Overexpression of Tear Inflammatory Cytokines as Additional Finding in Keratoconus Patients and Their First Degree Family Members
Miraftab et al., "Mutation analysis of VSX1 and SOD1 in Iranian patients with keratoconus," Molecular Vision, vol.
The Role of the Reactive Oxygen Species and Oxidative Stress in the Pathomechanism of the Age-Related Ocular Diseases and Other Pathologies of the Anterior and Posterior Eye Segments in Adults
Szilard et al., "Control of late off-center cone bipolar cell differentiation and visual signaling by the homeobox gene Vsx1," Proceedings of the National Academy of Sciences of the United States of America, vol.
Islet-1 immunoreactivity in the developing retina of Xenopus laevis
VSX1 geninin heterozigot mutasyonlari keratokonusun bir nedeni olarak gorulebilmektedir.
Keratokonuslu bir ailenin uc neslinin takibinde VSX1 geninin D144E mutasyonu gorulmustur.
Keratokonus bulunan 18 ailede yapilan arastirmada VSX1 ve SOD1'in olasi hastalik yapan genler olarak tespit edilmis ve 13q32'ya yakin keratokonus icin sorumlu olabilecek bir gen tespit edilmistir.
Daha onceki yayinlarda keratokonus ile ilgili oldugu dusunulen VSX1 gen mutasyonlarinin keratokonus ile baglantili olmadigi gosterilmistir.
The D144E substitution in the VSX1 gene: a non-pathogenic variant or a disease causing mutation?
An up-to-date view at the etiopathogenesis of keratoconus/Keratokonusun etiyopatogenezine guncel bir bakis
Those that did not sustain feeding damage by CSB included ARC91016-41-E5, ARC91016-41L-2, ARC91017-44E-5, ARC91023-63L-5, ARC91022-59L-4, ARC91004, Casino, GA96202, Jetton, KS7419, KS7436, KS7638, KS7730, KSM3-1-124, KS-SU-C05-S, KS-SU-W05-S, VDH 6036-195, VSX1 (= Virginia) and Winfield.
Occurrence of clover stem borer, Languria mozardi (Coleoptera: Languriidae), on canola: a new host record
(11) Una forma de la enfer-medad asociada con un funcionamiento anormal de la retina ha sido atribuido a una mutacion en el gen VSX1 (factor de transcripcion retiniano).
VSX1: a gene for posterior polymorphous dystrophy and keratoconus.
Ectasias corneales

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